P08172
PR
Gene name |
CHRM2 |
Protein name |
Muscarinic acetylcholine receptor M2 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1129 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
18 structures for P08172
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3UON | X-ray | 300 A | PDB | ||
| 4MQS | X-ray | 350 A | A | 1-466 | PDB |
| 4MQT | X-ray | 370 A | A | 1-466 | PDB |
| 5YC8 | X-ray | 250 A | A | 10-466 | PDB |
| 5ZK3 | X-ray | 260 A | A | 10-466 | PDB |
| 5ZK8 | X-ray | 300 A | A | 10-466 | PDB |
| 5ZKB | X-ray | 295 A | A | 10-466 | PDB |
| 5ZKC | X-ray | 230 A | A | 10-466 | PDB |
| 6OIK | EM | 360 A | R | 3-466 | PDB |
| 6U1N | EM | 400 A | R | 2-466 | PDB |
| 7T8X | EM | 321 A | PDB | ||
| 7T90 | EM | 332 A | PDB | ||
| 7T94 | EM | 316 A | PDB | ||
| 7T96 | EM | 322 A | PDB | ||
| 8J8R | EM | 290 A | G/U/V | 300-317 | PDB |
| 8J97 | EM | 320 A | V | 305-313 | PDB |
| 8JAF | EM | 310 A | V | 307-313 | PDB |
| AF-P08172-F1 | Predicted | AlphaFoldDB |
324 variants for P08172
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1805069679 RCV001211521 |
15 | T>K | Dilated Cardiomyopathy, Dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001220749 rs1805074915 |
34 | S>I | Dilated Cardiomyopathy, Dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4500509 rs143842239 COSM452408 RCV001036347 |
57 | V>I | biliary_tract stomach Dilated Cardiomyopathy, Dominant Variant assessed as Somatic; 4.619e-05 impact. breast [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1440850408 CA369486019 RCV001315040 |
76 | S>C | Dilated Cardiomyopathy, Dominant [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001055269 CA369486794 rs1394629702 |
190 | T>M | Variant assessed as Somatic; 0.0 impact. Dilated Cardiomyopathy, Dominant [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1805107459 RCV001051194 |
193 | A>T | Dilated Cardiomyopathy, Dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
CA369486927 rs1563128628 RCV000706849 |
210 | S>F | Dilated Cardiomyopathy, Dominant [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs774760812 RCV001344501 CA4500552 |
211 | R>Q | Variant assessed as Somatic; 0.0 impact. Dilated Cardiomyopathy, Dominant [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001409902 RCV002526971 rs143952141 CA4500555 RCV000486257 |
225 | V>D | Dilated Cardiomyopathy, Dominant Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs760821552 CA4500556 RCV001340481 |
227 | N>S | Dilated Cardiomyopathy, Dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001312250 rs762688022 CA4500559 |
229 | D>G | Dilated Cardiomyopathy, Dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4500561 rs76394680 RCV000219483 RCV000554962 |
231 | V>I | Dilated Cardiomyopathy, Dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4500562 RCV001086960 RCV000767082 rs138886480 RCV000478978 |
235 | L>M | Dilated Cardiomyopathy, Dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001045589 rs1805119053 |
240 | I>M | Dilated Cardiomyopathy, Dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001759660 RCV000877725 CA4500572 COSM168823 rs140681489 |
253 | D>N | Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine endometrium Dilated Cardiomyopathy, Dominant [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs368473785 CA4500573 RCV000807718 |
254 | G>V | Dilated Cardiomyopathy, Dominant [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000222492 RCV000543439 rs142006633 CA4500575 |
258 | N>S | Dilated Cardiomyopathy, Dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000215120 rs138193709 RCV000767185 CA4500582 RCV000555863 |
287 | T>S | Dilated Cardiomyopathy, Dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1805134418 RCV001236002 |
292 | V>I | Dilated Cardiomyopathy, Dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000523942 RCV001858049 rs1454380573 |
292 | V>missing | Dilated Cardiomyopathy, Dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001348953 rs200017653 CA4500593 |
312 | L>Q | Dilated Cardiomyopathy, Dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA4500598 RCV000691247 rs773330734 |
325 | I>F | Dilated Cardiomyopathy, Dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000607436 rs146328962 RCV000532481 CA4500601 COSM1235990 |
331 | T>S | Dilated Cardiomyopathy, Dominant haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs139037603 RCV000792415 CA4500609 |
344 | V>A | Dilated Cardiomyopathy, Dominant [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs139037603 CA4500608 RCV001317198 |
344 | V>G | Dilated Cardiomyopathy, Dominant [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM484891 CA4500607 RCV000528194 rs201165506 |
344 | V>M | kidney Variant assessed as Somatic; 0.0 impact. Dilated Cardiomyopathy, Dominant [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA369487826 RCV000536065 rs1455067791 |
346 | V>L | Variant assessed as Somatic; impact. Dilated Cardiomyopathy, Dominant [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001237090 rs1805158684 |
365 | I>T | Dilated Cardiomyopathy, Dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
TCGA novel RCV001316597 CA369487994 rs1237014805 |
371 | Q>H | Dilated Cardiomyopathy, Dominant Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD NCI-TCGA |
|
CA4500620 RCV000215174 rs138806839 RCV000542120 RCV001697180 |
372 | P>A | Dilated Cardiomyopathy, Dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1432230108 RCV000817634 COSM268376 CA369488050 |
381 | R>Q | large_intestine Variant assessed as Somatic; impact. Dilated Cardiomyopathy, Dominant [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
rs745902607 CA339712 RCV000203522 |
397 | I>V | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000793624 CA369488274 rs1584929720 |
415 | P>S | Dilated Cardiomyopathy, Dominant [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4500637 RCV001246558 rs758947846 |
420 | T>S | Dilated Cardiomyopathy, Dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001064642 rs1805176312 |
429 | C>S | Dilated Cardiomyopathy, Dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1235081132 CA369485534 |
2 | N>I | No |
ClinGen gnomAD |
|
|
rs745612214 CA4500484 |
3 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374779439 CA4500485 |
6 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369485567 rs1192849106 |
7 | S>P | No |
ClinGen TOPMed |
|
|
rs1406069647 CA369485576 |
8 | S>F | No |
ClinGen gnomAD |
|
|
rs779951266 CA4500486 |
9 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369485588 rs1165917636 |
10 | N>S | No |
ClinGen gnomAD |
|
|
rs749289446 CA4500487 |
11 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA369485593 rs749289446 |
11 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs773792205 CA4500489 |
13 | A>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 13 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs551950798 CA4500490 |
15 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4500491 RCV000519141 rs771580504 |
16 | S>N | No |
ClinGen ClinVar ExAC dbSNP |
|
|
COSM139738 CA4500492 rs371019456 |
17 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed |
|
RCV000222094 rs876657763 |
18 | Y>missing | No |
ClinVar dbSNP |
|
|
CA4500493 rs760923837 |
19 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs766827239 CA4500494 |
20 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs375796898 CA167698531 |
21 | F>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA369485656 rs1233596712 |
21 | F>S | No |
ClinGen gnomAD |
|
|
rs1057518509 CA369485668 |
23 | V>L | No |
ClinGen gnomAD |
|
|
RCV000413929 CA16042555 rs1057518509 |
23 | V>M | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA4500495 rs149688666 |
25 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1215768506 CA369485685 |
26 | I>L | No |
ClinGen gnomAD |
|
|
rs752779282 CA4500498 |
31 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA369485750 rs1486838543 |
36 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs758540579 CA4500499 |
36 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA4500501 rs751859025 |
38 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4500503 rs779754715 |
40 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1409360909 CA369485788 |
42 | I>T | No |
ClinGen gnomAD |
|
|
CA369485837 rs1234703666 |
49 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 49 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA167698533 COSM1448302 rs1011147170 |
52 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA4500505 rs768531848 COSM74147 |
52 | R>H | ovary Variant assessed as Somatic; 0.0 impact. large_intestine haematopoietic_and_lymphoid_tissue [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 53 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs185121445 CA167698534 |
53 | H>Y | No |
ClinGen 1000Genomes |
|
|
rs747578457 CA4500507 |
55 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA369485872 rs1432297184 |
55 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 56 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 67 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA167698536 rs11773032 |
73 | G>S | No |
ClinGen Ensembl |
|
|
CA369486012 rs1055899625 |
75 | F>S | No |
ClinGen TOPMed |
|
|
CA167698537 rs1055899625 |
75 | F>Y | No |
ClinGen TOPMed |
|
|
rs1584927691 CA369486035 |
78 | N>I | No |
ClinGen Ensembl |
|
|
rs760006520 CA4500513 |
78 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 78 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs567394164 CA4500514 |
79 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4500515 rs776183369 |
80 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1397474533 CA369486055 |
81 | T>I | No |
ClinGen TOPMed |
|
|
rs1192304125 CA369486064 |
83 | Y>D | No |
ClinGen TOPMed |
|
|
rs1453335829 CA369486076 |
85 | V>M | No |
ClinGen TOPMed |
|
|
CA4500517 rs764299494 |
86 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369486083 rs1435140915 |
86 | I>V | No |
ClinGen gnomAD |
|
|
CA167698541 rs922733372 |
88 | Y>N | No |
ClinGen TOPMed |
|
| TCGA novel | 91 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 91 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1014962510 CA167698542 |
91 | L>S | No |
ClinGen Ensembl |
|
|
CA369486136 rs1373256763 |
94 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 103 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1224885019 CA369486212 |
105 | V>E | No |
ClinGen gnomAD |
|
| TCGA novel | 116 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751591780 CA369486327 |
121 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1296078951 CA369486332 |
122 | Y>C | No |
ClinGen gnomAD |
|
|
COSM1085928 rs757439767 CA4500519 |
126 | T>K | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 132 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4500523 rs536236239 |
133 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA369486417 rs1446523872 |
135 | R>Q | Variant assessed as Somatic; 4.629e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA369486416 rs748172206 |
135 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs757844531 CA4500525 |
139 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA369486459 rs1233456812 |
141 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4500528 rs142493466 |
142 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1454617986 CA369486461 |
142 | M>V | No |
ClinGen gnomAD |
|
|
CA369486490 rs1375757054 |
146 | A>T | No |
ClinGen gnomAD |
|
|
rs1584927945 CA369486515 |
149 | V>G | No |
ClinGen Ensembl |
|
|
CA369486538 rs1383738640 |
153 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4500531 rs770334609 |
154 | L>V | No |
ClinGen ExAC gnomAD |
|
|
COSM126622 rs1327261637 CA369486552 |
155 | W>* | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA4500532 rs775850694 |
158 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775850694 CA369486573 |
158 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775850694 CA369486574 |
158 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369486625 rs1241561623 |
165 | I>T | No |
ClinGen gnomAD |
|
|
CA369486628 rs1280391263 |
166 | V>I | No |
ClinGen gnomAD |
|
|
rs764518888 CA4500534 |
170 | T>P | No |
ClinGen ExAC |
|
|
CA4500535 COSM365393 rs774435971 |
172 | E>D | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA369486666 rs1172103918 |
172 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1414407946 CA369486672 |
173 | D>H | No |
ClinGen TOPMed |
|
|
CA4500537 COSM374607 rs767694809 |
174 | G>E | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA369486683 rs767694809 |
174 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 175 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA167698547 rs1045590358 |
175 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA167698548 rs902978046 |
175 | E>V | No |
ClinGen TOPMed |
|
|
CA369486707 rs1265117293 |
178 | I>L | No |
ClinGen gnomAD |
|
| TCGA novel | 179 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1188211079 CA369486716 |
179 | Q>P | No |
ClinGen TOPMed |
|
| TCGA novel | 184 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1293483630 CA369486806 |
192 | I>M | No |
ClinGen gnomAD |
|
|
rs987827617 CA167698549 |
192 | I>T | No |
ClinGen Ensembl |
|
|
CA369486817 rs1393506388 |
194 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 195 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756871577 CA4500545 |
197 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 197 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4500547 rs745576549 |
199 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 201 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1335569874 CA369486880 |
203 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA369486881 rs1232704795 |
204 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 206 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA167698551 rs940570366 |
207 | W>R | No |
ClinGen Ensembl |
|
|
CA369486915 rs1249636932 |
208 | H>Q | No |
ClinGen gnomAD |
|
|
rs1196291053 CA369486910 |
208 | H>Y | No |
ClinGen gnomAD |
|
|
rs769162048 CA369486923 |
210 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs769162048 CA4500551 |
210 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA4500553 rs774760812 |
211 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 213 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753168342 CA167698552 |
213 | S>R | No |
ClinGen Ensembl |
|
| TCGA novel | 215 | S>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1447700613 CA369486955 |
215 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA369486968 rs1418067403 |
217 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 219 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369487002 rs1162009568 |
221 | K>R | No |
ClinGen gnomAD |
|
|
CA369487028 rs1161870506 COSM3431276 |
225 | V>I | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 226 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369487041 rs1168996974 |
227 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA4500558 rs766603213 |
227 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1254909575 CA369487045 |
228 | Q>K | No |
ClinGen TOPMed |
|
|
CA369487061 rs764065651 |
230 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA4500560 rs764065651 |
230 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA369487080 rs1309329857 |
233 | P>L | No |
ClinGen gnomAD |
|
|
CA369487083 rs1311268670 |
234 | S>G | No |
ClinGen Ensembl |
|
|
CA4500563 rs562591207 |
238 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA167698554 rs949756685 |
239 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs949756685 CA369487116 |
239 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
CA4500564 rs749964257 |
240 | I>R | No |
ClinGen ExAC gnomAD |
|
|
rs749964257 CA369487122 |
240 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA369487128 rs1316210309 |
241 | V>A | No |
ClinGen TOPMed |
|
|
rs755776596 CA4500565 |
241 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs779600445 CA4500566 |
242 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs749633370 CA4500567 |
243 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs768949834 CA4500568 |
246 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4500569 rs779460928 |
246 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369487180 rs1428222549 COSM1448310 |
248 | M>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1390053717 CA369487173 |
248 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 249 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369487188 rs1233937573 |
250 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 250 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs964339453 CA167698555 |
250 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1000422478 CA167698556 |
255 | L>P | No |
ClinGen TOPMed |
|
|
rs771145348 CA4500574 |
255 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA4500576 rs762789853 |
258 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs763856121 CA4500577 |
262 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA369487279 rs1346882069 |
263 | G>S | No |
ClinGen gnomAD |
|
|
rs1207638376 CA369487288 |
264 | K>R | No |
ClinGen gnomAD |
|
|
CA369487296 rs1554437349 RCV000604466 |
265 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA369487303 rs1429249696 |
267 | R>G | No |
ClinGen TOPMed |
|
|
rs1485924904 CA369487308 |
267 | R>S | No |
ClinGen gnomAD |
|
|
CA167698557 rs267601306 |
268 | D>N | No |
ClinGen Ensembl |
|
|
rs866256345 CA167698558 |
269 | P>L | No |
ClinGen Ensembl |
|
|
rs751540604 CA4500578 |
274 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs761781626 CA4500579 |
274 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767581033 CA4500580 |
275 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 275 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1196046513 CA369487368 |
276 | Q>H | No |
ClinGen gnomAD |
|
|
rs1462512567 CA369487365 |
276 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs527857234 CA4500581 |
277 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 282 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs899982435 CA167698559 |
282 | S>T | No |
ClinGen Ensembl |
|
|
rs1432943049 CA369487440 |
286 | S>F | No |
ClinGen gnomAD |
|
|
rs138193709 CA369487445 |
287 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373572052 CA4500583 |
288 | S>* | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 288 | S>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369487453 rs1345595235 |
289 | V>L | No |
ClinGen Ensembl |
|
|
rs367710357 CA167698560 |
290 | S>T | No |
ClinGen ESP |
|
|
rs1428962387 CA369487465 |
291 | A>P | No |
ClinGen TOPMed |
|
|
CA4500584 rs753491070 |
292 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 292 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779078351 CA4500586 |
296 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA369487496 rs1304033517 |
296 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs748527931 CA369487525 |
299 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267601307 CA167698561 |
300 | E>K | No |
ClinGen Ensembl |
|
|
CA369487545 rs1209174051 |
302 | T>I | No |
ClinGen gnomAD |
|
|
CA4500588 rs772521126 |
303 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA4500589 rs778284565 |
304 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs915877356 CA167698563 |
305 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA369487567 rs1469394554 |
306 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA369487585 rs1254119125 |
308 | V>A | No |
ClinGen gnomAD |
|
|
rs760040127 CA369487581 |
308 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs760040127 CA167698564 |
308 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA167698565 rs950002962 |
310 | T>A | No |
ClinGen TOPMed |
|
|
COSM143421 rs776902210 CA369487601 |
311 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4500592 rs776902210 |
311 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4500594 rs200017653 |
312 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 316 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1409906654 COSM268118 CA369487642 |
318 | E>K | large_intestine Variant assessed as Somatic; 4.63e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1463060899 CA369487662 COSM1723901 |
320 | S>F | NS [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs767527482 CA369487668 |
321 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4500597 rs767527482 |
321 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1292379287 CA369487683 |
323 | T>I | No |
ClinGen TOPMed |
|
|
rs1168092234 CA369487696 |
325 | I>S | No |
ClinGen TOPMed |
|
|
CA369487694 rs773330734 |
325 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200169935 CA167698566 |
326 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs200169935 CA4500599 COSM1085934 |
326 | R>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1162061160 CA369487702 |
326 | R>S | No |
ClinGen gnomAD |
|
|
CA369487705 rs1299723739 |
327 | I>V | No |
ClinGen gnomAD |
|
|
CA4500600 rs143216855 |
329 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778101866 CA4500603 |
337 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA369487782 rs1233320478 |
338 | T>I | No |
ClinGen gnomAD |
|
|
CA369487789 rs1451483101 |
339 | P>L | No |
ClinGen gnomAD |
|
|
CA369487784 rs1291226800 |
339 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 341 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1455679341 CA369487807 |
342 | T>N | No |
ClinGen TOPMed |
|
| TCGA novel | 342 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758803826 CA4500606 |
343 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 343 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs955607223 CA167698567 |
343 | T>S | No |
ClinGen Ensembl |
|
|
rs201165506 CA167698568 |
344 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs892873306 CA167698569 |
346 | V>A | No |
ClinGen TOPMed |
|
|
CA369487824 rs1455067791 |
346 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 348 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781068894 CA4500610 |
348 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA167698571 rs866638024 |
349 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 349 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369487849 rs1403597204 |
350 | S>L | No |
ClinGen gnomAD |
|
|
CA4500612 rs769865494 |
352 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs374975955 CA167698573 |
354 | G>R | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 357 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 357 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747925877 CA4500614 |
358 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA167698574 rs1034180842 |
360 | I>M | No |
ClinGen gnomAD |
|
|
CA369487921 rs1414882513 |
360 | I>S | No |
ClinGen gnomAD |
|
|
rs1414882513 CA369487920 |
360 | I>T | No |
ClinGen gnomAD |
|
|
rs1353641490 CA369487927 |
361 | V>G | No |
ClinGen gnomAD |
|
|
rs772049510 CA4500615 |
363 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4500616 COSM2859438 rs147228075 |
363 | R>H | Variant assessed as Somatic; 0.0 impact. pancreas central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs772049510 CA369487934 |
363 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
TCGA novel rs548996412 CA167698575 |
364 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1296065108 CA369487946 |
365 | I>V | No |
ClinGen TOPMed |
|
|
rs1584929377 CA369487961 |
367 | K>T | No |
ClinGen Ensembl |
|
|
rs760460971 CA4500617 |
368 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA369487974 rs1272765060 |
369 | T>P | No |
ClinGen gnomAD |
|
|
rs759119090 CA4500621 |
372 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759119090 CA369487998 |
372 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764838370 CA4500622 |
373 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs752396483 CA4500623 |
375 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA369488028 rs1166420849 |
377 | P>T | No |
ClinGen gnomAD |
|
|
CA4500624 rs377734401 |
378 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA167698576 rs1041397375 |
378 | P>S | No |
ClinGen Ensembl |
|
|
CA4500625 rs36044268 |
379 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA167698578 rs36044268 |
379 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA167698579 rs141243227 |
383 | K>R | No |
ClinGen ESP TOPMed |
|
|
rs1272466011 CA369488080 |
385 | V>A | No |
ClinGen gnomAD |
|
|
rs936261380 CA167698580 |
387 | R>K | No |
ClinGen Ensembl |
|
|
COSM74149 CA369488092 rs751960909 |
387 | R>S | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs757650543 CA4500627 |
390 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1278120022 CA369488140 |
395 | A>S | Variant assessed as Somatic; 4.635e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 401 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749588890 CA4500631 |
403 | Y>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA369488207 rs1454535869 |
405 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 406 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1171664004 CA369488217 |
406 | M>T | No |
ClinGen gnomAD |
|
|
CA167698581 rs149906417 |
408 | L>F | No |
ClinGen ESP |
|
|
rs769003230 CA4500632 |
410 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs572334551 CA4500633 |
411 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA369488293 rs1255904613 |
417 | I>N | No |
ClinGen TOPMed |
|
|
rs1296013091 CA369488300 |
418 | P>L | No |
ClinGen gnomAD |
|
|
CA369488306 rs1286131012 |
419 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 422 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 423 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369488345 rs1343063990 |
425 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 425 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1256583527 CA369488351 |
426 | Y>S | No |
ClinGen gnomAD |
|
|
CA167698582 rs188427169 |
427 | W>L | No |
ClinGen 1000Genomes |
|
|
rs74890585 CA167698583 |
435 | I>T | No |
ClinGen Ensembl |
|
|
CA369488417 rs1408850981 |
435 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 441 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1206800976 CA369488465 |
442 | L>F | No |
ClinGen gnomAD |
|
|
rs1401470098 CA369488496 |
446 | T>I | No |
ClinGen TOPMed |
|
|
rs1454431431 CA369488497 |
447 | F>L | No |
ClinGen TOPMed |
|
|
CA369488509 rs1375588764 |
448 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1470994649 CA369488557 |
455 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA369488558 rs1470994649 |
455 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs139832815 CA167698586 |
456 | M>I | No |
ClinGen ESP gnomAD |
|
|
rs751826842 CA4500643 |
456 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs751826842 CA4500642 |
456 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA4500646 rs756256766 |
462 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1323380864 CA369488617 |
463 | G>D | No |
ClinGen gnomAD |
|
|
rs375328770 CA4500647 |
463 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201605223 COSM1085937 CA4500651 |
464 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA167698587 rs202195493 |
465 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs202195493 CA369488628 |
465 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1328611989 CA369488636 |
466 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 466 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with P08172
Functions
15 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| asymmetric synapse | A type of synapse occurring between an axon and a dendritic spine or dendritic shaft. Asymmetric synapses, the most abundant synapse type in the central nervous system, involve axons that contain predominantly spherical vesicles and contain a thickened postsynaptic density. Most or all synapses of this type are excitatory. |
| axon terminus | Terminal inflated portion of the axon, containing the specialized apparatus necessary to release neurotransmitters. The axon terminus is considered to be the whole region of thickening and the terminal button is a specialized region of it. |
| cholinergic synapse | A synapse that uses acetylcholine as a neurotransmitter. |
| clathrin-coated endocytic vesicle membrane | The lipid bilayer surrounding a clathrin-coated endocytic vesicle. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| integral component of postsynaptic membrane | The component of the postsynaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| integral component of presynaptic membrane | The component of the presynaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| neuronal cell body | The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| symmetric synapse | A synapse that lacks an electron dense postsynaptic specialization. In vertebtrates, these occur primarily on dendrite shafts and neuronal cell bodies and involve persynapses containing clusters of predominantly flattened or elongated vesicles and are typcially inhibitory. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| arrestin family protein binding | Binding to a member of the arrestin family, proteins involved in agonist-mediated desensitization of G protein-coupled receptors. |
| G protein-coupled acetylcholine receptor activity | Combining with acetylcholine and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. |
| G protein-coupled serotonin receptor activity | Combining with the biogenic amine serotonin and transmitting the signal across the membrane by activating an associated G-protein. Serotonin (5-hydroxytryptamine) is a neurotransmitter and hormone found in vertebrates and invertebrates. |
| neurotransmitter receptor activity | Combining with a neurotransmitter and transmitting the signal to initiate a change in cell activity. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway | An adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway initiated by acetylcholine binding to its receptor, and ending with the regulation of a downstream cellular process. |
| adenylate cyclase-modulating G protein-coupled receptor signaling pathway | A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation or inhibition of adenylyl cyclase activity and a subsequent change in the intracellular concentration of cyclic AMP (cAMP). |
| chemical synaptic transmission | The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| G protein-coupled acetylcholine receptor signaling pathway | A G protein-coupled receptor signaling pathway initiated by a ligand binding to an acetylcholine receptor on the surface of a target cell, and ends with regulation of a downstream cellular process, e.g. transcription. |
| G protein-coupled receptor signaling pathway | The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. |
| G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger | A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation or inhibition of a nucleotide cyclase activity and a subsequent change in the concentration of a cyclic nucleotide. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
| phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway | A phospholipase C-activating G protein-coupled receptor signaling pathway initiated by acetylcholine binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| regulation of heart contraction | Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process in which the heart decreases in volume in a characteristic way to propel blood through the body. |
| regulation of smooth muscle contraction | Any process that modulates the frequency, rate or extent of smooth muscle contraction. |
| regulation of synaptic vesicle exocytosis | Any process that modulates the frequency, rate or extent of synaptic vesicle exocytosis. |
| response to virus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus. |
29 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P30546 | HRH1 | Histamine H1 receptor | Bos taurus (Bovine) | PR |
| P41984 | CHRM3 | Muscarinic acetylcholine receptor M3 | Bos taurus (Bovine) | PR |
| P41985 | CHRM2 | Muscarinic acetylcholine receptor M2 | Bos taurus (Bovine) | PR |
| P17200 | CHRM4 | Muscarinic acetylcholine receptor M4 | Gallus gallus (Chicken) | PR |
| P49578 | CHRM3 | Muscarinic acetylcholine receptor M3 | Gallus gallus (Chicken) | PR |
| P30372 | CHRM2 | Muscarinic acetylcholine receptor M2 | Gallus gallus (Chicken) | PR |
| Q5IS53 | CHRM5 | Muscarinic acetylcholine receptor M5 | Pan troglodytes (Chimpanzee) | PR |
| P08173 | CHRM4 | Muscarinic acetylcholine receptor M4 | Homo sapiens (Human) | PR |
| P08912 | CHRM5 | Muscarinic acetylcholine receptor M5 | Homo sapiens (Human) | PR |
| P20309 | CHRM3 | Muscarinic acetylcholine receptor M3 | Homo sapiens (Human) | PR |
| P35367 | HRH1 | Histamine H1 receptor | Homo sapiens (Human) | PR |
| P08908 | HTR1A | 5-hydroxytryptamine receptor 1A | Homo sapiens (Human) | PR |
| Q9H3N8 | HRH4 | Histamine H4 receptor | Homo sapiens (Human) | PR |
| P11229 | CHRM1 | Muscarinic acetylcholine receptor M1 | Homo sapiens (Human) | PR |
| P70174 | Hrh1 | Histamine H1 receptor | Mus musculus (Mouse) | PR |
| P12657 | Chrm1 | Muscarinic acetylcholine receptor M1 | Mus musculus (Mouse) | PR |
| P32211 | Chrm4 | Muscarinic acetylcholine receptor M4 | Mus musculus (Mouse) | PR |
| Q920H4 | Chrm5 | Muscarinic acetylcholine receptor M5 | Mus musculus (Mouse) | PR |
| Q9ERZ3 | Chrm3 | Muscarinic acetylcholine receptor M3 | Mus musculus (Mouse) | PR |
| Q9ERZ4 | Chrm2 | Muscarinic acetylcholine receptor M2 | Mus musculus (Mouse) | PR |
| P04761 | CHRM1 | Muscarinic acetylcholine receptor M1 | Sus scrofa (Pig) | PR |
| P06199 | CHRM2 | Muscarinic acetylcholine receptor M2 | Sus scrofa (Pig) | PR |
| P31390 | Hrh1 | Histamine H1 receptor | Rattus norvegicus (Rat) | PR |
| P08482 | Chrm1 | Muscarinic acetylcholine receptor M1 | Rattus norvegicus (Rat) | PR |
| P08483 | Chrm3 | Muscarinic acetylcholine receptor M3 | Rattus norvegicus (Rat) | PR |
| P08911 | Chrm5 | Muscarinic acetylcholine receptor M5 | Rattus norvegicus (Rat) | PR |
| P56489 | CHRM1 | Muscarinic acetylcholine receptor M1 | Macaca mulatta (Rhesus macaque) | PR |
| P56490 | CHRM5 | Muscarinic acetylcholine receptor M5 | Macaca mulatta (Rhesus macaque) | PR |
| Q9U7D5 | gar-3 | Muscarinic acetylcholine receptor gar-3 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNNSTNSSNN | SLALTSPYKT | FEVVFIVLVA | GSLSLVTIIG | NILVMVSIKV | NRHLQTVNNY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FLFSLACADL | IIGVFSMNLY | TLYTVIGYWP | LGPVVCDLWL | ALDYVVSNAS | VMNLLIISFD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RYFCVTKPLT | YPVKRTTKMA | GMMIAAAWVL | SFILWAPAIL | FWQFIVGVRT | VEDGECYIQF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FSNAAVTFGT | AIAAFYLPVI | IMTVLYWHIS | RASKSRIKKD | KKEPVANQDP | VSPSLVQGRI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VKPNNNNMPS | SDDGLEHNKI | QNGKAPRDPV | TENCVQGEEK | ESSNDSTSVS | AVASNMRDDE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ITQDENTVST | SLGHSKDENS | KQTCIRIGTK | TPKSDSCTPT | NTTVEVVGSS | GQNGDEKQNI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VARKIVKMTK | QPAKKKPPPS | REKKVTRTIL | AILLAFIITW | APYNVMVLIN | TFCAPCIPNT |
| 430 | 440 | 450 | 460 | ||
| VWTIGYWLCY | INSTINPACY | ALCNATFKKT | FKHLLMCHYK | NIGATR |