Q99988
Gene name |
GDF15 |
Protein name |
Growth/differentiation factor 15 |
Names |
GDF-15, Macrophage inhibitory cytokine 1, MIC-1, NSAID-activated gene 1 protein, NAG-1, NSAID-regulated gene 1 protein, NRG-1, Placental TGF-beta, Placental bone morphogenetic protein, Prostate differentiation factor |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9518 |
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
5 structures for Q99988
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5VT2 | X-ray | 230 A | A/B | 197-308 | PDB |
| 5VZ3 | X-ray | 197 A | A | 197-308 | PDB |
| 5VZ4 | X-ray | 220 A | A | 197-308 | PDB |
| 6Q2J | EM | 410 A | A/B | 197-308 | PDB |
| AF-Q99988-F1 | Predicted | AlphaFoldDB |
341 variants for Q99988
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA404822660 rs1198211762 |
2 | P>A | No |
ClinGen gnomAD |
|
|
rs998533003 CA404822673 |
2 | P>L | No |
ClinGen TOPMed |
|
|
CA306201505 rs998533003 |
2 | P>R | No |
ClinGen TOPMed |
|
|
rs932237910 CA306201512 |
3 | G>R | No |
ClinGen TOPMed |
|
|
rs1600248576 CA404822716 |
4 | Q>K | No |
ClinGen Ensembl |
|
|
rs373073926 CA9310606 |
4 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404822804 rs1170820505 |
7 | R>G | No |
ClinGen gnomAD |
|
|
CA404822821 rs1426627214 |
7 | R>S | No |
ClinGen gnomAD |
|
|
CA404822843 rs772697815 |
8 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772697815 CA9310608 |
8 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404822846 rs772697815 |
8 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760810398 CA9310610 |
9 | V>G | No |
ClinGen ExAC gnomAD |
|
|
VAR_047646 CA9310609 rs1059519 |
9 | V>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA404822851 rs1059519 |
9 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404822912 rs1600248628 |
12 | S>F | No |
ClinGen Ensembl |
|
|
rs1358419765 COSM347564 CA404823751 |
13 | Q>* | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA9310611 rs766308906 CA404823834 |
14 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404823867 rs376302581 |
17 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376302581 CA9310614 |
17 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404823883 rs751332608 |
19 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA9310616 rs757242849 |
19 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA404823909 rs1249695193 |
21 | L>F | No |
ClinGen TOPMed |
|
|
CA9310617 rs767447445 |
21 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1320197814 CA404823930 |
23 | W>R | No |
ClinGen gnomAD |
|
| TCGA novel | 24 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404823972 rs1250971253 |
25 | P>Q | No |
ClinGen gnomAD |
|
|
CA404824007 rs1600248678 |
26 | H>Q | No |
ClinGen Ensembl |
|
|
rs577008845 CA306201585 |
27 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs779393592 CA9310620 |
28 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs556247365 CA306201589 |
33 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
CA404824127 rs1318212458 |
33 | A>V | No |
ClinGen Ensembl |
|
|
rs201695537 CA404824129 |
34 | E>K | No |
ClinGen gnomAD |
|
|
rs201695537 CA306201592 |
34 | E>Q | No |
ClinGen gnomAD |
|
|
CA404824164 rs754567391 |
35 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM711115 CA9310622 rs754567391 |
35 | A>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA306201617 rs772493789 |
37 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9310627 rs772493789 |
37 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399949448 CA404824216 |
38 | A>S | No |
ClinGen gnomAD |
|
|
rs1399949448 CA404824211 |
38 | A>T | No |
ClinGen gnomAD |
|
|
CA9310629 rs151271136 |
38 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404824253 rs1405073661 |
39 | S>R | No |
ClinGen TOPMed |
|
|
CA9310630 rs771076187 |
41 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306201620 rs897596081 |
41 | P>T | No |
ClinGen TOPMed |
|
|
rs1158426625 CA404824319 |
43 | P>S | No |
ClinGen TOPMed |
|
|
rs765432235 CA9310633 |
44 | S>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA306201629 rs181859786 |
44 | S>T | No |
ClinGen 1000Genomes |
|
|
CA404824352 rs1207800158 |
45 | E>* | No |
ClinGen gnomAD |
|
|
CA404824404 rs1490475773 |
47 | H>R | No |
ClinGen gnomAD |
|
|
rs1059369 CA9310638 |
48 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1059369 CA404824415 |
48 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1059369 CA9310637 VAR_010386 |
48 | S>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9310640 rs753270463 |
49 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9310641 rs753270463 |
49 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 52 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758859571 CA9310644 |
53 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs747749674 CA9310643 |
53 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA404824498 rs1296935039 |
54 | R>Q | No |
ClinGen gnomAD |
|
|
rs16982331 CA306201658 |
55 | E>* | No |
ClinGen gnomAD |
|
|
rs16982331 CA404824504 |
55 | E>K | No |
ClinGen gnomAD |
|
|
rs747593548 CA9310646 |
57 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1034279886 CA306201665 |
61 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA404824582 rs1034279886 |
61 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs201533332 CA9310648 |
62 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9310647 rs771321013 |
62 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs745931308 CA9310649 |
63 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA404824647 rs1283856244 |
64 | L>P | No |
ClinGen gnomAD |
|
|
rs560248639 CA404824722 |
68 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9310652 rs560248639 |
68 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9310651 rs775710896 |
68 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs370093085 CA306201678 |
70 | N>D | No |
ClinGen ESP |
|
|
CA9310653 rs771892633 |
71 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs771892633 CA404824782 |
71 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA404824813 rs1315395520 |
72 | S>N | No |
ClinGen TOPMed |
|
|
rs772858793 CA9310654 |
74 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404824866 rs1439525682 |
75 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1439525682 CA404824871 |
75 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs752145500 CA306201692 |
76 | S>L | No |
ClinGen TOPMed |
|
|
rs1288480990 CA404824892 |
76 | S>P | No |
ClinGen TOPMed |
|
|
CA404824908 rs1424168606 |
77 | N>H | No |
ClinGen gnomAD |
|
|
CA404824918 rs1362966528 |
77 | N>I | No |
ClinGen gnomAD |
|
|
rs1031367149 CA306201693 |
78 | T>A | No |
ClinGen TOPMed |
|
|
rs753738649 CA9310658 |
79 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9310659 rs372819877 |
80 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1397997585 CA404824946 |
81 | V>I | No |
ClinGen gnomAD |
|
|
rs752431818 CA9310661 |
82 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs758095463 CA9310662 |
82 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs751857872 CA9310664 |
83 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404824975 rs1568330437 |
83 | A>V | No |
ClinGen Ensembl |
|
|
rs1239753092 CA404824985 |
84 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA404824994 rs1254899429 |
85 | A>S | No |
ClinGen gnomAD |
|
|
rs1201798835 CA404825031 |
87 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA404825027 rs1201798835 |
87 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs757849452 CA9310665 |
87 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 89 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA306201708 rs1022747118 |
90 | T>A | No |
ClinGen TOPMed |
|
|
CA9310667 rs114827523 |
90 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA306201709 COSM1391675 rs114827523 |
90 | T>M | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9310669 rs769891685 |
92 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA404826620 rs1416028433 |
93 | V>A | No |
ClinGen gnomAD |
|
|
rs1375964470 CA404825107 |
93 | V>M | No |
ClinGen gnomAD |
|
|
rs887933376 CA404826627 |
94 | R>L | No |
ClinGen gnomAD |
|
|
rs887933376 CA306202403 |
94 | R>Q | No |
ClinGen gnomAD |
|
|
CA9310702 rs773905547 |
94 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1164000550 CA404826649 |
96 | G>* | No |
ClinGen gnomAD |
|
|
rs1417791337 CA404826664 |
97 | S>A | No |
ClinGen gnomAD |
|
| TCGA novel | 97 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750770077 CA9310706 |
97 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9310708 rs766872918 |
98 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404826680 rs1300768626 |
98 | G>V | No |
ClinGen gnomAD |
|
|
rs1600250470 CA404826686 |
99 | G>S | No |
ClinGen Ensembl |
|
|
CA404826703 rs1308998520 |
100 | H>Q | No |
ClinGen gnomAD |
|
|
rs1226039436 CA404826712 |
101 | L>Q | No |
ClinGen gnomAD |
|
|
rs1226039436 CA404826715 |
101 | L>R | No |
ClinGen gnomAD |
|
|
rs146900068 CA9310711 |
101 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404826724 rs1441952732 |
102 | H>N | No |
ClinGen gnomAD |
|
| TCGA novel | 103 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9310713 rs758627025 |
104 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1208250839 CA404826749 |
104 | R>S | No |
ClinGen gnomAD |
|
|
rs1416620245 CA404826789 |
106 | S>F | No |
ClinGen TOPMed |
|
|
CA306202427 rs545070690 |
107 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9310714 rs545070690 |
107 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1406273349 CA404826790 |
107 | R>W | No |
ClinGen TOPMed |
|
|
CA9310716 rs769647608 |
109 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9310717 rs769647608 |
109 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332446576 CA404826812 |
110 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA9310720 rs773889399 |
111 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773889399 CA404826835 |
111 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768091168 CA9310719 |
111 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1524373 rs1173385580 CA404826843 |
112 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA9310723 rs143208531 |
114 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000961633 rs147994992 CA9310725 |
117 | A>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
RCV000961632 rs143520034 CA9310724 |
117 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs147994992 CA404826929 |
117 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1280691975 CA404826942 |
118 | S>F | No |
ClinGen gnomAD |
|
|
rs754377947 CA9310726 |
118 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA404826959 rs1568330950 |
120 | L>I | No |
ClinGen Ensembl |
|
| TCGA novel | 121 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755483029 CA9310727 |
122 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA404826998 rs755483029 |
122 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA404826992 rs1344948507 |
122 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA306202456 rs999689035 |
123 | A>P | No |
ClinGen Ensembl |
|
|
CA9310728 rs765285195 |
125 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758615517 CA9310730 |
130 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA404827105 rs1183753258 |
131 | A>T | No |
ClinGen gnomAD |
|
|
rs957856329 CA306202482 |
131 | A>V | No |
ClinGen Ensembl |
|
|
CA404827137 rs1200216920 |
133 | R>G | No |
ClinGen gnomAD |
|
|
CA404827141 rs1303455631 |
133 | R>K | No |
ClinGen TOPMed |
|
|
CA404827160 rs115985081 |
134 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9310732 rs115985081 |
134 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA306202529 rs965305026 |
135 | W>C | No |
ClinGen Ensembl |
|
|
CA404827197 rs1343990216 |
136 | D>G | No |
ClinGen TOPMed |
|
|
rs1430871501 CA404827190 |
136 | D>N | No |
ClinGen gnomAD |
|
|
rs1169563590 CA404827286 |
141 | L>Q | No |
ClinGen gnomAD |
|
|
rs1411951062 CA404827362 |
145 | L>F | No |
ClinGen gnomAD |
|
|
CA9310736 rs774973928 |
146 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778350753 CA9310738 |
148 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA404827474 rs1285255577 |
149 | R>K | No |
ClinGen gnomAD |
|
|
rs747695479 CA9310739 |
150 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1218224466 CA404827510 |
151 | Q>K | No |
ClinGen gnomAD |
|
|
CA404827538 rs950779565 |
152 | A>E | No |
ClinGen gnomAD |
|
|
CA404827530 rs1256342127 |
152 | A>T | No |
ClinGen gnomAD |
|
|
rs950779565 CA306202573 |
152 | A>V | No |
ClinGen gnomAD |
|
|
CA404827553 rs1483942184 |
153 | P>S | No |
ClinGen TOPMed |
|
|
rs771508425 CA9310740 |
154 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1197265780 CA404827604 |
156 | H>N | No |
ClinGen gnomAD |
|
|
rs1600250727 CA404827606 |
156 | H>P | No |
ClinGen Ensembl |
|
|
rs1270370468 CA404827622 |
157 | L>Q | No |
ClinGen gnomAD |
|
|
CA404827656 rs1287845577 |
160 | S>L | No |
ClinGen TOPMed |
|
|
rs771328712 CA9310744 |
161 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs865796194 CA306202596 |
162 | P>T | No |
ClinGen Ensembl |
|
|
rs942188038 CA306202624 |
163 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA306202621 rs942188038 |
163 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs199679850 CA9310748 |
163 | P>S | No |
ClinGen ESP ExAC TOPMed |
|
|
CA404827714 rs1305531519 |
164 | S>L | No |
ClinGen gnomAD |
|
|
rs1423287197 CA404827706 |
164 | S>P | No |
ClinGen gnomAD |
|
|
CA404827732 rs1171704885 |
165 | Q>H | No |
ClinGen gnomAD |
|
|
CA404827728 rs1399435434 |
165 | Q>P | No |
ClinGen gnomAD |
|
|
CA404827746 rs764221522 |
167 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA9310751 rs764221522 |
167 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA404827759 rs916807142 |
168 | Q>* | No |
ClinGen gnomAD |
|
|
rs916807142 CA306202630 |
168 | Q>K | No |
ClinGen gnomAD |
|
|
rs1270544537 CA404827767 |
168 | Q>R | No |
ClinGen gnomAD |
|
|
CA404827822 rs1399995175 |
171 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs757529602 CA9310754 |
172 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9310755 rs780049947 |
173 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs754659172 CA9310757 |
174 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9310756 rs753661154 |
174 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs754659172 CA404827899 |
174 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs961978156 CA306202635 |
175 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA404827905 rs961978156 |
175 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs868226602 CA306202640 |
175 | S>Y | No |
ClinGen Ensembl |
|
|
rs868867596 CA404827937 |
176 | A>P | No |
ClinGen TOPMed |
|
|
rs868867596 CA306202649 |
176 | A>T | No |
ClinGen TOPMed |
|
|
rs1387315227 CA404828035 |
181 | E>* | No |
ClinGen gnomAD |
|
|
rs1283071954 CA404828060 |
182 | L>V | No |
ClinGen gnomAD |
|
|
CA404828076 rs1265222166 |
183 | H>N | No |
ClinGen TOPMed |
|
|
rs1333809198 CA404828110 |
184 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA404828163 rs770559920 |
186 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9310763 rs770559920 |
186 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs770559920 CA404828139 |
186 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs746717245 CA9310762 |
186 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9310765 rs552234112 |
187 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9310767 CA306202686 rs776087601 |
187 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9310766 rs769997784 |
187 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA9310769 rs764317780 |
189 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9310772 rs762192147 |
191 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1459703261 CA404828285 |
191 | G>R | No |
ClinGen gnomAD |
|
| rs1254999181 | 192 | R>A | Variant assessed as Somatic; 6.686e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404828329 rs1386618349 |
192 | R>H | No |
ClinGen TOPMed |
|
|
rs1053928509 CA306202720 |
193 | R>H | No |
ClinGen TOPMed |
|
|
CA9310776 rs754819829 |
193 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404828361 rs1172103008 |
194 | R>G | No |
ClinGen gnomAD |
|
|
CA404828363 rs1404100401 |
194 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1383342718 CA404828403 |
196 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1338442890 CA404828395 |
196 | R>S | No |
ClinGen gnomAD |
|
|
rs1390719432 CA404828437 |
197 | A>V | No |
ClinGen gnomAD |
|
|
CA404828473 rs1239054652 |
198 | R>H | No |
ClinGen gnomAD |
|
|
rs1318690635 CA404828460 |
198 | R>S | No |
ClinGen gnomAD |
|
|
CA306202723 rs765249148 |
199 | N>S | No |
ClinGen Ensembl |
|
|
CA9310779 rs565768917 |
200 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs565768917 CA9310780 |
200 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404828575 rs1194594571 |
201 | D>V | No |
ClinGen gnomAD |
|
|
rs534464462 CA9310781 |
201 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
VAR_047647 CA9310783 rs1058587 |
202 | H>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA404828611 rs1175869015 |
202 | H>R | No |
ClinGen gnomAD |
|
|
CA9310784 rs1058587 |
202 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404828701 rs745462168 |
204 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9310785 rs745462168 |
204 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1420213194 CA404828649 |
204 | P>S | No |
ClinGen gnomAD |
|
|
rs749868105 CA9310788 |
206 | G>R | Variant assessed as Somatic; 0.0001976 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1600251082 CA404828767 |
206 | G>V | No |
ClinGen Ensembl |
|
|
CA9310789 rs769279586 |
207 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA404828771 rs1461252886 |
207 | P>T | No |
ClinGen gnomAD |
|
|
rs761995859 CA9310791 |
208 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA404828846 rs1343138359 |
209 | R>C | No |
ClinGen gnomAD |
|
|
rs368079673 CA9310793 |
209 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368079673 CA404828853 |
209 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1018774041 CA306202786 |
210 | C>* | No |
ClinGen Ensembl |
|
|
CA9310794 rs760774572 |
210 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA9310795 rs372120002 |
211 | C>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372120002 CA404828920 |
211 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404828961 rs752480227 |
212 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9310796 rs752480227 |
212 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306202793 rs752480227 |
212 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306202806 rs1025597874 |
213 | L>Q | No |
ClinGen TOPMed |
|
|
rs1332074995 CA404829045 |
214 | H>L | No |
ClinGen TOPMed |
|
|
rs751442752 CA9310799 |
216 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9310801 rs780528900 |
217 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745582302 CA404829136 |
217 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9310802 rs745582302 |
217 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780528900 CA404829130 |
217 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404829168 rs1356128295 |
218 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA404829158 rs1168041072 |
218 | A>S | No |
ClinGen gnomAD |
|
|
CA404829172 rs1356128295 |
218 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1462402678 CA404829189 |
220 | L>V | No |
ClinGen gnomAD |
|
|
CA404829215 rs1363658256 |
221 | E>D | No |
ClinGen gnomAD |
|
|
CA404829197 rs1302522939 |
221 | E>K | No |
ClinGen gnomAD |
|
|
rs755708694 CA9310803 |
222 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs537315987 CA404829287 |
224 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9310804 rs537315987 |
224 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749673730 CA9310805 |
226 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA404829360 rs1222511142 |
227 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9310807 rs775018710 |
228 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1308489721 CA404829407 |
228 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9310808 rs748621260 |
231 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs773146712 CA9310810 |
233 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9310811 rs761020016 |
235 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs766507873 CA9310812 |
236 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404829593 rs1346390319 |
237 | V>A | No |
ClinGen TOPMed |
|
|
rs776770993 CA9310813 |
237 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA404829701 rs1383227693 |
241 | I>T | No |
ClinGen gnomAD |
|
|
rs887907177 CA306202873 |
242 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA404829784 rs186369683 |
244 | C>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1290317662 CA404829801 |
245 | P>R | No |
ClinGen gnomAD |
|
|
rs751528957 CA9310816 |
245 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1452323772 CA404829815 |
246 | S>C | No |
ClinGen gnomAD |
|
|
rs1313391826 CA404829825 |
246 | S>N | No |
ClinGen gnomAD |
|
|
CA404829841 rs1362204548 |
246 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA404829852 rs1247431608 |
247 | Q>* | No |
ClinGen gnomAD |
|
|
rs1064601 CA306202903 |
249 | R>G | No |
ClinGen TOPMed |
|
|
CA9310817 rs761625643 |
249 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA404829899 rs1064601 |
249 | R>W | No |
ClinGen TOPMed |
|
|
rs767111447 CA9310818 |
250 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA404829920 rs1218062940 |
250 | A>V | No |
ClinGen gnomAD |
|
|
rs1337051892 CA404829951 |
251 | A>G | No |
ClinGen TOPMed |
|
|
CA9310819 rs749896240 |
251 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9310820 rs755582196 |
253 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755582196 CA404829985 |
253 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404830004 rs1241109830 |
254 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA404830010 rs1241109830 |
254 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1015065704 CA404830038 |
255 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs779865510 CA9310821 |
255 | A>T | No |
ClinGen ExAC TOPMed |
|
|
rs1015065704 CA306202928 |
255 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 257 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1406581694 CA404830119 |
260 | S>N | No |
ClinGen gnomAD |
|
|
rs150500439 CA9310822 |
260 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1160695990 CA404830134 |
261 | L>V | No |
ClinGen gnomAD |
|
|
CA404830172 rs755423018 |
263 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs755423018 CA9310823 |
263 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1451538876 CA404830189 |
264 | L>P | No |
ClinGen gnomAD |
|
|
rs1453966055 CA404830209 |
266 | P>T | No |
ClinGen gnomAD |
|
|
CA9310825 rs748711062 |
267 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA404830255 rs772448360 |
268 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9310826 rs772448360 |
268 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285055872 CA404830277 |
270 | P>S | No |
ClinGen gnomAD |
|
|
CA9310828 rs115987783 |
271 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA306202986 rs11556750 |
272 | P>H | No |
ClinGen Ensembl |
|
|
rs916754669 CA404830302 |
272 | P>S | No |
ClinGen gnomAD |
|
|
rs916754669 CA306202985 |
272 | P>T | No |
ClinGen gnomAD |
|
|
rs759715270 CA404830348 |
275 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759715270 CA9310831 |
275 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9310834 rs761874696 |
277 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA404830388 rs1468539589 |
277 | A>T | No |
ClinGen gnomAD |
|
|
rs761874696 CA404830393 |
277 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA404830409 rs1408165090 |
278 | S>N | No |
ClinGen gnomAD |
|
|
rs1468936594 COSM1253149 CA404830448 |
280 | N>S | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1173873075 CA404830472 |
281 | P>S | No |
ClinGen gnomAD |
|
|
COSM1666231 CA306202997 rs953273050 |
282 | M>I | eye [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1407868373 CA404830482 |
282 | M>L | No |
ClinGen gnomAD |
|
|
rs750316256 CA9310836 |
283 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA9310835 rs200847341 |
283 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760121803 CA9310837 |
284 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA306203027 rs766555165 |
287 | K>Q | No |
ClinGen TOPMed |
|
|
CA404830640 rs765943532 |
288 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9310838 rs765943532 |
288 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA9310839 rs753582192 |
290 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1200751596 CA404830691 |
291 | G>R | No |
ClinGen gnomAD |
|
|
rs754651673 CA9310840 |
292 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754651673 CA404830705 |
292 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1238973 rs1206587263 CA404830728 |
293 | S>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1206587263 CA404830734 |
293 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA404830803 rs1479795526 |
296 | T>A | No |
ClinGen gnomAD |
|
|
rs1398024462 CA404830847 |
297 | Y>* | No |
ClinGen TOPMed |
|
|
CA404830902 rs1430885698 |
299 | D>G | No |
ClinGen gnomAD |
|
|
CA9310843 rs758727175 |
299 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367741987 CA9310844 |
303 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9310845 rs747501744 |
304 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9310846 rs770946968 |
305 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA9310847 rs372617009 |
306 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1053471806 CA306203061 |
307 | C>R | No |
ClinGen Ensembl |
|
|
CA404831122 rs1403138782 |
309 | I>G | No |
ClinGen gnomAD |
1 associated diseases with Q99988
Without disease ID
1 regional properties for Q99988
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Transforming growth factor-beta, C-terminal | 193 - 308 | IPR001839 |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| BMP receptor binding | Binding to a BMP receptor. |
| cytokine activity | The activity of a soluble extracellular gene product that interacts with a receptor to effect a change in the activity of the receptor to control the survival, growth, differentiation and effector function of tissues and cells. |
| growth factor activity | The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| BMP signaling pathway | The series of molecular signals initiated by the binding of a member of the BMP (bone morphogenetic protein) family to a receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| cell-cell signaling | Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions. |
| glial cell-derived neurotrophic factor receptor signaling pathway | The series of molecular signals initiated by a ligand binding to a glial cell-derived neurotrophic factor receptor. |
| negative regulation of growth hormone receptor signaling pathway | Any process that decreases the rate, frequency or extent of the growth hormone receptor signaling pathway. The growth hormone receptor signaling pathway is the series of molecular signals generated as a consequence of growth hormone receptor binding to its physiological ligand. |
| negative regulation of multicellular organism growth | Any process that stops, prevents, or reduces the frequency, rate or extent of growth of an organism to reach its usual body size. |
| positive regulation of MAPK cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade. |
| positive regulation of myoblast fusion | Any process that activates or increases the frequency, rate or extent of myoblast fusion. |
| positive regulation of pathway-restricted SMAD protein phosphorylation | Any process that increases the rate, frequency or extent of pathway-restricted SMAD protein phosphorylation. Pathway-restricted SMAD proteins and common-partner SMAD proteins are involved in the transforming growth factor beta receptor signaling pathways. |
| positive regulation of protein kinase B signaling | Any process that activates or increases the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B. |
| reduction of food intake in response to dietary excess | An eating behavior process whereby detection of a dietary excess results in a decrease in intake of nutrients. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| SMAD protein signal transduction | The cascade of processes by which a signal interacts with a receptor, causing a change in the activity of a SMAD protein, and ultimately effecting a change in the functioning of the cell. |
| transforming growth factor beta receptor signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to a transforming growth factor beta receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P21214 | TGFB2 | Transforming growth factor beta-2 proprotein | Bos taurus (Bovine) | PR |
| P30371 | TGFB2 | Transforming growth factor beta-2 proprotein | Gallus gallus (Chicken) | PR |
| P05111 | INHA | Inhibin alpha chain | Homo sapiens (Human) | PR |
| P61812 | TGFB2 | Transforming growth factor beta-2 proprotein | Homo sapiens (Human) | PR |
| P27090 | Tgfb2 | Transforming growth factor beta-2 proprotein | Mus musculus (Mouse) | PR |
| Q07257 | Tgfb2 | Transforming growth factor beta-2 proprotein | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPGQELRTVN | GSQMLLVLLV | LSWLPHGGAL | SLAEASRASF | PGPSELHSED | SRFRELRKRY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EDLLTRLRAN | QSWEDSNTDL | VPAPAVRILT | PEVRLGSGGH | LHLRISRAAL | PEGLPEASRL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HRALFRLSPT | ASRSWDVTRP | LRRQLSLARP | QAPALHLRLS | PPPSQSDQLL | AESSSARPQL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ELHLRPQAAR | GRRRARARNG | DHCPLGPGRC | CRLHTVRASL | EDLGWADWVL | SPREVQVTMC |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IGACPSQFRA | ANMHAQIKTS | LHRLKPDTVP | APCCVPASYN | PMVLIQKTDT | GVSLQTYDDL |
| LAKDCHCI |