Q96SN7
Gene name |
ORAI2 (C7orf19, CBCIP2, TMEM142B, PP1729) |
Protein name |
Protein orai-2 |
Names |
CAP-binding protein complex-interacting protein 2, Transmembrane protein 142B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:80228 |
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
1 structures for Q96SN7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96SN7-F1 | Predicted | AlphaFoldDB |
181 variants for Q96SN7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA368693354 rs1217516417 |
2 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs762289307 CA4412934 |
2 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368693410 rs1325646203 |
3 | A>T | No |
ClinGen gnomAD |
|
|
rs765364777 CA4412935 |
5 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4412937 rs375636106 |
7 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1586709059 CA368693584 |
10 | D>A | No |
ClinGen Ensembl |
|
|
CA368693581 rs751764863 |
10 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA4412939 rs751764863 |
10 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs754858060 CA4412941 |
11 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368693647 rs1431521667 |
12 | S>T | No |
ClinGen gnomAD |
|
|
rs767396764 CA4412942 |
13 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs998270514 CA163419675 COSM1635024 |
13 | A>V | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs34947403 VAR_053543 CA4412943 |
15 | A>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1400623556 CA368693774 |
16 | C>Y | No |
ClinGen gnomAD |
|
|
rs149749759 CA163419686 |
17 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4412944 rs149749759 |
17 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1547506 CA368693843 rs1340787777 |
19 | P>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs201916492 CA4412947 |
20 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368693882 rs1233265268 |
21 | H>Y | No |
ClinGen gnomAD |
|
|
CA4412950 rs769061106 |
22 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4412951 rs145092754 |
23 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748442406 CA4412952 |
24 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1032474938 CA163419743 |
24 | M>T | No |
ClinGen TOPMed |
|
|
rs764959778 CA163419738 |
24 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1271239276 CA368694023 |
27 | R>Q | No |
ClinGen gnomAD |
|
|
CA368694020 rs1191770260 |
27 | R>W | No |
ClinGen gnomAD |
|
|
CA368694088 rs1586709171 |
30 | V>A | No |
ClinGen Ensembl |
|
|
COSM224944 CA4412953 rs376890782 |
31 | R>C | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA368694121 rs1198195830 |
32 | R>C | No |
ClinGen gnomAD |
|
|
rs773716007 CA4412954 |
32 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA368694306 rs1489389741 |
39 | T>A | No |
ClinGen TOPMed |
|
|
CA368694302 rs1489389741 |
39 | T>P | No |
ClinGen TOPMed |
|
|
COSM72031 CA4412955 rs762973215 |
40 | S>F | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 40 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368694348 rs1586709201 |
41 | N>T | No |
ClinGen Ensembl |
|
|
rs766451025 CA4412956 |
42 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4412958 rs759817341 |
44 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4412959 rs767488712 |
46 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752472055 CA163419787 |
48 | L>V | No |
ClinGen TOPMed |
|
|
rs1299952346 CA368694561 COSM1218895 |
49 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1241078361 CA368694606 |
51 | R>Q | No |
ClinGen gnomAD |
|
|
rs1563634517 CA368694602 |
51 | R>W | No |
ClinGen Ensembl |
|
|
CA368694633 rs1352718094 |
52 | K>R | No |
ClinGen gnomAD |
|
|
rs778467745 CA368694761 |
57 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295268010 CA368694799 |
59 | K>Q | No |
ClinGen TOPMed |
|
|
CA368694835 rs1209363834 |
61 | K>Q | No |
ClinGen gnomAD |
|
|
rs1586709301 CA368694982 |
66 | T>P | No |
ClinGen Ensembl |
|
|
rs779621605 CA4412968 |
68 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1165818339 CA368695196 |
74 | A>P | No |
ClinGen gnomAD |
|
|
CA4412971 rs778181215 |
75 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA163425156 CA163425155 rs767828985 |
78 | M>I | No |
ClinGen TOPMed |
|
|
CA4412992 rs745969579 |
85 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA368698723 rs1257480734 |
85 | T>S | No |
ClinGen gnomAD |
|
|
rs1238487367 CA368698737 |
86 | Q>* | No |
ClinGen gnomAD |
|
|
rs1364229442 CA368698749 |
87 | Y>H | No |
ClinGen TOPMed |
|
|
CA368698755 rs1586716712 |
87 | Y>S | No |
ClinGen Ensembl |
|
|
CA4412995 rs760931275 |
88 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775898267 CA4412994 |
88 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1586716724 CA368698782 |
89 | Y>S | No |
ClinGen Ensembl |
|
|
CA4412998 rs372227034 COSM421655 |
91 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4412997 rs776485301 |
91 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs765238790 CA4412999 |
92 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1422271642 CA368698814 |
92 | P>S | No |
ClinGen gnomAD |
|
|
CA368698829 rs1359615568 |
93 | L>M | No |
ClinGen gnomAD |
|
|
CA368698849 rs1465384567 |
94 | L>P | No |
ClinGen gnomAD |
|
|
CA368698901 rs1300831890 |
98 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 98 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142110959 CA4413002 |
99 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1277716736 CA368698935 |
100 | C>G | No |
ClinGen gnomAD |
|
|
rs1225362740 CA368698967 |
102 | T>M | No |
ClinGen gnomAD |
|
|
CA368698980 rs1586716809 |
103 | V>G | No |
ClinGen Ensembl |
|
|
CA4413006 rs574075338 |
107 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA368699064 rs779595593 |
111 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4413009 rs779595593 |
111 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA163425270 rs946046249 |
112 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs780272783 CA4413012 |
114 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA368699120 rs1173764567 |
115 | S>N | No |
ClinGen gnomAD |
|
|
CA368699130 rs1586716888 |
116 | T>P | No |
ClinGen Ensembl |
|
|
CA368699165 rs1420010074 |
118 | I>T | No |
ClinGen gnomAD |
|
|
CA368699188 rs1267337471 |
120 | P>S | No |
ClinGen TOPMed |
|
|
rs768932841 CA4413014 |
121 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1358801241 CA368699223 |
123 | E>K | No |
ClinGen gnomAD |
|
|
CA368699259 rs1586716922 |
125 | V>G | No |
ClinGen Ensembl |
|
|
CA4413015 rs776663542 |
125 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4413016 rs563177670 |
132 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1367582385 CA368699359 |
132 | N>S | No |
ClinGen gnomAD |
|
|
CA368699356 rs1367582385 |
132 | N>T | No |
ClinGen gnomAD |
|
|
CA4413019 rs762863120 |
134 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs773182234 CA4413018 |
134 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4413020 rs765940069 |
136 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 137 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4413021 rs773916186 |
138 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199552953 CA368699444 |
139 | H>P | No |
ClinGen 1000Genomes gnomAD |
|
|
CA368699447 rs1488155106 |
139 | H>Q | No |
ClinGen gnomAD |
|
|
CA163425317 rs199552953 |
139 | H>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA4413023 rs373008522 |
140 | E>V | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM1446877 CA4413024 rs752254400 |
141 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA368699486 rs1289497073 |
142 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA4413026 rs765678218 |
142 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs757681744 CA4413025 |
142 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA368699499 rs1331590762 |
143 | H>L | No |
ClinGen TOPMed |
|
|
rs1331590762 CA368699498 |
143 | H>P | No |
ClinGen TOPMed |
|
| TCGA novel | 144 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1407275676 CA368699537 |
145 | Y>C | No |
ClinGen gnomAD |
|
|
rs938359890 CA163425338 |
146 | I>V | No |
ClinGen Ensembl |
|
|
CA4413028 rs758973216 |
147 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368699568 rs1349369932 |
147 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1333969147 CA368699661 |
152 | F>S | No |
ClinGen gnomAD |
|
|
CA4413031 rs369139105 |
155 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA368699767 rs1229671222 |
159 | L>P | No |
ClinGen gnomAD |
|
|
rs1450549028 CA368699794 |
161 | F>S | No |
ClinGen gnomAD |
|
|
rs1458135670 CA368699828 |
164 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1164055139 CA368699890 |
172 | K>N | No |
ClinGen gnomAD |
|
|
rs1183795726 CA368699902 |
174 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA4413036 rs749014730 |
174 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA4413037 rs770868690 |
175 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs185291449 CA4413038 |
176 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA368699925 rs1446678618 |
178 | A>D | No |
ClinGen gnomAD |
|
|
CA4413039 rs201783515 |
178 | A>T | No |
ClinGen 1000Genomes ExAC |
|
|
CA4413041 rs766552086 |
179 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4413040 rs146137368 |
179 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760393100 CA4413042 |
180 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373392032 CA4413043 COSM1218894 |
180 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA368699948 rs1162288359 |
182 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA163425462 rs1031595730 |
184 | P>L | No |
ClinGen Ensembl |
|
|
CA368699955 rs1318593721 |
184 | P>T | No |
ClinGen gnomAD |
|
|
CA163425469 rs766937231 |
185 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368699964 rs766937231 |
185 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4413046 rs766937231 |
185 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755131372 CA368699966 |
186 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4413048 rs755131372 |
186 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA4413049 rs781117706 |
188 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA368699988 rs1471916681 |
190 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 191 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777914063 CA4413052 |
192 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs751979726 CA4413053 |
192 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368700016 rs1364942912 |
194 | W>* | No |
ClinGen TOPMed |
|
|
CA163425534 rs539030215 |
195 | Q>L | No |
ClinGen gnomAD |
|
|
rs965051431 CA163425541 |
196 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4413055 rs778950283 |
197 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188954926 CA368700040 |
198 | L>V | No |
ClinGen TOPMed |
|
|
rs771672896 CA4413057 |
199 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1412527471 CA368700060 |
201 | T>I | No |
ClinGen gnomAD |
|
|
rs1563639191 CA368700069 |
203 | I>V | No |
ClinGen Ensembl |
|
|
CA163425570 CA163425584 rs973528230 |
204 | M>I | No |
ClinGen TOPMed |
|
|
CA4413059 rs760199107 |
205 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA163425589 rs981766695 |
205 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs149386719 CA4413062 |
207 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA368700110 rs1484850225 |
210 | I>V | No |
ClinGen gnomAD |
|
|
CA4413065 rs759954382 |
212 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4413066 rs768000803 |
214 | F>S | No |
ClinGen ExAC |
|
|
CA4413068 rs756139303 |
215 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs754030552 CA4413070 |
216 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA163425650 rs946015117 |
218 | F>L | No |
ClinGen TOPMed |
|
|
CA4413072 rs778562970 |
220 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs745888656 CA4413073 |
220 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4413074 rs771911609 |
224 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA163425698 rs779988736 |
224 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779988736 CA4413075 |
224 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368700221 COSM1446880 rs1563639327 |
227 | T>M | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1040370027 CA163425734 |
229 | R>C | No |
ClinGen TOPMed |
|
|
CA163425739 rs1055285588 |
229 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1488067898 CA368700236 |
230 | H>Y | No |
ClinGen gnomAD |
|
|
rs776469929 CA4413078 |
231 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4413080 rs771392636 |
232 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs894171726 CA163425764 |
232 | R>H | No |
ClinGen gnomAD |
|
|
rs1393747824 CA368700253 |
233 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA4413083 rs367893276 |
235 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368700277 rs1380574411 |
236 | E>* | No |
ClinGen gnomAD |
|
|
rs1418696781 CA368700280 |
236 | E>V | No |
ClinGen gnomAD |
|
|
rs1286677677 CA368700319 |
242 | V>I | No |
ClinGen gnomAD |
|
|
rs760784577 CA4413085 |
245 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA368700340 rs1315172714 |
245 | D>Y | No |
ClinGen gnomAD |
|
|
CA4413086 rs764137329 |
246 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA368700346 CA368700345 rs1448769482 |
246 | G>R | No |
ClinGen gnomAD |
|
|
rs1563639428 CA368700360 |
248 | E>Q | No |
ClinGen Ensembl |
|
|
CA368700378 rs1237151622 |
249 | R>C | No |
ClinGen gnomAD |
|
|
CA4413087 rs754118697 |
249 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368700385 rs754118697 |
249 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757418933 CA4413088 |
252 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 252 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q96SN7
No regional properties for Q96SN7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q96SN7 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| growth cone | The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic. |
| 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| store-operated calcium channel activity | A ligand-gated ion channel activity which transports calcium in response to emptying of intracellular calcium stores. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| store-operated calcium entry | A calcium ion entry mechanism in the plasma membrane activated by the depletion of calcium ion from the internal calcium ion store in the endoplasmic reticulum. |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSAELNVPID | PSAPACPEPG | HKGMDYRDWV | RRSYLELVTS | NHHSVQALSW | RKLYLSRAKL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KASSRTSALL | SGFAMVAMVE | VQLETQYQYP | RPLLIAFSAC | TTVLVAVHLF | ALLISTCILP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NVEAVSNIHN | LNSISESPHE | RMHPYIELAW | GFSTVLGILL | FLAEVVLLCW | IKFLPVDARR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QPGPPPGPGS | HTGWQAALVS | TIIMVPVGLI | FVVFTIHFYR | SLVRHKTERH | NREIEELHKL |
| 250 | |||||
| KVQLDGHERS | LQVL |