Q86XQ3
PR
Gene name |
CATSPER3 |
Protein name |
Cation channel sperm-associated protein 3 |
Names |
CatSper3, Ca(v)-like protein, One-repeat calcium channel-like protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:347732 |
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 Q86XQ3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q86XQ3-F1 | Predicted | AlphaFoldDB |
345 variants for Q86XQ3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs140980095 CA3417100 |
5 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768955658 CA3417101 |
5 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762542519 CA3417102 |
6 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1370415252 CA361463777 |
6 | H>Y | No |
ClinGen gnomAD |
|
|
CA128402227 rs1017243969 |
7 | Q>E | No |
ClinGen Ensembl |
|
|
rs1317339022 CA361463787 |
7 | Q>H | No |
ClinGen gnomAD |
|
|
CA3417104 rs751009312 |
8 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143499103 CA3417105 |
8 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs751009312 CA361463789 |
8 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3417106 rs377374613 |
10 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs377374613 CA3417107 |
10 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 11 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199834195 CA3417109 |
14 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3417110 rs146743855 |
15 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772232918 CA3417111 |
15 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1219418849 CA361463844 |
17 | P>S | No |
ClinGen TOPMed |
|
|
CA361463864 rs1483606460 |
20 | T>A | No |
ClinGen gnomAD |
|
|
CA3417113 rs182615793 |
21 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs140513119 CA3417114 |
22 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 22 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA128402237 rs770846940 |
22 | S>T | No |
ClinGen Ensembl |
|
|
rs1189550922 CA361463900 |
26 | C>F | No |
ClinGen gnomAD |
|
|
CA361463902 rs1189550922 |
26 | C>Y | No |
ClinGen gnomAD |
|
|
CA361463912 rs1464530197 |
28 | T>A | No |
ClinGen TOPMed |
|
|
rs776337490 CA3417116 |
28 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs759353735 CA3417117 |
29 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757144500 CA3417134 |
33 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA361463984 rs1229299047 |
36 | D>G | No |
ClinGen gnomAD |
|
|
rs574831794 CA3417135 |
36 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745636557 CA3417136 |
37 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480050751 CA361463995 |
38 | E>K | No |
ClinGen Ensembl |
|
|
rs1561456195 CA361464004 |
39 | C>R | No |
ClinGen Ensembl |
|
|
CA3417137 rs116119095 |
39 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA128402985 rs1041530337 |
40 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs774996033 CA3417138 |
40 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA3417139 rs200787247 |
41 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 42 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3417141 rs773873187 |
45 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761253604 CA3417142 |
46 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs773884693 CA128403012 |
47 | I>M | No |
ClinGen Ensembl |
|
|
CA361464053 rs1362039694 |
47 | I>V | No |
ClinGen TOPMed |
|
|
rs766971508 CA3417143 |
50 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145333202 CA3417145 |
50 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs145333202 CA3417144 |
50 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361464092 rs1165156792 |
52 | F>L | No |
ClinGen gnomAD |
|
|
rs765754154 CA3417146 |
53 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA361464105 rs1279804353 |
54 | I>M | No |
ClinGen TOPMed |
|
|
rs753014864 CA3417147 |
54 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1443021931 CA361464118 |
56 | M>I | No |
ClinGen gnomAD |
|
|
CA3417148 rs374256296 |
56 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1279197658 CA361464121 |
57 | I>F | No |
ClinGen gnomAD |
|
|
CA3417149 rs764251114 |
58 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs751605598 CA3417150 |
59 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs150251956 CA361464156 |
62 | S>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3417152 rs150251956 |
62 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361464160 rs1205533457 |
63 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3417154 rs756061764 |
64 | A>T | No |
ClinGen ExAC |
|
|
CA3417155 rs779835422 |
64 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3417158 rs139264127 |
65 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs973678301 CA128403077 |
67 | M>V | No |
ClinGen TOPMed |
|
|
rs1200748516 CA361464195 |
68 | A>V | No |
ClinGen TOPMed |
|
|
rs1193968234 CA361464218 |
71 | T>S | No |
ClinGen TOPMed |
|
|
rs1317905247 CA361464222 |
72 | S>C | No |
ClinGen TOPMed |
|
|
CA361464232 rs1284449552 |
73 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 74 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 75 | I>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143170274 CA3417161 |
75 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760060034 CA3417163 |
77 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs765665127 CA3417164 |
78 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3417165 rs574551964 |
78 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs765665127 CA361464264 |
78 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3417166 rs759065227 |
81 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128403148 rs1015789473 |
82 | L>P | No |
ClinGen Ensembl |
|
|
CA361464294 rs1328216112 |
83 | L>F | No |
ClinGen gnomAD |
|
|
rs147115565 CA3417168 |
83 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1247385 rs938076610 CA127984642 |
86 | S>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA3417192 rs766309810 |
86 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA361016276 rs1248461541 |
88 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 89 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778514171 CA3417195 |
90 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1379227364 CA361016339 |
92 | S>F | No |
ClinGen gnomAD |
|
|
rs1379227364 CA361016338 |
92 | S>Y | No |
ClinGen gnomAD |
|
|
CA3417197 rs758083174 |
97 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs915233632 CA127984674 |
98 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA361016445 rs1161620116 |
99 | S>Y | No |
ClinGen gnomAD |
|
|
CA3417198 rs777588115 |
100 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA127984689 rs766130783 |
100 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 102 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3417199 rs746493339 |
103 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs770384446 CA3417200 |
104 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780603109 CA3417201 |
105 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA361016594 rs1282129974 |
106 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs749703073 CA3417202 |
107 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs769212982 CA3417203 |
107 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs749703073 CA361016603 |
107 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 108 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361016715 rs1260940445 |
112 | N>D | No |
ClinGen gnomAD |
|
|
CA361016748 rs1188772947 |
113 | G>D | No |
ClinGen TOPMed |
|
|
CA127984710 rs934184077 |
113 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3417205 rs762191287 |
116 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3417206 rs772260564 |
118 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA127984723 rs112375552 |
119 | V>A | No |
ClinGen Ensembl |
|
|
CA127984730 rs1049843858 |
120 | I>F | No |
ClinGen TOPMed |
|
|
rs376472509 CA127984731 |
121 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376472509 CA361016895 |
121 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376472509 CA3417207 |
121 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144433851 CA3417208 |
122 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3417210 rs148436794 |
124 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3417211 rs759322594 |
125 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1364537113 CA361016994 |
125 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3417212 rs765296549 |
129 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361017086 rs1444904551 |
130 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1444904551 CA361017090 |
130 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs752490861 CA3417213 |
131 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361017112 COSM3661408 rs1415102459 |
132 | R>C | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA3417214 rs373627784 |
132 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373627784 CA127984754 |
132 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA361017140 rs202239089 |
133 | Q>P | No |
ClinGen 1000Genomes gnomAD |
|
|
rs202239089 CA127984755 |
133 | Q>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA3417215 rs144212034 |
134 | L>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs144212034 CA361017166 |
134 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs145959517 CA3417220 |
135 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200006595 CA3417218 |
135 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3417219 rs200006595 |
135 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139923612 CA127984835 |
136 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139923612 CA3417221 |
136 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748481281 CA3417222 |
137 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA3417223 rs772494595 |
138 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA3417224 rs377511902 |
140 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1489882370 CA361017281 |
140 | T>I | No |
ClinGen gnomAD |
|
|
CA361017270 rs377511902 |
140 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361017379 rs1418686580 |
145 | A>G | No |
ClinGen gnomAD |
|
|
rs114447625 CA3417227 |
145 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3417226 rs114447625 |
145 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1561462367 CA361017408 |
147 | G>S | No |
ClinGen Ensembl |
|
|
rs989547263 CA127984893 |
148 | M>L | No |
ClinGen gnomAD |
|
|
rs989547263 CA361017425 |
148 | M>V | No |
ClinGen gnomAD |
|
|
CA3417229 rs201208840 |
149 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1445549095 CA361017484 |
150 | S>F | No |
ClinGen gnomAD |
|
|
CA3417230 rs775604213 COSM673677 |
152 | R>C | ovary endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs762834732 CA3417231 |
152 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361017602 rs1383261705 |
157 | I>T | No |
ClinGen gnomAD |
|
|
rs1314360185 CA361017597 |
157 | I>V | No |
ClinGen gnomAD |
|
|
CA3417234 rs756823005 |
158 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA127984938 rs368860211 |
159 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
rs1344194025 CA361017644 |
161 | Q>* | No |
ClinGen gnomAD |
|
|
rs544720333 CA3417235 |
162 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1251992372 CA361017677 |
163 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 164 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755662559 CA3417237 |
164 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749881935 CA3417236 |
164 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs778365595 COSM1433207 CA3417261 |
165 | T>M | Variant assessed as Somatic; 9.24e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs757677421 CA3417263 |
169 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3417264 rs201891135 |
169 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs139800400 CA3417266 |
170 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1263611528 CA361020852 |
172 | Q>K | No |
ClinGen TOPMed |
|
|
rs768696870 CA3417269 |
173 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA361020896 rs1319175252 |
175 | Y>C | No |
ClinGen gnomAD |
|
|
CA3417270 rs774390813 |
175 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1054370152 CA127992504 |
177 | V>M | No |
ClinGen gnomAD |
|
|
rs1485159589 CA361020955 |
179 | S>F | No |
ClinGen gnomAD |
|
|
rs1205791044 CA361020974 |
181 | L>F | No |
ClinGen TOPMed |
|
|
rs771961047 CA3417272 |
182 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 182 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1196929204 CA361021006 |
183 | L>R | No |
ClinGen gnomAD |
|
|
CA3417274 rs760255193 |
184 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3417275 rs766050220 |
185 | F>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1742929 rs753293924 CA3417276 |
187 | L>F | biliary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs759096121 CA3417278 CA361021069 |
188 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA361021054 rs1303629343 |
188 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA127992535 rs202118910 |
189 | Y>* | No |
ClinGen Ensembl |
|
|
CA3417279 rs764476209 |
190 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA361021124 rs145171708 |
192 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145171708 CA3417281 |
192 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3417282 rs781559354 |
193 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA361021149 rs1311176127 |
193 | I>T | No |
ClinGen TOPMed |
|
|
rs781559354 CA361021142 |
193 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3417283 rs149130443 |
194 | L>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3417284 rs756358812 |
197 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1301045876 CA361021246 |
198 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3417286 rs780475409 |
202 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3417287 rs143295660 |
202 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3417285 rs780475409 |
202 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778702303 CA3417288 |
204 | N>D | No |
ClinGen ExAC gnomAD |
|
|
VAR_033309 rs3896260 COSM4159425 CA3417290 |
204 | N>K | thyroid [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs780180128 CA3417289 |
204 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3417291 rs141803762 |
206 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA127992607 rs749113289 |
207 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 210 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1164207126 CA361021467 |
211 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs770547827 CA3417293 |
213 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs988978501 CA127992613 |
214 | A>D | No |
ClinGen TOPMed |
|
|
CA361021516 rs1356311527 |
214 | A>P | No |
ClinGen gnomAD |
|
|
rs1252607302 CA361021544 |
215 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs759038938 CA3417295 |
217 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1371719244 CA361021603 |
218 | F>I | No |
ClinGen gnomAD |
|
|
CA3417296 rs764856124 |
220 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1274531869 CA361021762 |
224 | A>G | No |
ClinGen gnomAD |
|
|
rs1437848610 CA361021836 |
225 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361022117 rs773927198 |
226 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3417321 rs773927198 |
226 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361022120 rs773927198 |
226 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761108797 CA127992995 |
228 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761108797 CA3417323 |
228 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138583631 CA3417324 |
229 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1405815147 CA361022267 |
230 | T>I | No |
ClinGen gnomAD |
|
|
rs1405815147 CA361022248 |
230 | T>R | No |
ClinGen gnomAD |
|
|
CA361022311 rs1338946176 |
232 | L>M | No |
ClinGen TOPMed |
|
|
CA361022362 rs1320918230 |
233 | Q>R | No |
ClinGen gnomAD |
|
|
rs1327509253 CA361022376 |
234 | K>Q | No |
ClinGen gnomAD |
|
|
rs755190371 CA3417327 |
236 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA3417328 rs370175032 |
238 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141996891 CA3417330 |
239 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199772083 CA3417329 |
239 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3417332 rs141586517 |
240 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs967854280 CA127993059 |
245 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs137922828 CA3417333 |
245 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757195952 CA3417334 |
246 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 248 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361022654 rs1446392869 |
248 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs368831680 CA3417335 |
249 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1261145470 CA361022690 |
250 | I>V | No |
ClinGen gnomAD |
|
|
rs745679710 CA3417336 |
252 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA361022738 rs1200503286 |
252 | I>T | No |
ClinGen gnomAD |
|
|
CA3417337 rs1554069590 |
254 | L>P | No |
ClinGen Ensembl |
|
|
CA361022816 rs779616768 |
255 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3417340 rs779616768 |
255 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748830278 CA3417341 |
256 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA3417342 rs768343788 |
258 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774010980 CA3417343 |
261 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1316646739 CA361022940 |
262 | M>V | No |
ClinGen TOPMed |
|
|
CA3417346 rs145970080 |
264 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1240697481 CA361023010 |
265 | G>S | No |
ClinGen gnomAD |
|
|
CA361023038 rs1349612854 |
266 | V>A | No |
ClinGen gnomAD |
|
|
rs765466668 CA3417348 |
268 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA3417350 rs763074387 |
269 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs752928765 CA3417349 |
269 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA361023092 rs1364501256 |
269 | M>V | No |
ClinGen TOPMed |
|
|
rs1445267482 CA361023154 |
272 | E>Q | No |
ClinGen TOPMed |
|
|
rs141786005 CA3417381 |
273 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3417379 rs72800379 |
273 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3417380 rs72800379 |
273 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs904215301 CA127993483 |
274 | S>A | No |
ClinGen TOPMed |
|
|
CA3417382 rs146238260 |
275 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1310402121 CA361023305 |
276 | R>G | No |
ClinGen gnomAD |
|
|
CA361023315 rs1320062562 |
276 | R>I | No |
ClinGen gnomAD |
|
|
CA361023322 rs770334206 |
276 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs775674797 CA3417385 |
277 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1172225104 CA361023337 |
277 | K>R | No |
ClinGen gnomAD |
|
|
rs1317554088 CA361023361 |
278 | F>C | No |
ClinGen gnomAD |
|
|
rs369037609 CA3417386 |
280 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs562430942 CA3417387 |
280 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372723476 CA3417388 |
281 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375830682 CA3417389 |
282 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767442635 CA3417390 |
283 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA361023475 rs1407564053 |
284 | L>V | No |
ClinGen gnomAD |
|
|
CA3417391 rs773350193 |
285 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 287 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361023583 rs1170495046 |
290 | L>F | No |
ClinGen gnomAD |
|
|
rs372927854 CA127993538 |
290 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA3417392 rs372927854 |
290 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA361023597 rs1449847994 |
291 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA361023627 rs1463755563 |
293 | E>* | No |
ClinGen gnomAD |
|
|
rs142494932 CA3417393 |
294 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361023671 rs1406544179 |
296 | V>M | No |
ClinGen gnomAD |
|
|
rs151000651 CA127993562 |
300 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1060958 CA3417397 rs151000651 |
300 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs142712287 CA3417395 |
300 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA127993567 rs982295980 |
303 | E>Q | No |
ClinGen Ensembl |
|
|
CA3417400 rs139694304 |
304 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3417402 rs756527609 |
308 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA3417403 rs780658228 |
308 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769069112 CA3417405 |
310 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA361023880 rs1580917112 |
311 | I>K | No |
ClinGen Ensembl |
|
|
CA361023870 rs1325084974 |
311 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs201605110 CA127994326 |
313 | K>R | No |
ClinGen 1000Genomes |
|
| TCGA novel | 316 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3417427 rs747052955 |
318 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs771098373 COSM1486297 CA3417428 |
318 | T>I | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3417430 rs776860637 |
321 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs759476638 CA3417431 |
321 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA361024723 rs1199983621 |
322 | E>G | No |
ClinGen gnomAD |
|
|
CA361024711 rs1450474583 |
322 | E>K | No |
ClinGen gnomAD |
|
|
rs1437388117 CA361024854 |
328 | K>M | No |
ClinGen TOPMed |
|
|
rs1431330951 CA361024869 |
329 | K>E | No |
ClinGen gnomAD |
|
|
CA3417433 rs775375224 COSM1060961 |
332 | S>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3417434 rs775375224 |
332 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs143349199 CA3417436 |
337 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs147914352 CA3417435 |
337 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1236094448 CA361025063 |
338 | V>G | No |
ClinGen gnomAD |
|
|
rs761386655 CA127994402 |
340 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3417437 rs761386655 |
340 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761386655 CA361025084 |
340 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361025114 rs1414633647 |
341 | D>G | No |
ClinGen gnomAD |
|
|
CA3417438 rs373800376 |
341 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1404836193 CA361025149 |
342 | F>L | No |
ClinGen gnomAD |
|
|
rs943249469 CA127994420 |
344 | T>I | No |
ClinGen TOPMed |
|
|
CA3417439 rs749967219 |
345 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs867207499 CA127994441 |
347 | P>H | No |
ClinGen Ensembl |
|
|
CA361025223 rs1356470104 |
347 | P>T | No |
ClinGen gnomAD |
|
|
CA127994455 rs145588144 |
350 | D>G | No |
ClinGen ESP |
|
|
rs367634072 CA3417442 COSM1060962 |
350 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA361025304 rs1580917711 |
351 | I>T | No |
ClinGen Ensembl |
|
|
rs370122431 CA3417444 |
354 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201141690 CA3417445 |
355 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361025374 rs201141690 |
355 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA127994477 rs906601461 |
356 | L>M | No |
ClinGen Ensembl |
|
|
CA127994479 rs939382725 |
357 | D>V | No |
ClinGen Ensembl |
|
|
CA3417446 rs771059196 |
358 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs149182913 CA3417447 |
359 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361025424 rs1442977746 |
359 | Q>P | No |
ClinGen TOPMed |
|
|
CA361025432 rs1307748130 |
360 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs781691005 CA127994516 |
361 | T>I | No |
ClinGen Ensembl |
|
|
rs1197568928 CA361025451 |
361 | T>S | No |
ClinGen gnomAD |
|
|
CA3417448 rs745967538 |
362 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769830975 CA3417449 |
363 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1184204977 CA361025478 |
364 | H>N | No |
ClinGen gnomAD |
|
|
CA361025494 rs1236818123 |
365 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs745909994 CA3417466 |
366 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA3417467 rs745909994 |
366 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA3417468 rs780295737 |
367 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA361025624 rs1320774467 |
370 | Y>C | No |
ClinGen gnomAD |
|
|
CA127995128 rs976727719 |
370 | Y>N | No |
ClinGen TOPMed |
|
|
CA361025640 rs1360682611 |
371 | Y>F | No |
ClinGen gnomAD |
|
|
CA127995136 rs567326623 |
371 | Y>H | No |
ClinGen Ensembl |
|
|
rs1398835000 CA361025658 |
373 | I>F | No |
ClinGen gnomAD |
|
|
rs747946239 CA3417472 |
374 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1233465635 CA361025695 |
375 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 380 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772918730 CA361025742 |
380 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs772918730 CA3417474 |
380 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3417475 rs760167266 |
382 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA127995156 rs1047538400 |
383 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 383 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765814903 CA3417476 |
384 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA361025806 rs1488689191 |
385 | P>S | No |
ClinGen gnomAD |
|
|
rs148364127 CA3417477 |
386 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763473875 CA3417478 |
389 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA361025882 rs1253994073 |
391 | S>F | No |
ClinGen TOPMed |
|
|
rs541637609 CA3417480 |
394 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477241158 CA361025931 |
395 | V>A | No |
ClinGen gnomAD |
|
|
CA361025934 rs1160861461 |
396 | D>N | No |
ClinGen gnomAD |
|
|
CA361025943 rs1257987850 |
396 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 397 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361025986 rs1381448271 |
399 | K>L | No |
ClinGen gnomAD |
No associated diseases with Q86XQ3
1 regional properties for Q86XQ3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Ion transport domain | 50 - 270 | IPR005821 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| acrosomal vesicle | A structure in the head of a spermatozoon that contains acid hydrolases, and is concerned with the breakdown of the outer membrane of the ovum during fertilization. It lies just beneath the plasma membrane and is derived from the lysosome. |
| CatSper complex | A sperm-specific voltage-gated calcium channel that controls the intracellular calcium ion concentration and, thereby, the swimming behavior of sperm. Consists of a heteromeric tetramer surrounding a calcium ion- selective pore. May also contain additional auxiliary subunits. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| motile cilium | A cilium which may have a variable arrangement of axonemal microtubules and also contains molecular motors. It may beat with a whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface, such as on epithelial cells that line the lumenal ducts of various tissues; or they may display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization. Motile cilia can be found in single as well as multiple copies per cell. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| voltage-gated calcium channel activity | Enables the transmembrane transfer of a calcium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| establishment of localization in cell | Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. |
| flagellated sperm motility | The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm. |
| regulation of ion transmembrane transport | Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. |
| sodium ion transport | The directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| sperm capacitation | A process required for sperm to reach fertilization competence. Sperm undergo an incompletely understood series of morphological and molecular maturational processes, termed capacitation, involving, among other processes, protein tyrosine phosphorylation and increased intracellular calcium. |
16 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q6YLX9 | TPC1 | Two pore calcium channel protein 1 | Triticum aestivum (Wheat) | PR |
| P91645 | MED20 | Voltage-dependent calcium channel type A subunit alpha-1 | Drosophila melanogaster (Fruit fly) | PR |
| Q9UQD0 | SCN8A | Sodium channel protein type 8 subunit alpha | Homo sapiens (Human) | PR |
| Q96P56 | CATSPER2 | Cation channel sperm-associated protein 2 | Homo sapiens (Human) | PR |
| Q9Y5Y9 | SCN10A | Sodium channel protein type 10 subunit alpha | Homo sapiens (Human) | PR |
| Q14524 | SCN5A | Sodium channel protein type 5 subunit alpha | Homo sapiens (Human) | PR |
| A2ARP9 | Catsper2 | Cation channel sperm-associated protein 2 | Mus musculus (Mouse) | PR |
| Q9WTU3 | Scn8a | Sodium channel protein type 8 subunit alpha | Mus musculus (Mouse) | PR |
| Q6QIY3 | Scn10a | Sodium channel protein type 10 subunit alpha | Mus musculus (Mouse) | PR |
| Q62205 | Scn9a | Sodium channel protein type 9 subunit alpha | Mus musculus (Mouse) | PR |
| Q9JJV9 | Scn5a | Sodium channel protein type 5 subunit alpha | Mus musculus (Mouse) | PR |
| O88420 | Scn8a | Sodium channel protein type 8 subunit alpha | Rattus norvegicus (Rat) | PR |
| O88457 | Scn11a | Sodium channel protein type 11 subunit alpha | Rattus norvegicus (Rat) | PR |
| Q62968 | Scn10a | Sodium channel protein type 10 subunit alpha | Rattus norvegicus (Rat) | PR |
| Q5QM84 | TPC1 | Two pore calcium channel protein 1 | Oryza sativa subsp japonica (Rice) | PR |
| Q94KI8 | TPC1 | Two pore calcium channel protein 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSQHRHQRHS | RVISSSPVDT | TSVGFCPTFK | KFKRNDDECR | AFVKRVIMSR | FFKIIMISTV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TSNAFFMALW | TSYDIRYRLF | RLLEFSEIFF | VSICTSELSM | KVYVDPINYW | KNGYNLLDVI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IIIVMFLPYA | LRQLMGKQFT | YLYIADGMQS | LRILKLIGYS | QGIRTLITAV | GQTVYTVASV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LLLLFLLMYI | FAILGFCLFG | SPDNGDHDNW | GNLAAAFFTL | FSLATVDGWT | DLQKQLDNRE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FALSRAFTII | FILLASFIFL | NMFVGVMIMH | TEDSIRKFER | ELMLEQQEML | MGEKQVILQR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QQEEISRLMH | IQKNADCTSF | SELVENFKKT | LSHTDPMVLD | DFGTSLPFID | IYFSTLDYQD |
| 370 | 380 | 390 | |||
| TTVHKLQELY | YEIVHVLSLM | LEDLPQEKPQ | SLEKVDEK |