O95832
PR
Gene name |
CLDN1 (CLD1, SEMP1, UNQ481/PRO944) |
Protein name |
Claudin-1 |
Names |
Senescence-associated epithelial membrane protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9076 |
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 O95832
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O95832-F1 | Predicted | AlphaFoldDB |
199 variants for O95832
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs864309516 RCV000006461 |
66 | V>* | Neonatal ichthyosis-sclerosing cholangitis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs864309517 RCV000006462 |
120 | V>missing | Neonatal ichthyosis-sclerosing cholangitis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs145299880 CA2753494 RCV002532462 RCV000595533 |
188 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1294938011 CA355759103 |
2 | A>V | No |
ClinGen gnomAD |
|
|
rs759469733 CA2753651 |
4 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000730737 CA355759035 rs1339820363 |
5 | G>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs900346843 CA89745207 |
5 | G>W | No |
ClinGen TOPMed |
|
|
CA2753648 rs761705050 |
6 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA355759000 rs1402621591 |
7 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1402621591 CA355759003 |
7 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs776319428 CA2753647 |
7 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 11 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1401183197 CA355758906 |
11 | F>Y | No |
ClinGen TOPMed |
|
|
rs370118299 CA2753646 |
12 | I>V | No |
ClinGen ESP ExAC |
|
|
rs1421878516 CA355758867 |
13 | L>F | No |
ClinGen gnomAD |
|
|
rs1183985000 CA355758863 |
13 | L>P | No |
ClinGen gnomAD |
|
|
rs141961866 CA355758844 |
14 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141961866 CA2753644 RCV000316580 |
14 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA355758833 rs1186123349 |
15 | F>L | No |
ClinGen gnomAD |
|
|
rs1258193352 CA355758801 |
17 | G>* | No |
ClinGen gnomAD |
|
| TCGA novel | 18 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1197576007 CA355758760 |
20 | G>R | No |
ClinGen gnomAD |
|
|
CA2753640 rs756829297 |
21 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA89745064 rs1013392226 |
22 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA355758738 rs1013392226 |
22 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs895016415 CA89745041 |
23 | V>L | No |
ClinGen Ensembl |
|
|
CA355758683 rs1231695555 |
24 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 26 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA89745019 rs909170148 |
28 | P>T | No |
ClinGen TOPMed |
|
|
CA2753636 rs753263578 |
29 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA355758523 rs1173280012 |
30 | W>R | No |
ClinGen gnomAD |
|
|
rs1379167045 CA355758484 |
31 | R>M | No |
ClinGen gnomAD |
|
|
rs768137462 CA2753635 |
33 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2753634 rs759722267 |
34 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1406310131 CA355758382 |
35 | Y>* | No |
ClinGen gnomAD |
|
|
rs766438527 CA2753632 |
35 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751558313 CA2753633 |
35 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1161949611 CA355758347 |
37 | G>S | No |
ClinGen gnomAD |
|
|
rs1238202388 CA355758328 |
38 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA355758320 rs1238202388 |
38 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA2753627 rs775463471 |
40 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA2753628 rs760457269 |
40 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355758232 rs1221921292 |
41 | V>L | No |
ClinGen gnomAD |
|
|
CA89744914 rs1038078193 |
42 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 42 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355758174 rs1354348849 |
45 | A>T | No |
ClinGen gnomAD |
|
|
CA2753625 rs201319396 |
46 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773766654 CA2753624 |
47 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs750616788 CA89744902 |
47 | Y>F | No |
ClinGen Ensembl |
|
|
CA355758102 rs1470524094 |
48 | E>D | No |
ClinGen TOPMed |
|
|
rs1560077292 CA355758119 |
48 | E>K | No |
ClinGen Ensembl |
|
|
CA89744891 rs868062023 |
49 | G>R | No |
ClinGen Ensembl |
|
|
CA355758084 rs1374844180 |
49 | G>V | No |
ClinGen gnomAD |
|
|
CA355758077 rs1463009161 |
51 | W>R | No |
ClinGen TOPMed |
|
|
CA355758049 rs1349625227 |
53 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1421996539 CA355758028 |
54 | C>* | No |
ClinGen gnomAD |
|
|
rs777504205 CA2753621 |
54 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1381480263 CA355758023 |
55 | V>L | No |
ClinGen gnomAD |
|
|
CA355758025 rs1381480263 |
55 | V>M | No |
ClinGen gnomAD |
|
|
CA355757983 rs1393518010 |
58 | S>G | No |
ClinGen TOPMed |
|
|
rs1437260448 CA355757953 |
60 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1426719430 CA355757938 |
61 | Q>R | No |
ClinGen gnomAD |
|
|
RCV000579255 rs752054405 CA355757888 |
64 | C>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA2753617 rs755467541 |
64 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA2753618 rs755467541 |
64 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA2753615 rs145197251 |
65 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1488536344 | 65 | K>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760510805 CA355757818 |
69 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2753612 rs765432112 |
69 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA2753611 rs760510805 |
69 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2753610 rs775235900 |
70 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA355757806 rs1243647549 |
71 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA2753609 rs767303369 |
74 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs758464337 CA2753595 |
76 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765483831 RCV000735165 CA2753593 |
80 | T>A | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA355756739 rs1356985128 |
81 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
RCV000597209 CA2753592 rs200968478 |
81 | R>H | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1043720382 CA89737295 |
82 | A>T | No |
ClinGen Ensembl |
|
|
rs1422597025 CA355756720 |
84 | M>K | No |
ClinGen gnomAD |
|
|
CA355756723 rs1465848078 |
84 | M>V | No |
ClinGen gnomAD |
|
|
CA2753591 rs754012333 |
85 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA355756684 rs1181269828 |
87 | G>D | No |
ClinGen gnomAD |
|
|
CA89737255 rs914124356 |
88 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs759311756 CA2753589 |
89 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs200730047 CA89737207 |
92 | V>G | No |
ClinGen TOPMed |
|
|
CA2753587 rs766330594 |
93 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA355756616 rs1553800679 |
93 | I>T | No |
ClinGen Ensembl |
|
|
CA89737178 rs531006128 |
94 | A>T | No |
ClinGen 1000Genomes |
|
|
CA355756590 rs1225699055 |
95 | I>M | No |
ClinGen gnomAD |
|
|
rs376629134 CA2753586 |
96 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1356057476 CA355756567 |
97 | V>A | No |
ClinGen TOPMed |
|
|
CA2753585 rs772875922 |
97 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 98 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200926144 CA2753581 |
100 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355756536 rs373107390 |
100 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2753582 COSM1201298 RCV000729877 rs373107390 |
100 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA355756528 rs1399101004 |
101 | G>S | No |
ClinGen gnomAD |
|
|
CA355756514 rs1168177985 |
102 | M>V | No |
ClinGen gnomAD |
|
|
rs747383731 CA2753580 |
104 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747383731 CA355756497 |
104 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs969086435 CA89737107 |
104 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA355756486 rs1422017334 |
105 | M>I | No |
ClinGen gnomAD |
|
|
CA355756487 rs1163948172 |
105 | M>R | No |
ClinGen gnomAD |
|
|
CA355756475 rs1383407962 |
107 | C>S | No |
ClinGen gnomAD |
|
|
rs1180601024 CA355756471 |
107 | C>S | No |
ClinGen gnomAD |
|
|
CA2753578 rs772600198 COSM1693961 |
111 | D>N | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs746334998 CA2753577 |
112 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1205609041 CA355756421 |
113 | V>M | No |
ClinGen TOPMed |
|
|
rs1251581237 CA355756396 |
114 | Q>H | No |
ClinGen TOPMed |
|
|
rs778987673 CA355756371 |
116 | M>R | No |
ClinGen ExAC |
|
|
rs778987673 CA2753576 |
116 | M>T | No |
ClinGen ExAC |
|
|
rs762384474 CA89737006 |
117 | R>K | No |
ClinGen TOPMed |
|
|
rs762384474 CA89736993 |
117 | R>T | No |
ClinGen TOPMed |
|
|
rs757271518 CA2753575 |
119 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs757271518 CA355756336 |
119 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1357944333 CA355756332 |
119 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2753574 rs376395367 |
121 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1560074648 RCV000733595 CA913190106 |
122 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1340455726 CA355756298 |
122 | G>V | No |
ClinGen gnomAD |
|
|
RCV000244049 COSM1537463 RCV000892338 CA2753570 rs140846629 |
124 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1291679 rs373516096 CA2753569 |
124 | A>V | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA355756236 rs1553800649 RCV000594883 |
127 | L>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs184529311 CA2753567 RCV000730129 |
128 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1221356478 CA355755767 |
130 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1221356478 CA355755768 |
130 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA355755758 rs1263008238 |
132 | A>S | No |
ClinGen TOPMed |
|
|
CA355755755 rs1322075018 |
132 | A>V | No |
ClinGen TOPMed |
|
|
rs1342106104 CA355755750 |
133 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 133 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773376637 CA2753540 |
135 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 136 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355755712 rs1376097484 |
139 | W>* | No |
ClinGen Ensembl |
|
|
rs891202999 CA89734585 |
139 | W>R | No |
ClinGen Ensembl |
|
|
rs1261694655 CA355755705 |
140 | Y>C | No |
ClinGen TOPMed |
|
|
CA89734578 rs906328206 |
142 | N>S | No |
ClinGen TOPMed |
|
|
rs748402994 CA2753538 |
144 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs748402994 CA89734571 |
144 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs150983709 CA2753536 |
145 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745633918 CA2753535 |
146 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs745633918 CA355755657 |
146 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 148 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 149 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA89734549 rs181213282 |
151 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 151 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757249673 CA2753533 |
153 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757249673 CA2753534 |
153 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753668517 CA2753532 |
154 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA904228246 rs1427031717 |
154 | P>L | No |
ClinGen TOPMed |
|
|
CA2753531 rs763674205 |
155 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355755490 rs1473539396 |
155 | V>L | No |
ClinGen TOPMed |
|
|
rs1442473919 CA355755446 |
157 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2753530 rs755513283 |
157 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA2753509 rs754660555 |
159 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA2753508 rs537860492 |
160 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1379279429 CA355754830 |
160 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2753506 rs763219767 |
162 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA2753507 rs766730136 |
162 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA355754795 rs763219767 |
162 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1325969312 CA355754781 |
164 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs200639282 RCV000728540 CA2753503 |
165 | L>V | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA355754757 rs1560073130 RCV000732139 |
167 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2753502 rs549087557 |
170 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2753501 rs529377941 |
171 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760990597 CA2753500 |
172 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1030126830 CA89733602 |
174 | L>V | No |
ClinGen gnomAD |
|
|
CA2753498 rs775788100 |
177 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs997178163 CA89733584 |
178 | G>V | No |
ClinGen Ensembl |
|
|
rs1216093310 CA355754610 |
179 | G>C | No |
ClinGen gnomAD |
|
|
CA2753497 rs770826803 |
180 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1289483522 CA355754572 |
182 | L>F | No |
ClinGen gnomAD |
|
|
rs1218766578 CA355754514 |
185 | S>F | No |
ClinGen gnomAD |
|
|
CA2753496 rs749025339 |
186 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777818543 CA2753495 |
188 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2753493 rs199998460 |
189 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 190 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2753492 rs538398672 |
191 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1577386679 CA355754431 |
191 | T>P | No |
ClinGen Ensembl |
|
|
rs1345331578 CA355754421 |
192 | S>P | No |
ClinGen gnomAD |
|
|
rs779557390 CA2753489 |
194 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2753488 rs758843692 |
195 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750720009 CA2753487 |
196 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1398523231 CA355754316 |
197 | R>T | No |
ClinGen gnomAD |
|
|
rs1436098970 CA355754299 |
198 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA355754278 rs1426821802 |
199 | Y>N | No |
ClinGen gnomAD |
|
|
rs765594745 CA2753486 |
200 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA355754207 rs1479973517 |
203 | A>V | No |
ClinGen gnomAD |
|
|
rs755758248 CA89733480 |
204 | P>A | No |
ClinGen gnomAD |
|
|
rs936564527 CA89733476 |
204 | P>L | No |
ClinGen Ensembl |
|
|
rs755758248 CA89733482 |
204 | P>T | No |
ClinGen gnomAD |
|
|
rs1560073026 CA355754189 |
205 | S>F | No |
ClinGen Ensembl |
|
|
CA2753485 CA2753484 rs764274552 |
206 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141397566 CA2753482 |
207 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2753480 rs772164842 |
208 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs762849414 CA2753479 |
208 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1220074868 CA355754147 |
209 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 209 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2753475 rs781098484 |
211 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA2753476 COSM1042516 rs147881276 RCV000597724 |
211 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1401875571 CA355754107 |
212 | V>R | No |
ClinGen gnomAD |
1 associated diseases with O95832
[MIM: 607626]: Ichthyosis-sclerosing cholangitis neonatal syndrome (NISCH)
A rare autosomal recessive complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, mild diffuse ichthyosis, sclerosing cholangitis and leukocyte vacuolization. {ECO:0000269|PubMed:15521008, ECO:0000269|PubMed:16619213}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A rare autosomal recessive complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, mild diffuse ichthyosis, sclerosing cholangitis and leukocyte vacuolization. {ECO:0000269|PubMed:15521008, ECO:0000269|PubMed:16619213}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for O95832
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Claudin, conserved site | 49 - 64 | IPR017974 |
Functions
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| bicellular tight junction | An occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet; the outer leaflets of the two interacting plasma membranes are seen to be tightly apposed where sealing strands are present. Each sealing strand is composed of a long row of transmembrane adhesion proteins embedded in each of the two interacting plasma membranes. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
| lateral plasma membrane | The portion of the plasma membrane at the lateral side of the cell. In epithelial cells, lateral plasma membranes are on the sides of cells which lie at the interface of adjacent cells. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| tight junction | A cell-cell junction that seals cells together in an epithelium in a way that prevents even small molecules from leaking from one side of the sheet to the other. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
| structural molecule activity | The action of a molecule that contributes to the structural integrity of a complex or its assembly within or outside a cell. |
| virus receptor activity | Combining with a virus component and mediating entry of the virus into the cell. |
28 GO annotations of biological process
| Name | Definition |
|---|---|
| aging | A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700). |
| bicellular tight junction assembly | The aggregation, arrangement and bonding together of a set of components to form a tight junction, an occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet. |
| calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules | The attachment of one cell to another cell via adhesion molecules that do not require the presence of calcium for the interaction. |
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| cell junction maintenance | The organization process that preserves a cell junction in a stable functional or structural state. A cell junction is a specialized region of connection between two cells or between a cell and the extracellular matrix. |
| cell-cell junction organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cell-cell junction. A cell-cell junction is a specialized region of connection between two cells. |
| cellular response to butyrate | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a butyrate stimulus. |
| cellular response to interferon-gamma | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interferon-gamma stimulus. Interferon gamma is the only member of the type II interferon found so far. |
| cellular response to lead ion | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lead ion stimulus. |
| cellular response to transforming growth factor beta stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a transforming growth factor beta stimulus. |
| cellular response to tumor necrosis factor | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tumor necrosis factor stimulus. |
| establishment of blood-nerve barrier | The establishment of the barrier between the perineurium of peripheral nerves and the vascular endothelium of endoneurial capillaries. The perineurium acts as a diffusion barrier, but ion permeability at the blood-nerve barrier is still higher than at the blood-brain barrier. |
| establishment of endothelial intestinal barrier | The establishment of a barrier between endothelial cell layers of the intestine to exert specific and selective control over the passage of water and solutes, thus allowing formation and maintenance of compartments that differ in fluid and solute composition. |
| establishment of skin barrier | Establishment of the epithelial barrier, the functional barrier in the skin that limits its permeability. |
| hyperosmotic salinity response | 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 detection of, or exposure to, an increase in the concentration of salt (particularly but not exclusively sodium and chloride ions) in the environment. |
| liver regeneration | The regrowth of lost or destroyed liver. |
| maintenance of blood-brain barrier | Maintaining the structure and function of the blood-brain barrier, thus ensuring specific regulated transport of substances (e.g. macromolecules, small molecules, ions) into the brain, and out of the brain into the blood circulation. |
| positive regulation of bicellular tight junction assembly | Any process that activates or increases the frequency, rate or extent of tight junction assembly. |
| positive regulation of cell migration | Any process that activates or increases the frequency, rate or extent of cell migration. |
| positive regulation of epithelial cell proliferation involved in wound healing | Any process that activates or increases the rate or extent of epithelial cell proliferation, contributing to the restoration of integrity to a damaged tissue following an injury. |
| positive regulation of wound healing | Any process that increases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury. |
| protein complex oligomerization | The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of component monomers; protein oligomers may be composed of different or identical monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. |
| response to dexamethasone | 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 dexamethasone stimulus. |
| response to ethanol | 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 an ethanol stimulus. |
| response to interleukin-18 | 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 an interleukin-18 stimulus. |
| response to lipopolysaccharide | Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. |
| response to toxic substance | 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 toxic stimulus. |
| xenobiotic transport across blood-nerve barrier | The directed movement of a xenobiotic through the blood-nerve barrier. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9Y5I7 | CLDN16 | Claudin-16 | Homo sapiens (Human) | PR |
| P56856 | CLDN18 | Claudin-18 | Homo sapiens (Human) | PR |
| O95484 | CLDN9 | Claudin-9 | Homo sapiens (Human) | PR |
| O88551 | Cldn1 | Claudin-1 | Mus musculus (Mouse) | PR |
| Q9NGJ7 | clc-5 | Clc-like protein 5 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MANAGLQLLG | FILAFLGWIG | AIVSTALPQW | RIYSYAGDNI | VTAQAMYEGL | WMSCVSQSTG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QIQCKVFDSL | LNLSSTLQAT | RALMVVGILL | GVIAIFVATV | GMKCMKCLED | DEVQKMRMAV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IGGAIFLLAG | LAILVATAWY | GNRIVQEFYD | PMTPVNARYE | FGQALFTGWA | AASLCLLGGA |
| 190 | 200 | 210 | |||
| LLCCSCPRKT | TSYPTPRPYP | KPAPSSGKDY | V |