O43291
EV
Gene name |
SPINT2 (HAI2, KOP) |
Protein name |
Kunitz-type protease inhibitor 2 |
Names |
Hepatocyte growth factor activator inhibitor type 2, HAI-2, Placental bikunin |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10653 |
EC number |
|
Protein Class |
KUNITZ-TYPE PROTEASE INHIBITOR 2 (PTHR47247) |
Descriptions
Kunitz-type protease inhibitor 2 (or hepatocyte growth factor activator inhibitor type 2 (HAI-2)) is an integral membrane Kunitz-type serine protease inhibitor that regulates the proteolysis of matriptase and prostasin in a cell-type selective manner. The vast majority of non-glycosylated HAI-2 is synthesized into multiple disulfide-linked oligomers, which lack protease inhibitory function, likely due to distorted conformations caused by the disarrayed disulfide linkages. N-glycosylation on Asn-57 is required for folding into a functional HAI-2 with full protease suppressive activity and correct subcellular targeting signal.
Autoinhibitory domains (AIDs)
Target domain |
35-89 (Pancreatic trypsin inhibitor Kunitz domain) |
Relief mechanism |
PTM |
Assay |
Mutagenesis experiment |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for O43291
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4U32 | X-ray | 165 A | X | 34-88 | PDB |
| AF-O43291-F1 | Predicted | AlphaFoldDB |
189 variants for O43291
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs121908404 RCV002468921 |
1 | M>L | Congenital secretory sodium diarrhea 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA405633638 RCV002468944 rs780880496 |
149 | W>* | Congenital secretory sodium diarrhea 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_058718 CA117329 rs121908403 RCV002468918 RCV001851669 |
163 | Y>C | Congenital secretory sodium diarrhea 3 DIAR3; has a significantly reduced ability to inhibit trypsin compared to wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs606231284 CA171019 RCV002468935 |
168 | G>S | Congenital secretory sodium diarrhea 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001329840 CA9411501 rs781030322 RCV001871803 |
185 | R>C | Variant assessed as Somatic; 0.0 impact. Congenital secretory sodium diarrhea 3 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1389557633 CA405626601 |
2 | A>P | No |
ClinGen gnomAD |
|
|
CA405626605 rs1462711019 |
2 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA308066656 rs3186754 |
3 | Q>H | No |
ClinGen gnomAD |
|
|
CA308066651 rs1053265397 |
3 | Q>R | No |
ClinGen TOPMed |
|
|
rs1351724924 CA405626613 |
4 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 6 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs951837908 CA308066657 |
9 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs983137727 CA308066658 |
10 | S>N | No |
ClinGen Ensembl |
|
|
rs1386633374 CA405626675 |
14 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA405626674 rs1386633374 |
14 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA308066667 rs538334575 |
15 | A>P | No |
ClinGen Ensembl |
|
|
rs1373846956 CA405626686 |
16 | L>Q | No |
ClinGen gnomAD |
|
|
CA9411306 rs372313605 |
19 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1306363755 CA405626714 |
21 | L>H | No |
ClinGen gnomAD |
|
|
rs1238284917 CA405626728 |
23 | S>F | No |
ClinGen TOPMed |
|
|
CA405626730 rs1227489904 |
24 | G>R | No |
ClinGen gnomAD |
|
|
CA405626749 rs1284706040 |
27 | A>E | No |
ClinGen TOPMed |
|
|
CA405626755 rs981159575 |
28 | A>D | No |
ClinGen gnomAD |
|
|
rs981159575 CA308066708 |
28 | A>G | No |
ClinGen gnomAD |
|
|
rs889674643 CA308066709 |
29 | D>E | No |
ClinGen TOPMed |
|
|
CA405626758 rs1600327854 |
29 | D>H | No |
ClinGen Ensembl |
|
|
CA405626768 rs1247322263 |
30 | R>L | No |
ClinGen gnomAD |
|
| TCGA novel | 32 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1429242348 CA405626789 |
33 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA405626797 rs1172622725 |
34 | I>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 35 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405626807 rs1367001126 |
36 | D>Y | No |
ClinGen gnomAD |
|
|
CA405628605 rs1438539529 |
37 | F>L | No |
ClinGen TOPMed |
|
|
CA9411324 rs370877740 |
41 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA308079381 rs35896127 |
42 | K>N | No |
ClinGen Ensembl |
|
|
CA405628781 rs1489769447 |
44 | V>A | No |
ClinGen TOPMed |
|
|
CA9411326 rs746707446 |
44 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA405628847 CA9411329 rs749694267 |
46 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9411328 rs776367740 |
46 | R>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA308079397 rs1804770 |
47 | C>F | No |
ClinGen Ensembl |
|
|
rs1409082421 CA405628894 |
48 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs11548458 CA9411331 COSM3692713 |
48 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA308079405 rs202094610 |
51 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1377532439 CA405628969 |
51 | M>T | No |
ClinGen gnomAD |
|
|
CA9411332 rs202094610 |
51 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1433635330 CA405629009 |
52 | P>L | No |
ClinGen gnomAD |
|
|
rs1312948326 CA405629018 |
53 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs910487777 CA308079411 |
54 | W>* | No |
ClinGen Ensembl |
|
|
rs767551161 CA405629133 |
56 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773333522 CA9411334 |
57 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA9411335 rs143771318 |
57 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA405629220 rs1299155060 |
58 | V>F | No |
ClinGen gnomAD |
|
|
CA9411339 rs764998709 |
61 | G>E | No |
ClinGen ExAC |
|
|
rs752638824 CA9411340 |
63 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs758352175 CA9411341 |
64 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1156429064 CA405629628 |
68 | Y>N | No |
ClinGen TOPMed |
|
|
rs777505593 CA9411342 |
69 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1418767584 CA405629736 |
71 | C>Y | No |
ClinGen TOPMed |
|
|
rs781021131 CA9411345 |
73 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA308079450 rs929080481 |
74 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 75 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9411348 rs769191493 |
79 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191184688 CA405630118 |
83 | E>* | No |
ClinGen TOPMed |
|
|
rs1396323656 CA405630288 |
88 | C>R | No |
ClinGen gnomAD |
|
|
rs200143906 CA9411350 |
89 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 93 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405631521 rs1206900159 |
94 | N>S | No |
ClinGen gnomAD |
|
|
rs374390539 CA9411411 |
96 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753389034 CA405631588 |
98 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs753389034 CA9411413 |
98 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs758849625 CA9411414 |
100 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405631634 rs758849625 |
100 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747585862 CA9411416 |
102 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA308080834 rs367927707 |
106 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs1399976881 CA405631771 |
108 | S>Y | No |
ClinGen gnomAD |
|
|
rs1319107030 CA405631790 |
110 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1319107030 CA405631791 |
110 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs141683432 CA9411419 |
111 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA405631827 rs1239731992 |
112 | S>N | No |
ClinGen gnomAD |
|
|
rs769628437 CA308080840 |
112 | S>R | No |
ClinGen Ensembl |
|
|
rs1212522091 CA405632522 |
115 | R>G | No |
ClinGen gnomAD |
|
|
CA9411442 rs779983243 |
115 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1437058376 CA405632551 |
116 | R>G | No |
ClinGen gnomAD |
|
|
CA405632615 rs1182254805 |
119 | S>C | No |
ClinGen gnomAD |
|
|
rs1283055153 CA405632642 |
120 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 122 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1435815728 CA405632742 |
123 | S>F | No |
ClinGen TOPMed |
|
|
rs768765614 CA9411444 |
125 | D>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1525468 CA9411443 rs749590138 |
125 | D>N | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9411446 rs747975275 |
126 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs567336942 CA9411445 |
126 | M>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs567336942 CA308081380 |
126 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9411447 rs771949526 |
128 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1166418832 CA405632925 |
128 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 130 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9411470 rs764698819 |
133 | C>G | No |
ClinGen ExAC |
|
|
CA9411472 rs373217031 |
134 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373217031 CA405633277 |
134 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1429365071 CA405633298 |
135 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1195665162 CA405633348 |
136 | N>D | No |
ClinGen gnomAD |
|
|
rs368856630 CA405633353 |
136 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA308082063 rs911317656 |
136 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9411476 rs761038456 |
137 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs761038456 CA9411475 |
137 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1054132628 CA308082118 |
139 | T>I | No |
ClinGen TOPMed |
|
|
CA308082107 rs758579986 |
139 | T>P | No |
ClinGen Ensembl |
|
|
rs1224874674 CA405633438 |
141 | P>A | No |
ClinGen gnomAD |
|
|
rs755052415 CA9411478 |
143 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs150103321 CA308082128 |
143 | R>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs150103321 CA308082133 |
143 | R>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs150103321 CA405633485 |
143 | R>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs200998013 CA9411480 |
146 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA308082147 rs11548459 |
147 | P>L | No |
ClinGen Ensembl |
|
|
rs1279737892 CA405633599 |
148 | R>C | No |
ClinGen gnomAD |
|
|
rs1353175955 CA405633604 COSM1393337 |
148 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs780880496 CA308082151 |
149 | W>C | No |
ClinGen gnomAD |
|
|
rs373558499 CA9411482 |
152 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM995912 rs746801741 CA9411483 |
153 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9411484 rs770724269 |
156 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1260052409 CA405633824 |
156 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9411485 rs781035774 |
157 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs745798920 CA9411486 |
159 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs200374203 CA9411487 |
159 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774974338 CA9411488 |
161 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA405633944 rs1417873691 |
162 | I>V | No |
ClinGen gnomAD |
|
|
rs762379405 CA9411489 |
163 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs760976892 CA9411491 |
167 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9411490 rs774002829 |
167 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405634051 rs1417921550 |
168 | G>D | No |
ClinGen TOPMed |
|
|
rs1166514906 CA405634069 |
169 | N>S | No |
ClinGen TOPMed |
|
|
rs201264028 CA9411492 |
170 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9411493 rs754350392 |
174 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs138690206 COSM995913 CA9411494 |
174 | R>H | endometrium Variant assessed as Somatic; 4.633e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs765774473 CA9411495 |
175 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA9411497 rs566177111 |
178 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1242427644 CA405634210 |
180 | M>V | No |
ClinGen gnomAD |
|
|
CA9411498 rs768138591 |
182 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142695577 CA9411499 |
182 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199548007 CA308082390 |
187 | Q>E | No |
ClinGen Ensembl |
|
|
rs1323850989 CA405634329 |
187 | Q>P | No |
ClinGen gnomAD |
|
|
rs1295670978 CA405634357 |
189 | N>T | No |
ClinGen TOPMed |
|
|
CA9411525 rs754531694 |
190 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1276631007 CA405634374 |
191 | P>S | No |
ClinGen gnomAD |
|
|
rs1568344647 CA405634385 |
192 | L>V | No |
ClinGen Ensembl |
|
|
rs778471714 CA9411526 |
193 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1232997970 CA405634427 |
196 | S>L | No |
ClinGen gnomAD |
|
|
rs765790630 CA308083339 |
199 | V>L | No |
ClinGen Ensembl |
|
|
rs1600354263 CA405634863 |
200 | V>G | No |
ClinGen Ensembl |
|
|
CA9411571 rs11548457 VAR_012482 |
200 | V>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9411572 rs551764131 |
202 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772251531 CA9411574 |
204 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9411576 rs372451580 CA9411575 |
205 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776795833 CA9411578 |
206 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9411579 rs776795833 |
206 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9411580 rs764919245 |
207 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA405634979 rs1600354299 |
208 | V>G | No |
ClinGen Ensembl |
|
|
CA9411581 rs752741512 |
212 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1234904752 CA405635098 |
215 | A>V | No |
ClinGen gnomAD |
|
|
CA308083411 rs144062571 |
222 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9411587 rs148652374 |
222 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144062571 CA9411586 |
222 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9411588 rs755415577 |
223 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9411590 rs748756468 |
224 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778192968 CA9411592 |
225 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9411591 rs576047179 |
225 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs747125228 CA9411593 |
227 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA9411594 rs770968777 |
229 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1416344679 CA405635348 |
230 | R>C | No |
ClinGen gnomAD |
|
|
CA9411595 rs544029586 |
230 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs142877026 CA9411598 |
233 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs115746965 CA9411599 |
233 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA405635392 rs142877026 |
233 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200600070 CA9411602 |
235 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201772402 CA308083541 |
238 | S>T | No |
ClinGen 1000Genomes |
|
|
rs1299747126 CA405635531 |
239 | G>A | No |
ClinGen TOPMed |
|
|
rs143567268 CA9411604 |
239 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9411605 rs201655952 |
241 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9411606 rs765987950 |
242 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199831478 CA9411607 |
243 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 244 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778294793 CA9411609 |
245 | L>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 246 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405635703 rs1426551548 |
247 | K>E | No |
ClinGen TOPMed |
|
|
rs747492050 CA9411610 |
247 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA405635738 rs1480388972 |
248 | N>S | No |
ClinGen TOPMed |
|
|
rs1371797758 CA405635758 |
249 | T>I | No |
ClinGen gnomAD |
|
|
CA405635774 rs1398375390 |
250 | Y>C | No |
ClinGen gnomAD |
|
|
CA405635763 rs1166163587 |
250 | Y>N | No |
ClinGen gnomAD |
|
|
CA405635796 rs1370702137 |
251 | V>I | No |
ClinGen gnomAD |
1 associated diseases with O43291
[MIM: 270420]: Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies (DIAR3)
A disease characterized by life-threatening secretory diarrhea, severe metabolic acidosis and hyponatremia. Hyponatremia is secondary to extraordinarily high fecal sodium loss, with low or normal excretion of urinary sodium, in the absence of infectious, autoimmune and endocrine causes. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disease characterized by life-threatening secretory diarrhea, severe metabolic acidosis and hyponatremia. Hyponatremia is secondary to extraordinarily high fecal sodium loss, with low or normal excretion of urinary sodium, in the absence of infectious, autoimmune and endocrine causes. . Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for O43291
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for O43291 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR47247 | KUNITZ-TYPE PROTEASE INHIBITOR 2 |
| PANTHER Subfamily | PTHR47247:SF1 | KUNITZ-TYPE PROTEASE INHIBITOR 2 |
| PANTHER Protein Class |
protease inhibitor
protein-binding activity modulator |
|
| PANTHER Pathway Category | No pathway information available | |
4 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 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| endopeptidase inhibitor activity | Binds to and stops, prevents or reduces the activity of an endopeptidase. |
| serine-type endopeptidase inhibitor activity | Binds to and stops, prevents or reduces the activity of a serine-type endopeptidase. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| basement membrane organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the basement membrane. |
| cellular response to BMP 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 bone morphogenetic protein (BMP) stimulus. |
| epithelial cell morphogenesis involved in placental branching | The change in form (cell shape and size) that occurs when a trophoblast cell elongates to contribute to the branching of the placenta. |
| establishment or maintenance of cell polarity | Any cellular process that results in the specification, formation or maintenance of anisotropic intracellular organization or cell growth patterns. |
| negative regulation of cell motility | Any process that stops, prevents, or reduces the frequency, rate or extent of cell motility. |
| negative regulation of cell-cell adhesion | Any process that stops, prevents or reduces the rate or extent of cell adhesion to another cell. |
| negative regulation of neural precursor cell proliferation | Any process that stops, prevents, or reduces the frequency, rate or extent of neural precursor cell proliferation. |
| negative regulation of peptidase activity | Any process that stops or reduces the rate of peptidase activity, the hydrolysis of peptide bonds within proteins. |
| neural tube closure | The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline. |
13 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q7YRQ8 | TFPI2 | Tissue factor pathway inhibitor 2 | Bos taurus (Bovine) | SS |
| Q868Z9 | Ppn | Papilin | Drosophila melanogaster (Fruit fly) | SS |
| M9PE65 | axo | Axotactin | Drosophila melanogaster (Fruit fly) | SS |
| P49223 | SPINT3 | Kunitz-type protease inhibitor 3 | Homo sapiens (Human) | SS |
| P48307 | TFPI2 | Tissue factor pathway inhibitor 2 | Homo sapiens (Human) | SS |
| P10646 | TFPI | Tissue factor pathway inhibitor | Homo sapiens (Human) | SS |
| O43278 | SPINT1 | Kunitz-type protease inhibitor 1 | Homo sapiens (Human) | EV |
| Q9R097 | Spint1 | Kunitz-type protease inhibitor 1 | Mus musculus (Mouse) | SS |
| O35536 | Tfpi2 | Tissue factor pathway inhibitor 2 | Mus musculus (Mouse) | SS |
| O54819 | Tfpi | Tissue factor pathway inhibitor | Mus musculus (Mouse) | SS |
| Q9WU03 | Spint2 | Kunitz-type protease inhibitor 2 | Mus musculus (Mouse) | SS |
| Q02445 | Tfpi | Tissue factor pathway inhibitor | Rattus norvegicus (Rat) | SS |
| Q28864 | TFPI | Tissue factor pathway inhibitor | Macaca mulatta (Rhesus macaque) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAQLCGLRRS | RAFLALLGSL | LLSGVLAADR | ERSIHDFCLV | SKVVGRCRAS | MPRWWYNVTD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GSCQLFVYGG | CDGNSNNYLT | KEECLKKCAT | VTENATGDLA | TSRNAADSSV | PSAPRRQDSE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DHSSDMFNYE | EYCTANAVTG | PCRASFPRWY | FDVERNSCNN | FIYGGCRGNK | NSYRSEEACM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LRCFRQQENP | PLPLGSKVVV | LAGLFVMVLI | LFLGASMVYL | IRVARRNQER | ALRTVWSSGD |
| 250 | |||||
| DKEQLVKNTY | VL |