O43462
PR
Gene name |
MBTPS2 |
Protein name |
Membrane-bound transcription factor site-2 protease |
Names |
Endopeptidase S2P, Sterol regulatory element-binding proteins intramembrane protease, SREBPs intramembrane protease |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51360 |
EC number |
3.4.24.85: Metalloendopeptidases |
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 O43462
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O43462-F1 | Predicted | AlphaFoldDB |
234 variants for O43462
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA412561443 rs777980245 RCV001197532 RCV002560236 |
40 | N>T | Inborn genetic diseases IFAP syndrome with or without BRESHECK syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10367294 RCV001330691 rs375900835 |
42 | G>R | Olmsted syndrome, X-linked Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
TCGA novel RCV001280809 rs2092904689 |
59 | R>C | Variant assessed as Somatic; impact. Osteogenesis imperfecta, type 19 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
CA10367307 RCV002540837 rs149889191 RCV000912080 |
73 | Y>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000012156 CA121440 rs122468177 VAR_063054 |
87 | M>I | IFAP syndrome with or without BRESHECK syndrome IFAP1; does not affect subcellular localization; impairs activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs199974151 CA10367325 RCV002060690 RCV000624223 |
97 | T>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001330692 rs2092914741 |
172 | E>D | IFAP syndrome with or without BRESHECK syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs766760741 RCV000626122 CA10367375 |
177 | I>L | IFAP syndrome with or without BRESHECK syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_063055 RCV000012159 rs122468180 CA121443 |
226 | W>L | IFAP syndrome with or without BRESHECK syndrome IFAP1; does not affect subcellular localization; impairs activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000012155 CA121439 rs122468176 VAR_063056 |
227 | H>L | IFAP syndrome with or without BRESHECK syndrome IFAP1; does not affect subcellular localization; impairs activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA121441 RCV000012157 rs122468178 RCV000081781 VAR_063057 |
429 | R>H | IFAP syndrome with or without BRESHECK syndrome IFAP1; does not affect subcellular localization; impairs activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000675188 rs1555986267 CA412570287 VAR_081103 |
459 | N>S | Osteogenesis imperfecta, type 19 OI19; decreased regulated intramembrane proteolysis resulting in reduced transcriptional activation of genes relevant to osteoblast differentiation and bone formation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA151268 VAR_071323 rs587777306 RCV000114759 |
464 | F>S | Olmsted syndrome, X-linked OLMSX [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000012158 rs122468179 VAR_063058 CA121442 |
475 | F>S | IFAP syndrome with or without BRESHECK syndrome IFAP1; does not affect subcellular localization; impairs activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1555986287 CA412570760 VAR_081104 RCV000675189 |
505 | L>F | Osteogenesis imperfecta, type 19 OI19; decreased regulated intramembrane proteolysis resulting in reduced transcriptional activation of genes relevant to osteoblast differentiation and bone formation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001859193 RCV001197570 CA412570780 rs1486619088 COSM3844335 |
507 | A>V | Variant assessed as Somatic; 0.0 impact. breast IFAP syndrome with or without BRESHECK syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
CA128790 VAR_064409 RCV000254794 RCV000022848 rs587776867 |
508 | N>S | Keratosis follicularis spinulosa decalvans, X-linked KFSDX; sterol responsiveness is reduced by half [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA10367272 COSM3390561 COSM3390562 rs748678625 |
7 | V>L | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs146881503 CA327501871 |
8 | V>G | No |
ClinGen Ensembl |
|
|
RCV000081784 rs398124305 |
8 | V>missing | No |
ClinVar dbSNP |
|
|
rs149174700 CA327501872 |
9 | V>G | No |
ClinGen Ensembl |
|
|
CA327501874 rs141135104 |
10 | V>G | No |
ClinGen Ensembl |
|
|
CA327501875 rs143812963 |
11 | V>G | No |
ClinGen Ensembl |
|
|
CA327501876 rs867476543 |
12 | G>C | No |
ClinGen Ensembl |
|
|
CA412561246 rs1416858489 |
13 | G>S | No |
ClinGen gnomAD |
|
|
rs376119693 CA327501878 |
17 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 18 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10367275 rs748863854 |
18 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 21 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1049427168 CA327501879 |
22 | L>F | No |
ClinGen Ensembl |
|
|
rs1287649948 CA412561310 |
23 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 26 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10367288 rs780206696 |
28 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10367289 rs753216720 |
31 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416950244 CA412561385 |
32 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 33 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1441779853 CA412561429 |
38 | L>V | No |
ClinGen TOPMed |
|
|
rs756727377 CA10367290 |
39 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA10367292 rs749722128 |
40 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs777980245 CA10367291 |
40 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 42 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745538305 CA10367295 |
44 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs370555286 CA10367297 |
50 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10367296 rs370555286 |
50 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 52 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 53 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 55 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201883046 CA10367300 |
56 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761602380 CA10367301 |
59 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA412561597 rs1242721163 |
63 | S>C | No |
ClinGen TOPMed |
|
|
rs5951639 CA327502118 |
66 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs5951639 CA10367303 |
66 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs764955640 COSM75375 CA10367302 |
66 | R>W | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA327502120 rs938412288 |
67 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA412561621 rs1313914035 |
67 | R>W | No |
ClinGen gnomAD |
|
|
rs755268373 CA10367304 |
69 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10367305 rs767675041 |
71 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs752875393 CA10367306 |
73 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs3213451 CA412561671 CA412561670 |
74 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA412561668 rs1302616858 |
74 | Q>L | No |
ClinGen gnomAD |
|
|
CA327502252 rs983068417 |
75 | W>C | No |
ClinGen Ensembl |
|
| TCGA novel | 77 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10367321 rs139868528 |
84 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10367322 rs775712588 |
87 | M>L | No |
ClinGen ExAC |
|
|
rs368866917 CA10367323 |
87 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764062816 CA10367324 |
90 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA327502253 rs779941206 |
92 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 93 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10367327 RCV000968429 rs146730876 |
103 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 107 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10367330 rs758052304 |
111 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10367331 rs7059508 |
113 | Y>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 114 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412561969 rs1301518278 |
116 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1163044337 CA412561987 |
119 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1163044337 CA412561985 |
119 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1602137635 CA412562021 |
125 | S>Y | No |
ClinGen Ensembl |
|
|
CA10367341 rs777721295 |
127 | S>F | No |
ClinGen ExAC gnomAD |
|
| rs761369288 | 129 | S>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 129 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762761040 RCV001867915 RCV000591837 |
131 | S>missing | No |
ClinVar dbSNP |
|
|
rs1336335005 CA412562069 |
133 | S>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 134 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1337491993 RCV000722421 |
135 | S>missing | No |
ClinVar dbSNP |
|
|
rs1282903945 CA412562082 |
135 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs770841608 CA10367348 |
136 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1264428585 CA412562092 |
137 | L>P | No |
ClinGen gnomAD |
|
|
rs368198170 CA327502254 |
139 | N>K | No |
ClinGen ESP TOPMed |
|
|
rs1186093893 CA412562105 |
139 | N>T | No |
ClinGen gnomAD |
|
|
CA10367350 rs760781040 |
142 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA412562145 rs1475596840 |
145 | V>I | No |
ClinGen gnomAD |
|
|
CA10367367 rs767083102 |
147 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA10367369 rs200894692 |
154 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371913767 CA10367370 |
155 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1280853109 CA412562584 |
156 | Q>E | No |
ClinGen TOPMed |
|
|
rs398124306 CA223238 RCV000081785 |
158 | T>A | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA10367371 rs748244743 |
158 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA412562640 rs1442288147 |
160 | F>L | No |
ClinGen TOPMed |
|
|
CA412562656 rs1329949069 |
161 | F>L | No |
ClinGen TOPMed |
|
|
RCV000936295 CA10367372 rs142666676 |
162 | T>M | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1310673192 CA412562695 |
165 | L>F | No |
ClinGen gnomAD |
|
|
CA412562704 rs1409258004 |
166 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA327502676 rs1024027608 |
168 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs374810235 CA10367374 |
169 | V>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1282986235 CA412562774 |
173 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 178 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412562937 rs1191679832 |
185 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 192 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412562992 rs1569322828 |
193 | L>F | No |
ClinGen Ensembl |
|
|
CA412563007 rs1329684859 |
195 | I>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 208 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10367394 rs748348333 |
212 | I>K | No |
ClinGen ExAC gnomAD |
|
|
rs748348333 CA10367393 |
212 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA412563130 rs1393102443 |
213 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1295827667 CA412563169 |
219 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 220 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412563179 rs1085307977 RCV000489505 |
221 | F>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs866080066 CA327503895 |
226 | W>* | No |
ClinGen Ensembl |
|
|
rs1057524361 CA16608865 RCV000417649 |
232 | A>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 232 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 233 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748295304 CA10367586 |
234 | L>F | No |
ClinGen ExAC |
|
|
CA10367587 rs148691380 |
236 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369520528 RCV000081786 CA223240 |
236 | I>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs749769074 CA10367588 |
239 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 239 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 241 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs886042131 RCV000335401 CA10603848 |
243 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1256076257 CA412567918 |
244 | V>A | No |
ClinGen gnomAD |
|
|
RCV000386100 rs184109829 CA10367589 |
247 | L>V | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
| TCGA novel | 249 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 254 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759272359 CA10367591 |
260 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs771779703 CA10367592 |
261 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 263 | E>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1283471065 CA412568099 |
265 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA412568097 rs1283471065 |
265 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1216299718 CA412568152 |
270 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA412568166 rs1259403414 |
271 | R>T | No |
ClinGen gnomAD |
|
| TCGA novel | 274 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750166955 CA10367600 |
278 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221474092 CA412568242 |
281 | H>R | No |
ClinGen gnomAD |
|
|
CA327503955 rs964533586 |
285 | C>Y | No |
ClinGen TOPMed |
|
|
rs373227165 CA10367602 |
288 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412568299 rs1423227658 |
290 | V>M | No |
ClinGen gnomAD |
|
|
CA10367603 rs752895333 |
292 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756860363 CA327503956 |
292 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1410467705 CA412568374 |
300 | I>V | No |
ClinGen gnomAD |
|
|
rs749782461 CA10367606 |
301 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA327503958 rs147880530 |
304 | P>T | No |
ClinGen ESP |
|
|
CA10367607 rs769260473 |
306 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 308 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779146398 CA10367608 |
308 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA10367609 rs746297311 |
311 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA327503959 rs868239221 |
312 | A>E | No |
ClinGen Ensembl |
|
|
rs1288295974 CA412568499 |
313 | S>L | No |
ClinGen gnomAD |
|
|
CA412568544 rs1569327368 |
317 | Q>H | No |
ClinGen Ensembl |
|
|
CA412568535 rs1602149978 |
317 | Q>K | No |
ClinGen Ensembl |
|
|
rs1467226798 CA412568592 |
322 | V>I | No |
ClinGen gnomAD |
|
|
CA10367611 rs775328244 |
323 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 325 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412569204 rs1368683181 |
326 | K>R | No |
ClinGen TOPMed |
|
|
CA412569210 rs1429152981 |
327 | R>Q | No |
ClinGen TOPMed |
|
|
rs1347474724 CA412569239 |
332 | T>A | No |
ClinGen TOPMed |
|
|
rs762834383 CA10367638 |
332 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA279251 rs863223373 RCV000201401 |
338 | H>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 344 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412569365 rs1413539065 |
349 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs764440472 CA10367642 |
354 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370803875 CA327504550 |
356 | H>Y | No |
ClinGen ESP gnomAD |
|
|
CA10367650 rs755285561 |
357 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs771681518 CA10367651 |
360 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1372751448 CA412569457 |
361 | A>P | No |
ClinGen TOPMed |
|
|
CA10367652 rs747726888 |
362 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA412569474 rs1170383283 |
364 | A>T | No |
ClinGen gnomAD |
|
|
CA412569480 rs1430816006 |
365 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1469829254 CA412569494 RCV000498203 |
367 | A>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
| TCGA novel | 372 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1449634970 CA412569577 |
378 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 380 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10367654 rs777215127 |
380 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10367655 rs777215127 |
380 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1422602904 CA412569600 |
381 | S>L | No |
ClinGen TOPMed |
|
|
rs770788667 CA10367656 |
382 | S>N | No |
ClinGen ExAC |
|
| TCGA novel | 383 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774263672 CA10367657 |
385 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA327504551 rs202163046 |
387 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 388 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374092310 CA10367658 |
388 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs771739693 CA10367659 |
392 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs112505558 CA327504552 |
394 | H>R | No |
ClinGen Ensembl |
|
| TCGA novel | 401 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1456436785 CA412569746 |
403 | P>L | No |
ClinGen gnomAD |
|
|
CA412569745 rs761895185 |
403 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10367661 rs761895185 |
403 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA412569761 rs1197410694 |
405 | Q>H | No |
ClinGen gnomAD |
|
|
rs1247863023 CA412569782 |
408 | M>T | No |
ClinGen TOPMed |
|
|
rs1450771100 CA412569806 |
411 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA412569802 rs1247367105 |
411 | V>I | No |
ClinGen gnomAD |
|
|
rs763125730 CA10367664 |
413 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA10367663 rs200298161 |
413 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412569849 rs1252918617 |
418 | H>R | No |
ClinGen TOPMed |
|
|
rs373607391 CA10367665 |
419 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748863470 CA10367672 |
425 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 433 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1266977836 CA412569995 |
435 | I>L | No |
ClinGen TOPMed |
|
|
rs745759415 CA10367675 |
436 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA412570099 rs1490430757 |
445 | V>I | No |
ClinGen gnomAD |
|
|
CA412570111 rs1192475991 |
446 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 449 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 453 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1296560652 CA412570253 |
456 | A>T | No |
ClinGen gnomAD |
|
|
rs909562315 CA327504811 |
457 | I>T | No |
ClinGen gnomAD |
|
|
rs1195836787 CA412570262 |
457 | I>V | No |
ClinGen TOPMed |
|
|
CA10367684 rs752269916 |
473 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA327504812 rs141042365 |
473 | N>S | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 475 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412570532 rs1352897610 |
481 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 483 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs948326949 CA327504814 |
484 | I>T | No |
ClinGen TOPMed |
|
|
rs1242435554 CA412570580 |
485 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 488 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000081782 rs398124304 CA223234 |
490 | K>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA412570619 rs1602155866 |
490 | K>R | No |
ClinGen Ensembl |
|
|
CA412570630 rs1359867994 |
491 | D>E | No |
ClinGen gnomAD |
|
|
CA412570645 rs1357688045 |
494 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 503 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 507 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA16608810 RCV000421935 rs587776867 |
508 | N>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10367691 rs778352155 |
509 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA10367692 rs763783111 |
516 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA412570895 rs906734941 |
519 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA327504815 rs906734941 |
519 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA10367693 rs758206338 |
519 | R>W | No |
ClinGen ExAC gnomAD |
4 associated diseases with O43462
[MIM: 308205]: IFAP syndrome 1, with or without Bresheck syndrome (IFAP1)
An X-linked syndrome characterized by a peculiar triad of follicular ichthyosis, total or subtotal atrichia, and photophobia of varying degree. Histopathologically, the epidermal granular layer is generally well-preserved or thickened at the infundibulum. Hair follicles are poorly developed and tend to be surrounded by an inflammatory infiltrate. A subgroup of patients is described with lamellar rather than follicular ichthyosis. Non-consistent features may include growth and psychomotor retardation, aganglionic megacolon, seizures and nail dystrophy. {ECO:0000269|PubMed:19361614}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 300918]: Olmsted syndrome, X-linked (OLMSX)
A rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas. The digital constriction may progress to autoamputation of fingers and toes. {ECO:0000269|PubMed:22931912}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 308800]: Keratosis follicularis spinulosa decalvans X-linked (KFSDX)
A rare disorder affecting the skin and the eye. Affected men show thickening of the skin of the neck, ears, and extremities, especially the palms and soles, loss of eyebrows, eyelashes and beard, thickening of the eyelids with blepharitis and ectropion, and corneal degeneration. {ECO:0000269|PubMed:20672378}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 301014]: Osteogenesis imperfecta 19 (OI19)
An X-linked form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI19 is characterized by prenatal fractures, short stature, white sclerae, variable scoliosis and pectal deformity, striking tibial anterior angulation and generalized osteopenia. {ECO:0000269|PubMed:27380894}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An X-linked syndrome characterized by a peculiar triad of follicular ichthyosis, total or subtotal atrichia, and photophobia of varying degree. Histopathologically, the epidermal granular layer is generally well-preserved or thickened at the infundibulum. Hair follicles are poorly developed and tend to be surrounded by an inflammatory infiltrate. A subgroup of patients is described with lamellar rather than follicular ichthyosis. Non-consistent features may include growth and psychomotor retardation, aganglionic megacolon, seizures and nail dystrophy. {ECO:0000269|PubMed:19361614}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas. The digital constriction may progress to autoamputation of fingers and toes. {ECO:0000269|PubMed:22931912}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A rare disorder affecting the skin and the eye. Affected men show thickening of the skin of the neck, ears, and extremities, especially the palms and soles, loss of eyebrows, eyelashes and beard, thickening of the eyelids with blepharitis and ectropion, and corneal degeneration. {ECO:0000269|PubMed:20672378}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An X-linked form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI19 is characterized by prenatal fractures, short stature, white sclerae, variable scoliosis and pectal deformity, striking tibial anterior angulation and generalized osteopenia. {ECO:0000269|PubMed:27380894}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for O43462
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Peptidase M50 | 159 - 499 | IPR008915 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.4.24.85 | Metalloendopeptidases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| metal ion binding | Binding to a metal ion. |
| metalloendopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| ATF6-mediated unfolded protein response | The series of molecular signals mediated by the endoplasmic reticulum membrane stress sensor ATF6 (activating transcription factor 6). Begins with activation of ATF6 in response to endoplasmic reticulum (ER) stress, and ends with regulation of a downstream cellular process, e.g. transcription. Under conditions of endoplasmic reticulum stress, ATF6 translocates to the Golgi where it is processed by proteases to release a cytoplasmic domain (ATF6f), which operates as a transcriptional activator of many genes required to restore folding capacity. |
| bone maturation | A developmental process, independent of morphogenetic (shape) change, that is required for bone to attain its fully functional state. |
| cholesterol metabolic process | The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues. |
| endoplasmic reticulum unfolded protein response | The series of molecular signals generated as a consequence of the presence of unfolded proteins in the endoplasmic reticulum (ER) or other ER-related stress; results in changes in the regulation of transcription and translation. |
| membrane protein intracellular domain proteolysis | The proteolytic cleavage of a transmembrane protein leading to the release of an intracellular domain. |
| positive regulation of DNA-binding transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription. |
| positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter as a result of an endoplasmic reticulum stress. |
| regulation of cholesterol biosynthetic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol. |
| regulation of response to endoplasmic reticulum stress | Any process that modulates the frequency, rate or extent of response to endoplasmic reticulum stress. |
| response to endoplasmic reticulum stress | 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 stress acting at the endoplasmic reticulum. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MIPVSLVVVV | VGGWTVVYLT | DLVLKSSVYF | KHSYEDWLEN | NGLSISPFHI | RWQTAVFNRA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FYSWGRRKAR | MLYQWFNFGM | VFGVIAMFSS | FFLLGKTLMQ | TLAQMMADSP | SSYSSSSSSS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SSSSSSSSSS | SSSSSSLHNE | QVLQVVVPGI | NLPVNQLTYF | FTAVLISGVV | HEIGHGIAAI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| REQVRFNGFG | IFLFIIYPGA | FVDLFTTHLQ | LISPVQQLRI | FCAGIWHNFV | LALLGILALV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LLPVILLPFY | YTGVGVLITE | VAEDSPAIGP | RGLFVGDLVT | HLQDCPVTNV | QDWNECLDTI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AYEPQIGYCI | SASTLQQLSF | PVRAYKRLDG | STECCNNHSL | TDVCFSYRNN | FNKRLHTCLP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ARKAVEATQV | CRTNKDCKKS | SSSSFCIIPS | LETHTRLIKV | KHPPQIDMLY | VGHPLHLHYT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VSITSFIPRF | NFLSIDLPVV | VETFVKYLIS | LSGALAIVNA | VPCFALDGQW | ILNSFLDATL |
| 490 | 500 | 510 | |||
| TSVIGDNDVK | DLIGFFILLG | GSVLLAANVT | LGLWMVTAR |