Q96A26
Gene name |
FAM162A (C3orf28, E2IG5, DC16, FWP001) |
Protein name |
Protein FAM162A |
Names |
E2-induced gene 5 protein, Growth and transformation-dependent protein, HGTD-P |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:26355 |
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 Q96A26
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96A26-F1 | Predicted | AlphaFoldDB |
133 variants for Q96A26
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs755437516 CA2570287 |
2 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225542726 CA354160138 |
2 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 3 | S>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2570288 rs115407410 |
3 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200828323 CA2570289 |
4 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1476366520 CA354160175 |
5 | S>G | No |
ClinGen TOPMed |
|
|
CA82766953 rs868299833 |
6 | G>C | No |
ClinGen TOPMed |
|
|
rs1275244643 CA354160193 |
6 | G>D | No |
ClinGen gnomAD |
|
|
rs868299833 CA354160189 |
6 | G>R | No |
ClinGen TOPMed |
|
|
rs1469226938 CA354160211 |
8 | R>C | No |
ClinGen gnomAD |
|
|
rs781609459 CA2570290 |
8 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140995238 CA2570292 |
10 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354164231 rs1168239605 |
12 | G>E | No |
ClinGen gnomAD |
|
|
CA82762760 rs1036051638 |
13 | S>G | No |
ClinGen TOPMed |
|
|
rs1432727556 CA354164262 |
16 | R>K | No |
ClinGen gnomAD |
|
|
rs749708701 CA354164264 |
16 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201624968 CA2570316 |
17 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1348398366 CA354164273 |
18 | C>R | No |
ClinGen TOPMed |
|
|
CA354164277 rs1560001658 |
18 | C>Y | No |
ClinGen Ensembl |
|
|
rs778487652 CA2570317 |
19 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373633927 CA2570318 |
20 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA82762783 rs531678380 |
20 | R>K | No |
ClinGen Ensembl |
|
|
rs1328372159 CA354164292 |
21 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs778571663 CA82762793 |
22 | V>I | No |
ClinGen TOPMed |
|
|
CA354164328 rs1560001670 |
27 | R>G | No |
ClinGen Ensembl |
|
|
CA354164336 rs1233353002 |
28 | L>F | No |
ClinGen gnomAD |
|
|
rs1404836392 CA354164346 |
29 | T>I | No |
ClinGen TOPMed |
|
|
rs11555937 CA82762816 |
30 | R>G | No |
ClinGen Ensembl |
|
|
rs930471281 CA82762821 |
31 | S>T | No |
ClinGen Ensembl |
|
| TCGA novel | 38 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354164405 rs1162016480 |
38 | N>Y | No |
ClinGen TOPMed |
|
|
CA2570324 rs776548425 |
39 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 39 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1281738853 CA354164429 |
41 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1281738853 CA354164427 |
41 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA2570325 rs759386513 |
42 | T>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 43 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2570326 rs527285562 |
44 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354164462 rs1294651109 |
46 | E>G | No |
ClinGen gnomAD |
|
|
CA2570327 rs752371117 |
47 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1177574416 CA354164475 |
48 | P>S | No |
ClinGen TOPMed |
|
|
rs745565586 CA2570329 |
49 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354164484 rs1009201381 |
50 | A>P | No |
ClinGen TOPMed |
|
|
rs1009201381 CA82762871 |
50 | A>T | No |
ClinGen TOPMed |
|
|
CA82762877 VAR_028849 rs17850692 |
50 | A>V | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs199578714 CA2570331 COSM1238831 COSM1238830 |
53 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA354164514 rs1326915969 |
53 | R>H | No |
ClinGen gnomAD |
|
|
CA2570346 CA354164539 rs775378118 |
55 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs747971677 CA2570345 |
55 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs947256688 CA82763612 |
55 | Y>H | No |
ClinGen TOPMed |
|
|
CA354164583 rs1300454506 |
59 | P>L | No |
ClinGen TOPMed |
|
|
CA354164598 rs1576252537 |
61 | H>Y | No |
ClinGen Ensembl |
|
|
CA2570348 rs767822587 |
62 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA354164625 rs1344998372 |
63 | P>L | No |
ClinGen TOPMed |
|
|
CA2570349 rs138311983 |
64 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 65 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2570351 rs371721266 |
66 | W>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2570352 rs753902355 |
68 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1194045169 CA354164705 |
69 | K>E | No |
ClinGen gnomAD |
|
|
rs1252550911 CA354164735 |
71 | L>V | No |
ClinGen gnomAD |
|
|
rs755537046 CA2570353 |
72 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781184981 CA82763692 |
74 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs779234341 CA354164791 |
75 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354164785 rs1415957411 |
75 | G>S | No |
ClinGen gnomAD |
|
|
rs779234341 CA2570354 |
75 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2570355 rs376464403 |
76 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2570356 rs149572114 |
76 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs149572114 CA82763716 |
76 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777463955 CA2570357 |
77 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2570358 rs199848888 |
78 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2570359 rs372973157 |
78 | K>R | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA2570360 rs372973157 |
78 | K>T | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1311676733 CA354164866 |
81 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1353196302 CA354164876 |
82 | E>G | No |
ClinGen gnomAD |
|
|
CA82763745 rs1015707755 |
85 | E>* | No |
ClinGen TOPMed |
|
|
rs769819160 CA2570363 |
88 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs377168422 CA2570362 |
88 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780800119 CA2570381 |
89 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA354165008 rs1314906292 |
90 | E>K | No |
ClinGen TOPMed |
|
|
CA354165020 rs1350213889 |
91 | M>T | No |
ClinGen gnomAD |
|
|
rs1560002860 CA354165029 |
92 | L>P | No |
ClinGen Ensembl |
|
|
rs745425405 CA2570382 |
94 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA354165040 rs1260394716 |
94 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 95 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755576427 CA2570383 |
96 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2570384 rs372529727 |
96 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1037124 CA2570385 COSM1037123 rs749194849 |
100 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA354165085 rs1192359264 |
100 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2570386 rs768647728 |
101 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1436079018 CA354165098 |
102 | K>N | No |
ClinGen gnomAD |
|
|
rs1408702727 CA354165109 |
104 | S>N | No |
ClinGen gnomAD |
|
|
rs1017766093 CA82765405 |
107 | M>T | No |
ClinGen TOPMed |
|
| TCGA novel | 107 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 110 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2570388 COSM389852 rs192168910 COSM389853 |
111 | T>M | lung ovary [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1451248767 CA354165153 |
111 | T>P | No |
ClinGen gnomAD |
|
|
rs1439868514 CA354165163 |
112 | V>A | No |
ClinGen gnomAD |
|
|
rs1168155394 CA354165168 |
113 | V>A | No |
ClinGen TOPMed |
|
|
rs759724441 CA2570391 |
118 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1254666430 CA354165230 |
122 | G>C | No |
ClinGen gnomAD |
|
|
CA354165240 rs1315189745 |
123 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1306312023 CA354165238 |
123 | K>R | No |
ClinGen gnomAD |
|
|
rs1218258506 CA354165250 |
124 | K>M | No |
ClinGen gnomAD |
|
|
rs868701883 CA82765418 |
124 | K>Q | No |
ClinGen Ensembl |
|
|
CA354165247 rs1218258506 |
124 | K>T | No |
ClinGen gnomAD |
|
|
rs181265174 CA2570435 |
126 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs181265174 CA2570434 |
126 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1417313439 CA354165741 |
126 | A>V | No |
ClinGen gnomAD |
|
|
rs752035060 CA82767306 |
127 | Q>R | No |
ClinGen TOPMed |
|
|
rs754763531 CA2570436 |
129 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354165769 rs1411643459 |
129 | H>Y | No |
ClinGen gnomAD |
|
|
CA354165783 rs753520254 |
130 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 130 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2570437 rs753520254 |
130 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs759171418 CA2570438 |
132 | L>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 134 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354165842 rs764846914 |
135 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354165835 rs1469391033 |
135 | L>M | No |
ClinGen TOPMed |
|
|
rs948652646 CA82767343 |
139 | K>N | No |
ClinGen TOPMed |
|
|
rs1341257535 CA354165909 |
141 | A>V | No |
ClinGen gnomAD |
|
|
CA2570440 COSM1037125 rs200828064 COSM1037126 |
142 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2570441 rs73188392 |
142 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs73188392 CA2570442 |
142 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs527415345 CA2570444 |
146 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs139675088 CA2570446 |
149 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2570445 rs200080555 |
149 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755125479 CA2570447 |
150 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1576254875 CA354166011 |
151 | A>D | No |
ClinGen Ensembl |
|
|
CA82767392 rs940527824 |
151 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA2570448 rs778994095 |
152 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2570449 rs748176562 |
152 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2570450 rs772505072 |
154 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs773734248 CA2570451 |
155 | E>Q | No |
ClinGen ExAC gnomAD |
No associated diseases with Q96A26
No regional properties for Q96A26
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q96A26 | |||
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
| mitochondrial membrane | Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of cysteine-type endopeptidase activity involved in apoptotic process | Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase in the context of an apoptotic process. |
| cellular response to hypoxia | 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 stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
| neuron apoptotic process | Any apoptotic process in a neuron, the basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of release of cytochrome c from mitochondria | Any process that increases the rate, frequency or extent of release of cytochrome c from mitochondria, the process in which cytochrome c is enabled to move from the mitochondrial intermembrane space into the cytosol, which is an early step in apoptosis and leads to caspase activation. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A6QPI4 | FAM162B | Protein FAM162B | Bos taurus (Bovine) | PR |
| Q5T6X4 | FAM162B | Protein FAM162B | Homo sapiens (Human) | PR |
| Q9D6U8 | Fam162a | Protein FAM162A | Mus musculus (Mouse) | PR |
| Q9CX19 | Fam162b | Protein FAM162B | Mus musculus (Mouse) | PR |
| Q4QQV3 | Fam162a | Protein FAM162A | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGSLSGLRLA | AGSCFRLCER | DVSSSLRLTR | SSDLKRINGF | CTKPQESPGA | PSRTYNRVPL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| HKPTDWQKKI | LIWSGRFKKE | DEIPETVSLE | MLDAAKNKMR | VKISYLMIAL | TVVGCIFMVI |
| 130 | 140 | 150 | |||
| EGKKAAQRHE | TLTSLNLEKK | ARLKEEAAMK | AKTE |