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

5 structures for Q96CG3

Entry ID Method Resolution Chain Position Source
4YM4 X-ray 312 A PDB
4ZGI X-ray 270 A A 10-149 PDB
5ZUJ X-ray 260 A I 170-184 PDB
6A33 X-ray 210 A I 170-184 PDB
AF-Q96CG3-F1 Predicted AlphaFoldDB

128 variants for Q96CG3

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1304548289
CA357992102
2 T>N No ClinGen
gnomAD
rs907123851
CA104406577
3 S>N No ClinGen
Ensembl
rs767562614
CA3046213
4 F>S No ClinGen
ExAC
gnomAD
rs545028676
CA104406576
7 A>D No ClinGen
Ensembl
rs759343955
CA3046211
11 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA357992030
rs1187221003
12 T>I No ClinGen
gnomAD
CA3046209
rs766122633
14 T>I No ClinGen
ExAC
gnomAD
rs1201502442
CA357992010
16 L>F No ClinGen
gnomAD
CA3046208
rs762733411
16 L>R No ClinGen
ExAC
gnomAD
rs1201502442
CA357992008
16 L>V No ClinGen
gnomAD
COSM447241
CA3046207
rs772755702
CA104406575
17 Q>H Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
VAR_051422
CA3046206
rs6834237
19 T>M No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1243748377
CA357991967
22 H>R No ClinGen
gnomAD
rs1578431182
CA357991969
22 H>Y No ClinGen
Ensembl
rs775803812
CA3046203
24 G>C No ClinGen
ExAC
gnomAD
rs772627267
CA357991945
25 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA3046201
rs746228776
28 C>G No ClinGen
ExAC
TOPMed
gnomAD
rs1231493384
CA357991912
30 I>T No ClinGen
TOPMed
CA104406574
COSM1471599
rs984353886
34 I>V Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs774739590
CA3046200
35 S>R No ClinGen
ExAC
gnomAD
TCGA novel 39 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3046197
rs749425151
45 E>A No ClinGen
ExAC
gnomAD
rs778091662
CA3046196
47 V>M No ClinGen
ExAC
gnomAD
TCGA novel 49 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA357991782
rs1282512908
49 F>L No ClinGen
TOPMed
rs200608467
CA3046195
51 R>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3046194
rs748270021
51 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs147617925
CA3046193
52 N>D No ClinGen
ESP
ExAC
TOPMed
rs1030595375
CA104406569
53 S>P No ClinGen
TOPMed
CA357991734
rs1560620740
56 C>F No ClinGen
Ensembl
CA357991735
rs1560620740
56 C>Y No ClinGen
Ensembl
rs755030639
CA3046192
57 H>P No ClinGen
ExAC
gnomAD
CA3046191
rs751366814
58 Y>S No ClinGen
ExAC
gnomAD
CA357991716
rs1266986450
59 T>A No ClinGen
gnomAD
CA357991712
rs1233680461
59 T>I No ClinGen
gnomAD
rs758233841
CA3046189
60 F>C No ClinGen
ExAC
gnomAD
rs190573450
CA3046188
61 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA357991696
rs1340571021
62 D>N No ClinGen
gnomAD
rs1403237324
CA357991671
65 V>F No ClinGen
gnomAD
rs1176013464
CA357991662
66 S>F No ClinGen
TOPMed
gnomAD
CA3046186
rs367861259
67 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA357991658
rs1164133695
67 R>Q No ClinGen
gnomAD
CA357991645
rs1425275876
69 Q>H No ClinGen
gnomAD
rs1335147282
CA357991635
71 S>T No ClinGen
TOPMed
rs1200937820
CA357991629
72 L>V No ClinGen
gnomAD
TCGA novel 73 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1476671629
CA357991600
76 K>R No ClinGen
gnomAD
rs760087567
CA3046183
78 F>C No ClinGen
ExAC
gnomAD
CA357991576
rs1478463658
79 N>S No ClinGen
gnomAD
rs377395836
CA3046181
83 L>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 83 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA357991534
rs1268346767
85 F>L No ClinGen
gnomAD
rs1453475024
CA357991537
85 F>S No ClinGen
gnomAD
rs749672723
CA3046180
90 M>L No ClinGen
ExAC
gnomAD
rs749672723
CA357991501
90 M>V No ClinGen
ExAC
gnomAD
CA357991491
rs1290287295
91 S>N No ClinGen
TOPMed
TCGA novel 93 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA357991467
rs1317038287
94 T>S No ClinGen
gnomAD
CA3046179
rs773253158
95 N>H No ClinGen
ExAC
TOPMed
gnomAD
CA3046178
rs770115405
95 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1347528219
CA357991455
96 L>P No ClinGen
TOPMed
CA357991447
rs145658027
97 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs746895882
CA3046173
98 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA357991404
rs1173349394
104 G>R No ClinGen
gnomAD
rs758071418
CA3046171
106 L>Q No ClinGen
ExAC
gnomAD
CA3046169
rs764792124
107 N>K No ClinGen
ExAC
gnomAD
CA3046170
rs750289659
107 N>S No ClinGen
ExAC
gnomAD
rs753321052
CA3046167
109 M>R No ClinGen
ExAC
gnomAD
CA3046165
rs199883669
110 D>A No ClinGen
ExAC
CA357991362
rs199883669
110 D>G No ClinGen
ExAC
CA3046166
rs763542537
110 D>H No ClinGen
ExAC
gnomAD
CA357991353
rs1469074069
112 P>A No ClinGen
Ensembl
CA104406567
rs1034397169
115 C>Y No ClinGen
Ensembl
CA3046162
rs373194424
116 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3046161
rs149765370
117 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1303575134
CA357991313
118 R>G No ClinGen
gnomAD
rs762145910
CA357991298
CA3046159
120 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1309950243
CA357991289
121 E>G No ClinGen
TOPMed
TCGA novel 123 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA357991275
rs1333707674
123 Q>K No ClinGen
TOPMed
gnomAD
rs1327484893
CA357991261
125 L>V No ClinGen
TOPMed
CA357991251
rs1234496419
126 M>I No ClinGen
TOPMed
rs1359051431
CA357991256
126 M>L No ClinGen
gnomAD
rs1047003428
CA104406565
126 M>T No ClinGen
TOPMed
gnomAD
rs777016113
CA3046158
127 E>D No ClinGen
ExAC
gnomAD
CA104406564
rs994473821
128 K>E No ClinGen
Ensembl
CA357991238
rs1425942008
128 K>R No ClinGen
gnomAD
CA357991211
rs747090217
132 E>* No ClinGen
ExAC
gnomAD
CA3046156
rs747090217
132 E>K No ClinGen
ExAC
gnomAD
CA3046154
rs151053905
136 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA357991178
rs1470410169
136 F>L No ClinGen
gnomAD
rs1236727820
CA357991162
138 E>D No ClinGen
TOPMed
gnomAD
rs1302572317 143 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3046152
rs745618298
143 L>F No ClinGen
ExAC
gnomAD
CA3046151
rs144304339
144 S>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3046150
rs757021762
145 P>T No ClinGen
ExAC
gnomAD
CA357991110
rs1578430899
146 R>S No ClinGen
Ensembl
rs777403705
CA3046148
147 S>* No ClinGen
ExAC
TOPMed
gnomAD
rs146364351
CA3046146
148 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs139652915
CA3046147
148 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs369015007
CA3046145
149 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759247567
CA104406562
150 Q>K No ClinGen
TOPMed
gnomAD
CA357991091
rs1390988700
150 Q>R No ClinGen
TOPMed
rs1461589229
CA357991083
151 E>G No ClinGen
TOPMed
CA357991071
rs763557853
153 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA3046143
rs763557853
153 N>H No ClinGen
ExAC
TOPMed
gnomAD
rs763557853
CA3046144
153 N>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1362645546
CA357991046
156 P>L No ClinGen
gnomAD
CA3046141
rs750733961
156 P>S No ClinGen
ExAC
gnomAD
CA3046137
rs377097517
161 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA357991013
rs377097517
161 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 163 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA357990993
rs1258154430
164 G>D No ClinGen
gnomAD
rs977738387
CA104406561
165 T>A No ClinGen
Ensembl
CA357990978
CA357990979
rs701759
166 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA104406560
rs386678484
167 S>L No ClinGen
Ensembl
rs199732553
CA3046133
167 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs372161211
CA3046132
168 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1288079952
CA357990963
169 C>S No ClinGen
gnomAD
rs770689605
CA3046131
170 S>T No ClinGen
ExAC
gnomAD
COSM143610
rs1356602224
CA357990949
171 S>F skin [Cosmic] No ClinGen
cosmic curated
gnomAD
rs770536962
CA3046129
173 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs144405805
CA3046128
176 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs188242608
CA104406557
178 E>* No ClinGen
1000Genomes
rs1002946108
CA104406556
179 M>V No ClinGen
Ensembl
CA3046125
rs780805703
180 D>G No ClinGen
ExAC
gnomAD
TCGA novel 181 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1462839352
CA357990872
182 N>S No ClinGen
gnomAD

No associated diseases with Q96CG3

3 regional properties for Q96CG3

Type Name Position InterPro Accession
domain Transmembrane protein TMEM132, N-terminal 50 - 167 IPR031435
domain Transmembrane protein TMEM132, C-terminal 821 - 902 IPR031436
domain Transmembrane protein family 132, middle domain 407 - 749 IPR031437

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Colocalizes with lysosomal marker LAMP2 following homooligomerization and subsequent activation
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

5 GO annotations of biological process

Name Definition
cytoplasmic pattern recognition receptor signaling pathway The series of molecular signals initiated by a ligand binding to a cytoplasmic pattern recognition receptor (PRR). PRRs bind pathogen-associated molecular pattern (PAMPs), structures conserved among microbial species.
I-kappaB kinase/NF-kappaB signaling The process in which a signal is passed on to downstream components within the cell through the I-kappaB-kinase (IKK)-dependent activation of NF-kappaB. The cascade begins with activation of a trimeric IKK complex (consisting of catalytic kinase subunits IKKalpha and/or IKKbeta, and the regulatory scaffold protein NEMO) and ends with the regulation of transcription of target genes by NF-kappaB. In a resting state, NF-kappaB dimers are bound to I-kappaB proteins, sequestering NF-kappaB in the cytoplasm. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing the NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription.
innate immune response Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
positive regulation of I-kappaB kinase/NF-kappaB signaling Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling.
protein homooligomerization The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer.

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A2VDM0 TIFA TRAF-interacting protein with FHA domain-containing protein A Bos taurus (Bovine) PR
Q793I8 Tifa TRAF-interacting protein with FHA domain-containing protein A Mus musculus (Mouse) PR
Q5XIB9 Tifa TRAF-interacting protein with FHA domain-containing protein A Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MTSFEDADTE ETVTCLQMTV YHPGQLQCGI FQSISFNREK LPSSEVVKFG RNSNICHYTF
70 80 90 100 110 120
QDKQVSRVQF SLQLFKKFNS SVLSFEIKNM SKKTNLIVDS RELGYLNKMD LPYRCMVRFG
130 140 150 160 170 180
EYQFLMEKED GESLEFFETQ FILSPRSLLQ ENNWPPHRPI PEYGTYSLCS SQSSSPTEMD
ENES