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GJB2 [endoplasmic reticulum-Golgi intermediate compartment]
Stable Identifier
R-HSA-190614
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum-Golgi intermediate compartment
Synonyms
Connexin 26, Gap junction beta-2 protein (Connexin 26) (Cx26), Gap junction beta-2 protein, Cx26
Locations in the PathwayBrowser for interactor UniProt:Q8TDT2
Expand all
Vesicle-mediated transport (Homo sapiens)
Membrane Trafficking (Homo sapiens)
Gap junction trafficking and regulation (Homo sapiens)
Gap junction trafficking (Homo sapiens)
Gap junction assembly (Homo sapiens)
Oligomerization of connexins into connexons (Homo sapiens)
Connexin oligomerization in ER-Golgi-Intermediate Compartment (Homo sapiens)
GJB2 [endoplasmic reticulum-Golgi intermediate compartment] (Homo sapiens)
External Reference Information
External Reference
UniProt:P29033 GJB2
Gene Names
GJB2
Chain
chain:1-226
Reference Genes
BioGPS Gene:2706 GJB2
COSMIC (genes):GJB2 GJB2
CTD Gene:2706 GJB2
dbSNP Gene:2706 GJB2
ENSEMBL:ENSG00000165474 GJB2
HGNC:4284 GJB2
KEGG Gene (Homo sapiens):2706 GJB2
Monarch:2706 GJB2
NCBI Gene:2706 GJB2
OMIM:121011 GJB2
UCSC:P29033 GJB2
Reference Transcript
RefSeq:XM_011535049.2 GJB2
RefSeq:NM_004004.5 GJB2
Other Identifiers
11727084_at
11727085_s_at
11748025_s_at
16777185
223278_at
2706
3504194
3504195
3504196
3504197
3504198
3504199
3504200
3504206
7970441
80411_g_at
88237_s_at
91306_s_at
A_23_P204941
GE81341
GO:0000003
GO:0002931
GO:0003674
GO:0005243
GO:0005509
GO:0005515
GO:0005575
GO:0005622
GO:0005737
GO:0005793
GO:0005829
GO:0005886
GO:0005887
GO:0005921
GO:0005922
GO:0006810
GO:0006950
GO:0007154
GO:0007267
GO:0007565
GO:0007568
GO:0007605
GO:0008150
GO:0010644
GO:0016020
GO:0016021
GO:0016264
GO:0016328
GO:0022607
GO:0022857
GO:0030054
GO:0032355
GO:0032496
GO:0032526
GO:0032570
GO:0032991
GO:0034330
GO:0034599
GO:0042802
GO:0043167
GO:0043226
GO:0044297
GO:0044752
GO:0046677
GO:0046697
GO:0046872
GO:0048471
GO:0048839
GO:0048856
GO:0050877
GO:0055085
GO:0071377
GO:0071549
GO:0097449
GO:1903763
GO:1905867
GO:1990349
HMNXSV003012067
ILMN_1769388
M86849_at
PH_hs_0016113
TC13000456.hg
g4481752_3p_at
Participates
as a component of
Connexin 26 Connexon [endoplasmic reticulum-Golgi intermediate compartment] (Homo sapiens)
Connexin 26:Connexin 32 connexon [endoplasmic reticulum-Golgi intermediate compartment] (Homo sapiens)
as a candidate of
Cx26/Cx32 [endoplasmic reticulum-Golgi intermediate compartment] (Homo sapiens)
as an input of
Connexin oligomerization in ER-Golgi-Intermediate Compartment (Homo sapiens)
Other forms of this molecule
GJB2 [endoplasmic reticulum membrane]
GJB2 [plasma membrane]
Inferred To
Homologues of GJB2 [endoplasmic reticulum-Golgi intermediate compartment]
(Gallus gallus)
Gjb2 [endoplasmic reticulum-Golgi intermediate compartment]
(Mus musculus)
Gjb2 [endoplasmic reticulum-Golgi intermediate compartment]
(Rattus norvegicus)
GJB6 [endoplasmic reticulum-Golgi intermediate compartment]
(Gallus gallus)
gjb2 [endoplasmic reticulum-Golgi intermediate compartment]
(Xenopus tropicalis)
GJB2 [endoplasmic reticulum-Golgi intermediate compartment]
(Bos taurus)
GJB2 [endoplasmic reticulum-Golgi intermediate compartment]
(Canis familiaris)
GJB2 [endoplasmic reticulum-Golgi intermediate compartment]
(Gallus gallus)
gjb8 [endoplasmic reticulum-Golgi intermediate compartment]
(Danio rerio)
Cross References
RefSeq
XP_011533351.1
,
NP_003995.2
OpenTargets
ENSG00000165474
GeneCards
P29033
HPA
ENSG00000165474-GJB2
Ensembl
ENSP00000372299
,
ENSG00000165474
,
ENST00000382844
,
ENSP00000372295
,
ENST00000382848
PRO
P29033
Orphanet
16130
PDB
3IZ2
,
5KJ3
,
5ERA
,
6UVR
,
5KJG
,
6UVT
,
5ER7
,
3IZ1
,
2ZW3
,
6UVS
,
1XIR
Interactors (38)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P29033 GJB2
3
GJB2 [endoplasmic reticulum membrane]
(R-HSA-1629779)
GJB2 [endoplasmic reticulum-Golgi intermediate compartment]
(R-HSA-190614)
GJB2 [plasma membrane]
(R-HSA-53211)
0.689
4
IntAct:EBI-22326698 CCSB ORF ID
0.556
3
UniProt:Q0VAB0 Q0VAB0
0.556
3
UniProt:Q86WK6 AMGO1
0.556
3
UniProt:P48165 GJA8
1
GJA8 [endoplasmic reticulum membrane]
(R-HSA-190702)
0.556
3
UniProt:Q96CS7 PKHB2
0.556
3
UniProt:Q96DS6 M4A6E
0.556
3
UniProt:Q8TDT2 GP152
0.556
3
UniProt:Q3SXP7 SHSL1
0.556
3
UniProt:Q96A25 T106A
0.556
3
UniProt:Q8WWF3 SSMM1
0.556
3
UniProt:O15529 GPR42
0.556
3
UniProt:P36382 GJA5
1
GJA5 [endoplasmic reticulum membrane]
(R-HSA-190648)
0.556
3
UniProt:Q9Y320 TMX2
0.556
3
UniProt:Q9Y282 ERGI3
0.556
3
UniProt:Q8TAF8 LHFPL5
1
LHFPL5 [plasma membrane]
(R-HSA-9658860)
0.556
3
UniProt:O00623 PEX12
2
PEX12 [peroxisomal membrane]
(R-HSA-8953911)
PEX12 [cytosol]
(R-HSA-9603782)
0.556
3
UniProt:O95279 KCNK5
1
KCNK5 [plasma membrane]
(R-HSA-1296323)
0.556
3
UniProt:Q96Q45-2 TMEM237
0.556
3
UniProt:Q9BX73 TM2D2
0.556
3
UniProt:Q96MV1 TLCD4
0.556
3
UniProt:Q5JX71 F209A
0.556
3
UniProt:Q9NR31 SAR1A
0.556
3
UniProt:Q6ZSS7 MFSD6
0.556
3
UniProt:Q13520 AQP6
1
AQP6 [transport vesicle membrane]
(R-HSA-431741)
0.556
3
UniProt:Q9HCJ2 LRC4C
0.556
3
UniProt:P54219-3 P542193
0.556
3
UniProt:Q8N6K0 TEX29
0.556
3
UniProt:Q7Z5P4 HSD17B13
1
HSD17B13 [cytosol]
(R-HSA-8862029)
0.556
3
UniProt:P08034 GJB1
2
GJB1 [endoplasmic reticulum-Golgi intermediate compartment]
(R-HSA-190636)
GJB1 [endoplasmic reticulum membrane]
(R-HSA-190656)
0.556
3
UniProt:Q9BRI3 SLC30A2
2
SLC30A2 [synaptic vesicle membrane]
(R-HSA-4084714)
SLC30A2 [endosome membrane]
(R-HSA-435363)
0.556
3
UniProt:Q15125 EBP
1
EBP [endoplasmic reticulum membrane]
(R-HSA-195697)
0.556
3
UniProt:Q3SXY8 ARL13B
8
PolyUb-Misfolded ARL13B [cytosol]
(R-HSA-9641129)
PolyUb-Misfolded ARL13B [lysosomal lumen]
(R-HSA-9660004)
Ub-Misfolded ARL13B [cytosol]
(R-HSA-9641119)
Misfolded ARL13B [cytosol]
(R-HSA-9640110)
Misfolded ARL13B [cilium]
(R-HSA-9640116)
ARL13B [cilium]
(R-HSA-5618181)
PolyUb-Misfolded ARL13B [late endosome lumen]
(R-HSA-9659986)
ARL13B [plasma membrane]
(R-HSA-9716787)
0.556
3
UniProt:Q9NPL8 TIMMDC1
1
TIMMDC1 [mitochondrial inner membrane]
(R-HSA-5689720)
0.556
3
UniProt:O15552 FFAR2
1
FFAR2 [plasma membrane]
(R-HSA-443944)
0.556
3
UniProt:P26715 KLRC1
1
KLRC1 [plasma membrane]
(R-HSA-3006545)
0.556
3
UniProt:P34981 TRHR
1
TRHR [plasma membrane]
(R-HSA-444556)
0.556
3
UniProt:P35414 APLNR
1
APLNR [plasma membrane]
(R-HSA-374259)
0.556
3
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