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
Expand all
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
Other Identifiers
11727084_at
11727085_s_at
11748025_s_at
13093
14362
16777185
1XIR
223278_at
2706
2ZW3
3504194
3504195
3504196
3504197
3504198
3504199
3504200
3504206
3IZ1
3IZ2
5ER7
5ERA
5KJ3
5KJG
7970441
80411_g_at
88237_s_at
91306_s_at
A_23_P204941
AAD21314
AAF91440
AAH17048
AAH71703
AAL87696
AAP34178
AAP35378
AAQ17213
AAQ94940
AAQ94941
AAQ94942
AAQ94943
AAQ94944
AAQ94945
AAQ94946
AAQ94947
AAQ94948
AAY25169
AAY25170
AF281280
AF479776
AFG29040
AFG29041
AL138688
AY255853
AY275646
AY275647
AY275648
AY275649
AY275650
AY275651
AY275652
AY275653
AY275654
AY280971
AY953438
AY953441
BC017048
BC071703
BT006732
CAB013093
CCDS9290
CH471075
EAX08252
EAX08253
ENSG00000165474
ENSP00000372295
ENSP00000372299
ENST00000382844
ENST00000382844.2
ENST00000382848
ENST00000382848.5
EntrezGene:2706
EntrezGene:GJB2
g4481752_3p_at
GE81341
GJB2
GJB2-201
GJB2-202
GO:0000003
GO:0002931
GO:0003674
GO:0005243
GO:0005509
GO:0005575
GO:0005622
GO:0005623
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
H9U1J4
HGNC:4284
HPA014362
ILMN_1769388
IPR000500
IPR002268
IPR013092
IPR017990
IPR019570
IPR038359
JQ342677
JQ595559
M86849
M86849_at
MH188083
MH234064
MH234066
MH234067
MH234068
MH234069
MH234071
MH234072
MH234073
MH234074
MH234075
MH234076
MH234077
MH234078
MH234079
MH234080
MH234081
MH234082
MH234083
MH234084
MH234085
MH234086
MH234087
MH234088
MH234089
MH234090
MH234091
MH234092
MH234093
MH234094
MH234095
MH234096
MH234097
MH234098
MH234099
MH234100
MH234101
MH234102
MH234103
MH234104
MH234106
MH234107
MH234108
MH234109
MH234110
MH234111
MH234112
MH234114
MH234116
MH234117
MH234118
MH234119
MH311556
MH311557
MIM:121011
MIM:124500
MIM:148210
MIM:148350
MIM:149200
MIM:220290
MIM:304400
MIM:601544
MIM:602540
NM_004004
NP_003995
PF00029
PH_hs_0016113
PR00206
PR01139
QAT92916
QAU32526
QAU32528
QAU32529
QAU32530
QAU32531
QAU32533
QAU32534
QAU32535
QAU32536
QAU32537
QAU32538
QAU32539
QAU32540
QAU32541
QAU32542
QAU32543
QAU32544
QAU32545
QAU32546
QAU32547
QAU32548
QAU32549
QAU32550
QAU32551
QAU32552
QAU32553
QAU32554
QAU32555
QAU32556
QAU32557
QAU32558
QAU32559
QAU32560
QAU32561
QAU32562
QAU32563
QAU32564
QAU32565
QAU32566
QAU32568
QAU32569
QAU32570
QAU32571
QAU32572
QAU32573
QAU32574
QAU32576
QAU32578
QAU32579
QAU32580
QAU32581
QBA97384
QBA97385
SM00037
SM01089
TC13000456.hg
UPI000006D6A3
XM_011535049
XP_011533351
Participant Of
hasCandidate
hasComponent
input
Other forms of this molecule
GJB2 [plasma membrane]
GJB2 [endoplasmic reticulum membrane]
Inferred To
GJB2 [endoplasmic reticulum-Golgi intermediate compartment] (Bos taurus)
GJB2 [endoplasmic reticulum-Golgi intermediate compartment] (Canis familiaris)
GJB2 [endoplasmic reticulum-Golgi intermediate compartment] (Danio rerio)
GJB2 [endoplasmic reticulum-Golgi intermediate compartment] (Gallus gallus)
GJB2 [endoplasmic reticulum-Golgi intermediate compartment] (Mus musculus)
GJB2 [endoplasmic reticulum-Golgi intermediate compartment] (Rattus norvegicus)
GJB2 [endoplasmic reticulum-Golgi intermediate compartment] (Sus scrofa)
GJB2 [endoplasmic reticulum-Golgi intermediate compartment] (Xenopus tropicalis)
Cross References
RefSeq
OpenTargets
GeneCards
PRO
Orphanet
PDB
Interactors (32)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P29033 GJB2  3 0.689 4
 UniProt:Q86WK6 AMGO1      0.488 2
 UniProt:P48165 GJA8  1 0.488 2
 UniProt:Q96DS6 M4A6E      0.488 2
 UniProt:Q96CS7 PKHB2      0.488 2
 UniProt:Q3SXP7 SHSL1      0.488 2
 UniProt:Q8TDT2 GP152      0.488 2
 UniProt:Q96A25 T106A      0.488 2
 UniProt:P47884 OR1D4  1 0.488 4
 UniProt:Q58DX5-2 NAALADL2      0.488 2
 UniProt:Q8WWF3 SSMM1      0.488 2
 UniProt:Q9Y320 TMX2      0.488 2
 UniProt:Q9NPL8 TIMMDC1  1 0.488 2
 UniProt:Q9Y282 ERGI3      0.488 2
 UniProt:Q8TAF8 LHPL5      0.488 2
 UniProt:O00623 PEX12  2 0.488 2
 IntAct:EBI-12003048 TMEM31      0.488 2
 UniProt:O15552 FFAR2  1 0.488 2
 UniProt:Q15125 EBP  1 0.488 2
 UniProt:P34981 TRHR  1 0.488 2
 UniProt:P35414 APLNR  1 0.488 2
 UniProt:P26715 KLRC1  1 0.488 2
 UniProt:P54219-3 P542193      0.488 2
 UniProt:Q9BRI3 SLC30A2  2 0.488 2
 UniProt:Q6ZSS7 MFSD6      0.488 2
 UniProt:Q9NR31 SAR1A      0.488 2
 UniProt:Q5JX71 F209A      0.488 2
 UniProt:Q96MV1 TLCD4      0.488 2
 UniProt:Q9BX73 TM2D2      0.488 2
 UniProt:Q96Q45-2 TMEM237      0.488 2
 UniProt:O95279 KCNK5  1 0.488 2
 UniProt:Q3SXY8 ARL13B  7 0.488 2