Reactome | GJB2 [endoplasmic reticulum membrane]

GJB2 [endoplasmic reticulum membrane]

Stable Identifier

R-HSA-1629779

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

endoplasmic reticulum membrane

Synonyms

Connexin 26, Gap junction beta-2 protein (Connexin 26) (Cx26), Gap junction beta-2 protein, Cx26

Locations in the PathwayBrowser

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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:hsa: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

16777185

223278_PM_at

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:0002931

GO:0005215

GO:0005243

GO:0005509

GO:0005515

GO:0005793

GO:0005886

GO:0005921

GO:0005922

GO:0007154

GO:0007267

GO:0007565

GO:0007605

GO:0010644

GO:0016264

GO:0016328

GO:0022414

GO:0023052

GO:0030054

GO:0032355

GO:0032496

GO:0032526

GO:0032570

GO:0034330

GO:0034599

GO:0042802

GO:0043226

GO:0044297

GO:0044752

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 an output of

Synthesis of Cx26 (Homo sapiens)

as a member of

Cx26/Cx32 [endoplasmic reticulum membrane] (Homo sapiens)

Other forms of this molecule

GJB2 [endoplasmic reticulum-Golgi intermediate compartment]

GJB2 [plasma membrane]

Cross References

RefSeq

NP_003995.2, XP_011533351.1

Guide to Pharmacology - Targets

716

OpenTargets

ENSG00000165474

ENSEMBL

ENST00000382848, ENSP00000372295, ENSP00000372299, ENST00000382844

HPA

ENSG00000165474-GJB2

PRO

P29033

Pharos - Targets

P29033

Orphanet

GJB2

PDB

7QER, 2ZW3, 7QEY, 5KJG, 7QEW, 7QES, 7QEV, 8QA0, 5ERA, 8QA3, 3IZ2, 7QET, 6UVT, 8QA1, 6UVS, 3IZ1, 8Q9Z, 5ER7, 6UVR, 7QEQ, 7QEO, 5KJ3, 7QEU, 8QA2

Interactors (38)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P29033 GJB2	3	GJB2 [endoplasmic reticulum-Golgi intermediate compartment] (R-HSA-190614) GJB2 [endoplasmic reticulum membrane] (R-HSA-1629779) GJB2 [plasma membrane] (R-HSA-53211)	0.689	4
UniProt:P26715 KLRC1	1	KLRC1 [plasma membrane] (R-HSA-3006545)	0.556	3
UniProt:Q8N6K0 TEX29			0.556	3
UniProt:P54219-3 P542193			0.556	3
UniProt:Q9HCJ2 LRC4C			0.556	3
UniProt:Q13520 AQP6	1	AQP6 [transport vesicle membrane] (R-HSA-431741)	0.556	3
UniProt:Q15125 EBP	1	EBP [endoplasmic reticulum membrane] (R-HSA-195697)	0.556	3
UniProt:Q9BRI3 SLC30A2	2	SLC30A2 [endosome membrane] (R-HSA-435363) SLC30A2 [synaptic vesicle membrane] (R-HSA-4084714)	0.556	3
UniProt:Q6ZSS7 MFSD6			0.556	3
UniProt:Q9NR31 SAR1A			0.556	3
UniProt:O15552 FFAR2	1	FFAR2 [plasma membrane] (R-HSA-443944)	0.556	3
UniProt:Q5JX71 F209A			0.556	3
UniProt:Q96MV1 TLCD4			0.556	3
UniProt:Q9BX73 TM2D2			0.556	3
UniProt:Q96Q45-2 TMEM237			0.556	3
UniProt:O95279 KCNK5	1	KCNK5 [plasma membrane] (R-HSA-1296323)	0.556	3
UniProt:Q3SXY8 ARL13B	8	PolyUb-Misfolded ARL13B [lysosomal lumen] (R-HSA-9660004) PolyUb-Misfolded ARL13B [cytosol] (R-HSA-9641129) 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:P35414 APLNR	1	APLNR [plasma membrane] (R-HSA-374259)	0.556	3
UniProt:O00623 PEX12	2	PEX12 [cytosol] (R-HSA-9603782) PEX12 [peroxisomal membrane] (R-HSA-8953911)	0.556	3
UniProt:P34981 TRHR	1	TRHR [plasma membrane] (R-HSA-444556)	0.556	3
UniProt:Q8TAF8 LHFPL5	1	LHFPL5 [plasma membrane] (R-HSA-9658860)	0.556	3
UniProt:P08034 GJB1	2	GJB1 [endoplasmic reticulum membrane] (R-HSA-190656) GJB1 [endoplasmic reticulum-Golgi intermediate compartment] (R-HSA-190636)	0.556	3
UniProt:Q9Y282 ERGI3			0.556	3
UniProt:Q9NPL8 TIMMDC1	1	TIMMDC1 [mitochondrial inner membrane] (R-HSA-5689720)	0.556	3
UniProt:Q9Y320 TMX2			0.556	3
UniProt:P36382 GJA5	1	GJA5 [endoplasmic reticulum membrane] (R-HSA-190648)	0.556	3
UniProt:O15529 GPR42			0.556	3
UniProt:Q8WWF3 SSMM1			0.556	3
UniProt:Q96A25 T106A			0.556	3
UniProt:Q3SXP7 SHSL1			0.556	3
UniProt:Q8TDT2 GP152			0.556	3
UniProt:Q96DS6 M4A6E			0.556	3
UniProt:Q96CS7 PKHB2			0.556	3
UniProt:P48165 GJA8	1	GJA8 [endoplasmic reticulum membrane] (R-HSA-190702)	0.556	3
UniProt:Q7Z5P4 HSD17B13	1	HSD17B13 [cytosol] (R-HSA-8862029)	0.556	3
UniProt:Q86WK6 AMGO1			0.556	3
UniProt:Q0VAB0 Q0VAB0			0.556	3
IntAct:EBI-22326698 CCSB ORF ID			0.556	3

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