Reactome | GJB6 [endoplasmic reticulum membrane]

GJB6 [endoplasmic reticulum membrane]

Stable Identifier

R-HSA-190633

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

endoplasmic reticulum membrane

Synonyms

Connexin 30, Gap junction beta-6 protein (Connexin 30) (Cx30), Gap junction beta-6 protein, Cx30

Locations in the PathwayBrowser

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)
        
        Connexin synthesis (generic) (Homo sapiens)
        
        Monomeric connexin protein [endoplasmic reticulum membrane] (Homo sapiens)
        
        GJB6 [endoplasmic reticulum membrane] (Homo sapiens)

External Reference Information

External Reference

UniProt:O95452 GJB6

Gene Names

GJB6

Chain

chain:1-261

Reference Genes

BioGPS Gene:10804 GJB6

COSMIC (genes):GJB6 GJB6

CTD Gene:10804 GJB6

dbSNP Gene:10804 GJB6

ENSEMBL:ENSG00000121742 GJB6

ENSEMBL_homo_sapiens_GENE:ENSG00000121742.19 GJB6

HGNC:4288 GJB6

KEGG Gene (Homo sapiens):10804 GJB6

Monarch:10804 GJB6

NCBI Gene:10804 GJB6

OMIM:604418 GJB6

UCSC:O95452 GJB6

Reference Transcript

Other Identifiers

10804

11730481_a_at

11733921_a_at

11733922_s_at

16777190

231771_PM_at

231771_at

3504214

3504215

3504216

3504217

3504218

3504219

3504220

3504221

3504222

3504223

60587_at

7970448

A_23_P2745

GE81679

GE88282

GO:0003163

GO:0005215

GO:0005243

GO:0005515

GO:0005856

GO:0005884

GO:0005886

GO:0005921

GO:0005922

GO:0007154

GO:0007267

GO:0007605

GO:0008017

GO:0008092

GO:0008285

GO:0010644

GO:0016020

GO:0016264

GO:0016324

GO:0023052

GO:0030054

GO:0032496

GO:0034330

GO:0035633

GO:0042471

GO:0043226

GO:0048487

GO:0048839

GO:0048856

GO:0050877

GO:0051015

GO:0051602

GO:0055085

GO:0070161

GO:0071333

GO:1903763

GO:1990349

HMNXSV003051226

Hs.48956.0.S2_3p_at

ILMN_1718671

ILMN_2226223

PH_hs_0003422

TC13000457.hg

TC13001343.hg

Participates

as a candidate of

Monomeric connexin protein [endoplasmic reticulum membrane] (Homo sapiens)

Inferred To

Homologues of GJB6 [endoplasmic reticulum membrane] (Gallus gallus)

CXNF [endoplasmic reticulum membrane] (Canis familiaris)

GJB2 [endoplasmic reticulum membrane] (Gallus gallus)

GJB6 [endoplasmic reticulum membrane] (Bos taurus)

GJB6 [endoplasmic reticulum membrane] (Gallus gallus)

GJB6 [endoplasmic reticulum membrane] (Sus scrofa)

Gjb6 [endoplasmic reticulum membrane] (Mus musculus)

Gjb6 [endoplasmic reticulum membrane] (Rattus norvegicus)

gjb2 [endoplasmic reticulum membrane] (Xenopus tropicalis)

Cross References

RefSeq

XP_016875846.1, NP_001103690.1, NP_001103691.1, XP_016875848.1, NP_001103689.1, XP_016875847.1, NP_006774.2, XP_016875849.1

Guide to Pharmacology - Targets

717

OpenTargets

ENSG00000121742

GeneCards

O95452

HPA

ENSG00000121742-GJB6

Ensembl

ENSP00000382938, ENST00000643211, ENST00000636852, ENST00000400065, ENST00000643121, ENST00000644667, ENSP00000494468, ENSP00000493834, ENSP00000382939, ENSP00000494733, ENSP00000241124, ENST00000647243, ENSP00000495320, ENSP00000495841, ENST00000400066, ENST00000644283, ENSP00000489698, ENST00000241124, ENSP00000493621, ENST00000647029, ENSG00000121742

PRO

O95452

Pharos - Targets

O95452

Orphanet

16133

Interactors (4)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:O75396 SEC22B	6	SEC22B [endoplasmic reticulum membrane] (R-HSA-5688150) SEC22B [endoplasmic reticulum-Golgi intermediate compartment membrane] (R-HSA-5688566) SEC22B [ER to Golgi transport vesicle membrane] (R-HSA-5688565) SEC22B [phagocytic vesicle membrane] (R-HSA-8863938) SEC22B [transport vesicle] (R-HSA-6810994) SEC22B [Golgi membrane] (R-HSA-6810993)	0.556	3
UniProt:Q15125 EBP	1	EBP [endoplasmic reticulum membrane] (R-HSA-195697)	0.556	3
UniProt:P26715 KLRC1	1	KLRC1 [plasma membrane] (R-HSA-3006545)	0.556	3
UniProt:Q3KNW5 SLC10A6	1	SLC10A6 [plasma membrane] (R-HSA-433091)	0.556	3

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