(Q18025996)

English

GJB2

protein-coding gene in the species Homo sapiens

CX26
DFNA3
DFNA3A
DFNB1
DFNB1A
HID
KID
NSRD1
PPK
gap junction protein beta 2
BAPS

In more languages

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000165474

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000165474

Protein GJB2 PDB 1XIR.png
1,200 × 1,000; 67 KB

0 references

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000165474

Gap junction protein beta 2

1 reference

6 July 2017

UniProt protein ID

genetic association

autosomal dominant nonsyndromic deafness 3A

1 reference

UniProt protein ID

13 August 2019

Vohwinkel syndrome

2 references

UniProt protein ID

13 August 2019

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000165474/MONDO_0007422

based on heuristic

inferred from an Open Targets association score over 0.7

palmoplantar keratoderma-deafness syndrome

2 references

UniProt protein ID

13 August 2019

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000165474/MONDO_0007852

based on heuristic

inferred from an Open Targets association score over 0.7

syndromic genetic deafness

2 references

8 December 2020

https://search.clinicalgenome.org/kb/gene-validity/9d7b8505-4def-4b99-a8a2-853c07e9969e--2018-06-26T16:00:00

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9d7b8505-4def-4b99-a8a2-853c07e9969e-2018-06-26T160000.000Z

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000165474/EFO_0004238

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 13

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000165474

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000165474

20761609

human chromosome 13

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000165474

20187463

human chromosome 13

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000165474

20767037

human chromosome 13

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000165474

20192938

human chromosome 13

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000165474

cytogenetic location

13q12.11

1 reference

15 May 2022

2975

1 reference

15 May 2022

2 references

HomoloGene build68

2975

Orthologous MAtrix

https://omabrowser.org/oma/vps/P29033/

2 references

HomoloGene build68

2975

Orthologous MAtrix

https://omabrowser.org/oma/vps/P29033/

1 reference

Orthologous MAtrix

https://omabrowser.org/oma/vps/P29033/

gingival epithelium

1

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000165474

2

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000165474

mucosa of pharynx

3

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000165474

4

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000165474

5

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000165474

6

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000165474

7

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000165474

8

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000165474

pancreatic ductal cell

9

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000165474

skin of abdomen

10

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000165474

http://identifiers.org/ncbigene/2706

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Identifiers

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

Ensembl gene ID

ENSG00000165474

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000165474

Ensembl transcript ID

ENST00000382848

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000165474

ENST00000382844

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000165474

0 references

HGNC gene symbol

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

based on heuristic

inferred by common HGNC mappings on source and on Wikidata

15 June 2023

Sitelinks

Wikipedia(9 entries)

arwiki GJB2
arzwiki GJB2
bswiki GJB2
enwiki GJB2
eswiki GJB2
fawiki GJB2
frwiki Connexine 26
nlwiki Connexine-26-mutatie
ukwiki GJB2

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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