(Q18025986)

English

GJB1

protein-coding gene in the species Homo sapiens

CMTX
CMTX1
CX32
gap junction protein beta 1

In more languages

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000169562

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000169562

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000169562

Gap junction protein beta 1

1 reference

6 July 2017

UniProt protein ID

genetic association

Charcot–Marie–Tooth disease

0 references

Charcot-Marie-Tooth disease X-linked dominant 1

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000169562/Orphanet_101075

based on heuristic

inferred from an Open Targets association score over 0.7

human X chromosome

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000169562

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000169562

70435044

human X chromosome

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000169562

71212811

human X chromosome

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000169562

70445366

human X chromosome

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000169562

71225516

human X chromosome

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000169562

cytogenetic location

Xq13.1

1 reference

15 May 2022

137

1 reference

15 May 2022

Gene Atlas image

PBB GE GJB1 204973 at fs.png
732 × 530; 11 KB

0 references

1 reference

HomoloGene build68

137

1 reference

HomoloGene build68

137

1 reference

HomoloGene build68

137

right lobe of liver

1

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000169562

body of pancreas

2

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000169562

inferior ganglion of vagus nerve

3

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000169562

4

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000169562

5

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000169562

subthalamic nucleus

6

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000169562

substantia nigra

7

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000169562

inferior olivary nucleus

8

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000169562

9

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000169562

10

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000169562

http://identifiers.org/ncbigene/2705

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

1 reference

15 May 2022

Ensembl gene ID

ENSG00000169562

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000169562

Ensembl transcript ID

ENST00000447581

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000169562

ENST00000361726

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000169562

ENST00000374029

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000169562

ENST00000645009

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000169562

ENST00000647424

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000169562

ENST00000646835

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000169562

ENST00000675609

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000169562

ENST00000674844

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000169562

ENST00000674549

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000169562

ENST00000675368

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000169562

ENST00000675209

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000169562

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

26 January 2022

https://docs.openalex.org/download-snapshot/snapshot-data-format

1 reference

based on heuristic

inferred by common HGNC mappings on source and on Wikidata

15 June 2023

Sitelinks

Wikipedia(3 entries)

bswiki GJB1
enwiki GJB1
ukwiki GJB1

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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