(Q15330556)

English

GJA1

protein-coding gene in humans

AVSD3
CMDR
CX43
EKVP
GJAL
HLHS1
HSS
ODDD
PPKCA
gap junction protein alpha 1
EKVP3

In more languages

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000152661

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000152661

Protein GJA1 PDB 1r5s.png
865 × 349; 61 KB

0 references

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000152661

Gap junction protein alpha 1

1 reference

6 July 2017

UniProt protein ID

genetic association

odontoonychodermal syndrome

2 references

UniProt protein ID

13 August 2019

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000152661/MONDO_0008111

based on heuristic

inferred from an Open Targets association score over 0.7

Hallermann-Streiff syndrome

1 reference

UniProt protein ID

13 August 2019

erythrokeratodermia variabilis et progressiva 3

1 reference

UniProt protein ID

13 August 2019

autosomal dominant palmoplantar keratoderma and congenital alopecia

2 references

UniProt protein ID

13 August 2019

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000152661/MONDO_0007083

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 6

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000152661

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000152661

121756838

human chromosome 6

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000152661

121435595

human chromosome 6

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000152661

121449727

human chromosome 6

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000152661

121770873

human chromosome 6

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000152661

cytogenetic location

6q22.31

1 reference

15 May 2022

136

1 reference

15 May 2022

Gene Atlas image

PBB GE GJA1 201667 at fs.png
732 × 530; 11 KB

0 references

1 reference

HomoloGene build68

136

1 reference

HomoloGene build68

136

1 reference

HomoloGene build68

136

external globus pallidus

1

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000152661

2

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000152661

parietal pleura

3

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000152661

4

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000152661

5

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000152661

Region I of hippocampus proper

6

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000152661

internal globus pallidus

7

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000152661

superior vestibular nucleus

8

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000152661

9

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000152661

seminal vesicula

10

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000152661

http://identifiers.org/ncbigene/2697

1 reference

Identifiers.org

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

Commons category

Connexin43

0 references

Identifiers

1 reference

15 May 2022

1 reference

15 May 2022

Ensembl gene ID

ENSG00000152661

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000152661

Ensembl transcript ID

ENST00000282561

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000152661

ENST00000649003

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000152661

ENST00000650427

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000152661

ENST00000647564

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000152661

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

imported from Wikimedia project

English Wikipedia

1 reference

based on heuristic

inferred by common HGNC mappings on source and on Wikidata

15 June 2023

Sitelinks

Wikipedia(8 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(1 entry)

commonswiki Category:Connexin43

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