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GJD4
Identifiers
Aliases	GJD4, CX40.1, gap junction protein delta 4
External IDs	OMIM: 611922; MGI: 2444990; HomoloGene: 17692; GeneCards: GJD4; OMA:GJD4 - orthologs
Gene location (Human) Chr. Chromosome 10 (human) Band 10p11.21 Start 35,605,341 bp End 35,608,935 bp
Gene location (Mouse) Chr. Chromosome 18 (mouse) Band 18|18 A1 Start 9,278,607 bp End 9,282,809 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gonad apex of heart prefrontal cortex ventricle of the heart left ventricle human musculoskeletal system dorsolateral prefrontal cortex Brodmann area 9 muscular system muscle Top expressed in tongue muscle muscle of trunk thoracic diaphragm neural tube autopod region paraxial mesoderm foot hand foregut muscle of upper limb More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 219770 225152 Ensembl ENSG00000177291 ENSMUSG00000036855 UniProt Q96KN9 Q8BSD4 RefSeq (mRNA) NM_153368 NM_153086 RefSeq (protein) NP_699199 NP_694726 Location (UCSC) Chr 10: 35.61 – 35.61 Mb Chr 18: 9.28 – 9.28 Mb PubMed search
Wikidata
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Gap junction delta-4 protein (GJD4), also known as connexin-40.1 (Cx40.1), is a protein that in humans is encoded by the GJD4 gene.

Function

Connexins, such as GJD4, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000177291 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000036855 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ "Entrez Gene: gap junction protein".
6. Söhl G, Nielsen PA, Eiberger J, Willecke K (2003). "Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues". Cell Commun. Adhes. 10 (1): 27–36. doi:10.1080/15419060302063. PMID 12881038. S2CID 225894.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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• Connexins