GJD4

GJD4
Identifiers
Aliases	GJD4 , CX40.1, gap junction protein delta 4
External IDs	OMIM: 611922 MGI: 2444990 HomoloGene: 17692 GeneCards: GJD4
Gene location (Human)
Chr.	Chromosome 10 (human)
End	35,608,935 bp
Gene location (Mouse)
Chr.	Chromosome 18 (mouse)
End	9,282,809 bp
RNA expression pattern
	Top expressed in
	prefrontal cortex; ; ventricle; ; left ventricle; ; human musculoskeletal system; ; dorsolateral prefrontal cortex; ; Brodmann area 9; ; muscular system; ; muscle organ; ; zone of skin; ; skin of limb;
	Top expressed in
	thoracic diaphragm; ; neural tube; ; autopod region; ; foot; ; hand; ; foregut; ; stomach; ; upper arm; ; thigh;
	More reference expression data
	n/a
Orthologs
	219770
	225152
	ENSG00000177291
	ENSMUSG00000036855
	Q96KN9
	Q8BSD4
	NM_153368
	NM_153086
	NP_699199
	NP_694726
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated October 18, 2022

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.^[5]

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.^[5]^[6]

Related Research Articles

Gap junction alpha-1 protein (GJA1), also known as connexin 43 (Cx43), is a protein that in humans is encoded by the GJA1 gene on chromosome 6. As a connexin, GJA1 is a component of gap junctions, which allow for gap junction intercellular communication (GJIC) between cells to regulate cell death, proliferation, and differentiation. As a result of its function, GJA1 is implicated in many biological processes, including muscle contraction, embryonic development, inflammation, and spermatogenesis, as well as diseases, including oculodentodigital dysplasia (ODDD), heart malformations, and cancers.

Gap junction beta-2 protein (GJB2), also known as connexin 26 (Cx26) — is a protein that in humans is encoded by the GJB2 gene.

Gap junction beta-1 protein (GJB1), also known as connexin 32 (Cx32) is a transmembrane protein that in humans is encoded by the GJB1 gene. Gap junction beta-1 protein is a member of the gap junction connexin family of proteins that regulates and controls the transfer of communication signals across cell membranes, primarily in the liver and peripheral nervous system.

Gap junction alpha-5 protein (GJA5), also known as connexin 40 (Cx40) — is a protein that in humans is encoded by the GJA5 gene.

Gap junction beta-6 protein (GJB6), also known as connexin 30 (Cx30) — is a protein that in humans is encoded by the GJB6 gene. Connexin 30 (Cx30) is one of several gap junction proteins expressed in the inner ear. Mutations in gap junction genes have been found to lead to both syndromic and nonsyndromic deafness. Mutations in this gene are associated with Clouston syndrome.

Gap junction beta-3 protein (GJB3), also known as connexin 31 (Cx31) — is a protein that in humans is encoded by the GJB3 gene.

Gap junction alpha-4 protein, also known as Connexin-37 or Cx37, is a protein that in humans is encoded by the GJA4 gene. This protein, like other Connexin proteins, forms connections between cells known as gap junctions. Connexin 37 can be found in many tissues including the ovary, heart, and kidney.

Gap junction alpha-3 protein is a protein that in humans is encoded by the GJA3 gene.

Gap junction gamma-1 protein (GJC1), also known as gap junction alpha-7 protein (GJA7) and connexin 45 (Cx45) — is a protein that in humans is encoded by the GJC1 gene.

Gap junction alpha-8 protein is a protein that in humans is encoded by the GJA8 gene. It is also known as connexin 50.

Gap junction beta-4 protein (GJB4), also known as connexin 30.3 (Cx30.3) — is a protein that in humans is encoded by the GJB4 gene.

Tight junction protein ZO-3 is a protein that in humans is encoded by the TJP3 gene.

Gap junction delta-2 (GJD2), also known as connexin-36 (Cx36) or gap junction alpha-9 (GJA9), is a protein that in humans is encoded by the GJD2 gene.

Gap junction delta-2 protein (GJD2) also known as connexin-36 (Cx36) or gap junction alpha-9 protein (GJA9) is a protein that in humans is encoded by the GJD2 gene.

Gap junction gamma-3, also known as connexin-29 (Cx29) or gap junction epsilon-1 (GJE1), is a protein that in humans is encoded by the GJC3 gene.

Gap junction gamma-2 (GJC2), also known as connexin-46.6 (Cx46.6) and connexin-47 (Cx47) and gap junction alpha-12 (GJA12), is a protein that in humans is encoded by the GJC2 gene.

Gap junction beta-7 protein (GJB7), also known as connexin-25 (Cx25), is a protein that in humans is encoded by the GJB7 gene.

Gap junction beta-5 protein (GJB5), also known as connexin-31.1 (Cx31.1), is a protein that in humans is encoded by the GJB5 gene.

Gap junction alpha-10 protein, also known as connexin-62 (Cx62), is a protein that in humans is encoded by the GJA10 gene.

Junctophilin 4 is a protein in humans that is encoded by the JPH4 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000177291 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000036855 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 "Entrez Gene: gap junction protein".
↑ 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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000177291 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] 1 2 "Entrez Gene: gap junction protein".

[pmid12881038-6] 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.

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