GJD4

Protein-coding gene in the species Homo sapiens
GJD4
Identifiers
AliasesGJD4, CX40.1, gap junction protein delta 4
External IDsOMIM: 611922 MGI: 2444990 HomoloGene: 17692 GeneCards: GJD4
Gene location (Human)
Chromosome 10 (human)
Chr.Chromosome 10 (human)[1]
Chromosome 10 (human)
Genomic location for GJD4
Genomic location for GJD4
Band10p11.21Start35,605,341 bp[1]
End35,608,935 bp[1]
Gene location (Mouse)
Chromosome 18 (mouse)
Chr.Chromosome 18 (mouse)[2]
Chromosome 18 (mouse)
Genomic location for GJD4
Genomic location for GJD4
Band18|18 A1Start9,278,607 bp[2]
End9,282,809 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • prefrontal cortex

  • ventricle

  • left ventricle

  • human musculoskeletal system

  • dorsolateral prefrontal cortex

  • Brodmann area 9

  • muscular system

  • muscle

  • 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
BioGPS
n/a
Orthologs
SpeciesHumanMouse
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 MbChr 18: 9.28 – 9.28 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000177291 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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.


  • v
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Ligand-gated
Voltage-gated
Constitutively active
Proton-gated
Voltage-gated
Calcium-activated
Inward-rectifier
Tandem pore domain
Voltage-gated
Miscellaneous
Cl: Chloride channel
H+: Proton channel
M+: CNG cation channel
M+: TRP cation channel
H2O (+ solutes): Porin
Cytoplasm: Gap junction
By gating mechanism
Ion channel class
see also disorders


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