GJD2

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search
GJD2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesGJD2, CX36, GJA9, gap junction protein delta 2
External IDsOMIM: 607058 MGI: 1334209 HomoloGene: 7734 GeneCards: GJD2
Gene location (Human)
Chromosome 15 (human)
Chr.Chromosome 15 (human)[1]
Chromosome 15 (human)
Genomic location for GJD2
Genomic location for GJD2
Band15q14Start34,751,032 bp[1]
End34,754,998 bp[1]
RNA expression pattern
PBB GE GJA9 221407 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_020660

NM_010290

RefSeq (protein)

NP_065711

NP_034420

Location (UCSC)Chr 15: 34.75 – 34.75 MbChr 2: 114.01 – 114.01 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5][6]

Function[edit]

GJD2, also called connexin-36 (CX36), is a member of the connexin gene family that is expressed predominantly in mammalian neurons. Connexins associate in groups of 6 and are organized radially around a central pore to form connexons. Each gap junction intercellular channel is formed by the conjunction of 2 connexons. See GJB2 for additional background information on connexins.[6]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000159248 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000068615 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ Belluardo N, Trovato-Salinaro A, Mudo G, Hurd YL, Condorelli DF (Oct 1999). "Structure, chromosomal localization, and brain expression of human Cx36 gene". J Neurosci Res. 57 (5): 740–52. doi:10.1002/(SICI)1097-4547(19990901)57:5<740::AID-JNR16>3.0.CO;2-Z. PMID 10462698.
  6. ^ a b "Entrez Gene: GJA9 gap junction protein, alpha 9, 36kDa".

Further reading[edit]