GJD2

Protein-coding gene in the species Homo sapiens
GJD2
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2N6A

Identifiers
AliasesGJD2, CX36, GJA9, gap junction protein delta 2
External IDsOMIM: 607058; MGI: 1334209; HomoloGene: 7734; GeneCards: GJD2; OMA:GJD2 - orthologs
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]
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)[2]
Chromosome 2 (mouse)
Genomic location for GJD2
Genomic location for GJD2
Band2|2 E4Start113,840,082 bp[2]
End113,844,100 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • islet of Langerhans

  • gonad

  • pituitary gland

  • anterior pituitary

  • prefrontal cortex

  • right auricle

  • body of pancreas

  • occipital lobe

  • dorsolateral prefrontal cortex

  • Brodmann area 9
Top expressed in
  • thoracic ganglia

  • islet of Langerhans

  • stellate ganglion

  • anterior horn of spinal cord

  • facial motor nucleus

  • pineal gland

  • olfactory bulb

  • retinal pigment epithelium

  • cerebellar cortex

  • sexually immature organism
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • gap junction channel activity
Cellular component
  • integral component of membrane
  • gap junction
  • cell junction
  • plasma membrane
  • connexin complex
  • membrane
Biological process
  • action potential
  • cell communication
  • cell-cell signaling
  • visual perception
  • chemical synaptic transmission
  • transmembrane transport
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

57369

14617

Ensembl

ENSG00000159248

ENSMUSG00000068615

UniProt

Q9UKL4

O54851

RefSeq (mRNA)

NM_020660

NM_010290

RefSeq (protein)

NP_065711

NP_034420

Location (UCSC)Chr 15: 34.75 – 34.75 MbChr 2: 113.84 – 113.84 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

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

  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:". 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. ^ 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. S2CID 496510.
  6. ^ a b "Entrez Gene: GJA9 gap junction protein, alpha 9, 36kDa".

Further reading

  • Andrew L Harris; Darren Locke (2009). Connexins, A Guide. New York: Springer. p. 574. ISBN 978-1-934115-46-6.
  • de Brouwer AP, Pennings RJ, Roeters M, et al. (2003). "Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family". Hum. Genet. 112 (2): 156–63. doi:10.1007/s00439-002-0833-0. PMID 12522556. S2CID 310717.
  • Martin D, Tawadros T, Meylan L, et al. (2004). "Critical role of the transcriptional repressor neuron-restrictive silencer factor in the specific control of connexin36 in insulin-producing cell lines". J. Biol. Chem. 278 (52): 53082–9. doi:10.1074/jbc.M306861200. PMID 14565956.
  • Bathelier C, François M, Lucotte G (2004). "Neonatal detection of the 35delG mutation of the GJB2 gene in families at risk for deafness". Genet. Couns. 15 (1): 61–6. PMID 15083701.
  • Degen J, Meier C, Van Der Giessen RS, et al. (2004). "Expression pattern of lacZ reporter gene representing connexin36 in transgenic mice". J. Comp. Neurol. 473 (4): 511–25. doi:10.1002/cne.20085. PMID 15116387. S2CID 10347889.
  • Mas C, Taske N, Deutsch S, et al. (2004). "Association of the connexin36 gene with juvenile myoclonic epilepsy". J. Med. Genet. 41 (7): e93. doi:10.1136/jmg.2003.017954. PMC 1735851. PMID 15235036.
  • Dobrenis K, Chang HY, Pina-Benabou MH, et al. (2006). "Human and mouse microglia express connexin36, and functional gap junctions are formed between rodent microglia and neurons". J. Neurosci. Res. 82 (3): 306–15. doi:10.1002/jnr.20650. PMC 2583240. PMID 16211561.
  • Hempelmann A, Heils A, Sander T (2006). "Confirmatory evidence for an association of the connexin-36 gene with juvenile myoclonic epilepsy". Epilepsy Res. 71 (2–3): 223–8. doi:10.1016/j.eplepsyres.2006.06.021. PMID 16876983. S2CID 21966870.
  • Aleksic B, Ishihara R, Takahashi N, et al. (2007). "Gap junction coding genes and schizophrenia: a genetic association study". J. Hum. Genet. 52 (6): 498–501. doi:10.1007/s10038-007-0142-5. PMID 17427027.

External links

  • Overview of all the structural information available in the PDB for UniProt: Q9UKL4 (Gap junction delta-2 protein) at the PDBe-KB.
  • v
  • t
  • e
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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