GJD2

GJD2
Available structures PDB Ortholog search:PDBeRCSB List of PDB id codes 2N6A
Identifiers
Aliases	GJD2,CX36, GJA9, gap junction protein delta 2
External IDs	OMIM:607058;MGI:1334209;HomoloGene:7734;GeneCards:GJD2;OMA:GJD2 - orthologs
Gene location (Human) Chr. Chromosome 15 (human) Band 15q14 Start 34,751,032bp End 34,754,998bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 E4 Start 113,840,082bp End 113,844,100bp
RNA expressionpattern Bgee Human Mouse(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 neural layer of retina lumbar subsegment of spinal cord stellate ganglion anterior horn of spinal cord facial motor nucleus pineal gland olfactory bulb retinal pigment epithelium 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 Species Human Mouse 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 Mb Chr 2: 113.84 – 113.84 Mb PubMedsearch
Wikidata
View/Edit Human View/Edit Mouse

Gap junction delta-2 protein(GJD2), also known asconnexin-36(Cx36) orgap junction Alpha -9 protein(GJA9), is aproteinthat in humans is encoded by theGJD2gene.

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. SeeGJB2for additional background information on connexins.

Further reading

• Andrew L Harris; Darren Locke (2009).Connexins, A Guide.New York: Springer. p. 574.ISBN978-1-934115-46-6.
• 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.PMID12522556.S2CID310717.
• 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.PMID14565956.
• 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.PMID15083701.
• 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.PMID15116387.S2CID10347889.
• 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.PMC1735851.PMID15235036.
• 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.PMC2583240.PMID16211561.
• 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.PMID16876983.S2CID21966870.
• 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.PMID17427027.

External links

• Overview of all the structural information available in thePDBforUniProt:Q9UKL4(Gap junction delta-2 protein) at thePDBe-KB.