GJA9

From Wikipedia, the free encyclopedia

Gap junction protein, alpha 9, 36kDa

Identifiers

GJA9; CX36; MGC138315; MGC138319

External IDs

OMIM: 607058 MGI: 1334209 HomoloGene: 7734

Gene ontology
Molecular Function:	• gap-junction channel activity
Cellular Component:	• connexon complex • membrane • integral to membrane
Biological Process:	• synaptic transmission • visual perception

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_020660 (mRNA)
NP_065711 (protein)

NM_010290 (mRNA)
NP_034420 (protein)

Location

Chr 15: 32.83 - 32.83 Mb

Chr 2: 113.7 - 113.71 Mb

Pubmed search

[1]

[2]

Gap junction protein, alpha 9, 36kDa, also known as GJA9, is a human gene.^[1]

GJA9, 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 (MIM 121011) for additional background information on connexins.[supplied by OMIM]^[1]

[edit] References

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

[edit] Further reading

Belluardo N, Trovato-Salinaro A, Mudò G, et al. (1999). "Structure, chromosomal localization, and brain expression of human Cx36 gene.". J. Neurosci. Res. 57 (5): 740–52. PMID 10462698.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
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.
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.
Mas C, Taske N, Deutsch S, et al. (2004). "Association of the connexin36 gene with juvenile myoclonic epilepsy.". J. Med. Genet. 41 (7): e93. PMID 15235036.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
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. 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.
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.