CHRFAM7A

VALUE_ERROR (nil)
Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
View/Edit Human

CHRNA7-FAM7A fusion protein is a protein that in humans is encoded by the CHRFAM7A gene.

The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The family member CHRNA7, which is located on chromosome 15 in a region associated with several neuropsychiatric disorders, is partially duplicated and forms a hybrid with a novel gene from the family with sequence similarity 7 (FAM7A). Alternative splicing has been observed, and two variants exist, for this hybrid gene. The N-terminally truncated products predicted by the largest open reading frames for each variant would lack the majority of the neurotransmitter-gated ion-channel ligand binding domain but retain the transmembrane region that forms the ion channel. Although current evidence supports transcription of this hybrid gene, translation of the nicotinic acetylcholine receptor-like protein-encoding open reading frames has not been confirmed. CHRFAM7A has not been found in nonhuman primates, and its occurrence in individuals of African descent is significantly lower than in Caucasian populations.

External links

• Human CHRFAM7A genome location and CHRFAM7A gene details page in the UCSC Genome Browser.
• Human CHRNA7 genome location and CHRNA7 gene details page in the UCSC Genome Browser.

Further reading

• Gault J, Robinson M, Berger R, et al. (1998). "Genomic organization and partial duplication of the human alpha7 neuronal nicotinic acetylcholine receptor gene (CHRNA7)". Genomics. 52 (2): 173–85. doi:10.1006/geno.1998.5363. PMID 9782083.
• Freedman R, Leonard S, Gault JM, et al. (2001). "Linkage disequilibrium for schizophrenia at the chromosome 15q13-14 locus of the alpha7-nicotinic acetylcholine receptor subunit gene (CHRNA7)". Am. J. Med. Genet. 105 (1): 20–2. doi:10.1002/1096-8628(20010108)105:1<20::AID-AJMG1047>3.0.CO;2-C. PMID 11424985.
• 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. PMC 139241. PMID 12477932.
• Trombino S, Cesario A, Margaritora S, et al. (2004). "Alpha7-nicotinic acetylcholine receptors affect growth regulation of human mesothelioma cells: role of mitogen-activated protein kinase pathway". Cancer Res. 64 (1): 135–45. doi:10.1158/0008-5472.CAN-03-1672. PMID 14729617.
• 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. PMC 528928. PMID 15489334.
• Bale AS, Meacham CA, Benignus VA, et al. (2005). "Volatile organic compounds inhibit human and rat neuronal nicotinic acetylcholine receptors expressed in Xenopus oocytes". Toxicol. Appl. Pharmacol. 205 (1): 77–88. doi:10.1016/j.taap.2004.09.011. PMID 15885267.
• Freedman R, Leonard S, Waldo M, et al. (2006). "Characterization of allelic variants at chromosome 15q14 in schizophrenia". Genes, Brain and Behavior. 5 Suppl 1: 14–22. doi:10.1111/j.1601-183X.2006.00190.x. PMID 16417613.
• Zody MC, Garber M, Sharpe T, et al. (2006). "Analysis of the DNA sequence and duplication history of human chromosome 15". Nature. 440 (7084): 671–5. doi:10.1038/nature04601. PMID 16572171.
• Dempster EL, Toulopoulou T, McDonald C, et al. (2006). "Episodic memory performance predicted by the 2bp deletion in exon 6 of the "alpha 7-like" nicotinic receptor subunit gene". The American Journal of Psychiatry. 163 (10): 1832–4. doi:10.1176/appi.ajp.163.10.1832. PMID 17012698.
• Martin LF, Leonard S, Hall MH, et al. (2007). "Sensory Gating and Alpha-7 Nicotinic Receptor Gene Allelic Variants in Schizoaffective Disorder, Bipolar Type". Am. J. Med. Genet. B Neuropsychiatr. Genet. 144 (5): 611–4. doi:10.1002/ajmg.b.30470. PMC 3123155. PMID 17192894.