CHRFAM7A

CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion
Available structures PDB Human UniProt search: PDBe, RCSB List of PDB id codes 2MAW​
Identifiers
Symbols	CHRFAM7A ; CHRNA7; CHRNA7-DR1; D-10
External IDs	OMIM: 609756 GeneCards: CHRFAM7A Gene
Gene ontology Molecular function • acetylcholine-activated cation-selective channel activity • acetylcholine receptor activity • acetylcholine binding Cellular component • acetylcholine-gated channel complex • neuron projection • synapse Biological process • signal transduction • synaptic transmission, cholinergic • regulation of membrane potential • neurological system process • cation transmembrane transport Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	89832	n/a
Ensembl	ENSG00000166664	n/a
UniProt	P36544	n/a
RefSeq (mRNA)	NM_139320	n/a
RefSeq (protein)	NP_647536	n/a
Location (UCSC)	Chr 15: 30.36 – 30.39 Mb	n/a
PubMed search		n/a

CHRNA7-FAM7A fusion protein is a protein that in humans is encoded by the CHRFAM7A gene.^[1][2]

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.^[2] CHRFAM7A has not been found in nonhuman primates, and its occurrence in individuals of African descent is significantly lower than in Caucasian populations.^[3]

References

1. Riley B, Williamson M, Collier D, Wilkie H, Makoff A (Feb 2002). "A 3-Mb map of a large Segmental duplication overlapping the alpha7-nicotinic acetylcholine receptor gene (CHRNA7) at human 15q13-q14". Genomics 79 (2): 197–209. doi:10.1006/geno.2002.6694. PMID 11829490.
2. "Entrez Gene: CHRFAM7A CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion".
3. Szafranski, Przemyslaw; Schaaf, Christian P.; Person, Richard E.; Gibson, Ian B.; Xia, Zhilian; Mahadevan, Sangeetha; Wiszniewska, Joanna; Bacino, Carlos A.; Lalani, Seema (2010-07-01). "Structures and Molecular Mechanisms for Common 15q13.3 Microduplications Involving CHRNA7: Benign or Pathological?". Human mutation 31 (7): 840–850. doi:10.1002/humu.21284. ISSN 1059-7794. PMC 3162316. PMID 20506139.

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.