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CHRFAM7A

{{Short description|Protein-coding gene in humans}}

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{{Infobox_gene}}

CHRNA7-FAM7A fusion protein is a protein that in humans is encoded by the CHRFAM7A gene.{{cite journal | vauthors = Riley B, Williamson M, Collier D, Wilkie H, Makoff A | title = A 3-Mb map of a large Segmental duplication overlapping the alpha7-nicotinic acetylcholine receptor gene (CHRNA7) at human 15q13-q14 | journal = Genomics | volume = 79 | issue = 2 | pages = 197–209 |date=Feb 2002 | pmid = 11829490 | doi = 10.1006/geno.2002.6694 }}{{cite web | title = Entrez Gene: CHRFAM7A CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=89832}}

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.{{Cite journal|last1=Szafranski|first1=Przemyslaw|last2=Schaaf|first2=Christian P.|last3=Person|first3=Richard E.|last4=Gibson|first4=Ian B.|last5=Xia|first5=Zhilian|last6=Mahadevan|first6=Sangeetha|last7=Wiszniewska|first7=Joanna|last8=Bacino|first8=Carlos A.|last9=Lalani|first9=Seema|date=2010-07-01|title=Structures and Molecular Mechanisms for Common 15q13.3 Microduplications Involving CHRNA7: Benign or Pathological?|journal=Human Mutation|volume=31|issue=7|pages=840–850|doi=10.1002/humu.21284|issn=1059-7794|pmc=3162316|pmid=20506139}}

References

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External links

  • {{UCSC gene info|CHRFAM7A}}
  • {{UCSC gene info|CHRNA7}}

Further reading

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  • {{cite journal | author=Gault J |title=Genomic organization and partial duplication of the human alpha7 neuronal nicotinic acetylcholine receptor gene (CHRNA7) |journal=Genomics |volume=52 |issue= 2 |pages= 173–85 |year= 1998 |pmid= 9782083 |doi= 10.1006/geno.1998.5363 | author2=Robinson M | author3=Berger R | display-authors=3 | last4=Drebing | first4=Carla | last5=Logel | first5=Judith | last6=Hopkins | first6=Jan | last7=Moore | first7=Ted | last8=Jacobs | first8=Suzette | last9=Meriwether | first9=Jennifer }}
  • {{cite journal | author=Freedman R |title=Linkage disequilibrium for schizophrenia at the chromosome 15q13-14 locus of the alpha7-nicotinic acetylcholine receptor subunit gene (CHRNA7) |journal=Am. J. Med. Genet. |volume=105 |issue= 1 |pages= 20–2 |year= 2001 |pmid= 11424985 |doi=10.1002/1096-8628(20010108)105:1<20::AID-AJMG1047>3.0.CO;2-C | author2=Leonard S | author3=Gault JM | display-authors=3 | last4=Hopkins | first4=Jan | last5=Cloninger | first5=C. Robert | last6=Kaufmann | first6=Charles A. | last7=Tsuang | first7=Ming T. | last8=Farone | first8=Stephen V. | last9=Malaspina | first9=Dolores |s2cid=37412240 }}
  • {{cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 | author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD | bibcode=2002PNAS...9916899M |doi-access=free }}
  • {{cite journal | author=Trombino S |title=Alpha7-nicotinic acetylcholine receptors affect growth regulation of human mesothelioma cells: role of mitogen-activated protein kinase pathway |journal=Cancer Res. |volume=64 |issue= 1 |pages= 135–45 |year= 2004 |pmid= 14729617 |doi=10.1158/0008-5472.CAN-03-1672 | author2=Cesario A | author3=Margaritora S | display-authors=3 | last4=Granone | first4=P | last5=Motta | first5=G | last6=Falugi | first6=C | last7=Russo | first7=P | doi-access=free }}
  • {{cite journal | author=Gerhard DS |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 | author2=Wagner L | author3=Feingold EA | display-authors=3 | last4=Shenmen | first4=CM | last5=Grouse | first5=LH | last6=Schuler | first6=G | last7=Klein | first7=SL | last8=Old | first8=S | last9=Rasooly | first9=R }}
  • {{cite journal | author=Bale AS |title=Volatile organic compounds inhibit human and rat neuronal nicotinic acetylcholine receptors expressed in Xenopus oocytes |journal=Toxicol. Appl. Pharmacol. |volume=205 |issue= 1 |pages= 77–88 |year= 2005 |pmid= 15885267 |doi= 10.1016/j.taap.2004.09.011 | author2=Meacham CA | author3=Benignus VA | display-authors=3 | last4=Bushnell | first4=Philip J. | last5=Shafer | first5=Timothy J. |url=https://zenodo.org/record/1259373 }}
  • {{cite journal | author=Freedman R |title=Characterization of allelic variants at chromosome 15q14 in schizophrenia |journal=Genes, Brain and Behavior |volume=5 |pages= 14–22 |year= 2006 |pmid= 16417613 |doi= 10.1111/j.1601-183X.2006.00190.x | author2=Leonard S | author3=Waldo M | display-authors=3 | last4=Gault | first4=J. | last5=Olincy | first5=A. | last6=Adler | first6=L. E. |issue=Suppl 1 | doi-access=free}}
  • {{cite journal | author=Zody MC |title=Analysis of the DNA sequence and duplication history of human chromosome 15 |journal=Nature |volume=440 |issue= 7084 |pages= 671–5 |year= 2006 |pmid= 16572171 |doi= 10.1038/nature04601 | author2=Garber M | author3=Sharpe T | display-authors=3 | last4=Young | first4=Sarah K. | last5=Rowen | first5=Lee | last6=O'Neill | first6=Keith | last7=Whittaker | first7=Charles A. | last8=Kamal | first8=Michael | last9=Chang | first9=Jean L. |bibcode=2006Natur.440..671Z | doi-access=free }}
  • {{cite journal | author=Dempster EL |title=Episodic memory performance predicted by the 2bp deletion in exon 6 of the "alpha 7-like" nicotinic receptor subunit gene |journal=The American Journal of Psychiatry |volume=163 |issue= 10 |pages= 1832–4 |year= 2006 |pmid= 17012698 |doi= 10.1176/appi.ajp.163.10.1832 | author2=Toulopoulou T | author3=McDonald C | display-authors=3 | last4=Bramon | first4=E. | last5=Walshe | first5=M. | last6=Wickham | first6=H. | last7=Sham | first7=P. C. | last8=Murray | first8=R. M. | last9=Collier | first9=D. A. }}
  • {{cite journal | author=Martin LF |title=Sensory Gating and Alpha-7 Nicotinic Receptor Gene Allelic Variants in Schizoaffective Disorder, Bipolar Type |journal=Am. J. Med. Genet. B Neuropsychiatr. Genet. |volume=144 |issue= 5 |pages= 611–4 |year= 2007 |pmid= 17192894 |doi= 10.1002/ajmg.b.30470 | author2=Leonard S | author3=Hall MH | display-authors=3 | last4=Tregellas | first4=Jason R. | last5=Freedman | first5=Robert | last6=Olincy | first6=Ann | pmc=3123155 }}

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Category:Genes on human chromosome 15

Category:Human proteins

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