Property Summary

NCBI Gene PubMed Count 26
Grant Count 96
R01 Count 23
Funding $44,193,682.06
PubMed Score 84.14
PubTator Score 11.50

Knowledge Summary

Patent (6,150)

Expression

Synonym

Accession P36544 A8K7Q4 B4DFS0 Q15826 Q8IUZ4 Q96RH2 Q99555 Q9BXH0
Symbols D-10
CHRNA7
CHRNA7-DR1

Gene

PDB

2MAW   5AFH   5AFJ   5AFK   5AFL   5AFM   5AFN  

Gene RIF (24)

PMID Text
26206074 Data show preferential fetal CHRFAM7A expression in the human prefrontal cortex and suggest abnormalities in the CHRFAM7A/CHRNA7 ratios in schizophrenia and bipolar disorder, due mainly to overexpression of CHRFAM7A.
25681457 Data show that a 1 kb sequence in the untranslated regions of the alpha7-nicotinic acetylcholine receptor (alpha7nAChR) gene CHRFAM7A that is modulated by lipopolysaccharides (LPS).
25473097 CHRFAM7A, a human-specific and partially duplicated alpha7-nicotinic acetylcholine receptor gene with the potential to specify a human-specific inflammatory response to injury.
24787912 This association study was replicated in the NIA-LOAD Familial Study dataset. CHRFAM7A is a dominant negative regulator of CHRNA7 function, the receptor that facilitates amyloid-beta1-42 internalization through endocytosis and has been implicated in AD.
24024466 the involvement of CHRFAM7A in the pathophysiology of the idiopathic generalized epilepsy and indication that c.497-498TG deletion or a nearby polymorphism in the CHRFAM7A gene may play a role in the pathogenesis of this disease
23553139 lack of CHRFAM7A expression in ADNFLE patients might be an important factor in the pathogenesis of autosomal dominant nocturnal frontal lobe epilepsy
22300029 evidence on the association between variations in CHRNA7 or CHRFAM7A and the risk of dementia is still sparse and inconclusive. Further studies are needed to establish whether some polymorphisms may affect the probability of developing dementia [review]
20926142 the partially duplicated alpha7 nAChR subunit gene may specifically participate in the inflammatory response of the innate immune system.
20351714 Observational study of gene-disease association. (HuGE Navigator)
19641318 polymorphism of CHRFAM7A can be implicated in Alzheimer's disease, dementia with Lewy bodies and Pick's disease
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AA Sequence

MRCSPGGVWLALAASLLHVSLQGEFQRKLYKELVKNYNPLERPVANDSQPLTVYFSLSLLQIMDVDEKNQ      1 - 70
VLTTNIWLQMSWTDHYLQWNVSEYPGVKTVRFPDGQIWKPDILLYNSADERFDATFHTNVLVNSSGHCQY     71 - 140
LPPGIFKSSCYIDVRWFPFDVQHCKLKFGSWSYGGWSLDLQMQEADISGYIPNGEWDLVGIPGKRSERFY    141 - 210
ECCKEPYPDVTFTVTMRRRTLYYGLNLLIPCVLISALALLVFLLPADSGEKISLGITVLLSLTVFMLLVA    211 - 280
EIMPATSDSVPLIAQYFASTMIIVGLSVVVTVIVLQYHHHDPDGGKMPKWTRVILLNWCAWFLRMKRPGE    281 - 350
DKVRPACQHKQRRCSLASVEMSAVAPPPASNGNLLYIGFRGLDGVHCVPTPDSGVVCGRMACSPTHDEHL    351 - 420
LHGGQPPEGDPDLAKILEEVRYIANRFRCQDESEAVCSEWKFAACVVDRLCLMAFSVFTIICTIGILMSA    421 - 490
PNFVEAVSKDFA                                                              491 - 502
//

Text Mined References (34)

PMID Year Title
26206074 2015 CHRNA7 and CHRFAM7A mRNAs: co-localized and their expression levels altered in the postmortem dorsolateral prefrontal cortex in major psychiatric disorders.
25681457 2015 CHRFAM7A: a human-specific ?7-nicotinic acetylcholine receptor gene shows differential responsiveness of human intestinal epithelial cells to LPS.
25473097 2015 CHRFAM7A, a human-specific and partially duplicated ?7-nicotinic acetylcholine receptor gene with the potential to specify a human-specific inflammatory response to injury.
24787912 2014 Ordered subset analysis of copy number variation association with age at onset of Alzheimer's disease.
24024466 2013 Association study of the 2-bp deletion polymorphism in exon 6 of the CHRFAM7A gene with idiopathic generalized epilepsy.
23553139 2013 A transcript coding for a partially duplicated form of ?7 nicotinic acetylcholine receptor is absent from the CD4+ T-lymphocytes of patients with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).
22300029 2012 Genetic variations in CHRNA7 or CHRFAM7 and susceptibility to dementia.
20926142 2011 Expression of the ?7 nAChR subunit duplicate form (CHRFAM7A) is down-regulated in the monocytic cell line THP-1 on treatment with LPS.
20351714 2011 Poor replication of candidate genes for major depressive disorder using genome-wide association data.
19641318 2009 Association between a genetic variant of the alpha-7 nicotinic acetylcholine receptor subunit and four types of dementia.
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