Property Summary

NCBI Gene PubMed Count 26
PubMed Score 84.14
PubTator Score 11.50

Knowledge Summary

Patent (6,150)


Protein-protein Interaction (5)

Gene RIF (24)

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
19641318 Observational study of gene-disease association. (HuGE Navigator)
19631623 Observational study of gene-disease association. (HuGE Navigator)
19462340 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19149910 No significant associations of 2-bp deletion or CHRFAM7A copy number with antisaccade performance parameters were observed.
19149910 Observational study of gene-disease association. (HuGE Navigator)
19082523 In 20 smoking-matched people (n = 10 schizophrenia, n = 10 controls), we found significantly lower CHRFAM7A in cotinine and self-reported smokers versus nonsmokers (p
17192894 In persons with bipolar type schizoaffective disorder, CHRNA7 promoter region allelic variants are linked to the capacity to inhibit the P50 auditory evoked potential and thus are associated with a type of illness similar to schizophrenia.
17012698 Observational study of gene-disease association. (HuGE Navigator)
17012698 These observations indicate that episodic memory function is a schizophrenia endophenotype and implicate the CHRFAM7A/CHRNA7 locus in modulating its function.
16823804 Observational study of gene-disease association. (HuGE Navigator)
16417613 CHRFAM7A was identified as a candidate gene in the D15S165 region in a study of allelic variants at chromosome 15q14 in schizophrenia.
15885267 Results demonstrate that human and rat nicotinic acetylcholine receptors are senstive targets for volatile organic compounds in industrial products and are used in the risk assessment of these compounds.
14729617 Human mesothelioma cells and human biopsies of mesothelioma as well as of normal pleural mesothelial cells functionally express CHRNA7.
11829490 3-Mb map of 15q13-q14 showing that CHRFAM7A is part of a large segmental duplication in the opposite orientation to CHRNA7 and revealing several other duplications

AA Sequence

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.
19631623 2009 A 2-base pair deletion polymorphism in the partial duplication of the alpha7 nicotinic acetylcholine gene (CHRFAM7A) on chromosome 15q14 is associated with schizophrenia.
19462340 2010 Smoking in adult attention-deficit/hyperactivity disorder: interaction between 15q13 nicotinic genes and Temperament Character Inventory scores.
19149910 2009 CHRFAM7A copy number and 2-bp deletion polymorphisms and antisaccade performance.
19082523 2009 Differentiating nicotine- versus schizophrenia-associated decreases of the alpha7 nicotinic acetylcholine receptor transcript, CHRFAM7A, in peripheral blood lymphocytes.
17192894 2007 Sensory gating and alpha-7 nicotinic receptor gene allelic variants in schizoaffective disorder, bipolar type.
17012698 2006 Episodic memory performance predicted by the 2bp deletion in exon 6 of the "alpha 7-like" nicotinic receptor subunit gene.
16823804 2006 Association study of CHRFAM7A copy number and 2 bp deletion polymorphisms with schizophrenia and bipolar affective disorder.
16572171 2006 Analysis of the DNA sequence and duplication history of human chromosome 15.
16417613 2006 Characterization of allelic variants at chromosome 15q14 in schizophrenia.
16120769 2005 RIC-3 enhances functional expression of multiple nicotinic acetylcholine receptor subtypes in mammalian cells.
15885267 2005 Volatile organic compounds inhibit human and rat neuronal nicotinic acetylcholine receptors expressed in Xenopus oocytes.
15504725 2005 Ric-3 promotes functional expression of the nicotinic acetylcholine receptor alpha7 subunit in mammalian cells.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14729617 2004 Alpha7-nicotinic acetylcholine receptors affect growth regulation of human mesothelioma cells: role of mitogen-activated protein kinase pathway.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11840567 2002 Cluster analysis of an extensive human breast cancer cell line protein expression map database.
11829490 2002 A 3-Mb map of a large Segmental duplication overlapping the alpha7-nicotinic acetylcholine receptor gene (CHRNA7) at human 15q13-q14.
11424985 2001 Linkage disequilibrium for schizophrenia at the chromosome 15q13-14 locus of the alpha7-nicotinic acetylcholine receptor subunit gene (CHRNA7).
9782083 1998 Genomic organization and partial duplication of the human alpha7 neuronal nicotinic acetylcholine receptor gene (CHRNA7).
9009220 1997 Cloning and sequence of full-length cDNAs encoding the human neuronal nicotinic acetylcholine receptor (nAChR) subunits beta3 and beta4 and expression of seven nAChR subunits in the human neuroblastoma cell line SH-SY5Y and/or IMR-32.
8906617 1996 Comparative structure of human neuronal alpha 2-alpha 7 and beta 2-beta 4 nicotinic acetylcholine receptor subunits and functional expression of the alpha 2, alpha 3, alpha 4, alpha 7, beta 2, and beta 4 subunits.
8188270 1994 Molecular cloning and chromosomal localization of the human alpha 7-nicotinic receptor subunit gene (CHRNA7).
8145738 1994 Human alpha 7 acetylcholine receptor: cloning of the alpha 7 subunit from the SH-SY5Y cell line and determination of pharmacological properties of native receptors and functional alpha 7 homomers expressed in Xenopus oocytes.