CHRFAM7A CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion [Homo sapiens] - Gene

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Summary

Official Symbol: CHRFAM7Aprovided by HGNC
Official Full Name: CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusionprovided by HGNC
Primary source: HGNC:15781
See related: Ensembl:ENSG00000166664; HPRD:18704; MIM:609756; Vega:OTTHUMG00000175645
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: D-10; CHRNA7; CHRNA7-DR1; MGC120482; MGC120483
Summary: 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. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 15q13.1

Sequence :: Chromosome: 15; NC_000015.9 (30653443..30685864, complement)

See CHRFAM7A in Epigenomics, MapViewer

Chromosome 15 - NC_000015.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

the partially duplicated alpha7 nAChR subunit gene may specifically participate in the inflammatory response of the innate immune system.
Title: Expression of the α7 nAChR subunit duplicate form (CHRFAM7A) is down-regulated in the monocytic cell line THP-1 on treatment with LPS.
polymorphism of CHRFAM7A can be implicated in Alzheimer's disease, dementia with Lewy bodies and Pick's disease
Title: Association between a genetic variant of the alpha-7 nicotinic acetylcholine receptor subunit and four types of dementia.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Smoking in adult attention-deficit/hyperactivity disorder: interaction between 15q13 nicotinic genes and Temperament Character Inventory scores.
No significant associations of 2-bp deletion or CHRFAM7A copy number with antisaccade performance parameters were observed.
Title: CHRFAM7A copy number and 2-bp deletion polymorphisms and antisaccade performance.
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
Title: Differentiating nicotine- versus schizophrenia-associated decreases of the alpha7 nicotinic acetylcholine receptor transcript, CHRFAM7A, in peripheral blood lymphocytes.
Observational study of gene-disease association. (HuGE Navigator)
Title: Poor replication of candidate genes for major depressive disorder using genome-wide association data.
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.
Title: Sensory gating and alpha-7 nicotinic receptor gene allelic variants in schizoaffective disorder, bipolar type.
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
Title: A 3-Mb map of a large Segmental duplication overlapping the alpha7-nicotinic acetylcholine receptor gene (CHRNA7) at human 15q13-q14.
These observations indicate that episodic memory function is a schizophrenia endophenotype and implicate the CHRFAM7A/CHRNA7 locus in modulating its function.
Title: Episodic memory performance predicted by the 2bp deletion in exon 6 of the "alpha 7-like" nicotinic receptor subunit gene.
Human mesothelioma cells and human biopsies of mesothelioma as well as of normal pleural mesothelial cells functionally express CHRNA7.
Title: Alpha7-nicotinic acetylcholine receptors affect growth regulation of human mesothelioma cells: role of mitogen-activated protein kinase pathway.

Submit: New GeneRIF Correction See all (12)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Function	Evidence Code	Pubs
extracellular ligand-gated ion channel activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
ion transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info
postsynaptic membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: CHRNA7-FAM7A fusion protein

Names: CHRNA7-FAM7A fusion protein; alpha-7 nicotinic cholinergic receptor subunit; alpha 7 neuronal nicotinic acetylcholine receptor-FAM7A hybrid; CHRNA7 (cholinergic receptor, nicotinic, alpha polypeptide 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_139320.1 → NP_647536.1 CHRNA7-FAM7A fusion protein isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) is the full-length variant and encodes the longer isoform (1).

Source sequence(s)

AC019322

Consensus CDS

CCDS32184.1

UniProtKB/Swiss-Prot

Q494W8

Related

ENSP00000299847, OTTHUMP00000253979, ENST00000299847, OTTHUMT00000430700

Conserved Domains (2) summary

pfam02931
Location:28 – 140
Blast Score: 391

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:147 – 396
Blast Score: 467

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
NM_148911.1 → NP_683709.1 CHRNA7-FAM7A fusion protein isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an internal exon compared to variant 1, and is missing the translation initiation site used by the longer variant. Translation from variant 2 initiates at a downstream site relative to variant 1, resulting in isoform (2), which is truncated at the N-terminus compared to isoform 1.

Source sequence(s)

AC019322

Consensus CDS

CCDS42008.1

UniProtKB/TrEMBL

Q8IUZ4

Related

ENSP00000380927, ENST00000397827

Conserved Domains (2) summary

pfam02931
Location:1 – 49
Blast Score: 165

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:56 – 305
Blast Score: 464

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000015.9 Reference GRCh37.p5 Primary Assembly

Range

30653443..30685864, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000147.1 Alternate HuRef

Range

8073189..8085140, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC019322.8 (58653..91074)	None
genomic	AF332759.1	None
mRNA	AF029838.1	None
mRNA	AF029839.1	None
mRNA	AF036903.1	None
mRNA	AK292984.1	BAF85673.1
mRNA	BC101345.1	AAI01346.1
mRNA	BC101346.2	AAI01347.1
mRNA	BC101347.2	AAI01348.1
mRNA	BC101348.2	AAI01349.1
mRNA	BQ720423.1	None
mRNA	AF037646.1	None