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GCID:
GC15M030360
GIFtS:
48

CHRFAM7A Gene(Protein Coding)

CHRNA7 (Cholinergic Receptor, Nicotinic, Alpha 7, Exons 5-10) And FAM7A (Family With Sequence Similarity 7A, Exons A-E) Fusion

Aliases for CHRFAM7A Gene

Aliases for CHRFAM7A Gene

  • CHRNA7 (Cholinergic Receptor, Nicotinic, Alpha 7, Exons 5-10) And FAM7A (Family With Sequence Similarity 7A, Exons A-E) Fusion 2 3
  • CHRNA7-DR1 3 4
  • D-10 3 4
  • CHRNA7 (Cholinergic Receptor, Nicotinic, Alpha Polypeptide 7, Exons 5-10) And FAM7A (Family With Sequence Similarity 7A, Exons A-E) Fusion 3
  • Alpha 7 Neuronal Nicotinic Acetylcholine Receptor-FAM7A Hybrid 3
  • Alpha-7 Nicotinic Cholinergic Receptor Subunit 3
  • CHRNA7-FAM7A Fusion Protein 3
  • CHRNA7 3

External Ids for CHRFAM7A Gene

Summaries for CHRFAM7A Gene

Entrez Gene Summary for CHRFAM7A Gene

  • 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]

GeneCards Summary for CHRFAM7A Gene

CHRFAM7A (CHRNA7 (Cholinergic Receptor, Nicotinic, Alpha 7, Exons 5-10) And FAM7A (Family With Sequence Similarity 7A, Exons A-E) Fusion) is a Protein Coding gene. Diseases associated with CHRFAM7A include schizophrenia and frontal lobe epilepsy. Among its related pathways are CREB Pathway and Nanog in Mammalian ESC Pluripotency. GO annotations related to this gene include extracellular ligand-gated ion channel activity. An important paralog of this gene is HTR3A.

Gene Wiki entry for CHRFAM7A Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHRFAM7A Gene

Genomics for CHRFAM7A Gene

Genomic Location for CHRFAM7A Gene

Start:
30,360,566 bp from pter
End:
30,393,849 bp from pter
Size:
33,284 bases
Orientation:
Minus strand

Genomic View for CHRFAM7A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CHRFAM7A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHRFAM7A Gene

Regulatory Elements for CHRFAM7A Gene

Proteins for CHRFAM7A Gene

  • Protein details for CHRFAM7A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q494W8-CRFM7_HUMAN
    Recommended name:
    CHRNA7-FAM7A fusion protein
    Protein Accession:
    Q494W8
    Secondary Accessions:
    • A8KAB9

    Protein attributes for CHRFAM7A Gene

    Size:
    412 amino acids
    Molecular mass:
    46218 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CHRFAM7A Gene

Proteomics data for CHRFAM7A Gene at MOPED

Post-translational modifications for CHRFAM7A Gene

No Post-translational modifications

Other Protein References for CHRFAM7A Gene

No data available for DME Specific Peptides for CHRFAM7A Gene

Domains for CHRFAM7A Gene

UniProtKB/Swiss-Prot:

CRFM7_HUMAN
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family.:
    • Q494W8
genes like me logo Genes that share domains with CHRFAM7A: view

No data available for Gene Families for CHRFAM7A Gene

Function for CHRFAM7A Gene

Gene Ontology (GO) - Molecular Function for CHRFAM7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005230 extracellular ligand-gated ion channel activity IEA --
genes like me logo Genes that share ontologies with CHRFAM7A: view

miRNA for CHRFAM7A Gene

miRTarBase miRNAs that target CHRFAM7A

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for CHRFAM7A Gene

Localization for CHRFAM7A Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHRFAM7A Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHRFAM7A Gene COMPARTMENTS Subcellular localization image for CHRFAM7A gene
Compartment Confidence
plasma membrane 5
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CHRFAM7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CHRFAM7A: view

Pathways for CHRFAM7A Gene

genes like me logo Genes that share pathways with CHRFAM7A: view

Interacting Proteins for CHRFAM7A Gene

Gene Ontology (GO) - Biological Process for CHRFAM7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport --
GO:0006811 ion transport --
GO:0034220 ion transmembrane transport IEA --
GO:0034766 negative regulation of ion transmembrane transport --
GO:1903049 negative regulation of acetylcholine-gated cation channel activity --
genes like me logo Genes that share ontologies with CHRFAM7A: view

Transcripts for CHRFAM7A Gene

Unigene Clusters for CHRFAM7A Gene

CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CHRFAM7A Gene

No ASD Table

Relevant External Links for CHRFAM7A Gene

GeneLoc Exon Structure for
CHRFAM7A
ECgene alternative splicing isoforms for
CHRFAM7A

Expression for CHRFAM7A Gene

mRNA expression in normal human tissues for CHRFAM7A Gene

mRNA differential expression in normal tissues according to GTEx for CHRFAM7A Gene

This gene is overexpressed in Testis (4.1).

SOURCE GeneReport for Unigene cluster for CHRFAM7A Gene Hs.510853

mRNA Expression by UniProt/SwissProt for CHRFAM7A Gene

Q494W8-CRFM7_HUMAN
Tissue specificity: Expressed in hippocampus.
genes like me logo Genes that share expressions with CHRFAM7A: view

Orthologs for CHRFAM7A Gene

This gene was present in the common ancestor of animals.

Orthologs for CHRFAM7A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHRFAM7A 37
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHRNA7 37
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 71 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 88 (a)
OneToMany
chicken
(Gallus gallus)
Aves CHRNA7 37
  • 72 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 74 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii CABZ01069081.1 37
  • 74 (a)
ManyToMany
CABZ01088685.1 37
  • 68 (a)
ManyToMany
chrna7 37
  • 60 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta gfA 37
  • 34 (a)
ManyToMany
nAcRalpha-30D 37
  • 35 (a)
ManyToMany
nAcRalpha-34E 37
  • 23 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea acr-10 37
  • 24 (a)
ManyToMany
acr-11 37
  • 30 (a)
ManyToMany
acr-14 37
  • 26 (a)
ManyToMany
acr-15 37
  • 27 (a)
ManyToMany
acr-16 37
  • 34 (a)
ManyToMany
acr-19 37
  • 31 (a)
ManyToMany
acr-25 37
  • 25 (a)
ManyToMany
acr-7 37
  • 26 (a)
ManyToMany
acr-9 37
  • 27 (a)
ManyToMany
eat-2 37
  • 27 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 24 (a)
ManyToMany
Species with no ortholog for CHRFAM7A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CHRFAM7A Gene

ENSEMBL:
Gene Tree for CHRFAM7A (if available)
TreeFam:
Gene Tree for CHRFAM7A (if available)

Paralogs for CHRFAM7A Gene

Paralogs for CHRFAM7A Gene

Selected SIMAP similar genes for CHRFAM7A Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CHRFAM7A: view

Variants for CHRFAM7A Gene

Sequence variations from dbSNP and Humsavar for CHRFAM7A Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs167005 -- 30,371,327(+) TATGT(A/G)TGGGC intron-variant
rs286092 -- 30,365,139(-) TCTCT(C/T)GCTTT intron-variant
rs286093 -- 30,364,671(-) TGTGC(A/G)AGTTT intron-variant
rs286094 -- 30,364,469(-) GACTT(A/G)TCTCA intron-variant
rs286096 -- 30,363,513(-) TATTT(A/G)TGCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CHRFAM7A Gene

Variant ID Type Subtype PubMed ID
esv2751526 CNV Loss 17911159
dgv716e1 CNV Complex 17122850
nsv428300 CNV Loss 18775914
dgv717e1 CNV Complex 17122850
nsv518720 CNV Gain 19592680
nsv903757 CNV Gain 21882294
nsv9232 CNV Gain+Loss 18304495
nsv903759 CNV Gain 21882294
nsv821679 CNV Gain 15273396
dgv2293n71 CNV Loss 21882294
esv26291 CNV Gain+Loss 19812545
dgv2296n71 CNV Loss 21882294
dgv2297n71 CNV Loss 21882294
dgv2298n71 CNV Loss 21882294
dgv718e1 CNV Complex 17122850
esv2421738 CNV Duplication 20811451
dgv719e1 CNV Complex 17122850
nsv903791 CNV Loss 21882294
dgv2300n71 CNV Gain 21882294
nsv832948 CNV Gain+Loss 17160897
dgv2301n71 CNV Loss 21882294
nsv903799 CNV Loss 21882294
nsv903805 CNV Gain 21882294
nsv903806 CNV Loss 21882294
nsv442696 CNV CNV 18776908
nsv433291 CNV Loss 18776910
nsv469586 CNV Loss 16826518
dgv720e1 CNV Complex 17122850
nsv514775 CNV Complex 21397061
nsv482176 CNV Gain 20164927
esv2749523 CNV Deletion 23290073
esv997659 CNV Gain 20482838

Relevant External Links for CHRFAM7A Gene

HapMap Linkage Disequilibrium report
CHRFAM7A
Human Gene Mutation Database (HGMD)
CHRFAM7A

Disorders for CHRFAM7A Gene

(1) University of Copenhagen DISEASES for CHRFAM7A Gene

Relevant External Links for CHRFAM7A

Genetic Association Database (GAD)
CHRFAM7A
Human Genome Epidemiology (HuGE) Navigator
CHRFAM7A
genes like me logo Genes that share disorders with CHRFAM7A: view

No data available for UniProtKB/Swiss-Prot for CHRFAM7A Gene

Publications for CHRFAM7A Gene

  1. CHRFAM7A copy number and 2-bp deletion polymorphisms and antisaccade performance. (PMID: 19149910) Petrovsky N. … Ettinger U. (Int. J. Neuropsychopharmacol. 2009) 3 23 49
  2. Smoking in adult attention-deficit/hyperactivity disorder: interaction between 15q13 nicotinic genes and Temperament Character Inventory scores. (PMID: 19462340) Manchia M. … Kennedy J.L. (World J. Biol. Psychiatry 2010) 3 23 49
  3. A 2-base pair deletion polymorphism in the partial duplication of the alpha7 nicotinic acetylcholine gene (CHRFAM7A) on chromosome 15q14 is associated with schizophrenia. (PMID: 19631623) Sinkus M.L. … Leonard S. (Brain Res. 2009) 3 23 49
  4. Association study of CHRFAM7A copy number and 2 bp deletion polymorphisms with schizophrenia and bipolar affective disorder. (PMID: 16823804) Flomen R.H. … Makoff A.J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2006) 3 23 49
  5. A 3-Mb map of a large segmental duplication overlapping the alpha7- nicotinic acetylcholine receptor gene (CHRNA7) at human 15q13-q14. (PMID: 11829490) Riley B. … Makoff A. (Genomics 2002) 2 3

Products for CHRFAM7A Gene

  • antibodies-online peptides for CHRFAM7A
  • antibodies-online antibodies for CHRFAM7A
  • antibodies-online kits for CHRFAM7A

Sources for CHRFAM7A Gene

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