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Aliases for CHRFAM7A Gene

Aliases for CHRFAM7A Gene

  • CHRNA7 (Exons 5-10) And FAM7A (Exons A-E) Fusion 2 3 5
  • 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

Previous GeneCards Identifiers for CHRFAM7A Gene

  • GC15M025924
  • GC15M023461
  • GC15M028233
  • GC15M028369
  • GC15M028440
  • GC15M030653

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 (Exons 5-10) And FAM7A (Exons A-E) Fusion) is a Protein Coding gene. Diseases associated with CHRFAM7A include Chromosome 15Q13.3 Microdeletion Syndrome and Frontal Lobe Epilepsy. Among its related pathways are SIDS Susceptibility Pathways. GO annotations related to this gene include extracellular ligand-gated ion channel activity. An important paralog of this gene is CHRNA7.

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

Regulatory Elements for CHRFAM7A Gene

Enhancers for CHRFAM7A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around CHRFAM7A on UCSC Golden Path with GeneCards custom track

Promoters for CHRFAM7A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for CHRFAM7A Gene

Chromosome:
15
Start:
30,357,766 bp from pter
End:
30,393,849 bp from pter
Size:
36,084 bases
Orientation:
Minus strand

Genomic View for CHRFAM7A Gene

Genes around CHRFAM7A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHRFAM7A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHRFAM7A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

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 & Families for CHRFAM7A Gene

Suggested Antigen Peptide Sequences for CHRFAM7A Gene

Graphical View of Domain Structure for InterPro Entry

Q494W8

UniProtKB/Swiss-Prot:

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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 4

Gene Ontology (GO) - Cellular Components for CHRFAM7A Gene

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

Pathways & Interactions for CHRFAM7A Gene

SuperPathways for CHRFAM7A Gene

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

Pathways by source for CHRFAM7A Gene

1 BioSystems pathway for CHRFAM7A Gene

Interacting Proteins for CHRFAM7A Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000299847%0d%0a9606.ENSP00000384892%0d%0a9606.ENSP00000313490%0d%0a9606.ENSP00000380605%0d%0a9606.ENSP00000290866%0d%0a9606.ENSP00000240139%0d%0a
Selected Interacting proteins: ENSP00000299847 Q494W8-CRFM7_HUMAN for CHRFAM7A Gene via STRING IID

Gene Ontology (GO) - Biological Process for CHRFAM7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034220 ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with CHRFAM7A: view

No data available for SIGNOR curated interactions for CHRFAM7A Gene

Drugs & Compounds for CHRFAM7A Gene

(4) Drugs for CHRFAM7A Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
(3-EXO)-3-(10,11-DIHYDRO-5H-DIBENZO[A,D][7]ANNULEN-5-YLOXY)-8,8-DIMETHYL-8-AZONIABICYCLO[3.2.1]OCTANE Experimental Pharma Target 0
(E)-imidacloprid Experimental Pharma Target 0
{(2Z)-3-[(6-chloropyridin-3-yl)methyl]-1,3-thiazolidin-2-ylidene}cyanamide Experimental Pharma Target 0
EPIBATIDINE Experimental Pharma Target 0
genes like me logo Genes that share compounds 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 (x4.1).

NURSA nuclear receptor signaling pathways regulating expression of CHRFAM7A Gene:

CHRFAM7A

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 expression patterns with CHRFAM7A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for CHRFAM7A Gene

Orthologs for CHRFAM7A Gene

This gene was present in the common ancestor of animals.

Orthologs for CHRFAM7A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CHRNA7 35
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 71 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 88 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia CHRFAM7A 35
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHRNA7 35
  • 72 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 74 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii CABZ01069081.1 35
  • 74 (a)
ManyToMany
CABZ01088685.1 35
  • 68 (a)
ManyToMany
chrna7 35
  • 60 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta gfA 35
  • 34 (a)
ManyToMany
nAcRalpha-30D 35
  • 35 (a)
ManyToMany
nAcRalpha-34E 35
  • 23 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea acr-10 35
  • 24 (a)
ManyToMany
acr-11 35
  • 30 (a)
ManyToMany
acr-14 35
  • 26 (a)
ManyToMany
acr-15 35
  • 27 (a)
ManyToMany
acr-16 35
  • 34 (a)
ManyToMany
acr-19 35
  • 31 (a)
ManyToMany
acr-25 35
  • 25 (a)
ManyToMany
acr-7 35
  • 26 (a)
ManyToMany
acr-9 35
  • 27 (a)
ManyToMany
eat-2 35
  • 27 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 24 (a)
ManyToMany
Species where no ortholog for CHRFAM7A was found in the sources mined by GeneCards:
  • 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

(13) 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
rs2604808 -- 30,394,815(+) CCAGG(C/T)GTCTG upstream-variant-2KB
rs2604809 -- 30,394,880(+) TTCCA(A/G)TTTCT upstream-variant-2KB
rs2604810 -- 30,395,361(+) CTCCT(A/G)TAGCA upstream-variant-2KB
rs2648258 -- 30,395,336(-) GAGGC(A/G)GTGCA upstream-variant-2KB
rs378335 -- 30,377,333(-) AGTTC(G/T)GTGTG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv105n111 CNV duplication 26073780
dgv1399e59 CNV duplication 20981092
dgv2495n100 CNV loss 25217958
dgv2496n100 CNV gain 25217958
dgv2498n100 CNV gain+loss 25217958
dgv2499n100 CNV loss 25217958
dgv2500n100 CNV gain+loss 25217958
dgv2501n100 CNV gain 25217958
dgv2502n100 CNV gain+loss 25217958
dgv2503n100 CNV loss 25217958
dgv2504n100 CNV gain 25217958
dgv2505n100 CNV loss 25217958
dgv2507n100 CNV loss 25217958
dgv2509n100 CNV gain 25217958
dgv2510n100 CNV loss 25217958
dgv2511n100 CNV loss 25217958
dgv2512n100 CNV loss 25217958
dgv2513n100 CNV loss 25217958
dgv2514n100 CNV loss 25217958
dgv2515n100 CNV gain+loss 25217958
dgv2516n100 CNV loss 25217958
dgv2517n100 CNV loss 25217958
dgv2518n100 CNV gain 25217958
dgv2519n100 CNV loss 25217958
dgv2520n100 CNV loss 25217958
dgv2521n100 CNV loss 25217958
dgv2522n100 CNV gain+loss 25217958
dgv2523n100 CNV gain 25217958
dgv42e203 CNV gain+loss 21179565
dgv4417n54 CNV loss 21841781
dgv4418n54 CNV loss 21841781
dgv4419n54 CNV loss 21841781
dgv4421n54 CNV loss 21841781
dgv4422n54 CNV loss 21841781
dgv4423n54 CNV loss 21841781
esv2421738 CNV duplication 20811451
esv26291 CNV gain+loss 19812545
esv2751526 CNV loss 17911159
esv2760022 CNV gain+loss 17122850
esv3584919 CNV gain 24956385
esv3584920 CNV gain 24956385
esv3636024 CNV loss 21293372
esv3892642 CNV gain+loss 25118596
esv997659 CNV gain 20482838
nsv1038958 CNV gain 25217958
nsv1040213 CNV gain+loss 25217958
nsv1040778 CNV loss 25217958
nsv1041708 CNV gain 25217958
nsv1049226 CNV gain+loss 25217958
nsv1049639 CNV gain+loss 25217958
nsv1050570 CNV gain+loss 25217958
nsv1071199 CNV deletion 25765185
nsv1141634 CNV deletion 24896259
nsv1143771 CNV deletion 24896259
nsv1144726 CNV deletion 24896259
nsv1148560 OTHER inversion 26484159
nsv1152099 CNV duplication 26484159
nsv1152738 CNV duplication 26484159
nsv1153705 CNV duplication 26484159
nsv1160257 CNV duplication 26073780
nsv1160264 CNV duplication 26073780
nsv1160266 CNV deletion 26073780
nsv428300 CNV loss 18775914
nsv433291 CNV loss 18776910
nsv442696 CNV gain 18776908
nsv469586 CNV loss 16826518
nsv482176 CNV gain 20164927
nsv514775 CNV gain+loss 21397061
nsv518720 CNV gain 19592680
nsv821679 CNV gain 15273396
nsv832948 CNV gain+loss 17160897
nsv9232 CNV gain+loss 18304495
nsv952596 CNV deletion 24416366
nsv977689 CNV duplication 23825009

Variation tolerance for CHRFAM7A Gene

Gene Damage Index Score: 10.95; 91.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHRFAM7A Gene

Human Gene Mutation Database (HGMD)
CHRFAM7A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHRFAM7A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHRFAM7A Gene

Disorders for CHRFAM7A Gene

MalaCards: The human disease database

(7) MalaCards diseases for CHRFAM7A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
chromosome 15q13.3 microdeletion syndrome
  • chromosome 15q13.3 deletion syndrome
frontal lobe epilepsy
  • epilepsy frontal lobe
intermittent explosive disorder
  • explosive personality disorder
autosomal dominant nocturnal frontal lobe epilepsy
  • adnfle
attention deficit-hyperactivity disorder
  • attention deficit hyperactivity disorder
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CHRFAM7A

Genetic Association Database (GAD)
CHRFAM7A
Human Genome Epidemiology (HuGE) Navigator
CHRFAM7A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHRFAM7A
genes like me logo Genes that share disorders with CHRFAM7A: view

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

Publications for CHRFAM7A Gene

  1. 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 22 46 65
  2. CHRFAM7A copy number and 2-bp deletion polymorphisms and antisaccade performance. (PMID: 19149910) Petrovsky N. … Ettinger U. (Int. J. Neuropsychopharmacol. 2009) 3 22 46 65
  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 22 46 65
  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 22 46 65
  5. Association between a genetic variant of the alpha-7 nicotinic acetylcholine receptor subunit and four types of dementia. (PMID: 19641318) FehAcr A. … Janka Z. (Dement Geriatr Cogn Disord 2009) 3 46 65

Products for CHRFAM7A Gene

Sources for CHRFAM7A Gene

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