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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 Deletion Syndrome and Intermittent Explosive Disorder. Among its related pathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Gene Ontology (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

Additional gene information for CHRFAM7A Gene

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

Genomics for CHRFAM7A Gene

GeneHancer (GH) Regulatory Elements for CHRFAM7A Gene

Promoters and enhancers for CHRFAM7A Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J030392 Promoter 1.3 EPDnew Ensembl 650.7 +0.5 548 1.4 ZNF335 ZFP69B ZFHX2 ZNF692 ZSCAN4 KLF9 ZBTB26 CHRFAM7A DNM1P29 ENSG00000274966 ENSG00000263070 PIRC63
GH15J031385 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 5.7 -995.9 -995884 8.8 HDAC1 PKNOX1 ATF1 FOXA2 SIN3A RAD21 YY1 ZNF335 GLIS2 EGR1 LOC105370939 ENSG00000270055 CHRFAM7A GOLGA8R MTMR10 PIR56209 GC15P031378 KLF13
GH15J031261 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 4.7 -871.7 -871668 9 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B IRF4 YY1 ZNF207 ZNF143 KLF13 ENSG00000270055 ENSG00000269930 MTMR10 CHRFAM7A LOC283710
GH15J030955 Enhancer 0.6 dbSUPER 6.9 -562.6 -562610 2.6 MEIS2 USF2 MAX CEBPB ZMYM3 CEBPG ZNF398 ZNF623 ATF2 ATF4 GC15M030957 RNU6-466P MTMR10 ENSG00000215302 CHRFAM7A GOLGA8R HERC2P10
GH15J030842 Enhancer 0.6 ENCODE 6.7 -449.1 -449059 1.4 ZNF687 ELF1 DPF2 IKZF1 ATF7 RUNX3 IKZF2 SPI1 FAN1 ENSG00000261628 ENSG00000260382 CHRFAM7A PIR47087 PIR48721 HERC2P10
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHRFAM7A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CHRFAM7A gene promoter:
  • p53
  • E2F
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Pbx1a
  • Zic3
  • E2F-1

Genomic Locations for CHRFAM7A Gene

Genomic Locations for CHRFAM7A Gene
36,084 bases
Minus strand
32,610 bases
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:
    Recommended name:
    CHRNA7-FAM7A fusion protein
    Protein Accession:
    Secondary Accessions:
    • A8KAB9

    Protein attributes for CHRFAM7A Gene

    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

Gene Families for CHRFAM7A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for CHRFAM7A Gene

Graphical View of Domain Structure for InterPro Entry



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

Function for CHRFAM7A Gene

Phenotypes From GWAS Catalog for CHRFAM7A Gene

Gene Ontology (GO) - Molecular Function for CHRFAM7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0005216 ion channel activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0015464 CONTRIBUTES_TO acetylcholine receptor activity IBA --
GO:0042166 acetylcholine binding IBA --
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHRFAM7A

Clone 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHRFAM7A gene
Compartment Confidence
plasma membrane 3

Gene Ontology (GO) - Cellular Components for CHRFAM7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IBA --
GO:0005892 acetylcholine-gated channel complex IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043005 neuron projection IBA --
genes like me logo Genes that share ontologies with CHRFAM7A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CHRFAM7A Gene

Pathways & Interactions 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

Gene Ontology (GO) - Biological Process for CHRFAM7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0007165 signal transduction IEA --
GO:0007268 chemical synaptic transmission IBA --
GO:0007271 synaptic transmission, cholinergic IBA --
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
{(2Z)-3-[(6-chloropyridin-3-yl)methyl]-1,3-thiazolidin-2-ylidene}cyanamide Experimental Pharma Target 0
Epibatidine Experimental Pharma Target 0
Imidacloprid Vet_approved Pharma Target 221
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHRFAM7A

Clone Products

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

No ASD Table

Relevant External Links for CHRFAM7A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CHRFAM7A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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:


SOURCE GeneReport for Unigene cluster for CHRFAM7A Gene:


mRNA Expression by UniProt/SwissProt for CHRFAM7A Gene:

Tissue specificity: Expressed in hippocampus.

Evidence on tissue expression from TISSUES for CHRFAM7A Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with CHRFAM7A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Bos Taurus)
Mammalia CHRNA7 34
  • 95 (a)
(Pan troglodytes)
Mammalia CHRFAM7A 34
  • 91 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 88 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 71 (a)
(Gallus gallus)
Aves CHRNA7 34
  • 72 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 74 (a)
(Danio rerio)
Actinopterygii CABZ01069081.1 34
  • 74 (a)
CABZ01088685.1 34
  • 68 (a)
chrna7 34
  • 60 (a)
fruit fly
(Drosophila melanogaster)
Insecta nAcRalpha-30D 34
  • 35 (a)
gfA 34
  • 34 (a)
nAcRalpha-34E 34
  • 23 (a)
(Caenorhabditis elegans)
Secernentea acr-16 34
  • 34 (a)
acr-19 34
  • 31 (a)
acr-11 34
  • 30 (a)
acr-15 34
  • 27 (a)
eat-2 34
  • 27 (a)
acr-9 34
  • 27 (a)
acr-7 34
  • 26 (a)
acr-14 34
  • 26 (a)
acr-25 34
  • 25 (a)
acr-10 34
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 24 (a)
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

Gene Tree for CHRFAM7A (if available)
Gene Tree for CHRFAM7A (if available)
Evolutionary constrained regions (ECRs) for CHRFAM7A: view image

Paralogs for CHRFAM7A Gene

Paralogs for CHRFAM7A Gene

(13) SIMAP similar genes for CHRFAM7A Gene using alignment to 3 proteins:

  • Q693P7_HUMAN
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 Variation AA Info Type
rs1000060642 -- 30,358,328(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000848377 -- 30,377,792(-) G/A intron_variant
rs1001088302 -- 30,377,196(-) AAA/AA intron_variant
rs1001361814 -- 30,357,383(-) A/C downstream_transcript_variant
rs1002165289 -- 30,374,552(-) A/G/T 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)

Additional Variant Information for CHRFAM7A Gene

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

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

Disorders for CHRFAM7A Gene

MalaCards: The human disease database

(4) MalaCards diseases for CHRFAM7A Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
chromosome 15q13.3 deletion syndrome
  • chromosome 15q13.3 microdeletion syndrome
intermittent explosive disorder
  • explosive personality disorder
attention deficit-hyperactivity disorder
  • adhd
epilepsy, idiopathic generalized
  • eig
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CHRFAM7A

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 JL (The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry 2010) 3 22 44 58
  2. 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 ML … Leonard S (Brain research 2009) 3 22 44 58
  3. CHRFAM7A copy number and 2-bp deletion polymorphisms and antisaccade performance. (PMID: 19149910) Petrovsky N … Ettinger U (The international journal of neuropsychopharmacology 2009) 3 22 44 58
  4. Association study of CHRFAM7A copy number and 2 bp deletion polymorphisms with schizophrenia and bipolar affective disorder. (PMID: 16823804) Flomen RH … Makoff AJ (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2006) 3 22 44 58
  5. Association between a genetic variant of the alpha-7 nicotinic acetylcholine receptor subunit and four types of dementia. (PMID: 19641318) Fehér A … Janka Z (Dementia and geriatric cognitive disorders 2009) 3 44 58

Products for CHRFAM7A Gene

Sources for CHRFAM7A Gene

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