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Aliases for CHRNA7 Gene

Aliases for CHRNA7 Gene

  • Cholinergic Receptor Nicotinic Alpha 7 Subunit 2 3 5
  • Cholinergic Receptor, Nicotinic, Alpha Polypeptide 7 2 3
  • Cholinergic Receptor, Nicotinic, Alpha 7 (Neuronal) 2 3
  • Cholinergic Receptor, Nicotinic Alpha 7 2 3
  • NACHRA7 3 4
  • Neuronal Acetylcholine Receptor Protein, Alpha-7 Chain 3
  • Acetylcholine Receptor, Nicotinic, Alpha 7 (Neuronal) 2
  • Alpha 7 Neuronal Nicotinic Acetylcholine Receptor 3
  • Neuronal Acetylcholine Receptor Subunit Alpha-7 3
  • Alpha-7 Nicotinic Cholinergic Receptor Subunit 3
  • A7 Nicotinic Acetylcholine Receptor 3
  • CHRNA7-2 3

External Ids for CHRNA7 Gene

Previous GeneCards Identifiers for CHRNA7 Gene

  • GC15M026503
  • GC15P025077
  • GC15P029901
  • GC15P030038
  • GC15P030110
  • GC15P032322
  • GC15M008072
  • GC15P030877
  • GC15P032030

Summaries for CHRNA7 Gene

Entrez Gene Summary for CHRNA7 Gene

  • The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

GeneCards Summary for CHRNA7 Gene

CHRNA7 (Cholinergic Receptor Nicotinic Alpha 7 Subunit) is a Protein Coding gene. Diseases associated with CHRNA7 include Chromosome 15Q13.3 Deletion Syndrome and Intermittent Explosive Disorder. Among its related pathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and A-beta Signaling Pathways. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and amyloid-beta binding. An important paralog of this gene is CHRFAM7A.

UniProtKB/Swiss-Prot for CHRNA7 Gene

  • After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. The channel is blocked by alpha-bungarotoxin.

Tocris Summary for CHRNA7 Gene

  • Alpha 7 (alpha7) is a subunit of the neuronal nicotinic receptor that can combine to form homomeric receptors. The alpha7 nAChR is prominent in the hippocampus, found on GABAergic interneurons of stratum oriens and stratum radiatum, and on pyramidal neurones.

Gene Wiki entry for CHRNA7 Gene

Additional gene information for CHRNA7 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHRNA7 Gene

Genomics for CHRNA7 Gene

GeneHancer (GH) Regulatory Elements for CHRNA7 Gene

Promoters and enhancers for CHRNA7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J032029 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 650.1 +106.8 106772 1.8 CTCF USF1 BACH1 SIN3A ZIC2 ZNF335 ZFHX2 GLIS2 POLR2A ZBTB48 LOC105370940 CHRNA7 ENSG00000206849
GH15J031440 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 14.6 -480.9 -480936 4.2 CTCF JUN MAX SIN3A EBF1 RAD21 FOSL1 E2F1 EGR1 POLR2A CHRNA7 ENSG00000270055 ENSG00000269930 MTMR10 KLF13 LOC400347 UBE2CP4
GH15J031214 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 12.7 -707.6 -707624 3.4 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 SP3 LINC02352 ENSG00000270055 ENSG00000270015 CHRNA7 ENSG00000247728 ENSG00000215302 PIR62095
GH15J031234 Enhancer 1.3 Ensembl ENCODE dbSUPER 8.4 -687.2 -687166 2.6 HDGF GLIS2 ZNF143 ATF7 FOS RUNX3 NFKBIZ ZNF592 SMARCA4 GLIS1 CHRNA7 LOC283710 KLF13
GH15J031487 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 6.6 -434.4 -434415 2.6 PKNOX1 RB1 BATF IRF4 RAD21 RFX5 YY1 EGR1 ZNF143 FOS OTUD7A CHRNA7 MTMR10 KLF13 GC15M031476 LOC105370753
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHRNA7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CHRNA7 gene promoter:
  • C/EBPalpha
  • STAT5A
  • AREB6
  • Nkx2-5
  • NF-1
  • FOXL1
  • SRF
  • SRF (504 AA)
  • NF-E2 p45
  • NF-E2

Genomic Locations for CHRNA7 Gene

Genomic Locations for CHRNA7 Gene
chr15:31,923,438-32,173,018
(GRCh38/hg38)
Size:
249,581 bases
Orientation:
Plus strand
chr15:32,322,691-32,464,722
(GRCh37/hg19)
Size:
142,032 bases
Orientation:
Plus strand

Genomic View for CHRNA7 Gene

Genes around CHRNA7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHRNA7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHRNA7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHRNA7 Gene

Proteins for CHRNA7 Gene

  • Protein details for CHRNA7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P36544-ACHA7_HUMAN
    Recommended name:
    Neuronal acetylcholine receptor subunit alpha-7
    Protein Accession:
    P36544
    Secondary Accessions:
    • A8K7Q4
    • B4DFS0
    • Q15826
    • Q8IUZ4
    • Q96RH2
    • Q99555
    • Q9BXH0

    Protein attributes for CHRNA7 Gene

    Size:
    502 amino acids
    Molecular mass:
    56449 Da
    Quaternary structure:
    • Homopentamer (By similarity). Interacts with RIC3; which is required for proper folding and assembly (PubMed:15504725, PubMed:16120769). Interacts with LYPD6 (PubMed:27344019). Interacts with the alpha-conotoxin RgIA (By similarity). Interacts with alpha-conotoxins ImI and ImII (PubMed:15609996).
    SequenceCaution:
    • Sequence=AAH37571.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CHRNA7 Gene

    Alternative splice isoforms for CHRNA7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHRNA7 Gene

Post-translational modifications for CHRNA7 Gene

  • Glycosylation at posLast=133133, Asn90, and Asn46
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CHRNA7 Gene

Domains & Families for CHRNA7 Gene

Gene Families for CHRNA7 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted membrane proteins
  • Transporters

Graphical View of Domain Structure for InterPro Entry

P36544

UniProtKB/Swiss-Prot:

ACHA7_HUMAN :
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-7/CHRNA7 sub-subfamily.
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-7/CHRNA7 sub-subfamily.
genes like me logo Genes that share domains with CHRNA7: view

Function for CHRNA7 Gene

Molecular function for CHRNA7 Gene

UniProtKB/Swiss-Prot Function:
After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. The channel is blocked by alpha-bungarotoxin.
GENATLAS Biochemistry:
cholinergic receptor,nicotinic,alpha 7 polypeptide (alpha-bungarotoxin binding),brain,partially duplicated

Phenotypes From GWAS Catalog for CHRNA7 Gene

Gene Ontology (GO) - Molecular Function for CHRNA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding IPI 10681545
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0005216 ion channel activity IEA,IDA 17898229
GO:0005230 CONTRIBUTES_TO extracellular ligand-gated ion channel activity IEA,IBA --
GO:0005262 calcium channel activity TAS 11404397
genes like me logo Genes that share ontologies with CHRNA7: view
genes like me logo Genes that share phenotypes with CHRNA7: view

Human Phenotype Ontology for CHRNA7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CHRNA7 Gene

MGI Knock Outs for CHRNA7:

Animal Model Products

miRNA for CHRNA7 Gene

miRTarBase miRNAs that target CHRNA7

Clone Products

  • R&D Systems cDNA Clones for CHRNA7 (Nicotinic Acetylcholine R alpha 7/CHRNA7)

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CHRNA7 Gene

Localization for CHRNA7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHRNA7 Gene

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
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 CHRNA7 gene
Compartment Confidence
plasma membrane 5
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CHRNA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS,IEA --
GO:0005887 integral component of plasma membrane IBA --
GO:0005892 acetylcholine-gated channel complex IDA 8906617
GO:0009897 external side of plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CHRNA7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CHRNA7 Gene

Pathways & Interactions for CHRNA7 Gene

genes like me logo Genes that share pathways with CHRNA7: view

SIGNOR curated interactions for CHRNA7 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for CHRNA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity IDA 10771023
GO:0001666 response to hypoxia IDA 12189247
GO:0001933 negative regulation of protein phosphorylation IEA --
GO:0001934 positive regulation of protein phosphorylation ISS --
GO:0001988 positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure IEA --
genes like me logo Genes that share ontologies with CHRNA7: view

Drugs & Compounds for CHRNA7 Gene

(152) Drugs for CHRNA7 Gene - From: DrugBank, PharmGKB, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Galantamine Approved Pharma Target, allosteric modulator Acetylcholinesterase inhibitor 106
Mecamylamine Approved, Investigational Pharma Channel blocker, antagonist, Target 27
Nicotine Approved Pharma Antagonist, Activation, Activator, antagonist, Target, agonist 1188
Ethanol Approved Pharma Target 2326
Ivermectin Approved, Investigational, Vet_approved Pharma activator NAChR/purinergic P2X4 receptor modulator 70

(22) Additional Compounds for CHRNA7 Gene - From: IUPHAR and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
alpha-bungarotoxin
Antagonist
[<sup>125</sup>I]alpha-bungarotoxin
[<sup>3</sup>H]alpha-bungarotoxin
alpha-conotoxin ArIB
Antagonist
alpha-conotoxin ImI
Antagonist

(4) Tocris Compounds for CHRNA7 Gene

Compound Action Cas Number
DMAB-anabaseine dihydrochloride Partial agonist at alpha7 nAChR; also alpha4beta2 antagonist 154149-38-9
LY 2087101 Potentiator of alpha7 nAChRs 913186-74-0
PNU 282987 Selective alpha7 nAChR agonist 123464-89-1
SEN 12333 alpha7 nAChR agonist; histamine H3 antagonist 874450-44-9
genes like me logo Genes that share compounds with CHRNA7: view

Transcripts for CHRNA7 Gene

mRNA/cDNA for CHRNA7 Gene

Unigene Clusters for CHRNA7 Gene

Cholinergic receptor, nicotinic, alpha 7 (neuronal):
Representative Sequences:

Clone Products

  • R&D Systems cDNA Clones for CHRNA7 (Nicotinic Acetylcholine R alpha 7/CHRNA7)

Alternative Splicing Database (ASD) splice patterns (SP) for CHRNA7 Gene

No ASD Table

Relevant External Links for CHRNA7 Gene

GeneLoc Exon Structure for
CHRNA7
ECgene alternative splicing isoforms for
CHRNA7

Expression for CHRNA7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CHRNA7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of CHRNA7 Gene:

CHRNA7

SOURCE GeneReport for Unigene cluster for CHRNA7 Gene:

Hs.511772

Evidence on tissue expression from TISSUES for CHRNA7 Gene

  • Nervous system(4.5)
  • Stomach(4.2)
  • Skin(4.1)
  • Eye(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CHRNA7 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • face
  • head
  • skull
genes like me logo Genes that share expression patterns with CHRNA7: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for CHRNA7 Gene

Orthologs for CHRNA7 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHRNA7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHRNA7 33
  • 99.27 (n)
dog
(Canis familiaris)
Mammalia CHRNA7 34 33
  • 91.18 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 91 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Chrna7 16 34 33
  • 88.06 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 88 (a)
OneToMany
cow
(Bos Taurus)
Mammalia CHRNA7 33
  • 87.93 (n)
rat
(Rattus norvegicus)
Mammalia Chrna7 33
  • 87.59 (n)
chicken
(Gallus gallus)
Aves CHRNA7 34 33
  • 77.64 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 83 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493611 33
  • 73.6 (n)
zebrafish
(Danio rerio)
Actinopterygii CABZ01088685.1 34
  • 85 (a)
ManyToMany
CABZ01069081.1 34
  • 74 (a)
ManyToMany
chrna7 34 33 33
  • 71.53 (n)
ManyToMany
si:ch211-39a7.1 34
  • 58 (a)
ManyToMany
si:ch211-256e16.6 34
  • 21 (a)
ManyToMany
BX255960.1 34
  • 20 (a)
ManyToMany
CABZ01073083.1 34
  • 19 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta nAcRalpha-18C 35
  • 60 (a)
nAcRalpha-34E 34 35 33
  • 55.28 (n)
ManyToMany
nAcRalpha-7E 35
  • 46 (a)
nAcRalpha-96Aa 35
  • 46 (a)
nAcRalpha-30D 34 35
  • 45 (a)
ManyToMany
gfA 34
  • 43 (a)
ManyToMany
nAcRalpha-96Ab 35
  • 37 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008588 33
  • 55.21 (n)
worm
(Caenorhabditis elegans)
Secernentea acr-16 34 35 33
  • 49.21 (n)
ManyToMany
acr-11 34 35
  • 41 (a)
ManyToMany
acr-19 34 35
  • 41 (a)
ManyToMany
eat-2 34
  • 36 (a)
ManyToMany
acr-9 34 35
  • 36 (a)
ManyToMany
F18G5.4 35
  • 36 (a)
Y73F8A.30 35
  • 36 (a)
acr-15 34 35
  • 34 (a)
ManyToMany
acr-25 34
  • 33 (a)
ManyToMany
acr-7 34 35
  • 33 (a)
ManyToMany
acr-14 34 35
  • 33 (a)
ManyToMany
acr-21 34
  • 33 (a)
ManyToMany
acr-12 35
  • 33 (a)
unc-29 35
  • 33 (a)
acr-10 34 35
  • 31 (a)
ManyToMany
acr-22 35
  • 30 (a)
ZK973.5 35
  • 30 (a)
acr-8 35
  • 29 (a)
Y57G11C.2 35
  • 28 (a)
C04C3.2 35
  • 28 (a)
lgc-4 34
  • 25 (a)
ManyToMany
lgc-12 34
  • 25 (a)
ManyToMany
acr-18 34 35
  • 25 (a)
ManyToMany
deg-3 34 35
  • 25 (a)
ManyToMany
acr-17 34 35
  • 25 (a)
ManyToMany
des-2 34
  • 24 (a)
ManyToMany
lgc-11 34
  • 24 (a)
ManyToMany
lgc-8 34
  • 23 (a)
ManyToMany
acr-20 34
  • 23 (a)
ManyToMany
lgc-7 34
  • 23 (a)
ManyToMany
acr-23 34
  • 23 (a)
ManyToMany
acr-24 34
  • 23 (a)
ManyToMany
lgc-9 34
  • 23 (a)
ManyToMany
pbo-6 34
  • 22 (a)
ManyToMany
lgc-10 34
  • 21 (a)
ManyToMany
acr-5 34 35
  • 21 (a)
ManyToMany
pbo-5 34
  • 21 (a)
ManyToMany
lgc-6 34
  • 21 (a)
ManyToMany
lgc-18 34
  • 19 (a)
ManyToMany
lgc-17 34
  • 19 (a)
ManyToMany
lgc-16 34
  • 19 (a)
ManyToMany
lgc-13 34
  • 18 (a)
ManyToMany
lgc-14 34
  • 18 (a)
ManyToMany
lgc-30 34
  • 18 (a)
ManyToMany
lgc-31 34
  • 17 (a)
ManyToMany
lgc-19 34
  • 17 (a)
ManyToMany
lgc-29 34
  • 17 (a)
ManyToMany
lgc-15 34
  • 17 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
OneToMany
Species where no ortholog for CHRNA7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • wheat (Triticum aestivum)

Evolution for CHRNA7 Gene

ENSEMBL:
Gene Tree for CHRNA7 (if available)
TreeFam:
Gene Tree for CHRNA7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CHRNA7: view image

Paralogs for CHRNA7 Gene

(17) SIMAP similar genes for CHRNA7 Gene using alignment to 3 proteins:

  • ACHA7_HUMAN
  • H3BM15_HUMAN
  • Q5W554_HUMAN
genes like me logo Genes that share paralogs with CHRNA7: view

Variants for CHRNA7 Gene

Sequence variations from dbSNP and Humsavar for CHRNA7 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs749361514 uncertain-significance, not specified 32,030,931(+) A/G 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1000024280 -- 32,053,797(+) G/T genic_upstream_transcript_variant, intron_variant
rs1000028368 -- 32,136,514(+) A/C/G genic_upstream_transcript_variant, intron_variant
rs1000036085 -- 32,138,706(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000110150 -- 32,098,032(+) G/C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CHRNA7 Gene

Variant ID Type Subtype PubMed ID
dgv109e55 CNV gain 17911159
dgv11e196 CNV duplication 17116639
dgv2535n100 CNV gain 25217958
dgv2536n100 CNV gain 25217958
dgv2537n100 CNV gain 25217958
dgv2538n100 CNV loss 25217958
dgv2539n100 CNV loss 25217958
dgv2540n100 CNV loss 25217958
dgv2541n100 CNV loss 25217958
dgv2542n100 CNV loss 25217958
dgv2543n100 CNV gain 25217958
dgv2544n100 CNV gain+loss 25217958
dgv306n27 CNV gain 19166990
dgv308n27 CNV gain 19166990
dgv4440n54 CNV gain 21841781
dgv4442n54 CNV gain 21841781
dgv4444n54 CNV gain 21841781
dgv4446n54 CNV loss 21841781
dgv726e212 CNV gain 25503493
esv25982 CNV gain+loss 19812545
esv2668191 CNV deletion 23128226
esv2760023 CNV gain+loss 17122850
esv2760365 CNV gain+loss 21179565
esv2760376 CNV gain+loss 21179565
esv2761877 CNV gain+loss 21179565
esv33337 CNV gain+loss 17666407
esv3636065 CNV gain 21293372
esv3636067 CNV gain 21293372
esv3636068 CNV gain 21293372
esv3636071 CNV loss 21293372
esv3892651 CNV loss 25118596
esv3892652 CNV loss 25118596
esv3892653 CNV gain 25118596
esv3892655 CNV gain 25118596
esv3892656 CNV loss 25118596
nsv1035202 CNV gain+loss 25217958
nsv1050172 CNV gain 25217958
nsv1126391 CNV deletion 24896259
nsv1144730 CNV deletion 24896259
nsv428302 CNV gain+loss 18775914
nsv469726 CNV loss 16826518
nsv469870 CNV gain 16826518
nsv471234 CNV gain 18288195
nsv471680 CNV gain+loss 15918152
nsv471681 CNV gain+loss 15918152
nsv517740 CNV gain+loss 19592680
nsv568825 CNV gain 21841781
nsv568862 CNV gain 21841781
nsv568863 CNV loss 21841781
nsv568864 CNV loss 21841781
nsv817680 CNV gain 17921354
nsv819078 CNV loss 19587683
nsv821680 CNV gain 15273396
nsv832956 CNV gain 17160897
nsv9237 CNV gain+loss 18304495
nsv9238 CNV gain+loss 18304495

Variation tolerance for CHRNA7 Gene

Residual Variation Intolerance Score: 57.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.30; 25.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CHRNA7 Gene

Human Gene Mutation Database (HGMD)
CHRNA7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHRNA7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHRNA7 Gene

Disorders for CHRNA7 Gene

MalaCards: The human disease database

(12) MalaCards diseases for CHRNA7 Gene - From: HGMD, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
chromosome 15q13.3 deletion syndrome
  • chromosome 15q13.3 microdeletion syndrome
intermittent explosive disorder
  • explosive personality disorder
schizophrenia
  • sczd
rasmussen encephalitis
  • rasmussen syndrome
tobacco addiction
  • tobacco addiction, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CHRNA7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CHRNA7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CHRNA7 Gene

Publications for CHRNA7 Gene

  1. Association of the 5'-upstream regulatory region of the alpha7 nicotinic acetylcholine receptor subunit gene (CHRNA7) with schizophrenia. (PMID: 19181484) Stephens SH … Leonard S (Schizophrenia research 2009) 3 22 44 58
  2. APOE, ACT and CHRNA7 genes in the conversion from amnestic mild cognitive impairment to Alzheimer's disease. (PMID: 18078695) Barabash A … Cabranes JA (Neurobiology of aging 2009) 3 22 44 58
  3. Genetic variation in the alpha 7 nicotinic acetylcholine receptor is associated with delusional symptoms in Alzheimer's disease. (PMID: 18696274) Carson R … Passmore AP (Neuromolecular medicine 2008) 3 22 44 58
  4. [The transmission disequilibrium analysis between neuronal nicotinic acetylcholine receptor alpha 7 subunit gene polymorphisms and schizophrenia]. (PMID: 18393235) Peng ZZ … Jiang TY (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2008) 3 22 44 58
  5. Alpha7 nicotinic acetylcholine receptor gene and reduced risk of Alzheimer's disease. (PMID: 18057084) Carson R … Ritchie CW (Journal of medical genetics 2008) 3 22 44 58

Products for CHRNA7 Gene

Sources for CHRNA7 Gene

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