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Aliases for CHRNA2 Gene

Aliases for CHRNA2 Gene

  • Cholinergic Receptor Nicotinic Alpha 2 Subunit 2 3 5
  • Cholinergic Receptor, Nicotinic, Alpha Polypeptide 2 (Neuronal) 2
  • Acetylcholine Receptor, Nicotinic, Alpha 2 (Neuronal) 2
  • Cholinergic Receptor, Nicotinic, Alpha 2 (Neuronal) 2
  • Cholinergic Receptor, Nicotinic Alpha 2 2

External Ids for CHRNA2 Gene

Previous GeneCards Identifiers for CHRNA2 Gene

  • GC08M027100
  • GC08M027823
  • GC08M027340
  • GC08M025862
  • GC08M027317

Summaries for CHRNA2 Gene

Entrez Gene Summary for CHRNA2 Gene

  • Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of alpha and beta subunits to create distinct muscle and neuronal receptors. Neuronal receptors are found throughout the peripheral and central nervous system where they are involved in fast synaptic transmission. This gene encodes an alpha subunit that is widely expressed in the brain. The proposed structure for nAChR subunits 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. Mutations in this gene cause autosomal dominant nocturnal frontal lobe epilepsy type 4. Single nucleotide polymorphisms (SNPs) in this gene have been associated with nicotine dependence. [provided by RefSeq, Nov 2009]

GeneCards Summary for CHRNA2 Gene

CHRNA2 (Cholinergic Receptor Nicotinic Alpha 2 Subunit) is a Protein Coding gene. Diseases associated with CHRNA2 include Epilepsy, Nocturnal Frontal Lobe, Type 4 and Chrna2-Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant. Among its related pathways are Peptide ligand-binding receptors and Acetylcholine Binding And Downstream Events. GO annotations related to this gene include drug binding and acetylcholine-activated cation-selective channel activity. An important paralog of this gene is CHRNA4.

UniProtKB/Swiss-Prot for CHRNA2 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.

Gene Wiki entry for CHRNA2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHRNA2 Gene

Genomics for CHRNA2 Gene

Regulatory Elements for CHRNA2 Gene

Enhancers for CHRNA2 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 CHRNA2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CHRNA2 Gene

Chromosome:
8
Start:
27,459,761 bp from pter
End:
27,479,883 bp from pter
Size:
20,123 bases
Orientation:
Minus strand

Genomic View for CHRNA2 Gene

Genes around CHRNA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHRNA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHRNA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHRNA2 Gene

Proteins for CHRNA2 Gene

  • Protein details for CHRNA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15822-ACHA2_HUMAN
    Recommended name:
    Neuronal acetylcholine receptor subunit alpha-2
    Protein Accession:
    Q15822
    Secondary Accessions:
    • A8KAX3
    • B4DK19
    • J3KMY9
    • Q9HAQ3

    Protein attributes for CHRNA2 Gene

    Size:
    529 amino acids
    Molecular mass:
    59765 Da
    Quaternary structure:
    • Neuronal AChR seems to be composed of two different types of subunits: alpha and non-alpha (beta). Alpha-2 subunit can be combined to beta-2 or beta-4 to give rise to functional receptors.

    Alternative splice isoforms for CHRNA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHRNA2 Gene

Post-translational modifications for CHRNA2 Gene

  • Glycosylation at Asn 79, Asn 129, and Asn 235
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CHRNA2 Gene

Domains & Families for CHRNA2 Gene

Gene Families for CHRNA2 Gene

Suggested Antigen Peptide Sequences for CHRNA2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15822

UniProtKB/Swiss-Prot:

ACHA2_HUMAN :
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-2/CHRNA2 sub-subfamily.
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-2/CHRNA2 sub-subfamily.
genes like me logo Genes that share domains with CHRNA2: view

Function for CHRNA2 Gene

Molecular function for CHRNA2 Gene

GENATLAS Biochemistry:
cholinergic receptor,nicotinic,alpha 2 polypeptide,neuronal
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.

Gene Ontology (GO) - Molecular Function for CHRNA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004889 acetylcholine-activated cation-selective channel activity IDA 8906617
GO:0008144 drug binding IEA --
GO:0015276 ligand-gated ion channel activity TAS --
GO:0015464 acetylcholine receptor activity IDA 8906617
GO:0042166 contributes_to acetylcholine binding IBA --
genes like me logo Genes that share ontologies with CHRNA2: view
genes like me logo Genes that share phenotypes with CHRNA2: view

Human Phenotype Ontology for CHRNA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CHRNA2 Gene

MGI Knock Outs for CHRNA2:

Animal Model Products

  • Taconic Biosciences Mouse Models for CHRNA2

CRISPR Products

miRNA for CHRNA2 Gene

miRTarBase miRNAs that target CHRNA2

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for CHRNA2 (Nicotinic Acetylcholine R alpha 2/CHRNA2)

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CHRNA2 Gene

Localization for CHRNA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHRNA2 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHRNA2 Gene COMPARTMENTS Subcellular localization image for CHRNA2 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for CHRNA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005892 acetylcholine-gated channel complex IDA 8906617
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 8906617
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with CHRNA2: view

Pathways & Interactions for CHRNA2 Gene

genes like me logo Genes that share pathways with CHRNA2: view

Gene Ontology (GO) - Biological Process for CHRNA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport NAS 8906617
GO:0007165 signal transduction IDA 8906617
GO:0007271 synaptic transmission, cholinergic IBA --
GO:0007274 neuromuscular synaptic transmission IBA --
GO:0035094 response to nicotine IBA --
genes like me logo Genes that share ontologies with CHRNA2: view

No data available for SIGNOR curated interactions for CHRNA2 Gene

Drugs & Compounds for CHRNA2 Gene

(30) Drugs for CHRNA2 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Doxacurium chloride Approved Pharma antagonist, Target 0
Mecamylamine Approved Pharma Channel blocker, antagonist, Target, inhibitor 25
Biperiden Approved Pharma antagonist, Target Anticholinergic drug 6
Carbachol Approved Pharma Full agonist, Agonist, antagonist, Target, agonist 3
Cisatracurium Besylate Approved Pharma antagonist, Target, inhibitor Neuromuscular-blocking drug 0

(1) ApexBio Compounds for CHRNA2 Gene

Compound Action Cas Number
SIB 1508Y maleate 192231-16-6
genes like me logo Genes that share compounds with CHRNA2: view

Transcripts for CHRNA2 Gene

mRNA/cDNA for CHRNA2 Gene

Unigene Clusters for CHRNA2 Gene

Cholinergic receptor, nicotinic, alpha 2 (neuronal):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for CHRNA2 (Nicotinic Acetylcholine R alpha 2/CHRNA2)

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHRNA2 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b
SP1: - - -
SP2: -
SP3: - - -
SP4: - - - - -
SP5: - - - - -
SP6:
SP7: -
SP8:

Relevant External Links for CHRNA2 Gene

GeneLoc Exon Structure for
CHRNA2
ECgene alternative splicing isoforms for
CHRNA2

Expression for CHRNA2 Gene

mRNA expression in normal human tissues for CHRNA2 Gene

mRNA differential expression in normal tissues according to GTEx for CHRNA2 Gene

This gene is overexpressed in Prostate (x24.7), Brain - Cortex (x5.3), and Brain - Frontal Cortex (BA9) (x4.8).

Protein differential expression in normal tissues from HIPED for CHRNA2 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CHRNA2 Gene



Protein tissue co-expression partners for CHRNA2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CHRNA2 Gene:

CHRNA2

SOURCE GeneReport for Unigene cluster for CHRNA2 Gene:

Hs.57718
genes like me logo Genes that share expression patterns with CHRNA2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for CHRNA2 Gene

Orthologs for CHRNA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHRNA2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CHRNA2 34
  • 87.06 (n)
  • 85.35 (a)
CHRNA2 35
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHRNA2 34
  • 88.08 (n)
  • 88.54 (a)
CHRNA2 35
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chrna2 34
  • 84.78 (n)
  • 85.97 (a)
Chrna2 16
Chrna2 35
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CHRNA2 34
  • 99.24 (n)
  • 98.87 (a)
CHRNA2 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chrna2 34
  • 84.23 (n)
  • 85.74 (a)
oppossum
(Monodelphis domestica)
Mammalia CHRNA2 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHRNA2 34
  • 79.96 (n)
  • 79.33 (a)
CHRNA2 35
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHRNA2 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chrna2 34
  • 71.8 (n)
  • 77.64 (a)
zebrafish
(Danio rerio)
Actinopterygii chrna2 34
chrna2a 35
  • 69 (a)
OneToMany
chrna2b 35
  • 64 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta nAcRalpha-30D 36
  • 31 (a)
nAcRalpha-7E 36
  • 56 (a)
nAcRalpha-80B 36
  • 39 (a)
nAcRalpha-96Aa 36
  • 58 (a)
nAcRalpha-96Ab 36
  • 57 (a)
nAcRbgr-21C 36
  • 31 (a)
nAcRbgr-64B 36
  • 46 (a)
nAcRbgr-96A 36
  • 45 (a)
nAcRalpha-96Ab 34
  • 58.11 (n)
  • 49.56 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002972 34
  • 54.93 (n)
  • 49.57 (a)
worm
(Caenorhabditis elegans)
Secernentea acr-10 36
  • 39 (a)
acr-11 36
  • 36 (a)
acr-12 36
  • 46 (a)
acr-13 36
  • 34 (a)
acr-15 36
  • 39 (a)
acr-16 36
  • 40 (a)
acr-17 36
  • 35 (a)
acr-18 36
  • 30 (a)
acr-2 36
  • 47 (a)
acr-22 36
  • 29 (a)
acr-23 36
  • 29 (a)
acr-3 36
  • 45 (a)
acr-5 36
  • 29 (a)
acr-7 36
  • 39 (a)
acr-8 36
  • 40 (a)
acr-9 36
  • 34 (a)
C04C3.2 36
  • 27 (a)
deg-3 36
  • 31 (a)
F11C7.1 36
  • 27 (a)
F18G5.4 36
  • 32 (a)
lev-1 36
  • 40 (a)
unc-29 36
  • 39 (a)
unc-38 36
  • 42 (a)
unc-63 36
  • 48 (a)
Y44A6E.1 36
  • 29 (a)
Y57G11C.2 36
  • 24 (a)
Y73F8A.30 36
  • 32 (a)
ZK973.5 36
  • 39 (a)
Species where no ortholog for CHRNA2 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 CHRNA2 Gene

ENSEMBL:
Gene Tree for CHRNA2 (if available)
TreeFam:
Gene Tree for CHRNA2 (if available)

Paralogs for CHRNA2 Gene

genes like me logo Genes that share paralogs with CHRNA2: view

Variants for CHRNA2 Gene

Sequence variations from dbSNP and Humsavar for CHRNA2 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs2472553 - 27,470,994(-) TCTGA(C/T)CCCAG upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs891398 - 27,467,305(+) ATCAG(C/T)GGGGT reference, missense, utr-variant-5-prime
rs104894063 Epilepsy, nocturnal frontal lobe, 4 (ENFL4) 27,463,607(-) GCTCA(A/T)CTCCT reference, missense
rs1001279 -- 27,466,026(+) GCCAC(A/G)TGTAC intron-variant
rs1057137 -- 27,459,928(-) GCAGC(A/C)CCCAG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CHRNA2 Gene

Variant ID Type Subtype PubMed ID
nsv1020582 CNV gain 25217958
nsv831275 CNV loss 17160897

Variation tolerance for CHRNA2 Gene

Residual Variation Intolerance Score: 8.77% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.28; 25.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHRNA2 Gene

Human Gene Mutation Database (HGMD)
CHRNA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHRNA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHRNA2 Gene

Disorders for CHRNA2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for CHRNA2 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, nocturnal frontal lobe, type 4
  • epilepsy, nocturnal frontal lobe, 4
chrna2-related nocturnal frontal lobe epilepsy, autosomal dominant
  • adnfle type 4
frontal lobe epilepsy
  • epilepsy frontal lobe
autosomal dominant nocturnal frontal lobe epilepsy
  • adnfle
focal epilepsy
  • localisation-related epilepsy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ACHA2_HUMAN
  • Epilepsy, nocturnal frontal lobe, 4 (ENFL4) [MIM:610353]: An autosomal dominant focal epilepsy characterized by nocturnal seizures associated with fear sensation, tongue movements, and nocturnal wandering, closely resembling nightmares and sleep walking. {ECO:0000269 PubMed:16826524}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CHRNA2

Genetic Association Database (GAD)
CHRNA2
Human Genome Epidemiology (HuGE) Navigator
CHRNA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHRNA2
genes like me logo Genes that share disorders with CHRNA2: view

No data available for Genatlas for CHRNA2 Gene

Publications for CHRNA2 Gene

  1. CHRNA2 mutations are rare in the NFLE population: evaluation of a large cohort of Italian patients. (PMID: 18226955) Combi R. … Tenchini M.L. (Sleep Med. 2009) 3 22 46 65
  2. A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy. (PMID: 19058950) Chen Y. … Xu Q. (Epilepsy Res. 2009) 3 22 46 65
  3. Why do young women smoke? V. Role of direct and interactive effects of nicotinic cholinergic receptor gene variation on neurocognitive function. (PMID: 17559419) Rigbi A. … Lerer B. (Genes Brain Behav. 2008) 3 22 46 65
  4. A major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikely. (PMID: 17602836) Gu W. … Steinlein O.K. (Neurosci. Lett. 2007) 3 22 46 65
  5. Increased sensitivity of the neuronal nicotinic receptor alpha2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. (PMID: 16826524) Aridon P. … Casari G. (Am. J. Hum. Genet. 2006) 3 4 22 65

Products for CHRNA2 Gene

Sources for CHRNA2 Gene

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