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Aliases for CHRNA2 Gene

Aliases for CHRNA2 Gene

  • Cholinergic Receptor, Nicotinic, Alpha 2 (Neuronal) 2 3
  • Cholinergic Receptor, Nicotinic, Alpha Polypeptide 2 (Neuronal) 2
  • Acetylcholine Receptor 2
  • Alpha 2 (Neuronal) 2
  • Nicotinic 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 (Neuronal)) 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 CREB Pathway and Nanog in Mammalian ESC Pluripotency. GO annotations related to this gene include acetylcholine-activated cation-selective channel activity and acetylcholine receptor activity. An important paralog of this gene is CHRNA3.

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

Genomic Location for CHRNA2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for CHRNA2 Gene at MOPED

Post-translational modifications for CHRNA2 Gene

  • Glycosylation at Asn79, Asn129, and Asn235
  • Modification sites at PhosphoSitePlus

Other Protein References for CHRNA2 Gene

No data available for DME Specific Peptides for CHRNA2 Gene

Domains for CHRNA2 Gene

Gene Families for CHRNA2 Gene

HGNC:
  • CHR :Cholinergic receptors
  • CHRN :Ligand-gated ion channels / Acetylcholine receptors, nicotinic
IUPHAR :

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 :
  • Q15822
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:0005230 extracellular ligand-gated ion channel activity --
GO:0008144 drug binding IEA --
GO:0015464 acetylcholine receptor activity IDA 8906617
GO:0042166 acetylcholine binding IEA --
genes like me logo Genes that share ontologies with CHRNA2: view

Phenotypes for CHRNA2 Gene

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

Animal Models for CHRNA2 Gene

MGI Knock Outs for CHRNA2:

miRNA for CHRNA2 Gene

miRTarBase miRNAs that target CHRNA2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 --
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 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:0006810 transport --
GO:0006811 ion transport NAS 8906617
GO:0006812 cation transport IDA 8906617
GO:0007165 signal transduction IDA 8906617
GO:0007268 synaptic transmission TAS --
genes like me logo Genes that share ontologies with CHRNA2: view

Compounds for CHRNA2 Gene

(1) HMDB Compounds for CHRNA2 Gene

Compound Synonyms Cas Number PubMed IDs
Dextromethorphan
  • Bayer Select Flu Relief
6700-34-1

(20) Drugbank Compounds for CHRNA2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Atracurium
64228-79-1 target inhibitor
Biperiden
  • Beperiden
514-65-8 target antagonist
Carbachol
51-83-2 target agonist
Cisatracurium Besylate
96946-42-8 target inhibitor
Decamethonium
156-74-1 target partial agonist

(6) IUPHAR Ligand for CHRNA2 Gene

Ligand Type Action Affinity Pubmed IDs
[125I]epibatidine None None 9.64
[3H]epibatidine None None 9.64
mecamylamine Channel blocker None 6.41
LY2087101 Allosteric regulator Positive
[3H]cytisine None None
hexamethonium Channel blocker None
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:

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 (24.7), Brain - Cortex (5.3), and Brain - Frontal Cortex (BA9) (4.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CHRNA2 Gene

SOURCE GeneReport for Unigene cluster for CHRNA2 Gene Hs.57718

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

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
chimpanzee
(Pan troglodytes)
Mammalia CHRNA2 35
  • 99.24 (n)
  • 98.87 (a)
CHRNA2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHRNA2 35
  • 87.06 (n)
  • 85.35 (a)
CHRNA2 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHRNA2 35
  • 88.08 (n)
  • 88.54 (a)
CHRNA2 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chrna2 35
  • 84.78 (n)
  • 85.97 (a)
Chrna2 16
Chrna2 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHRNA2 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chrna2 35
  • 84.23 (n)
  • 85.74 (a)
chicken
(Gallus gallus)
Aves CHRNA2 35
  • 79.96 (n)
  • 79.33 (a)
CHRNA2 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHRNA2 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chrna2 35
  • 71.8 (n)
  • 77.64 (a)
zebrafish
(Danio rerio)
Actinopterygii chrna2 35
chrna2a 36
  • 69 (a)
OneToMany
chrna2b 36
  • 64 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002972 35
  • 54.93 (n)
  • 49.57 (a)
fruit fly
(Drosophila melanogaster)
Insecta nAcRalpha-96Ab 35
  • 58.11 (n)
  • 49.56 (a)
nAcRalpha-96Aa 37
  • 58 (a)
nAcRalpha-96Ab 37
  • 57 (a)
nAcRalpha-30D 37
  • 31 (a)
nAcRbgr-96A 37
  • 45 (a)
nAcRbgr-21C 37
  • 31 (a)
nAcRalpha-80B 37
  • 39 (a)
nAcRalpha-7E 37
  • 56 (a)
nAcRbgr-64B 37
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea deg-3 37
  • 31 (a)
Y57G11C.2 37
  • 24 (a)
acr-23 37
  • 29 (a)
Y44A6E.1 37
  • 29 (a)
acr-10 37
  • 39 (a)
acr-2 37
  • 47 (a)
acr-13 37
  • 34 (a)
lev-1 37
  • 40 (a)
acr-5 37
  • 29 (a)
C04C3.2 37
  • 27 (a)
acr-7 37
  • 39 (a)
acr-15 37
  • 39 (a)
unc-63 37
  • 48 (a)
acr-3 37
  • 45 (a)
acr-12 37
  • 46 (a)
Y73F8A.30 37
  • 32 (a)
acr-18 37
  • 30 (a)
unc-29 37
  • 39 (a)
acr-11 37
  • 36 (a)
acr-9 37
  • 34 (a)
unc-38 37
  • 42 (a)
F18G5.4 37
  • 32 (a)
acr-22 37
  • 29 (a)
acr-16 37
  • 40 (a)
F11C7.1 37
  • 27 (a)
ZK973.5 37
  • 39 (a)
acr-17 37
  • 35 (a)
acr-8 37
  • 40 (a)
Species with no ortholog for CHRNA2:
  • 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 MAF
rs735421 -- 27,461,775(+) CACAC(A/G)GTGAC intron-variant
rs747111 -- 27,467,956(-) AGGGG(G/T)ACTGA intron-variant
rs891394 -- 27,462,252(+) CCAGA(C/G)AAGGG intron-variant
rs891395 -- 27,462,364(+) AGGCT(G/T)AGTAG intron-variant
rs891396 -- 27,462,367(+) CTTAG(A/T)AGAAT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv890695 CNV Gain 21882294
nsv831275 CNV Loss 17160897

Relevant External Links for CHRNA2 Gene

HapMap Linkage Disequilibrium report
CHRNA2
Human Gene Mutation Database (HGMD)
CHRNA2

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

Disorders for CHRNA2 Gene

(1) OMIM Diseases for CHRNA2 Gene (118502)

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.

(1) University of Copenhagen DISEASES for CHRNA2 Gene

(3) Novoseek inferred disease relationships for CHRNA2 Gene

Disease -log(P) Hits PubMed IDs
epilepsy frontal lobe 92.4 3
sleepwalking 80.4 1
epilepsy 34.6 2

Relevant External Links for CHRNA2

GeneTests
CHRNA2
GeneReviews
CHRNA2
Genetic Association Database (GAD)
CHRNA2
Human Genome Epidemiology (HuGE) Navigator
CHRNA2
genes like me logo Genes that share disorders with CHRNA2: view

Publications for CHRNA2 Gene

  1. 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 23
  2. 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 23 48
  3. 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 23 48
  4. 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 23 48
  5. 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 23 48

Products for CHRNA2 Gene

Sources for CHRNA2 Gene

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