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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 3
  • Acetylcholine Receptor, Nicotinic, Alpha 2 (Neuronal) 2 3
  • Cholinergic Receptor, Nicotinic, Alpha 2 (Neuronal) 2 3
  • Neuronal Acetylcholine Receptor Subunit Alpha-2 3 4
  • Cholinergic Receptor, Nicotinic Alpha 2 2 3

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, 4 and Autosomal Dominant Nocturnal Frontal Lobe Epilepsy. Among its related pathways are CREB Pathway and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include drug binding. 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

Additional gene information for CHRNA2 Gene

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

Genomics for CHRNA2 Gene

GeneHancer (GH) Regulatory Elements for CHRNA2 Gene

Promoters and enhancers for CHRNA2 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
GH08J027479 Promoter/Enhancer 1.2 EPDnew Ensembl 610.1 +0.6 555 3.5 RXRA ZIC2 GATAD2A REST ZSCAN4 SP1 MCM3 EHMT2 RAD21 ZNF366 CHRNA2 EPHX2 ZNF395 PIR51886 GC08P027438
GH08J027594 Enhancer 1.3 Ensembl ENCODE dbSUPER 17.8 -116.1 -116083 3.3 ELF3 CTCF POLR2A CEBPG SP1 HNF1A SP5 ZNF644 RAD21 KAT8 CHRNA2 EPHX2 GULOP MIR6843 CLU
GH08J027330 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 9.9 +146.2 146184 6.2 CC2D1A ELF3 CBFA2T2 ZNF148 MLLT1 CEBPG RERE CSDE1 SP7 TRIM24 PTK2B TRIM35 EPHX2 CLU CHRNA2 MIR6842
GH08J027397 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.6 +72.3 72282 16.4 SP1 CREM IKZF1 CREB1 IKZF2 ZNF512 REST PKNOX1 DPF2 EED PTK2B EPHX2 TRIM35 CHRNA2 CLU STMN4 MIR6842
GH08J027321 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 10.3 +156.6 156616 2.7 CC2D1A CTCF ZNF148 NKRF MLLT1 CEBPG RERE SP1 HNF1A SP5 EPHX2 CLU CHRNA2 TRIM35 PTK2B MIR6842
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHRNA2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CHRNA2 gene promoter:
  • GR
  • GR-alpha
  • GR-beta
  • NF-kappaB
  • NF-kappaB1
  • PPAR-alpha

Genomic Locations for CHRNA2 Gene

Genomic Locations for CHRNA2 Gene
chr8:27,459,756-27,479,883
(GRCh38/hg38)
Size:
20,128 bases
Orientation:
Minus strand
chr8:27,317,278-27,337,400
(GRCh37/hg19)
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. The alpha-2:beta-2 nAChR complex is proposed to be a heteropentamer with two subtypes: LS (low agonist sensitivity) with a (alpha-2)3:(beta-2)2 and HS (high agonist sensitivity) with a (alpha-2)2:(beta-2)3 stoichiometry; the subtypes differ in their subunit binding interfaces which are involved in ligand binding.

    Three dimensional structures from OCA and Proteopedia for CHRNA2 Gene

    Alternative splice isoforms for CHRNA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHRNA2 Gene

Post-translational modifications for CHRNA2 Gene

  • Glycosylation at isoforms=2129, posLast=7979, and isoforms=2235
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CHRNA2 Gene

Domains & Families for CHRNA2 Gene

Gene Families for CHRNA2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for CHRNA2 Gene

GenScript: Design optimal peptide antigens:
  • Neuronal acetylcholine receptor subunit alpha-2 (ACHA2_HUMAN)

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

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

Phenotypes From GWAS Catalog for CHRNA2 Gene

Gene Ontology (GO) - Molecular Function for CHRNA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005230 contributes_to extracellular ligand-gated ion channel activity IBA,IEA 21873635
GO:0008144 drug binding IEA --
GO:0015464 acetylcholine receptor activity IDA 8906617
GO:0022848 acetylcholine-gated cation-selective channel activity IDA 8906617
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

Clone Products

  • Applied Biological Materials (abm): Clones for CHRNA2 - Now 50% OFF >
  • * CHRNA2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * CHRNA2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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
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 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:0005887 integral component of plasma membrane IBA 21873635
GO:0005892 acetylcholine-gated channel complex IDA 8906617
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,NAS 8906617
genes like me logo Genes that share ontologies with CHRNA2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CHRNA2 Gene

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 IEA,NAS 8906617
GO:0007165 signal transduction IDA,IBA 8906617
GO:0007268 chemical synaptic transmission IBA 21873635
GO:0034220 ion transmembrane transport IBA,IEA 21873635
GO:0042391 regulation of membrane potential IBA 21873635
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mecamylamine Approved, Investigational Pharma Channel blocker, Target, antagonist 28
Biperiden Approved, Investigational Pharma Target, antagonist Anticholinergic drug 6
Decamethonium Approved Pharma Target, partial agonist, antagonist 0
Gallamine Triethiodide Approved Pharma Target, antagonist 0
Metocurine Approved Pharma Target, antagonist 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

Drug Products

Transcripts for CHRNA2 Gene

mRNA/cDNA for CHRNA2 Gene

(6) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(11) Selected AceView cDNA sequences:
(13) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for CHRNA2 Gene

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

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for CHRNA2 - Now 50% OFF >
  • * CHRNA2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * CHRNA2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 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

Evidence on tissue expression from TISSUES for CHRNA2 Gene

  • Nervous system(4.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CHRNA2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • head
genes like me logo Genes that share expression patterns 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 34
  • 99.24 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CHRNA2 35 34
  • 88.08 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CHRNA2 35 34
  • 87.06 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Chrna2 17 35 34
  • 84.78 (n)
rat
(Rattus norvegicus)
Mammalia Chrna2 34
  • 84.23 (n)
oppossum
(Monodelphis domestica)
Mammalia CHRNA2 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHRNA2 35 34
  • 79.96 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHRNA2 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chrna2 34
  • 71.8 (n)
zebrafish
(Danio rerio)
Actinopterygii chrna2a 35
  • 69 (a)
OneToMany
chrna2b 35
  • 64 (a)
OneToMany
chrna2 34
fruit fly
(Drosophila melanogaster)
Insecta nAcRalpha-96Ab 36 34
  • 58.11 (n)
nAcRalpha-96Aa 36
  • 58 (a)
nAcRalpha-7E 36
  • 56 (a)
nAcR&bgr;-64B 36
  • 46 (a)
nAcR&bgr;-96A 36
  • 45 (a)
nAcRalpha-80B 36
  • 39 (a)
nAcRalpha-30D 36
  • 31 (a)
nAcR&bgr;-21C 36
  • 31 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002972 34
  • 54.93 (n)
worm
(Caenorhabditis elegans)
Secernentea unc-63 36
  • 48 (a)
acr-2 36
  • 47 (a)
acr-12 36
  • 46 (a)
acr-3 36
  • 45 (a)
unc-38 36
  • 42 (a)
acr-8 36
  • 40 (a)
acr-16 36
  • 40 (a)
lev-1 36
  • 40 (a)
acr-15 36
  • 39 (a)
unc-29 36
  • 39 (a)
ZK973.5 36
  • 39 (a)
acr-7 36
  • 39 (a)
acr-10 36
  • 39 (a)
acr-11 36
  • 36 (a)
acr-17 36
  • 35 (a)
acr-13 36
  • 34 (a)
acr-9 36
  • 34 (a)
F18G5.4 36
  • 32 (a)
Y73F8A.30 36
  • 32 (a)
deg-3 36
  • 31 (a)
acr-18 36
  • 30 (a)
acr-5 36
  • 29 (a)
acr-22 36
  • 29 (a)
acr-23 36
  • 29 (a)
Y44A6E.1 36
  • 29 (a)
C04C3.2 36
  • 27 (a)
F11C7.1 36
  • 27 (a)
Y57G11C.2 36
  • 24 (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)
Aminode:
Evolutionary constrained regions (ECRs) for CHRNA2: view image

Paralogs for CHRNA2 Gene

(19) SIMAP similar genes for CHRNA2 Gene using alignment to 7 proteins:

  • ACHA2_HUMAN
  • E5RGP6_HUMAN
  • E5RGT4_HUMAN
  • E5RHQ4_HUMAN
  • E5RJ54_HUMAN
  • E5RK67_HUMAN
  • J3KMY9_HUMAN
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 Variation AA Info Type
rs1012797739 uncertain-significance, Autosomal dominant nocturnal frontal lobe epilepsy 27,461,703(-) A/T coding_sequence_variant, missense_variant
rs1018084204 pathogenic, Seizures, benign familial infantile, 6, Seizures, benign familial infantile, 6 (BFIS6) [MIM:610353] 27,463,317(-) G/A coding_sequence_variant, missense_variant
rs104894063 pathogenic, Epilepsy, nocturnal frontal lobe, type 4, Epilepsy, nocturnal frontal lobe, 4 (ENFL4) [MIM:610353] 27,463,607(-) A/T coding_sequence_variant, missense_variant
rs1057137 benign, Nocturnal frontal lobe epilepsy 27,459,928(-) G/A/T 3_prime_UTR_variant
rs1060503072 uncertain-significance, Autosomal dominant nocturnal frontal lobe epilepsy 27,463,263(-) G/A coding_sequence_variant, missense_variant

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)

Additional Variant Information for CHRNA2 Gene

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

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

Disorders for CHRNA2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for CHRNA2 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, nocturnal frontal lobe, 4
  • enfl4
autosomal dominant nocturnal frontal lobe epilepsy
  • epilepsy, nocturnal frontal lobe, 1
epilepsy
  • epilepsy syndrome
epilepsy, nocturnal frontal lobe, 1
  • enfl1
benign familial infantile epilepsy
  • benign familial infantile convulsion
- 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.
  • Seizures, benign familial infantile, 6 (BFIS6) [MIM:610353]: A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS6 inheritance is autosomal dominant. {ECO:0000269 PubMed:25847220}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CHRNA2

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 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 ML (Sleep medicine 2009) 3 23 45 58
  2. A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy. (PMID: 19058950) Chen Y … Xu Q (Epilepsy research 2009) 3 23 45 58
  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, and behavior 2008) 3 23 45 58
  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 OK (Neuroscience letters 2007) 3 23 45 58
  5. Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. (PMID: 16826524) Aridon P … Casari G (American journal of human genetics 2006) 3 4 23 58

Products for CHRNA2 Gene

Sources for CHRNA2 Gene

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