CHRNA2
entrez
1135
canonical
uniprot
Q15822
canonical
ensembl
ENSG00000120903
resolver
ensp
ENSP00000240132
resolver
ensp
ENSP00000385026
resolver
genesymbol
CHRNA2
resolver
hgnc
HGNC:1956
resolver
uniprot
A8KAX3
resolver
uniprot
B4DK19
resolver
uniprot
J3KMY9
resolver
uniprot
Q9HAQ3
resolver
uniprot_entry
ACHA2_HUMAN
resolver
uniprot_sec
A8KAX3
resolver
uniprot_sec
B4DK19
resolver
uniprot_sec
J3KMY9
resolver
uniprot_sec
Q9HAQ3
resolver
amino_acid_sequence
MGPSCPVFLSFTKLSLWWLLLTPAGGEEAKRPPPRAPGDPLSSPSPTALPQGGSHTETEDRLFKHLFRGYNRWARPVPNTSDVVIVRFGLSIAQLIDVDEKNQMMTTNVWLKQEWSDYKLRWNPTDFGNITSLRVPSEMIWIPDIVLYNNADGEFAVTHMTKAHLFSTGTVHWVPPAIYKSSCSIDVTFFPFDQQNCKMKFGSWTYDKAKIDLEQMEQTVDLKDYWESGEWAIVNATGTYNSKKYDCCAEIYPDVTYAFVIRRLPLFYTINLIIPCLLISCLTVLVFYLPSDCGEKITLCISVLLSLTVFLLLITEIIPSTSLVIPLIGEYLLFTMIFVTLSIVITVFVLNVHHRSPSTHTMPHWVRGALLGCVPRWLLMNRPPPPVELCHPLRLKLSPSYHWLESNVDAEEREVVVEEEDRWACAGHVAPSVGTLCSHGHLHSGASGPKAEALLQEGELLLSPHMQKALEGVHYIADHLRSEDADSSVKEDWKYVAMVIDRIFLWLFIIVCFLGTIGLFLPPFLAGMI
uniprot
proteins
disease_involvement
DISEASE: 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 variants affecting the gene represented in this entry.; DISEASE: 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nAChR subunits known to mediate synaptic transmission in the nervous system and the neuromuscular junction. Each nAchR subunit confers differential attributes to channel properties, including activation, deactivation and desensitization kinetics, pH sensitivity, cation permeability, and binding to allosteric modulators (PubMed:18723036). CHRNA2 forms heteropentameric neuronal acetylcholine receptors with CHRNB2 and CHRNB4 and plays a role in nicotine dependence (PubMed:24467848, PubMed:27493220). {ECO:0000269|PubMed:24467848, ECO:0000269|PubMed:27493220, ECO:0000303|PubMed:18723036}.
uniprot
proteins
mass_dalton
59765
uniprot
proteins
mutagenesis
MUTAGEN 115; /note="W->A: Changes ligand activation kinetics in a alpha-2(+):alpha-2(-) subunit interface (in LS nAChR subtype)."; /evidence="ECO:0000269|PubMed:27493220"; MUTAGEN 225; /note="Y->F: Decreases ligand activation in LS nAChR subtype; no effect in HS nAChR subtype."; /evidence="ECO:0000269|PubMed:27493220
uniprot
proteins
protein_family
Acetylcholine receptor (TC 1.A.9.1) subfamily
uniprot
proteins
protein_family
Alpha-2/CHRNA2 sub-subfamily
uniprot
proteins
protein_family
Ligand-gated ion channel (TC 1.A.9) family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
16826524
uniprot
proteins
pubmed
18723036
uniprot
proteins
pubmed
24467848
uniprot
proteins
pubmed
25847220
uniprot
proteins
pubmed
27493220
uniprot
proteins
pubmed
8906617
uniprot
proteins
sequence_length
529
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Synaptic cell membrane {ECO:0000303|PubMed:18723036}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000303|PubMed:18723036}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 265..289; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 297..315; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 331..352; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 503..521; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins