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CHRNB2 (cholinergic receptor nicotinic beta 2 subunit)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1141
Gene nameGene Name - the full gene name approved by the HGNC.
Cholinergic receptor nicotinic beta 2 subunit
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CHRNB2
SynonymsGene synonyms aliases
EFNL3, nAChRB2
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q21.3
SummarySummary of gene provided in NCBI Entrez Gene.
Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in r
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs2072661 G>A Drug-response Non coding transcript variant, 3 prime UTR variant
rs74315291 G>A,C,T Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs112585933 G>A Benign-likely-benign, conflicting-interpretations-of-pathogenicity Non coding transcript variant, missense variant, coding sequence variant
rs144813907 C>G,T Conflicting-interpretations-of-pathogenicity, benign Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs190374968 G>A,C,T Benign, conflicting-interpretations-of-pathogenicity Intron variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT496823 hsa-miR-6873-5p PAR-CLIP 22291592
MIRT496822 hsa-miR-4292 PAR-CLIP 22291592
MIRT496821 hsa-miR-6791-5p PAR-CLIP 22291592
MIRT496820 hsa-miR-3192-5p PAR-CLIP 22291592
MIRT496819 hsa-miR-1291 PAR-CLIP 22291592
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001666 Process Response to hypoxia IDA 12189247
GO:0005515 Function Protein binding IPI 8663494, 27344019, 29720657
GO:0005886 Component Plasma membrane TAS
GO:0005887 Component Integral component of plasma membrane IBA 21873635
GO:0005892 Component Acetylcholine-gated channel complex IDA 8906617
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P17787
Protein name Neuronal acetylcholine receptor subunit beta-2
Protein 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 nA
PDB 2K58 , 2K59 , 2KSR , 2LM2 , 5KXI , 6CNJ , 6CNK , 6UR8 , 6USF , 8SSZ , 8ST0 , 8ST1 , 8ST2 , 8ST3 , 8ST4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02931 Neur_chan_LBD
29 234
Neurotransmitter-gated ion-channel ligand binding domain
Family
PF02932 Neur_chan_memb
241 478
Neurotransmitter-gated ion-channel transmembrane region
Family
Sequence
Sequence length 502
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Neuroactive ligand-receptor interaction
Cholinergic synapse
Nicotine addiction
Chemical carcinogenesis - receptor activation
  Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
Highly calcium permeable nicotinic acetylcholine receptors
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Alzheimer disease Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316 17192785
Attention deficit hyperactivity disorder Attention Deficit Disorder, Attention deficit hyperactivity disorder rs120074176, rs786205019 21748252
Autism Autistic Disorder rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634 15046869
Epilepsy Epilepsy, Frontal Lobe, Frontal Epilepsy, Benign, Childhood, Epilepsy, Supplementary Motor, Epilepsy, Cingulate, Epilepsy, Opercular, Epilepsy, Anterior Fronto-Polar, Epilepsy, Orbito-Frontal, Epilepsy, Nocturnal Frontal Lobe, Type 4, Epilepsy, Nocturnal Frontal Lobe, Type 3 rs113994140, rs119454947, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs1805032, rs387906420, rs121917752, rs121918622, rs121434579, rs1581220270, rs281865564, rs387907313, rs397514564, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777363, rs587777364, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs1554169267, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532 14996991, 11094099, 11062464, 11104662
Unknown
Disease name Disease term dbSNP ID References
Anxiety disorder Anxiety Disorders, Anxiety States, Neurotic 23419392
Dysmorphic features Dysmorphic features 28600779
Minimal brain dysfunction Minimal Brain Dysfunction 21748252
Senile dementia Presenile dementia, Acute Confusional Senile Dementia 17192785

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