CHRNB2 (cholinergic receptor nicotinic beta 2 subunit)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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1141 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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CHRNB2 |
SynonymsGene synonyms aliases
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EFNL3, nAChRB2 |
ChromosomeChromosome number
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1 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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1q21.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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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 |
rs202079239 |
C>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, missense variant, coding sequence variant |
rs281865069 |
C>G |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs281865070 |
T>C |
Pathogenic, likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs281865071 |
C>G,T |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, synonymous variant |
rs281865072 |
T>A,G |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs767533378 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, coding sequence variant, synonymous variant |
rs796052329 |
CAA>- |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, inframe deletion, non coding transcript variant, 5 prime UTR variant |
rs1064796396 |
G>C |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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
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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 |
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Sequence |
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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.
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Associated diseases
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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 |
Nocturnal epilepsy |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
rs74315291, rs121909580, rs28931591, rs104894063, rs397515405, rs397515406, rs397515407, rs281865067, rs281865070, rs397518459, rs201740530, rs886037653, rs587777264, rs797044544, rs1554771469, rs1554514507, rs1588385233, rs2092986219 |
11062464 |
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
18762859, 16636791 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Anxiety disorder |
Anxiety Disorders, Anxiety States, Neurotic |
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23419392 |
Dysmorphic features |
Dysmorphic features |
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28600779 |
Minimal brain dysfunction |
Minimal Brain Dysfunction |
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21748252 |
Senile dementia |
Presenile dementia, Acute Confusional Senile Dementia |
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17192785 |
Short sleeper syndromes |
Short Sleeper Syndrome |
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12228730 |
Sleep disorders |
Sleep Disorders |
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12228730 |
Sleep wake disorders |
Sleep Wake Disorders |
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12228730 |
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