GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2) - Rat Genome Database

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Gene: GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2) Homo sapiens
Analyze
Symbol: GABRB2
Name: gamma-aminobutyric acid type A receptor subunit beta2
RGD ID: 735355
HGNC Page HGNC:4082
Description: Contributes to GABA receptor activity and GABA-gated chloride ion channel activity. Involved in chloride transmembrane transport; gamma-aminobutyric acid signaling pathway; and inhibitory synapse assembly. Located in plasma membrane. Part of GABA-A receptor complex. Is active in dendritic spine and postsynaptic membrane. Implicated in autistic disorder and developmental and epileptic encephalopathy 92.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DEE92; GABA(A) receptor subunit beta-2; GABA(A) receptor, beta 2; GABAAR subunit beta-2; gamma-aminobutyric acid (GABA) A receptor, beta 2; gamma-aminobutyric acid A receptor beta 2; gamma-aminobutyric acid receptor subunit beta-2; gamma-aminobutyric acid type A receptor beta2 subunit; ICEE2; MGC119386; MGC119388; MGC119389
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385161,288,436 - 161,548,404 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5161,288,429 - 161,549,044 (-)EnsemblGRCh38hg38GRCh38
GRCh375160,715,443 - 160,975,410 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365160,648,014 - 160,907,708 (-)NCBINCBI36Build 36hg18NCBI36
Build 345160,653,448 - 160,907,708NCBI
Celera5156,747,290 - 157,006,998 (-)NCBICelera
Cytogenetic Map5q34NCBI
HuRef5155,807,898 - 156,067,549 (-)NCBIHuRef
CHM1_15160,147,827 - 160,407,563 (-)NCBICHM1_1
T2T-CHM13v2.05161,817,252 - 162,077,933 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model



  
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Original Reference(s)
GABRB2Humanautistic disorder  IAGP 6480256DNA:SNP: :RS2617503 and RS12187676 (human)RGD 
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GABRB2Humanamenorrhea  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Primary amenorrheaClinVarPMID:21681106
GABRB2HumanCerebral Visual Impairment and Intellectual Disability  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disabilityClinVarPMID:26350515 and PMID:39825153
GABRB2Humandevelopmental and epileptic encephalopathy 92  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 92ClinVarPMID:27789573
GABRB2Humandevelopmental and epileptic encephalopathy 92  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 92ClinVarPMID:26350515 and PMID:39825153
GABRB2Humandevelopmental and epileptic encephalopathy 92  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 92ClinVar 
GABRB2Humandevelopmental and epileptic encephalopathy 92  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 92ClinVarPMID:25741868 and PMID:28492532
GABRB2Humandevelopmental and epileptic encephalopathy 92  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 92ClinVarPMID:28492532 and PMID:29100083
GABRB2Humandevelopmental and epileptic encephalopathy 92  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 92ClinVarPMID:29100083
GABRB2Humandevelopmental and epileptic encephalopathy 92  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 92ClinVarPMID:25741868 more ...
GABRB2Humandevelopmental and epileptic encephalopathy 92  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 92ClinVarPMID:25741868 and PMID:29100083
GABRB2Humandevelopmental and epileptic encephalopathy 92  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 92ClinVarPMID:25741868 more ...
GABRB2Humandevelopmental and epileptic encephalopathy 92  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 92ClinVarPMID:25741868
GABRB2Humandevelopmental and epileptic encephalopathy 92  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 92ClinVarPMID:25124326
GABRB2Humandevelopmental and epileptic encephalopathy 92  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 92ClinVarPMID:25741868 more ...
GABRB2Humanepilepsy  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: SeizureClinVarPMID:25741868 more ...
GABRB2Humanepilepsy  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: SeizureClinVarPMID:25741868
GABRB2Humangenetic disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:28492532
GABRB2Humangenetic disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 
GABRB2Humangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:28492532 more ...
GABRB2Humangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:28492532 more ...
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GABRB2Humanepilepsy  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:29942082
GABRB2HumanNeurodevelopmental Disorders  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:29942082
GABRB2Humanschizophrenia  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:18583979
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GABRB2Humandevelopmental and epileptic encephalopathy 92  IAGP 7240710 OMIM 

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GABRB2Human(+)-beta-thujone multiple interactionsEXP 6480464beta-thujone inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB2 protein binds to GABRG2 protein]]CTDPMID:15588619
GABRB2Human(+)-isoborneol multiple interactionsEXP 6480464isoborneol promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB2 protein binds to GABRG2 protein]]CTDPMID:15588619
GABRB2Human(R)-camphor multiple interactionsEXP 6480464Camphor promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB2 protein binds to GABRG2 protein]]CTDPMID:15588619
GABRB2Human1,2-dimethylhydrazine decreases expressionISOGabrb2 (Mus musculus)64804641 and 2-Dimethylhydrazine results in decreased expression of GABRB2 mRNACTDPMID:22206623
GABRB2Human1-(2-methoxyphenyl)piperazine multiple interactionsEXP 64804641-(2-methoxyphenyl)piperazine inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB2 protein binds to GABRG2 protein]]CTDPMID:26344803
GABRB2Human1-(3-(trifluoromethyl)phenyl)piperazine multiple interactionsEXP 64804641-(3-trifluoromethylphenyl)piperazine inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB2 protein binds to GABRG2 protein]]CTDPMID:26344803
GABRB2Human1-(3-chlorophenyl)piperazine multiple interactionsEXP 64804641-(3-chlorophenyl)piperazine inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB2 protein binds to GABRG2 protein]] more ...CTDPMID:23266428 and PMID:26344803
GABRB2Human1-benzylpiperazine multiple interactionsEXP 64804641-benzylpiperazine analog inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB2 protein binds to GABRG2 protein]] and 1-benzylpiperazine inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB2 protein binds to GABRG2 protein]]CTDPMID:26344803
GABRB2Human17alpha-ethynylestradiol increases expressionISOGabrb2 (Rattus norvegicus)6480464Ethinyl Estradiol results in increased expression of GABRB2 mRNACTDPMID:29097150
GABRB2Human2,2',4,4',5,5'-hexachlorobiphenyl multiple interactionsEXP 64804642 more ...CTDPMID:20819908
GABRB2Human2,2',4,4'-tetrachlorobiphenyl multiple interactionsEXP 64804642 more ...CTDPMID:20819908 and PMID:20861069
GABRB2Human2,2',5,5'-tetrachlorobiphenyl multiple interactionsEXP 6480464[2 more ...CTDPMID:20819908
GABRB2Human2,6-Dimethylphenol multiple interactionsISOGabrb2 (Rattus norvegicus)64804642 and 6-xylenol results in increased activity of [GABRG2 binds to GABRA1 binds to GABRB2]CTDPMID:11399263
GABRB2Human3,3',5,5'-tetrabromobisphenol A multiple interactionsEXP 6480464gabazine affects the reaction [tetrabromobisphenol A promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB2 protein binds to GABRG2 protein]]] more ...CTDPMID:22547355
GABRB2Human3,4-Methylenedioxyamphetamine multiple interactionsEXP 64804641-(3-chlorophenyl)piperazine promotes the reaction [3 more ...CTDPMID:23266428
GABRB2Human3,4-methylenedioxymethamphetamine multiple interactionsEXP 6480464N-Methyl-3 and 4-methylenedioxyamphetamine results in decreased activity of [GABRA1 protein binds to GABRB2 protein binds to GABRG2 protein]CTDPMID:23266428
GABRB2Human3alpha-hydroxy-5beta-pregnan-20-one multiple interactionsEXP 6480464Pregnanolone results in increased activity of [GABRA1 protein binds to GABRB2 binds to GABRG2 protein alternative form]CTDPMID:29038840
GABRB2Human4-ethyl-4-methylpiperidine-2,6-dione multiple interactionsEXP 6480464Bemegride inhibits the reaction [Carisoprodol results in increased activity of [GABRA1 protein binds to GABRB2 protein binds to GABRG2 protein]]CTDPMID:19244096
GABRB2Human6-Methoxyflavanone multiple interactionsEXP 64804646-methoxyflavanone promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB2 protein binds to GABRG2 protein]] and 6-methoxyflavanone promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA2 protein binds to GABRB2 protein binds to GABRG2 protein]]CTDPMID:24078264
GABRB2Human6-Methoxyflavone multiple interactionsEXP 64804646-methoxyflavone promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB2 protein binds to GABRG2 protein]] more ...CTDPMID:24078264

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Biological Process
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Original Reference(s)
GABRB2Humancellular response to histamine involved_inISSUniProtKB:P63138150520179 UniProtGO_REF:0000024
GABRB2Humanchemical synaptic transmission involved_inTAS 150520179 PMID:8264558PINCPMID:8264558
GABRB2Humanchloride transmembrane transport involved_inISSUniProtKB:P63138150520179 UniProtGO_REF:0000024
GABRB2Humanchloride transmembrane transport involved_inIBAMGI:95621 more ...150520179 GO_CentralGO_REF:0000033
GABRB2Humanchloride transmembrane transport involved_inIEAGO:0005254150520179 GOCGO_REF:0000108
GABRB2Humanchloride transmembrane transport involved_inIDA 150520179 PMID:29950725ComplexPortalPMID:29950725
GABRB2Humanchloride transport involved_inIEAUniProtKB-KW:KW-0869150520179 UniProtGO_REF:0000043
GABRB2Humancochlea development involved_inIEAUniProtKB:P63137 and ensembl:ENSMUSP00000007797150520179 EnsemblGO_REF:0000107
GABRB2Humangamma-aminobutyric acid signaling pathway involved_inIMP 150520179 PMID:27789573UniProtPMID:27789573
GABRB2Humangamma-aminobutyric acid signaling pathway involved_inIDA 150520179 PMID:29950725ComplexPortalPMID:29950725
GABRB2Humangamma-aminobutyric acid signaling pathway involved_inTAS 150520179 PMID:8264558PINCPMID:8264558
GABRB2Humangamma-aminobutyric acid signaling pathway involved_inNAS 150520179 PMID:28528665ComplexPortalPMID:28528665
GABRB2Humangamma-aminobutyric acid signaling pathway involved_inISSComplexPortal:CPX-2954150520179 ComplexPortalGO_REF:0000114
GABRB2Humaninhibitory synapse assembly involved_inIDA 150520179 PMID:23909897 and PMID:25489750UniProtPMID:23909897 and PMID:25489750
GABRB2Humaninhibitory synapse assembly involved_inIEAUniProtKB:P63137 and ensembl:ENSMUSP00000007797150520179 EnsemblGO_REF:0000107
GABRB2Humaninner ear receptor cell development involved_inIEAUniProtKB:P63137 and ensembl:ENSMUSP00000007797150520179 EnsemblGO_REF:0000107
GABRB2Humaninnervation involved_inIEAUniProtKB:P63137 and ensembl:ENSMUSP00000007797150520179 EnsemblGO_REF:0000107
GABRB2Humanmonoatomic ion transmembrane transport involved_inIEAUniProtKB-KW:KW-0407150520179 UniProtGO_REF:0000043
GABRB2Humanmonoatomic ion transmembrane transport involved_inIEAInterPro:IPR006028 and InterPro:IPR006201150520179 InterProGO_REF:0000002
GABRB2Humanmonoatomic ion transport involved_inIEAUniProtKB-KW:KW-0406150520179 UniProtGO_REF:0000043
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Cellular Component
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GABRB2Humanchloride channel complex part_ofIEAUniProtKB-KW:KW-0869150520179 UniProtGO_REF:0000043
GABRB2Humancytoplasmic vesicle located_inIEAUniProtKB-KW:KW-0968150520179 UniProtGO_REF:0000043
GABRB2Humancytoplasmic vesicle membrane located_inIEAUniProtKB-SubCell:SL-0089150520179 UniProtGO_REF:0000044
GABRB2Humandendritic spine is_active_inIDA 150520179 PMID:25025157UniProtPMID:25025157
GABRB2Humanextracellular exosome located_inHDA 150520179 PMID:19056867UniProtPMID:19056867
GABRB2HumanGABA receptor complex part_ofISOGabrb2 (Rattus norvegicus)9068941PMID:12930820BHF-UCLPMID:12930820 and REF_RGD_ID:8554754
GABRB2HumanGABA-A receptor complex part_ofIPI 150520179 PMID:29950725ComplexPortalPMID:29950725
GABRB2HumanGABA-A receptor complex part_ofIBAMGI:95621 more ...150520179 GO_CentralGO_REF:0000033
GABRB2HumanGABA-A receptor complex part_ofISSUniProtKB:P63138150520179 UniProtGO_REF:0000024
GABRB2HumanGABA-A receptor complex part_ofISSComplexPortal:CPX-280 and ComplexPortal:CPX-2954150520179 ComplexPortalGO_REF:0000114
GABRB2HumanGABA-ergic synapse is_active_inIEAUniProtKB:P63137 and ensembl:ENSMUSP00000007797150520179 EnsemblGO_REF:0000107
GABRB2Humanglutamatergic synapse is_active_inISOGabrb2 (Rattus norvegicus)9068941PMID:15174078SynGOPMID:15174078 and REF_RGD_ID:155230705
GABRB2Humanmembrane located_inIEAInterPro:IPR002289 more ...150520179 InterProGO_REF:0000002
GABRB2Humanmembrane located_inIEAUniProtKB-KW:KW-0472150520179 UniProtGO_REF:0000043
GABRB2Humanmembrane located_inIEAUniProtKB-SubCell:SL-0162150520179 UniProtGO_REF:0000044
GABRB2Humanplasma membrane located_inISSUniProtKB:P63138150520179 UniProtGO_REF:0000024
GABRB2Humanplasma membrane located_inIDA 150520179 PMID:27789573UniProtPMID:27789573
GABRB2Humanplasma membrane located_inTAS 150520179 PMID:8264558ReactomePMID:8264558 and Reactome:R-HSA-975340
GABRB2Humanplasma membrane located_inIEAUniProtKB-SubCell:SL-0039150520179 UniProtGO_REF:0000044
GABRB2Humanplasma membrane located_inIEAUniProtKB-KW:KW-1003150520179 UniProtGO_REF:0000043
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Molecular Function
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GABRB2Humanchloride channel activity enablesIEAUniProtKB-KW:KW-0869150520179 UniProtGO_REF:0000043
GABRB2Humanchloride channel activity contributes_toIBAMGI:95620 more ...150520179 GO_CentralGO_REF:0000033
GABRB2Humanchloride channel activity enablesISSUniProtKB:P63138150520179 UniProtGO_REF:0000024
GABRB2Humanextracellular ligand-gated monoatomic ion channel activity enablesIEAInterPro:IPR006202 and InterPro:IPR036734150520179 InterProGO_REF:0000002
GABRB2HumanGABA receptor activity contributes_toIMP 150520179 PMID:27789573UniProtPMID:27789573
GABRB2HumanGABA-A receptor activity  ISOGabrb2 (Rattus norvegicus)9068941 RGDPMID:11877425 and REF_RGD_ID:727351
GABRB2HumanGABA-A receptor activity enablesIBAMGI:95621 more ...150520179 GO_CentralGO_REF:0000033
GABRB2HumanGABA-A receptor activity enablesTAS 150520179 PMID:8264558PINCPMID:8264558
GABRB2HumanGABA-A receptor activity enablesIEAInterPro:IPR002289150520179 InterProGO_REF:0000002
GABRB2HumanGABA-A receptor activity enablesISSUniProtKB:P63138150520179 BHF-UCLGO_REF:0000024
GABRB2HumanGABA-gated chloride ion channel activity contributes_toIDA 150520179 PMID:23909897UniProtPMID:23909897
GABRB2HumanGABA-gated chloride ion channel activity contributes_toIEAUniProtKB:P63137 and ensembl:ENSMUSP00000007797150520179 EnsemblGO_REF:0000107
GABRB2Humaninhibitory extracellular ligand-gated monoatomic ion channel activity  ISOGabrb2 (Rattus norvegicus)9068941 RGDPMID:11877425 and REF_RGD_ID:727351
GABRB2Humanligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential enablesISOGabrb2 (Rattus norvegicus)9068941PMID:26592470SynGOPMID:26592470 and REF_RGD_ID:155230766
GABRB2Humanmonoatomic ion channel activity enablesIEAInterPro:IPR002289 more ...150520179 InterProGO_REF:0000002
GABRB2Humanprotein binding  ISOC1qbp (Rattus norvegicus)9068941 RGDPMID:11350968 and REF_RGD_ID:2316355
GABRB2Humanprotein binding enablesISOPR:P633289068941 PMID:12574411MGIPMID:12574411
GABRB2Humanprotein binding enablesISOUniProtKB:Q8R2H79068941PMID:12034717UniProtPMID:12034717 and REF_RGD_ID:625504
GABRB2Humanprotein binding enablesISOUniProtKB:P18508 more ...9068941PMID:28279354UniProtPMID:28279354 and REF_RGD_ID:13800541
GABRB2Humanprotein binding  ISONptn (Rattus norvegicus)9068941 RGDPMID:22389504 and REF_RGD_ID:9835374
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Original Reference(s)
GABRB2HumanAbnormal corpus callosum morphology  IAGP 8699517 HPOORPHA:442835
GABRB2HumanAbnormal involuntary eye movements  IAGP 8699517 HPOORPHA:442835
GABRB2HumanAbnormal myelination  IAGP 8699517 HPOORPHA:442835
GABRB2HumanAbnormality of coordination  IAGP 8699517 HPOORPHA:442835
GABRB2HumanAbnormality of vision  IAGP 8699517 HPOORPHA:442835
GABRB2HumanAbsent speech  IAGP 8699517 HPOMIM:617829
GABRB2HumanAtaxia  IAGP 8699517 HPOMIM:617829
GABRB2HumanAtaxia  IAGP 8699517 HPOORPHA:442835
GABRB2HumanAttention deficit hyperactivity disorder  IAGP 8699517 HPOORPHA:442835
GABRB2HumanAtypical behavior  IAGP 8699517 HPOORPHA:442835
GABRB2HumanAutism  IAGP 8699517 HPOORPHA:442835
GABRB2HumanAutosomal dominant inheritance  IAGP 8699517 HPOMIM:617829
GABRB2HumanBrain atrophy  IAGP 8699517 HPOORPHA:442835
GABRB2HumanCerebral atrophy  IAGP 8699517 HPOORPHA:442835
GABRB2HumanCerebral visual impairment  IAGP 8699517 HPOMIM:617829
GABRB2HumanDecreased fetal movement  IAGP 8699517 HPOORPHA:442835
GABRB2HumanDelayed speech and language development  IAGP 8699517 HPOORPHA:442835
GABRB2HumanDevelopmental regression  IAGP 8699517 HPOORPHA:442835
GABRB2HumanDownslanted palpebral fissures  IAGP 8699517 HPOORPHA:442835
GABRB2HumanDyskinesia  IAGP 8699517 HPOMIM:617829
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GABRB2HumanGeneralized-onset seizure  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Generalised epilepsyClinVarPMID:28492532
GABRB2HumanGeneralized-onset seizure  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Generalised epilepsyClinVarPMID:16718694 more ...
GABRB2HumanIntellectual disability  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Intellectual disabilityClinVarPMID:28492532
GABRB2HumanIntellectual disability  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Intellectual disabilityClinVarPMID:28492532
GABRB2HumanIntellectual disability  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Intellectual disabilityClinVarPMID:28492532
GABRB2HumanIntellectual disability  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Intellectual disabilityClinVarPMID:25741868 and PMID:28492532
GABRB2HumanIntellectual disability  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Intellectual disabilityClinVarPMID:25741868 and PMID:28492532
GABRB2HumanIntellectual disability  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Intellectual disabilityClinVarPMID:28492532
GABRB2HumanIntellectual disability  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Intellectual disabilityClinVarPMID:17576681 more ...
GABRB2HumanIntellectual disability  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Intellectual disabilityClinVarPMID:28492532
GABRB2HumanIntellectual disability  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Intellectual disabilityClinVarPMID:28492532
GABRB2HumanIntellectual disability  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Intellectual disabilityClinVarPMID:28492532
GABRB2HumanIntellectual disability  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Intellectual disabilityClinVarPMID:28492532
GABRB2HumanIntellectual disability  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Intellectual disabilityClinVarPMID:28492532
GABRB2HumanIntellectual disability  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Intellectual disabilityClinVarPMID:28492532
GABRB2HumanIntellectual disability  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Intellectual disabilityClinVarPMID:28492532
GABRB2HumanIntellectual disability  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Intellectual disabilityClinVarPMID:28492532
GABRB2HumanIntellectual disability  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Intellectual disabilityClinVarPMID:28492532
GABRB2HumanIntellectual disability  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Intellectual disabilityClinVarPMID:28492532
GABRB2HumanIntellectual disability  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Intellectual disabilityClinVarPMID:28492532
1 to 20 of 413 rows

#
Reference Title
Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. Ma DQ, etal., Am J Hum Genet. 2005 Sep;77(3):377-88. Epub 2005 Jul 15.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
1 to 10 of 10 rows
PMID:1321150   PMID:1334482   PMID:7707873   PMID:7851879   PMID:8175718   PMID:8264558   PMID:8590827   PMID:9153573   PMID:9464994   PMID:10023064   PMID:10449790   PMID:10493732  
PMID:11085308   PMID:11140951   PMID:11278514   PMID:11528422   PMID:11854302   PMID:12034717   PMID:12232773   PMID:12435728   PMID:12477932   PMID:12574411   PMID:12819203   PMID:14503638  
PMID:14625018   PMID:14699426   PMID:14702039   PMID:14966130   PMID:15016806   PMID:15033447   PMID:15198677   PMID:15337300   PMID:15489334   PMID:15542698   PMID:16172613   PMID:16472798  
PMID:16627470   PMID:16766085   PMID:16778401   PMID:16950232   PMID:17167345   PMID:17251430   PMID:17412563   PMID:17440936   PMID:17520021   PMID:18180429   PMID:18197653   PMID:18334916  
PMID:18583979   PMID:18715757   PMID:19056867   PMID:19078961   PMID:19086053   PMID:19367581   PMID:19523047   PMID:19705103   PMID:19763268   PMID:19874574   PMID:19909288   PMID:20221451  
PMID:20404824   PMID:20468064   PMID:20583128   PMID:20639197   PMID:20692323   PMID:20734064   PMID:20843900   PMID:20848605   PMID:20888417   PMID:21209255   PMID:21420396   PMID:21729720  
PMID:21751815   PMID:21806616   PMID:21873635   PMID:22206711   PMID:23121119   PMID:23266428   PMID:23308109   PMID:23617850   PMID:23638040   PMID:23909897   PMID:23917429   PMID:25025157  
PMID:25124326   PMID:25241062   PMID:25489750   PMID:26016529   PMID:26561861   PMID:27789573   PMID:28063323   PMID:28514442   PMID:28528665   PMID:28859983   PMID:29705689   PMID:29894498  
PMID:29950725   PMID:30706170   PMID:31690811   PMID:32686847   PMID:32807901   PMID:32988247   PMID:33325057   PMID:33961781   PMID:34673206   PMID:35355020   PMID:36030824   PMID:37071682  
PMID:38964454   PMID:38996765  
1 to 10 of 10 rows



GABRB2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385161,288,436 - 161,548,404 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5161,288,429 - 161,549,044 (-)EnsemblGRCh38hg38GRCh38
GRCh375160,715,443 - 160,975,410 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365160,648,014 - 160,907,708 (-)NCBINCBI36Build 36hg18NCBI36
Build 345160,653,448 - 160,907,708NCBI
Celera5156,747,290 - 157,006,998 (-)NCBICelera
Cytogenetic Map5q34NCBI
HuRef5155,807,898 - 156,067,549 (-)NCBIHuRef
CHM1_15160,147,827 - 160,407,563 (-)NCBICHM1_1
T2T-CHM13v2.05161,817,252 - 162,077,933 (-)NCBIT2T-CHM13v2.0
Gabrb2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391142,310,342 - 42,523,418 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1142,310,584 - 42,519,855 (+)EnsemblGRCm39 Ensembl
GRCm381142,419,515 - 42,632,591 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1142,419,757 - 42,629,028 (+)EnsemblGRCm38mm10GRCm38
MGSCv371142,233,259 - 42,446,093 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361142,263,180 - 42,472,451 (+)NCBIMGSCv36mm8
Celera1146,252,427 - 46,464,396 (+)NCBICelera
Cytogenetic Map11A5NCBI
cM Map1125.08NCBI
Gabrb2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81027,438,127 - 27,657,680 (+)NCBIGRCr8
mRatBN7.21026,936,592 - 27,156,141 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1026,936,551 - 27,151,251 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1031,687,629 - 31,916,745 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01031,176,165 - 31,405,281 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01026,662,808 - 26,891,915 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01027,973,694 - 28,193,072 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1027,973,681 - 28,187,565 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01027,816,796 - 28,032,603 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41027,602,085 - 27,819,145 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11027,603,057 - 27,820,693 (+)NCBI
Celera1026,450,647 - 26,662,574 (+)NCBICelera
Cytogenetic Map10q21NCBI
Gabrb2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540815,131,909 - 15,363,169 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540815,126,235 - 15,363,169 (-)NCBIChiLan1.0ChiLan1.0
GABRB2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24156,474,166 - 156,733,420 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15154,613,712 - 154,872,963 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05156,678,750 - 156,937,614 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15163,373,530 - 163,632,301 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5163,374,346 - 163,632,301 (-)Ensemblpanpan1.1panPan2
GABRB2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1449,342,527 - 49,579,697 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl449,342,508 - 49,578,092 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha449,230,876 - 49,476,874 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0449,771,687 - 49,919,166 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl449,771,977 - 50,018,741 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1449,578,711 - 49,828,742 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0449,712,838 - 49,956,441 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0450,235,113 - 50,479,017 (+)NCBIUU_Cfam_GSD_1.0
Gabrb2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213103,677,848 - 103,910,350 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365152,127,693 - 2,355,090 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365152,127,107 - 2,359,697 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GABRB2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1661,984,925 - 62,239,937 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11661,984,923 - 62,240,902 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21667,212,830 - 67,464,338 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GABRB2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12363,636,094 - 63,894,587 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2363,637,109 - 63,893,370 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603413,661,103 - 13,924,348 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gabrb2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473328,022,635 - 28,230,865 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473328,022,632 - 28,236,211 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

.

.
Variants in GABRB2
532 total Variants

1 to 10 of 613 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
NM_001371727.1(GABRB2):c.899C>T (p.Pro300Leu) single nucleotide variant not provided [RCV000521829] Chr5:161331061 [GRCh38]
Chr5:160758068 [GRCh37]
Chr5:5q34		 pathogenic
NM_001371727.1(GABRB2):c.422G>A (p.Arg141His) single nucleotide variant Inborn genetic diseases [RCV001266782]|Intellectual disability [RCV001341154]|not provided [RCV000519406] Chr5:161459660 [GRCh38]
Chr5:160886666 [GRCh37]
Chr5:5q34		 uncertain significance
NM_001371727.1(GABRB2):c.625C>G (p.Gln209Glu) single nucleotide variant Intellectual disability [RCV000640683] Chr5:161336686 [GRCh38]
Chr5:160763693 [GRCh37]
Chr5:5q34		 uncertain significance
NM_001371727.1(GABRB2):c.1190C>T (p.Thr397Met) single nucleotide variant Intellectual disability [RCV000640686] Chr5:161326369 [GRCh38]
Chr5:160753376 [GRCh37]
Chr5:5q34		 benign|uncertain significance
NM_001371727.1(GABRB2):c.877C>T (p.Arg293Trp) single nucleotide variant Developmental and epileptic encephalopathy 92 [RCV002248768]|Intellectual disability [RCV000545539]|Seizure [RCV004554805]|not provided [RCV002274063] Chr5:161331083 [GRCh38]
Chr5:160758090 [GRCh37]
Chr5:5q34		 pathogenic|likely pathogenic|uncertain significance
NM_001371727.1(GABRB2):c.1159C>T (p.Arg387Trp) single nucleotide variant Intellectual disability [RCV000551331]|not provided [RCV000998478] Chr5:161326400 [GRCh38]
Chr5:160753407 [GRCh37]
Chr5:5q34		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001371727.1(GABRB2):c.950_951delinsCA (p.Phe317Ser) indel not provided [RCV000519879] Chr5:161331009..161331010 [GRCh38]
Chr5:160758016..160758017 [GRCh37]
Chr5:5q34		 likely pathogenic
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3		 pathogenic
GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|See cases [RCV000051865] Chr5:160029980..181269805 [GRCh38]
Chr5:159456987..180696806 [GRCh37]
Chr5:159389565..180629412 [NCBI36]
Chr5:5q33.3-35.3		 pathogenic
GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1 copy number loss See cases [RCV000052144] Chr5:152761187..167248053 [GRCh38]
Chr5:152140747..166675058 [GRCh37]
Chr5:152120940..166607636 [NCBI36]
Chr5:5q33.1-34		 pathogenic
1 to 10 of 613 rows

Predicted Target Of
Summary Value
Count of predictions:4968
Count of miRNA genes:1130
Interacting mature miRNAs:1395
Transcripts:ENST00000274547, ENST00000353437, ENST00000393959, ENST00000517547, ENST00000517901, ENST00000520240, ENST00000522758, ENST00000523730
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


1 to 10 of 23 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
597170200GWAS1266274_Hsmoking initiation QTL GWAS1266274 (human)3e-19smoking initiation5161415703161415704Human
597170201GWAS1266275_Hsmoking initiation QTL GWAS1266275 (human)5e-21smoking initiation5161490579161490580Human
407052961GWAS701937_Hnicotine dependence symptom count QTL GWAS701937 (human)0.000007nicotine dependence symptom count5161329061161329062Human
597101525GWAS1197599_Hmultisite chronic pain QTL GWAS1197599 (human)5e-08multisite chronic pain5161409614161409615Human
597283131GWAS1379205_HCOVID-19 QTL GWAS1379205 (human)0.000008COVID-195161483653161483654Human
597170202GWAS1266276_Hsmoking initiation QTL GWAS1266276 (human)2e-19smoking initiation5161500941161500942Human
2289409BW320_HBody weight QTL 320 (human)3.50.0002Body weightlean mass5160925164181538259Human
597170203GWAS1266277_Hsmoking initiation QTL GWAS1266277 (human)5e-21smoking initiation5161510343161510344Human
597170204GWAS1266278_Hsmoking initiation QTL GWAS1266278 (human)4e-21smoking initiation5161515719161515720Human
597170205GWAS1266279_Hsmoking initiation QTL GWAS1266279 (human)3e-21smoking initiation5161525496161525497Human

1 to 10 of 23 rows
D5S2118  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375160,754,006 - 160,754,258UniSTSGRCh37
Build 365160,686,584 - 160,686,836RGDNCBI36
Celera5156,785,851 - 156,786,103RGD
Cytogenetic Map5q34UniSTS
Marshfield Genetic Map5162.16RGD
Marshfield Genetic Map5162.16UniSTS
Genethon Genetic Map5161.6UniSTS
deCODE Assembly Map5165.09UniSTS
Whitehead-YAC Contig Map5 UniSTS
D5S1955  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375160,738,969 - 160,739,159UniSTSGRCh37
Build 365160,671,547 - 160,671,737RGDNCBI36
Celera5156,770,814 - 156,771,004RGD
Cytogenetic Map5q34UniSTS
HuRef5155,831,418 - 155,831,608UniSTS
Marshfield Genetic Map5163.25UniSTS
Marshfield Genetic Map5163.25RGD
Genethon Genetic Map5163.0UniSTS
TNG Radiation Hybrid Map575185.0UniSTS
deCODE Assembly Map5165.09UniSTS
Stanford-G3 RH Map55833.0UniSTS
GeneMap99-GB4 RH Map5604.75UniSTS
Whitehead-RH Map5513.5UniSTS
Whitehead-YAC Contig Map5 UniSTS
GeneMap99-G3 RH Map55921.0UniSTS
SHGC-81786  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375160,957,846 - 160,958,154UniSTSGRCh37
Build 365160,890,424 - 160,890,732RGDNCBI36
Celera5156,989,714 - 156,990,022RGD
Cytogenetic Map5q34UniSTS
HuRef5156,050,263 - 156,050,571UniSTS
TNG Radiation Hybrid Map575808.0UniSTS
SHGC-84076  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375160,957,152 - 160,957,439UniSTSGRCh37
Build 365160,889,730 - 160,890,017RGDNCBI36
Celera5156,989,020 - 156,989,307RGD
Cytogenetic Map5q34UniSTS
HuRef5156,049,569 - 156,049,856UniSTS
TNG Radiation Hybrid Map575800.0UniSTS
RH121463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375160,927,149 - 160,927,426UniSTSGRCh37
Build 365160,859,727 - 160,860,004RGDNCBI36
Celera5156,959,016 - 156,959,293RGD
Cytogenetic Map5q34UniSTS
HuRef5156,019,555 - 156,019,832UniSTS
TNG Radiation Hybrid Map575821.0UniSTS
RH122524  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375160,722,232 - 160,722,559UniSTSGRCh37
Build 365160,654,810 - 160,655,137RGDNCBI36
Celera5156,754,080 - 156,754,407RGD
Cytogenetic Map5q34UniSTS
HuRef5155,814,686 - 155,815,013UniSTS
TNG Radiation Hybrid Map575170.0UniSTS
D5S1626E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375160,716,432 - 160,716,539UniSTSGRCh37
Build 365160,649,010 - 160,649,117RGDNCBI36
Celera5156,748,286 - 156,748,393RGD
Cytogenetic Map5q34UniSTS
HuRef5155,808,894 - 155,809,001UniSTS
G64852  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375160,948,070 - 160,948,271UniSTSGRCh37
Build 365160,880,648 - 160,880,849RGDNCBI36
Celera5156,979,938 - 156,980,139RGD
Cytogenetic Map5q34UniSTS
HuRef5156,040,467 - 156,040,668UniSTS
bac51719T  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375160,751,469 - 160,751,656UniSTSGRCh37
Build 365160,684,047 - 160,684,234RGDNCBI36
Celera5156,783,314 - 156,783,501RGD
Cytogenetic Map5q34UniSTS
HuRef5155,843,911 - 155,844,098UniSTS
bac51809S  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375160,776,694 - 160,776,848UniSTSGRCh37
Build 365160,709,272 - 160,709,426RGDNCBI36
Celera5156,808,542 - 156,808,696RGD
Cytogenetic Map5q34UniSTS
HuRef5155,869,125 - 155,869,279UniSTS
RH106547  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375160,721,059 - 160,721,278UniSTSGRCh37
Build 365160,653,637 - 160,653,856RGDNCBI36
Celera5156,752,907 - 156,753,126RGD
Cytogenetic Map5q34UniSTS
HuRef5155,813,513 - 155,813,732UniSTS
GABRB2_1986  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375160,720,721 - 160,721,423UniSTSGRCh37
Build 365160,653,299 - 160,654,001RGDNCBI36
Celera5156,752,569 - 156,753,271RGD
HuRef5155,813,175 - 155,813,877UniSTS
D5S2514  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375160,818,577 - 160,818,729UniSTSGRCh37
Build 365160,751,155 - 160,751,307RGDNCBI36
Celera5156,850,430 - 156,850,582RGD
HuRef5155,911,001 - 155,911,153UniSTS
AB047609  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375160,716,668 - 160,716,878UniSTSGRCh37
Build 365160,649,246 - 160,649,456RGDNCBI36
Celera5156,748,522 - 156,748,726RGD
HuRef5155,809,130 - 155,809,332UniSTS
D5S1848  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375160,716,422 - 160,716,631UniSTSGRCh37
Build 365160,649,000 - 160,649,209RGDNCBI36
Celera5156,748,276 - 156,748,485RGD
Cytogenetic Map5q34UniSTS
HuRef5155,808,884 - 155,809,093UniSTS
GeneMap99-GB4 RH Map5610.13UniSTS
Whitehead-RH Map5514.9UniSTS
Whitehead-YAC Contig Map5 UniSTS
NCBI RH Map5952.4UniSTS
WIAF-1561  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375160,716,449 - 160,716,614UniSTSGRCh37
Build 365160,649,027 - 160,649,192RGDNCBI36
Celera5156,748,303 - 156,748,468RGD
Cytogenetic Map5q34UniSTS
HuRef5155,808,911 - 155,809,076UniSTS
GeneMap99-GB4 RH Map5604.55UniSTS
STS-S67368  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375160,720,881 - 160,721,095UniSTSGRCh37
Build 365160,653,459 - 160,653,673RGDNCBI36
Celera5156,752,729 - 156,752,943RGD
Cytogenetic Map5q34UniSTS
HuRef5155,813,335 - 155,813,549UniSTS
GeneMap99-GB4 RH Map5609.33UniSTS
NCBI RH Map5952.4UniSTS




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1201 2286 2760 2121 4794 1434 1889 2 346 1327 185 2151 6029 5651 27 3663 711 1592 1450 165 1


1 to 30 of 125 rows
RefSeq Transcripts NG_047050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide A28108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC091882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC091989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC099705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC099719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU086163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU086164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 30 of 125 rows

Ensembl Acc Id: ENST00000274547   ⟹   ENSP00000274547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5161,288,429 - 161,547,912 (-)Ensembl
Ensembl Acc Id: ENST00000353437   ⟹   ENSP00000274546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5161,293,864 - 161,548,227 (-)Ensembl
Ensembl Acc Id: ENST00000393959   ⟹   ENSP00000377531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5161,288,436 - 161,546,725 (-)Ensembl
Ensembl Acc Id: ENST00000517547   ⟹   ENSP00000429750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5161,293,898 - 161,546,697 (-)Ensembl
Ensembl Acc Id: ENST00000517901   ⟹   ENSP00000430532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5161,293,864 - 161,548,135 (-)Ensembl
Ensembl Acc Id: ENST00000520240   ⟹   ENSP00000429320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5161,293,864 - 161,548,124 (-)Ensembl
Ensembl Acc Id: ENST00000522758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5161,459,135 - 161,546,725 (-)Ensembl
Ensembl Acc Id: ENST00000523730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5161,546,746 - 161,549,044 (-)Ensembl
Ensembl Acc Id: ENST00000612710   ⟹   ENSP00000480066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5161,329,434 - 161,546,679 (-)Ensembl
Ensembl Acc Id: ENST00000674514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5161,325,373 - 161,546,725 (-)Ensembl
Ensembl Acc Id: ENST00000674988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5161,541,185 - 161,546,364 (-)Ensembl
Ensembl Acc Id: ENST00000675081   ⟹   ENSP00000502207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5161,289,802 - 161,534,549 (-)Ensembl
Ensembl Acc Id: ENST00000675245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5161,435,776 - 161,546,707 (-)Ensembl
Ensembl Acc Id: ENST00000675303   ⟹   ENSP00000502748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5161,290,307 - 161,547,032 (-)Ensembl
Ensembl Acc Id: ENST00000675381   ⟹   ENSP00000501968
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5161,290,377 - 161,534,606 (-)Ensembl
Ensembl Acc Id: ENST00000675682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5161,483,109 - 161,546,796 (-)Ensembl
Ensembl Acc Id: ENST00000675746   ⟹   ENSP00000502391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5161,294,139 - 161,404,934 (-)Ensembl
Ensembl Acc Id: ENST00000675773   ⟹   ENSP00000502701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5161,289,458 - 161,547,766 (-)Ensembl
RefSeq Acc Id: NM_000813   ⟹   NP_000804
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385161,288,436 - 161,548,404 (-)NCBI
GRCh375160,715,426 - 160,975,130 (-)NCBI
Build 365160,648,014 - 160,907,708 (-)NCBI Archive
HuRef5155,807,898 - 156,067,549 (-)ENTREZGENE
CHM1_15160,147,827 - 160,407,563 (-)NCBI
T2T-CHM13v2.05161,817,252 - 162,077,249 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371727   ⟹   NP_001358656
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385161,288,436 - 161,546,725 (-)NCBI
T2T-CHM13v2.05161,817,252 - 162,075,570 (-)NCBI
Sequence:
RefSeq Acc Id: NM_021911   ⟹   NP_068711
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385161,288,436 - 161,548,404 (-)NCBI
GRCh375160,715,426 - 160,975,130 (-)NCBI
Build 365160,648,014 - 160,907,708 (-)NCBI Archive
HuRef5155,807,898 - 156,067,549 (-)ENTREZGENE
CHM1_15160,147,827 - 160,407,563 (-)NCBI
T2T-CHM13v2.05161,817,252 - 162,077,249 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054352306   ⟹   XP_054208281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05161,817,252 - 162,076,535 (-)NCBI
RefSeq Acc Id: XM_054352307   ⟹   XP_054208282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05161,817,252 - 162,077,244 (-)NCBI
RefSeq Acc Id: XM_054352308   ⟹   XP_054208283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05161,817,252 - 162,075,983 (-)NCBI
RefSeq Acc Id: XM_054352309   ⟹   XP_054208284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05161,817,252 - 162,077,243 (-)NCBI
RefSeq Acc Id: XM_054352310   ⟹   XP_054208285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05161,817,252 - 162,077,933 (-)NCBI
RefSeq Acc Id: XM_054352311   ⟹   XP_054208286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05161,817,252 - 162,076,668 (-)NCBI
RefSeq Acc Id: XM_054352312   ⟹   XP_054208287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05161,817,252 - 162,076,039 (-)NCBI
RefSeq Acc Id: XM_054352313   ⟹   XP_054208288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05161,817,252 - 162,076,607 (-)NCBI
1 to 30 of 125 rows
Protein RefSeqs NP_000804 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358656 (Get FASTA)   NCBI Sequence Viewer  
  NP_068711 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208281 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208282 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208283 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208284 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208285 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208286 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208287 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208288 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB29370 (Get FASTA)   NCBI Sequence Viewer  
  AAB33982 (Get FASTA)   NCBI Sequence Viewer  
  AAB33983 (Get FASTA)   NCBI Sequence Viewer  
  AAH99705 (Get FASTA)   NCBI Sequence Viewer  
  AAH99719 (Get FASTA)   NCBI Sequence Viewer  
  AAI05640 (Get FASTA)   NCBI Sequence Viewer  
  ACY69094 (Get FASTA)   NCBI Sequence Viewer  
  ACY69095 (Get FASTA)   NCBI Sequence Viewer  
  ACY71653 (Get FASTA)   NCBI Sequence Viewer  
  ACY71654 (Get FASTA)   NCBI Sequence Viewer  
  ACY71655 (Get FASTA)   NCBI Sequence Viewer  
  ACY71656 (Get FASTA)   NCBI Sequence Viewer  
  ACY71657 (Get FASTA)   NCBI Sequence Viewer  
  ACY71658 (Get FASTA)   NCBI Sequence Viewer  
  ACY71659 (Get FASTA)   NCBI Sequence Viewer  
  ACY71660 (Get FASTA)   NCBI Sequence Viewer  
  ACY71661 (Get FASTA)   NCBI Sequence Viewer  
  ACY71662 (Get FASTA)   NCBI Sequence Viewer  
  ACY71663 (Get FASTA)   NCBI Sequence Viewer  
1 to 30 of 125 rows
1 to 5 of 23 rows
1 to 5 of 23 rows
RefSeq Acc Id: NP_000804   ⟸   NM_000813
- Peptide Label: isoform 2 precursor
- UniProtKB: E7EV50 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_068711   ⟸   NM_021911
- Peptide Label: isoform 1 precursor
- UniProtKB: Q16323 (UniProtKB/Swiss-Prot),   D1LYT1 (UniProtKB/Swiss-Prot),   D1LYT0 (UniProtKB/Swiss-Prot),   A8K1A0 (UniProtKB/Swiss-Prot),   A8K115 (UniProtKB/Swiss-Prot),   Q4FZB2 (UniProtKB/Swiss-Prot),   P47870 (UniProtKB/Swiss-Prot),   E7EV50 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001358656   ⟸   NM_001371727
- Peptide Label: isoform 1 precursor
- UniProtKB: Q16323 (UniProtKB/Swiss-Prot),   P47870 (UniProtKB/Swiss-Prot),   D1LYT1 (UniProtKB/Swiss-Prot),   D1LYT0 (UniProtKB/Swiss-Prot),   A8K1A0 (UniProtKB/Swiss-Prot),   A8K115 (UniProtKB/Swiss-Prot),   Q4FZB2 (UniProtKB/Swiss-Prot),   E7EV50 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000429750   ⟸   ENST00000517547
Ensembl Acc Id: ENSP00000430532   ⟸   ENST00000517901
Neurotransmitter-gated ion-channel ligand-binding   Neurotransmitter-gated ion-channel transmembrane

Name Modeler Protein Id AA Range Protein Structure
AF-P47870-F1-model_v2 AlphaFold P47870 1-512 view protein structure

RGD ID:6871464
Promoter ID:EPDNEW_H8897
Type:initiation region
Name:GABRB2_2
Description:gamma-aminobutyric acid type A receptor beta2 subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8898  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385161,546,725 - 161,546,785EPDNEW
RGD ID:6871466
Promoter ID:EPDNEW_H8898
Type:initiation region
Name:GABRB2_1
Description:gamma-aminobutyric acid type A receptor beta2 subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8897  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385161,548,295 - 161,548,355EPDNEW


1 to 40 of 57 rows
Database
Acc Id
Source(s)
COSMIC GABRB2 COSMIC
Ensembl Genes ENSG00000145864 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000274547.7 UniProtKB/Swiss-Prot
  ENST00000353437 ENTREZGENE
  ENST00000353437.10 UniProtKB/Swiss-Prot
  ENST00000393959 ENTREZGENE
  ENST00000393959.6 UniProtKB/Swiss-Prot
  ENST00000520240.5 UniProtKB/Swiss-Prot
  ENST00000675303.1 UniProtKB/Swiss-Prot
  ENST00000675773.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.58.390 UniProtKB/Swiss-Prot
  2.70.170.10 UniProtKB/Swiss-Prot
GTEx ENSG00000145864 GTEx
HGNC ID HGNC:4082 ENTREZGENE
Human Proteome Map GABRB2 Human Proteome Map
InterPro GABAA/Glycine_rcpt UniProtKB/Swiss-Prot
  GABAAb_rcpt UniProtKB/Swiss-Prot
  Neur_chan_lig-bd UniProtKB/Swiss-Prot
  Neur_chan_lig-bd_sf UniProtKB/Swiss-Prot
  Neur_channel UniProtKB/Swiss-Prot
  Neuro-gated_channel_TM_sf UniProtKB/Swiss-Prot
  Neuro_actylchol_rec UniProtKB/Swiss-Prot
  Neurotrans-gated_channel_TM UniProtKB/Swiss-Prot
  Neurotransmitter_ion_chnl_CS UniProtKB/Swiss-Prot
KEGG Report hsa:2561 UniProtKB/Swiss-Prot
NCBI Gene 2561 ENTREZGENE
OMIM 600232 OMIM
PANTHER PTHR18945 UniProtKB/Swiss-Prot
Pfam Neur_chan_LBD UniProtKB/Swiss-Prot
  Neur_chan_memb UniProtKB/Swiss-Prot
PharmGKB GABRB2 RGD, PharmGKB
PRINTS GABAARBETA UniProtKB/Swiss-Prot
  GABAARECEPTR UniProtKB/Swiss-Prot
  NRIONCHANNEL UniProtKB/Swiss-Prot
PROSITE NEUROTR_ION_CHANNEL UniProtKB/Swiss-Prot
Superfamily-SCOP SSF63712 UniProtKB/Swiss-Prot
  SSF90112 UniProtKB/Swiss-Prot
UniProt A0A6Q8PFU0_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGD9_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGT5_HUMAN UniProtKB/TrEMBL
1 to 40 of 57 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-12-03 GABRB2  gamma-aminobutyric acid type A receptor subunit beta2  GABRB2  gamma-aminobutyric acid type A receptor beta2 subunit  Symbol and/or name change 5135510 APPROVED
2016-02-10 GABRB2  gamma-aminobutyric acid type A receptor beta2 subunit  GABRB2  gamma-aminobutyric acid (GABA) A receptor, beta 2  Symbol and/or name change 5135510 APPROVED