Atlas of Genetics and Cytogenetics in Oncology and Haematology

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GABRB3 (gamma-aminobutyric acid (GABA) A receptor, beta 3)

Identity

Other namesECA5
HGNC (Hugo) GABRB3
LocusID (NCBI) 2562
Location 15q12
Location_base_pair Starts at 26788694 and ends at 27018223 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)GABRB3   4083
Entrez_Gene (NCBI)GABRB3  2562  gamma-aminobutyric acid (GABA) A receptor, beta 3
Cards
GeneCards (Weizmann)GABRB3
Ensembl (Hinxton)ENSG00000166206 [Gene_View]  chr15:26788694-27018223 [Contig_View]  GABRB3 [Vega]
AceView (NCBI)GABRB3
Genatlas (Paris)GABRB3
SOURCE (Stanford)NM_000814 NM_001191320 NM_001191321 NM_021912
Genomic and cartography
GoldenPath (UCSC)GABRB3  -  15q12   chr15:26788694-27018223 -  15q12   [Description]    (hg19-Feb_2009)
EnsemblGABRB3 - 15q12 [CytoView]
Mapping of homologs : NCBIGABRB3 [Mapview]
OMIM137192   612269   
Gene and transcription
Genbank (Entrez)AK056018 AK095011 AK295167 AK302822 AK315311
RefSeq transcript (SRS)NM_000814 NM_001191320 NM_001191321 NM_021912
RefSeq transcript (Entrez)NM_000814 NM_001191320 NM_001191321 NM_021912
RefSeq genomic (SRS)AC_000147 NC_000015 NC_018926 NG_012836 NT_026446 NW_001838194 NW_004078083
RefSeq genomic (Entrez)AC_000147 NC_000015 NC_018926 NG_012836 NT_026446 NW_001838194 NW_004078083
Consensus coding sequences : CCDS (NCBI)GABRB3
Cluster EST : UnigeneHs.302352 [ SRS ] Hs.302352 [ NCBI ]
CGAP (NCI)Hs.302352
Alternative Splicing : Fast-db (Paris)GSHG0010243
Alternative Splicing GalleryENSG00000166206
Gene ExpressionGABRB3 [ NCBI-GEO ]   GABRB3 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP28472 (SRS) P28472 (Uniprot)
NextProtP28472
With graphics : InterProP28472
Splice isoforms : SwissVarP28472(Swissvar)
Domaine pattern : Prosite (SRS)NEUROTR_ION_CHANNEL (PS00236)   
Domaine pattern : Prosite (Expaxy)NEUROTR_ION_CHANNEL (PS00236)   
Domains : Interpro (SRS)GABAA_rcpt    GABAAb_rcpt    Neur_chan_lig-bd    Neur_channel    Neurotrans-gated_channel_TM    Neurotransmitter_ion_chnl_CS   
Domains : Interpro (EBI)GABAA_rcpt    GABAAb_rcpt    Neur_chan_lig-bd    Neur_channel    Neurotrans-gated_channel_TM    Neurotransmitter_ion_chnl_CS   
Related proteins : CluSTrP28472
Domain families : Pfam (SRS)Neur_chan_LBD (PF02931)    Neur_chan_memb (PF02932)   
Domain families : Pfam (Sanger)Neur_chan_LBD (PF02931)    Neur_chan_memb (PF02932)   
Domain families : Pfam (NCBI)pfam02931    pfam02932   
DMDM2562
Blocks (Seattle)P28472
Human Protein AtlasENSG00000166206
HPRD08844
IPIIPI00003467   IPI00217235   IPI00470817   IPI01026236   IPI01026333   IPI01025915   IPI01026119   IPI01024787   IPI00975640   IPI00873700   
Protein Interaction databases
DIP (DOE-UCLA)P28472
IntAct (EBI)P28472
FunCoupENSG00000166206
REACTOMEGABRB3
Protein Interaction Database2562
BioGRIDGABRB3
InParanoidP28472
Interologous Interaction database P28472
IntegromeDBGABRB3
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)GABRB3
SNP (GeneSNP Utah)GABRB3
SNP : HGBaseGABRB3
Genetic variants : HAPMAPGABRB3
Somatic Mutations in Cancer : COSMICGABRB3 
CONAN: Copy Number AnalysisGABRB3 
Mutations and Diseases : HGMDGABRB3
OMIM137192    612269   
GENETests137192    612269   
Disease Genetic AssociationGABRB3
Huge Navigator GABRB3 [HugePedia]  GABRB3 [HugeCancerGEM]
Genomic VariantsGABRB3  GABRB3 [DGVbeta]
ClinVarGABRB3
snp3D : Map Gene to Disease2562
General knowledge
Homologs : HomoloGeneGABRB3
Homology/Alignments : Family Browser (UCSC)GABRB3
Phylogenetic Trees/Animal Genes : TreeFamGABRB3
Chemical/Protein Interactions : CTD2562
Chemical/Pharm GKB GenePA28497
Clinical trialGABRB3
Cancer Resource (Charite)ENSG00000166206
Ontology : AmiGOGABA-A receptor activity  extracellular ligand-gated ion channel activity  chloride channel activity  plasma membrane  integral to plasma membrane  transport  signal transduction  synaptic transmission  sensory perception of sound  cell junction  ion transmembrane transport  chloride channel complex  postsynaptic membrane  transmembrane transport  inner ear receptor cell development  innervation  cochlea development  
Ontology : EGO-EBIGABA-A receptor activity  extracellular ligand-gated ion channel activity  chloride channel activity  plasma membrane  integral to plasma membrane  transport  signal transduction  synaptic transmission  sensory perception of sound  cell junction  ion transmembrane transport  chloride channel complex  postsynaptic membrane  transmembrane transport  inner ear receptor cell development  innervation  cochlea development  
Pathways : KEGGNeuroactive ligand-receptor interaction
Other databases
Probes
Litterature
PubMed86 Pubmed reference(s) in Entrez
PubGeneGABRB3
iHOPGABRB3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 14 17:26:03 CEST 2013
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