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GABRA4 (gamma-aminobutyric acid (GABA) A receptor, alpha 4)

Identity

Alias_namesgamma-aminobutyric acid (GABA) A receptor, alpha 4
Other alias-
HGNC (Hugo) GABRA4
LocusID (NCBI) 2557
Atlas_Id 63648
Location 4p12  [Link to chromosome band 4p12]
Location_base_pair Starts at 46920917 and ends at 46996424 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)GABRA4   4078
Cards
Entrez_Gene (NCBI)GABRA4  2557  gamma-aminobutyric acid (GABA) A receptor, alpha 4
Aliases
GeneCards (Weizmann)GABRA4
Ensembl hg19 (Hinxton)ENSG00000109158 [Gene_View]  chr4:46920917-46996424 [Contig_View]  GABRA4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000109158 [Gene_View]  chr4:46920917-46996424 [Contig_View]  GABRA4 [Vega]
ICGC DataPortalENSG00000109158
TCGA cBioPortalGABRA4
AceView (NCBI)GABRA4
Genatlas (Paris)GABRA4
WikiGenes2557
SOURCE (Princeton)GABRA4
Genetics Home Reference (NIH)GABRA4
Genomic and cartography
GoldenPath hg19 (UCSC)GABRA4  -     chr4:46920917-46996424 -  4p12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)GABRA4  -     4p12   [Description]    (hg38-Dec_2013)
EnsemblGABRA4 - 4p12 [CytoView hg19]  GABRA4 - 4p12 [CytoView hg38]
Mapping of homologs : NCBIGABRA4 [Mapview hg19]  GABRA4 [Mapview hg38]
OMIM137141   
Gene and transcription
Genbank (Entrez)AF238869 AK090780 BC035055 BC036474 BC037926
RefSeq transcript (Entrez)NM_000809 NM_001204266 NM_001204267
RefSeq genomic (Entrez)NC_000004 NC_018915 NG_011809 NT_006238 NW_004929317
Consensus coding sequences : CCDS (NCBI)GABRA4
Cluster EST : UnigeneHs.248112 [ NCBI ]
CGAP (NCI)Hs.248112
Alternative Splicing GalleryENSG00000109158
Gene ExpressionGABRA4 [ NCBI-GEO ]   GABRA4 [ EBI - ARRAY_EXPRESS ]   GABRA4 [ SEEK ]   GABRA4 [ MEM ]
Gene Expression Viewer (FireBrowse)GABRA4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2557
GTEX Portal (Tissue expression)GABRA4
Protein : pattern, domain, 3D structure
UniProt/SwissProtP48169   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP48169  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP48169
Splice isoforms : SwissVarP48169
PhosPhoSitePlusP48169
Domaine pattern : Prosite (Expaxy)NEUROTR_ION_CHANNEL (PS00236)   
Domains : Interpro (EBI)GABAA/Glycine_rcpt    GABAAa_rcpt    GABBAa4_rcpt    Neur_chan_lig-bd    Neur_channel    Neurotrans-gated_channel_TM    Neurotransmitter_ion_chnl_CS   
Domain families : Pfam (Sanger)Neur_chan_LBD (PF02931)    Neur_chan_memb (PF02932)   
Domain families : Pfam (NCBI)pfam02931    pfam02932   
Conserved Domain (NCBI)GABRA4
DMDM Disease mutations2557
Blocks (Seattle)GABRA4
SuperfamilyP48169
Human Protein AtlasENSG00000109158
Peptide AtlasP48169
HPRD08839
IPIIPI00008225   IPI00979707   IPI00978791   IPI00964140   IPI00963868   
Protein Interaction databases
DIP (DOE-UCLA)P48169
IntAct (EBI)P48169
FunCoupENSG00000109158
BioGRIDGABRA4
STRING (EMBL)GABRA4
ZODIACGABRA4
Ontologies - Pathways
QuickGOP48169
Ontology : AmiGOGABA-A receptor activity  extracellular ligand-gated ion channel activity  chloride channel activity  plasma membrane  integral component of plasma membrane  transport  gamma-aminobutyric acid signaling pathway  synaptic transmission  central nervous system development  benzodiazepine receptor activity  cell junction  ion transmembrane transport  chloride channel complex  postsynaptic membrane  transmembrane transport  chloride transmembrane transport  regulation of response to drug  
Ontology : EGO-EBIGABA-A receptor activity  extracellular ligand-gated ion channel activity  chloride channel activity  plasma membrane  integral component of plasma membrane  transport  gamma-aminobutyric acid signaling pathway  synaptic transmission  central nervous system development  benzodiazepine receptor activity  cell junction  ion transmembrane transport  chloride channel complex  postsynaptic membrane  transmembrane transport  chloride transmembrane transport  regulation of response to drug  
Pathways : BIOCARTACardiac Protection Against ROS [Genes]    Gamma-aminobutyric Acid Receptor Life Cycle [Genes]   
Pathways : KEGGNeuroactive ligand-receptor interaction    Retrograde endocannabinoid signaling    GABAergic synapse    Morphine addiction    Nicotine addiction   
NDEx NetworkGABRA4
Atlas of Cancer Signalling NetworkGABRA4
Wikipedia pathwaysGABRA4
Orthology - Evolution
OrthoDB2557
GeneTree (enSembl)ENSG00000109158
Phylogenetic Trees/Animal Genes : TreeFamGABRA4
HOVERGENP48169
HOGENOMP48169
Homologs : HomoloGeneGABRA4
Homology/Alignments : Family Browser (UCSC)GABRA4
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGABRA4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GABRA4
dbVarGABRA4
ClinVarGABRA4
1000_GenomesGABRA4 
Exome Variant ServerGABRA4
ExAC (Exome Aggregation Consortium)GABRA4 (select the gene name)
Genetic variants : HAPMAP2557
Genomic Variants (DGV)GABRA4 [DGVbeta]
DECIPHER (Syndromes)4:46920917-46996424  ENSG00000109158
CONAN: Copy Number AnalysisGABRA4 
Mutations
ICGC Data PortalGABRA4 
TCGA Data PortalGABRA4 
Broad Tumor PortalGABRA4
OASIS PortalGABRA4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGABRA4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGABRA4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GABRA4
DgiDB (Drug Gene Interaction Database)GABRA4
DoCM (Curated mutations)GABRA4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GABRA4 (select a term)
intoGenGABRA4
Cancer3DGABRA4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM137141   
Orphanet
MedgenGABRA4
Genetic Testing Registry GABRA4
NextProtP48169 [Medical]
TSGene2557
GENETestsGABRA4
Huge Navigator GABRA4 [HugePedia]
snp3D : Map Gene to Disease2557
BioCentury BCIQGABRA4
ClinGenGABRA4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2557
Chemical/Pharm GKB GenePA28492
Clinical trialGABRA4
Miscellaneous
canSAR (ICR)GABRA4 (select the gene name)
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGABRA4
EVEXGABRA4
GoPubMedGABRA4
iHOPGABRA4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 12:05:37 CET 2017

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