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Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. GABRD, gamma-aminobutyric acid (GABA) A receptor, delta
Sequence ID:NM_000815
RefSeqGene ID:NG_008168
Entrez Gene ID:2563
Ensembl ID:ENSG00000187730

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer Aberrations

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1GABRG2
SCN1A
SCN1B
EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 5 

Cytogenetic Location (from UniGene)

Cytogenetic Location:1p36.3Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:1: 1950862 - 1961721

NM_000815 exon info from UCSC:

Transcript StartTranscript EndChromosomal Start Chromosomal End
116319507671950929
16427619563801956492
27734419567721956839
34556519569561957176
56664819590151959097
64978619595931959730
78794219605491960704
943115419609891961200
1155192519614211962191

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
5171119Full LengthBC033801gamma-aminobutyric acid (GABA) A receptor, delta

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000806  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_000815 NP_000806 O14764 Neur_chan_LBD
Neur_chan_memb

Related Sequences

 
mRNAGenPeptSwissProt
AF016917 AAB70007 O14764
BC033801 AAH33801 O14764
DQ892050 ABM82976  
AK290861 BAF83550 A8K496

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens GABRD NP_000806 R.norvegicus Gabrd 29689   NP_058985 93
M.musculus Gabrd 14403 Gene Info NP_032098 93

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)