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Aliases for GABRD Gene

Aliases for GABRD Gene

  • Gamma-Aminobutyric Acid (GABA) A Receptor, Delta 2 3
  • GABA(A) Receptor Subunit Delta 3 4
  • GEFSP5 3 6
  • EIG10 3 6
  • EJM7 3 6
  • Gamma-Aminobutyric Acid Receptor Subunit Delta 3
  • GABA-A Receptor, Delta Polypeptide 3
  • GABA(A) Receptor, Delta 3
  • GABA(A) Receptor 2
  • Delta 2

External Ids for GABRD Gene

Summaries for GABRD Gene

Entrez Gene Summary for GABRD Gene

  • Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for GABRD Gene

GABRD (Gamma-Aminobutyric Acid (GABA) A Receptor, Delta) is a Protein Coding gene. Diseases associated with GABRD include 1p36 deletion syndrome and epilepsy, generalized, with febrile seizures plus, type 5. Among its related pathways are Akt Signaling and Apoptosis Pathway. GO annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRR1.

UniProtKB/Swiss-Prot for GABRD Gene

  • GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel

Tocris Summary for GABRD Gene

  • GABAA receptors are members of the cys-loop family of ligand-gated ion channels, responsible for mediating the inhibitory effects of GABA alongside GABAB and GABAC receptors. They are pentameric proteins, consisting of 5 subunits belonging to different families (alpha1-6, beta1-3, gamma1-3, delta, pi, epsilon, rho, theta). The most abundant GABAA receptor in the mammalian brain consist of two copies each of alpha1 and beta2 with a single gamma2 subunits. GABAA receptors contain an integral chloride channel, and have modulatory sites for benzodiazepines, barbiturates, neurosteroids and ethanol.

Gene Wiki entry for GABRD Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GABRD Gene

Genomics for GABRD Gene

Genomic Location for GABRD Gene

Start:
2,019,324 bp from pter
End:
2,030,753 bp from pter
Size:
11,430 bases
Orientation:
Plus strand

Genomic View for GABRD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GABRD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABRD Gene

Regulatory Elements for GABRD Gene

Proteins for GABRD Gene

  • Protein details for GABRD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14764-GBRD_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor subunit delta
    Protein Accession:
    O14764
    Secondary Accessions:
    • Q8N4N9

    Protein attributes for GABRD Gene

    Size:
    452 amino acids
    Molecular mass:
    50708 Da
    Quaternary structure:
    • Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho

neXtProt entry for GABRD Gene

Proteomics data for GABRD Gene at MOPED

Post-translational modifications for GABRD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GABRD Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GABRD Gene

Domains for GABRD Gene

Gene Families for GABRD Gene

HGNC:
  • GABRA :Ligand-gated ion channels / GABA(A) receptors
  • GABR :GABA receptors
IUPHAR :

UniProtKB/Swiss-Prot:

GBRD_HUMAN
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRD sub-subfamily.:
    • O14764
genes like me logo Genes that share domains with GABRD: view

Function for GABRD Gene

Molecular function for GABRD Gene

GENATLAS Biochemistry: gamma-aminobutyric acid (GABA) A receptor,ionotropic,delta,subunit,component of a pentameric receptor mediating inhibitory neurotransmission
UniProtKB/Swiss-Prot Function: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel

Gene Ontology (GO) - Molecular Function for GABRD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004890 GABA-A receptor activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005254 chloride channel activity IEA --
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with GABRD: view
genes like me logo Genes that share phenotypes with GABRD: view

Animal Models for GABRD Gene

MGI Knock Outs for GABRD:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for GABRD Gene

Localization for GABRD Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABRD Gene

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GABRD Gene COMPARTMENTS Subcellular localization image for GABRD gene
Compartment Confidence
plasma membrane 5
extracellular 2
golgi apparatus 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GABRD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS 2176788
GO:0016020 membrane --
GO:0016021 integral component of membrane --
GO:0030054 cell junction IEA --
GO:0034707 chloride channel complex IEA --
genes like me logo Genes that share ontologies with GABRD: view

Pathways for GABRD Gene

genes like me logo Genes that share pathways with GABRD: view

Pathways by source for GABRD Gene

1 Tocris pathway for GABRD Gene
1 R&D Systems pathway for GABRD Gene

Gene Ontology (GO) - Biological Process for GABRD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 2176788
GO:0006811 ion transport --
GO:0007165 signal transduction TAS 2176788
GO:0007268 synaptic transmission IEA --
GO:1902476 chloride transmembrane transport IEA --
genes like me logo Genes that share ontologies with GABRD: view

Compounds for GABRD Gene

(5) Tocris Compounds for GABRD Gene

Compound Action Cas Number
(-)-Bicuculline methiodide Water-soluble GABAA antagonist [40709-69-1]
(-)-Bicuculline methochloride Water-soluble GABAA antagonist [53552-05-9]
(+)-Bicuculline Potent GABAA antagonist [485-49-4]
Muscimol Potent GABAA agonist [2763-96-4]
SR 95531 hydrobromide Selective, competitive GABAA receptor antagonist [104104-50-9]

(2) HMDB Compounds for GABRD Gene

Compound Synonyms Cas Number PubMed IDs
Chlorine
  • Cl2
16887-00-6
Gamma-Aminobutyric acid
  • 3-Carboxypropylamine
56-12-2

(23) Drugbank Compounds for GABRD Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Adinazolam
37115-32-5 target potentiator
Alprazolam
28981-97-7 target potentiator
Bromazepam
  • 7-Bromo-5-(2-pyridyl)-3H-1,4-benzodiaxepin-2(1H)-one
1812-30-2 target potentiator
Chlordiazepoxide
58-25-3 target potentiator
Cinolazepam
75696-02-5 target potentiator

(3) IUPHAR Ligand for GABRD Gene

Ligand Type Action Affinity Pubmed IDs
TBPS Channel blocker None
THIP Agonist Agonist
picrotoxin Channel blocker None
genes like me logo Genes that share compounds with GABRD: view

Transcripts for GABRD Gene

mRNA/cDNA for GABRD Gene

(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(35) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GABRD Gene

Gamma-aminobutyric acid (GABA) A receptor, delta:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GABRD Gene

No ASD Table

Relevant External Links for GABRD Gene

GeneLoc Exon Structure for
GABRD
ECgene alternative splicing isoforms for
GABRD

Expression for GABRD Gene

mRNA expression in normal human tissues for GABRD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GABRD Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (13.5), Brain - Cerebellum (13.5), Brain - Cortex (5.0), and Brain - Frontal Cortex (BA9) (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GABRD Gene

SOURCE GeneReport for Unigene cluster for GABRD Gene Hs.113882

genes like me logo Genes that share expressions with GABRD: view

Orthologs for GABRD Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GABRD 36
  • 98.91 (n)
  • 100 (a)
GABRD 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GABRD 36
  • 89.16 (n)
  • 93.05 (a)
GABRD 37
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABRD 36
  • 86.91 (n)
  • 91.55 (a)
GABRD 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gabrd 36
  • 86.07 (n)
  • 93.76 (a)
Gabrd 16
Gabrd 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GABRD 37
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabrd 36
  • 87.07 (n)
  • 94.23 (a)
chicken
(Gallus gallus)
Aves GABRD 36
  • 75.54 (n)
  • 85.09 (a)
GABRD 37
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 41 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia gabrd 36
  • 67 (n)
  • 74.06 (a)
zebrafish
(Danio rerio)
Actinopterygii gabrd 36
  • 74.43 (n)
  • 81.65 (a)
gabrd 37
  • 74 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7589 38
  • 31 (a)
CG11340 38
  • 26 (a)
CG6927 38
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea Y73F8A.2 38
  • 27 (a)
C39B10.2 38
  • 35 (a)
W10G11.16 38
  • 36 (a)
F11H8.2 38
  • 34 (a)
Species with no ortholog for GABRD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GABRD Gene

ENSEMBL:
Gene Tree for GABRD (if available)
TreeFam:
Gene Tree for GABRD (if available)

Paralogs for GABRD Gene

genes like me logo Genes that share paralogs with GABRD: view

Variants for GABRD Gene

Sequence variations from dbSNP and Humsavar for GABRD Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs2229110 -- 2,025,598(+) CTGGG(C/T)CTGGA synonymous-codon, reference
rs2376805 -- 2,024,923(-) GCCAC(C/T)GGTCA intron-variant
rs2889475 -- 2,024,545(-) AAGAG(A/G)TCTCC intron-variant
rs3121818 -- 2,018,105(+) AGGCC(G/T)AGGCG upstream-variant-2KB
rs3121819 -- 2,020,388(+) CATTC(A/G)GGATC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GABRD Gene

Variant ID Type Subtype PubMed ID
dgv9e1 CNV Complex 17122850
dgv55n71 CNV Loss 21882294
dgv56n71 CNV Loss 21882294
nsv870914 CNV Loss 21882294
nsv834446 CNV Loss 17160897
dgv57n71 CNV Loss 21882294
dgv58n71 CNV Loss 21882294
nsv871701 CNV Loss 21882294

Relevant External Links for GABRD Gene

HapMap Linkage Disequilibrium report
GABRD
Human Gene Mutation Database (HGMD)
GABRD

Disorders for GABRD Gene

(1) OMIM Diseases for GABRD Gene (137163)

UniProtKB/Swiss-Prot

GBRD_HUMAN
  • Generalized epilepsy with febrile seizures plus 5 (GEFS+5) [MIM:613060]: A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. {ECO:0000269 PubMed:15115768}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Epilepsy, idiopathic generalized 10 (EIG10) [MIM:613060]: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Juvenile myoclonic epilepsy 7 (EJM7) [MIM:613060]: A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for GABRD Gene

Relevant External Links for GABRD

Genetic Association Database (GAD)
GABRD
Human Genome Epidemiology (HuGE) Navigator
GABRD
genes like me logo Genes that share disorders with GABRD: view

Publications for GABRD Gene

  1. The murine GABAA receptor delta-subunit gene: structure and assignment to human chromosome 1. (PMID: 2176788) Sommer B. … Seeburg P.H. (DNA Cell Biol. 1990) 2 3
  2. Assignment of the human GABAA receptor delta-subunit gene (GABRD) to chromosome band 1p36.3 distal to marker NIB1364 by radiation hybrid mapping. (PMID: 10965146) Emberger W. … Wagner K. (Cytogenet. Cell Genet. 2000) 2 3
  3. GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. (PMID: 15115768) Dibbens L.M. … Mulley J.C. (Hum. Mol. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy. (PMID: 16023832) Lenzen K.P. … Sander T. (Epilepsy Res. 2005) 3 49

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Sources for GABRD Gene

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