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Aliases for GABRD Gene

Aliases for GABRD Gene

  • Gamma-Aminobutyric Acid Type A Receptor Delta Subunit 2 3 5
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Delta 2 3
  • GABA(A) Receptor Subunit Delta 3 4
  • GABA(A) Receptor, Delta 2 3
  • Gamma-Aminobutyric Acid Receptor Subunit Delta 3
  • GABA-A Receptor, Delta Polypeptide 3
  • GEFSP5 3
  • EIG10 3
  • EJM7 3

External Ids for GABRD Gene

Previous GeneCards Identifiers for GABRD Gene

  • GC01P001512
  • GC01P001913
  • GC01P9L0120
  • GC00M9Y0062
  • GC01P001234
  • GC01P001950

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 Type A Receptor Delta Subunit) is a Protein Coding gene. Diseases associated with GABRD include Epilepsy, Generalized, With Febrile Seizures Plus, Type 5 and Gabrd-Related Generalized Epilepsy With Febrile Seizures Plus. Among its related pathways are GABAergic synapse and Sweet Taste Signaling. GO annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRB3.

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 and, along with GABAB receptors, are responsible for mediating the inhibitory effects of GABA. They are pentameric proteins, consisting of five subunits belonging to different families.

Gene Wiki entry for GABRD Gene

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

Genomics for GABRD Gene

Regulatory Elements for GABRD Gene

Enhancers for GABRD Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G001906 2.1 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -111.1 -111111 4.3 HDGF PKNOX1 FOXA2 MLX CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 LOC105378949 ENSG00000240731 CALML6 CCNL2 LOC100288379 TMEM52 NOC2L GABRD CFAP74 LOC105378589
GH01G001913 1.3 ENCODE dbSUPER 11.5 -101.7 -101725 7.7 HDGF PKNOX1 MLX AGO1 ZFP64 ARID4B SIN3A DMAP1 FEZF1 ZNF143 LOC105378949 TMEM52 CALML6 CFAP74 LOC105378589 GABRD
GH01G001989 1.1 Ensembl ENCODE 12.9 -29.1 -29124 1.7 HDAC1 PKNOX1 ATF1 ZNF473 ARID4B DMAP1 ZNF48 TCF12 EGR1 CREM LOC105378589 GABRD TMEM52 CALML6 LOC105378591 PRKCZ ENSG00000272512 CFAP74 PIR40513
GH01G002069 1 ENCODE 11.8 +52.5 52500 4.3 ATF1 PKNOX1 ARID4B SIN3A SP5 REST SREBF1 MBD2 MAFF RFX3 GABRD LOC105378589 CFAP74 PRKCZ SCNN1D GC01M002070 GC01P002058
GH01G001922 0.9 ENCODE 11.5 -96.3 -96263 2.0 MLX ARID4B DMAP1 ZNF48 RARA EGR2 THAP11 SP5 MXD4 KAT8 LOC105378949 TMEM52 CFAP74 LOC105378589 GABRD GC01P001930
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GABRD on UCSC Golden Path with GeneCards custom track

Genomic Location for GABRD Gene

Chromosome:
1
Start:
2,019,298 bp from pter
End:
2,030,758 bp from pter
Size:
11,461 bases
Orientation:
Plus strand

Genomic View for GABRD Gene

Genes around GABRD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GABRD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GABRD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for GABRD Gene

  • Glycosylation at Asn103 and isoforms=106
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for GABRD (GABA-A R delta)
  • Santa Cruz Biotechnology (SCBT) Antibodies for GABRD

No data available for DME Specific Peptides for GABRD Gene

Domains & Families for GABRD Gene

Gene Families for GABRD Gene

Suggested Antigen Peptide Sequences for GABRD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O14764

UniProtKB/Swiss-Prot:

GBRD_HUMAN :
  • 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.
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.
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 contributes_to GABA-A receptor activity IBA --
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

Human Phenotype Ontology for GABRD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GABRD Gene

MGI Knock Outs for GABRD:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GABRD gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 1
peroxisome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GABRD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane TAS 2176788
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GABRD: view

Pathways & Interactions for GABRD Gene

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

Pathways by source for GABRD Gene

Gene Ontology (GO) - Biological Process for GABRD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS,IEA 2176788
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0007165 signal transduction TAS 2176788
GO:0007268 chemical synaptic transmission IEA --
genes like me logo Genes that share ontologies with GABRD: view

No data available for SIGNOR curated interactions for GABRD Gene

Drugs & Compounds for GABRD Gene

(69) Drugs for GABRD Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adinazolam Approved Pharma agonist, Target, potentiator 0
Bromazepam Approved, Illicit Pharma binder, Target, potentiator 2
Chlordiazepoxide Approved, Illicit Pharma agonist, Target, positive allosteric modulator 5
Cinolazepam Approved Pharma binder, Target, potentiator 0
Clobazam Approved, Illicit Pharma antagonist, Target, positive allosteric modulator 20

(3) Additional Compounds for GABRD Gene - From: HMDB and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
THIP
Agonist
Alpha-hydroxyalprazolam
37115-43-8
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6

(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
Muscimol Potent GABAA agonist 2763-96-4
SR 95531 hydrobromide Selective, competitive GABAA receptor antagonist 104104-50-9
TP 003 Functionally selective GABAA receptor (alpha3 subtype) partial agonist 628690-75-5

(8) ApexBio Compounds for GABRD Gene

Compound Action Cas Number
(R)-baclofen 69308-37-8
Etomidate General anesthetic with GABA modulatory and GABA-mimetic actions 33125-97-2
Flumazenil Benzodiazepine antagonist 78755-81-4
Gabapentin GABA enhancer 60142-96-3
Nefiracetam 77191-36-7
Niflumic acid Ca2+-activated Cl- channel blocker 4394-00-7
Picrotoxin 124-87-8
Rufinamide 106308-44-5
genes like me logo Genes that share compounds with GABRD: view

Transcripts for GABRD Gene

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for GABRD Gene

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

This gene is overexpressed in Brain - Cerebellar Hemisphere (x13.5), Brain - Cerebellum (x13.5), Brain - Cortex (x5.0), and Brain - Frontal Cortex (BA9) (x4.6).

Protein differential expression in normal tissues from HIPED for GABRD Gene

This gene is overexpressed in Peripheral blood mononuclear cells (48.8) and Frontal cortex (20.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GABRD Gene



Protein tissue co-expression partners for GABRD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GABRD Gene:

GABRD

SOURCE GeneReport for Unigene cluster for GABRD Gene:

Hs.113882

Evidence on tissue expression from TISSUES for GABRD Gene

  • Nervous system(4.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GABRD Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • pituitary gland
  • scalp
  • skull
  • thyroid
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • anus
  • pelvis
  • penis
  • rectum
  • testicle
  • urethra
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with GABRD: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for GABRD Gene

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 34 35
  • 98.91 (n)
cow
(Bos Taurus)
Mammalia GABRD 34 35
  • 89.16 (n)
oppossum
(Monodelphis domestica)
Mammalia GABRD 35
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabrd 34
  • 87.07 (n)
dog
(Canis familiaris)
Mammalia GABRD 34 35
  • 86.91 (n)
mouse
(Mus musculus)
Mammalia Gabrd 34 16 35
  • 86.07 (n)
chicken
(Gallus gallus)
Aves GABRD 34 35
  • 75.54 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 41 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia gabrd 34
  • 67 (n)
zebrafish
(Danio rerio)
Actinopterygii gabrd 34 35
  • 74.43 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7589 36
  • 31 (a)
CG6927 36
  • 30 (a)
CG11340 36
  • 26 (a)
worm
(Caenorhabditis elegans)
Secernentea W10G11.16 36
  • 36 (a)
C39B10.2 36
  • 35 (a)
F11H8.2 36
  • 34 (a)
Y73F8A.2 36
  • 27 (a)
Species where no ortholog for GABRD was found in the sources mined by GeneCards:
  • 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
rs121434580 other, Generalized epilepsy with febrile seizures plus 5 (GEFS+5) [MIM:613060] 2,027,636(+) GCAGG(A/C)GTGCA reference, missense
rs139300921 Generalized epilepsy with febrile seizures plus 5 (GEFS+5) [MIM:613060] 2,028,259(+) GCTAC(C/T)GCTTC reference, missense
rs1057519556 Uncertain significance 2,030,031(+) CCGGC(A/G)TCACG reference, missense
rs147463074 Uncertain significance 2,025,020(+) ATAGC(C/T)GGCTA reference, synonymous-codon
rs148908731 Uncertain significance 2,029,194(+) CCTCC(A/G)TCCTG reference, missense

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

Variant ID Type Subtype PubMed ID
esv2758913 CNV gain+loss 17122850
esv3577697 CNV loss 25503493
nsv482937 CNV loss 15286789
nsv834446 CNV loss 17160897
nsv951425 CNV deletion 24416366

Variation tolerance for GABRD Gene

Residual Variation Intolerance Score: 20.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.58; 30.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GABRD Gene

Human Gene Mutation Database (HGMD)
GABRD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GABRD

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GABRD Gene

Disorders for GABRD Gene

MalaCards: The human disease database

(12) MalaCards diseases for GABRD Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GABRD in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GBRD_HUMAN
  • 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.
  • 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.
  • 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.

Relevant External Links for GABRD

Genetic Association Database (GAD)
GABRD
Human Genome Epidemiology (HuGE) Navigator
GABRD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GABRD
genes like me logo Genes that share disorders with GABRD: view

No data available for Genatlas for GABRD Gene

Publications for GABRD Gene

  1. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PMID: 19086053) GratacA^s M. … Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 3 46 64
  2. Genetical genomic determinants of alcohol consumption in rats and humans. (PMID: 19874574) Tabakoff B. … Hoffman P.L. (BMC Biol. 2009) 3 46 64
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  4. 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 46 64
  5. 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 64

Products for GABRD Gene

Sources for GABRD Gene

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