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: al... See more...

Aliases for GABRD Gene

Aliases for GABRD Gene

  • Gamma-Aminobutyric Acid Type A Receptor Subunit Delta 2 3 5
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Delta 2 3
  • Gamma-Aminobutyric Acid Receptor Subunit Delta 3 4
  • GABA(A) Receptor Subunit Delta 3 4
  • GABA(A) Receptor, Delta 2 3
  • Gamma-Aminobutyric Acid Type A Receptor Delta Subunit 3
  • GABA-A Receptor, Delta Polypeptide 3
  • GEFSP5 3
  • EIG10 3
  • GABRD 5
  • 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 Subunit Delta) is a Protein Coding gene. Diseases associated with GABRD include Epilepsy, Idiopathic Generalized 10 and Chromosome 1P36 Deletion Syndrome. Among its related pathways are Apoptosis Pathway and Akt Signaling. Gene Ontology (GO) annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRB1.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for GABRD Gene

Genomics for GABRD Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GABRD Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J002018 Promoter 1.1 EPDnew Ensembl 250.7 -0.1 -128 1.6 ZNF600 REST SIN3A EHMT2 MXD3 MIER2 ZNF664 EGR1 ARID4B EZH2 ENSG00000233542 GABRD LOC105378589 piR-42601 HSALNG0000217 CFAP74
GH01J002020 Enhancer 0.2 FANTOM5 258.4 +1.4 1437 0.3 GABRD ENSG00000233542 TMEM240 PRKCZ HSALNG0000218
GH01J001913 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.5 -101.8 -101755 7.7 SP1 MYC ZNF600 SSRP1 KLF9 CEBPA ZSCAN16 BRCA1 NFIC ZIC2 TMEM52 lnc-CFAP74-4 ENSG00000231050 UBE2J2 CALML6 CFAP74 ENSG00000233542 GABRD
GH01J001906 Promoter/Enhancer 1.9 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 11.5 -111.1 -111142 4.3 BCLAF1 SP1 ZNF207 NCOR1 ZNF654 ZNF600 MYC SSRP1 ZNF592 ZNF223 HSALNG0000204 lnc-TMEM52-2 ENSG00000231050 INTS11 ENSG00000240731 CALML6 CCNL2 CDK11A ENSG00000269737 C1orf159
GH01J002069 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 11.9 +52.8 52764 4.9 JUND RARA DMAP1 TEAD3 BCL11B ZNF205 CREM NR2C1 ATF1 EGR2 PRKCZ ENSG00000233542 GABRD CFAP74 SCNN1D HSALNG0000221 FAAP20
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GABRD on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GABRD

Top Transcription factor binding sites by QIAGEN in the GABRD gene promoter:
  • AREB6
  • Egr-3
  • NF-1
  • NF-1/L
  • NF-AT1
  • NF-AT4
  • NRSF form 1
  • NRSF form 2

Genomic Locations for GABRD Gene

Latest Assembly
chr1:2,019,329-2,030,758
(GRCh38/hg38)
Size:
11,430 bases
Orientation:
Plus strand

Previous Assembly
chr1:1,950,784-1,962,197
(GRCh37/hg19 by Entrez Gene)
Size:
11,414 bases
Orientation:
Plus strand

chr1:1,950,780-1,962,192
(GRCh37/hg19 by Ensembl)
Size:
11,413 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 Asn106
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GABRD Gene

Domains & Families for GABRD Gene

Gene Families for GABRD Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for GABRD Gene

InterPro:
Blocks:
  • Neurotransmitter-gated ion-channel
  • Gamma-aminobutyric acid A (GABAA) receptor signature
  • Gamma-aminobutyric-acid A receptor delta subunit signature

Suggested Antigen Peptide Sequences for GABRD Gene

GenScript: Design optimal peptide antigens:
  • GABA(A) receptor subunit delta (GBRD_HUMAN)

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

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.
GENATLAS Biochemistry:
gamma-aminobutyric acid (GABA) A receptor,ionotropic,delta,subunit,component of a pentameric receptor mediating inhibitory neurotransmission

Phenotypes From GWAS Catalog for GABRD Gene

Gene Ontology (GO) - Molecular Function for GABRD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0004890 contributes_to GABA-A receptor activity IEA,IBA 21873635
GO:0005216 ion channel activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005254 contributes_to chloride channel activity IEA,IBA 21873635
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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GABRD

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
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
lysosome 1
peroxisome 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (1)
  • Vesicles (1)
See all subcellular structures

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,IBA 21873635
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

1 Tocris pathway for GABRD Gene
2 Qiagen pathways for GABRD Gene
  • Akt Signaling
  • Sperm Motility

Gene Ontology (GO) - Biological Process for GABRD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0007165 signal transduction TAS,IBA 21873635
GO:0007268 chemical synaptic transmission IEA,IBA 21873635
GO:0034220 ion transmembrane transport IEA,IBA 21873635
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bromazepam Approved, Illicit, Investigational Pharma Target, positive allosteric modulator, binder 3
Chlordiazepoxide Approved, Illicit, Investigational Pharma Target, positive allosteric modulator, agonist 5
Clobazam Approved, Illicit Pharma Target, positive allosteric modulator, antagonist 26
Clonazepam Approved, Illicit Pharma Target, positive allosteric modulator, agonist 42
Clorazepate Approved, Illicit Pharma Target, positive allosteric modulator, agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
THIP
Agonist, Full agonist
Alpha-hydroxyalprazolam
  • a-Hydroxyalprazolam
  • Α-hydroxyalprazolam
  • alpha-Hydroxyalprazolam
37115-43-8
gaba
56-12-2

(4) Tocris Compounds for GABRD Gene

Compound Action Cas Number
Acamprosate calcium GABA agonist and glutamatergic modulator 77337-73-6
GABA Endogenous agonist 56-12-2
TACA GABAA agonist. Also GABA-T substrate and GABA uptake inhibitor 38090-53-8
ZAPA sulfate Agonist at 'low affinity' GABAA receptor. More potent than GABA/muscimol 371962-01-5

(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

Drug products for research

Transcripts for GABRD Gene

mRNA/cDNA for GABRD Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GABRD

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

No ASD Table

Relevant External Links for GABRD Gene

GeneLoc Exon Structure for
GABRD

Expression for GABRD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for GABRD Gene



Protein tissue co-expression partners for GABRD Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
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 for research

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 29 30
  • 98.91 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GABRD 29 30
  • 89.16 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GABRD 30
  • 89 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gabrd 29
  • 87.07 (n)
Dog
(Canis familiaris)
Mammalia GABRD 29 30
  • 86.91 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gabrd 29 16 30
  • 86.07 (n)
OneToOne
Chicken
(Gallus gallus)
Aves GABRD 29 30
  • 75.54 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 41 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gabrd 29
  • 67 (n)
Zebrafish
(Danio rerio)
Actinopterygii gabrd 29 30
  • 74.43 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG7589 31
  • 31 (a)
CG6927 31
  • 30 (a)
CG11340 31
  • 26 (a)
Worm
(Caenorhabditis elegans)
Secernentea W10G11.16 31
  • 36 (a)
C39B10.2 31
  • 35 (a)
F11H8.2 31
  • 34 (a)
Y73F8A.2 31
  • 27 (a)
Species where no ortholog for GABRD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for GABRD: view image
Alliance of Genome Resources:
Additional Orthologs for GABRD

Paralogs for GABRD Gene

Variants for GABRD Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GABRD Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1000211 Uncertain Significance: Idiopathic generalized epilepsy 2,029,137(+) C/T
NM_000815.5(GABRD):c.718C>T (p.His240Tyr)
MISSENSE
1001565 Uncertain Significance: Idiopathic generalized epilepsy 2,025,354(+) C/A
NM_000815.5(GABRD):c.202C>A (p.Leu68Ile)
MISSENSE
1002316 Uncertain Significance: Idiopathic generalized epilepsy 2,030,146(+) G/A
NM_000815.5(GABRD):c.1223G>A (p.Arg408His)
MISSENSE
1003363 Uncertain Significance: Idiopathic generalized epilepsy 2,025,647(+) G/A
NM_000815.5(GABRD):c.379G>A (p.Val127Met)
MISSENSE
1004013 Uncertain Significance: Idiopathic generalized epilepsy 2,030,064(+) C/T
NM_000815.5(GABRD):c.1141C>T (p.Arg381Cys)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GABRD Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for GABRD Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for GABRD Gene

MalaCards: The human disease database

(32) MalaCards diseases for GABRD Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
epilepsy, idiopathic generalized 10
  • epilepsy, idiopathic generalized, susceptibility to, 10
chromosome 1p36 deletion syndrome
  • monosomy 1p36 syndrome
generalized epilepsy with febrile seizures plus
  • gefs+
febrile seizures
  • seizures febrile
epilepsy, myoclonic juvenile
  • ejm
- 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
  • 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 variants 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 variants 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 variants affecting the gene represented in this entry.

Additional Disease Information for GABRD

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GABRD: view

No data available for Genatlas for GABRD Gene

Publications for GABRD Gene

  1. GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. (PMID: 15115768) Dibbens LM … Mulley JC (Human molecular genetics 2004) 3 4 72
  2. The quest for juvenile myoclonic epilepsy genes. (PMID: 23756480) Delgado-Escueta AV … Durón RM (Epilepsy & behavior : E&B 2013) 3 72
  3. 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) Gratacòs M … Psychiatric Genetics Network Group (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 40
  4. Genetical genomic determinants of alcohol consumption in rats and humans. (PMID: 19874574) Tabakoff B … WHO/ISBRA Study on State and Trait Markers of Alcoholism (BMC biology 2009) 3 40
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4

Products for GABRD Gene

Sources for GABRD Gene