Human Gene GABRD (ENST00000378585.7) from GENCODE V44
  Description: Homo sapiens gamma-aminobutyric acid type A receptor subunit delta (GABRD), mRNA. (from RefSeq NM_000815)
RefSeq Summary (NM_000815): 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].
Gencode Transcript: ENST00000378585.7
Gencode Gene: ENSG00000187730.9
Transcript (Including UTRs)
   Position: hg38 chr1:2,019,345-2,030,758 Size: 11,414 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg38 chr1:2,019,424-2,030,282 Size: 10,859 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:2,019,345-2,030,758)mRNA (may differ from genome)Protein (452 aa)
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GBRD_HUMAN
DESCRIPTION: RecName: Full=Gamma-aminobutyric acid receptor subunit delta; AltName: Full=GABA(A) receptor subunit delta; Flags: Precursor;
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.
SUBUNIT: Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho.
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
DISEASE: Defects in GABRD are the cause of susceptibility to generalized epilepsy with febrile seizures plus type 5 (GEFS+5) [MIM:613060]. Generalized epilepsy with febrile seizures-plus refers to a rare 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. GEFS+ is a disease combining febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity.
DISEASE: Defects in GABRD are the cause of susceptibility to epilepsy, idiopathic generalized type 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.
DISEASE: Defects in GABRD are the cause of susceptibility to juvenile myoclonic epilepsy type 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.
SIMILARITY: 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.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GABRD
Diseases sorted by gene-association score: epilepsy, generalized, with febrile seizures plus, type 5* (1017), gabrd-related generalized epilepsy with febrile seizures plus* (100), gabrd-related juvenile myoclonic epilepsy* (100), generalized epilepsy with febrile seizures plus* (28), chromosome 1p36 deletion syndrome* (24), febrile seizures (22), epilepsy (9), idiopathic generalized epilepsy (9), baraitser-winter syndrome (7), adolescence-adult electroclinical syndrome (6), epileptic encephalopathy, early infantile, 6 (4), focal epilepsy (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 271.86 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 865.97 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -31.6079-0.400 Picture PostScript Text
3' UTR -197.70476-0.415 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006028 - GABAA_rcpt
IPR008098 - GABAAd_rcpt
IPR006202 - Neur_chan_lig-bd
IPR006201 - Neur_channel
IPR006029 - Neurotrans-gated_channel_TM
IPR018000 - Neurotransmitter_ion_chnl_CS

Pfam Domains:
PF02931 - Neurotransmitter-gated ion-channel ligand binding domain
PF02932 - Neurotransmitter-gated ion-channel transmembrane region

ModBase Predicted Comparative 3D Structure on O14764
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004888 transmembrane signaling receptor activity
GO:0004890 GABA-A receptor activity
GO:0005216 ion channel activity
GO:0005230 extracellular ligand-gated ion channel activity
GO:0005254 chloride channel activity
GO:0005515 protein binding

Biological Process:
GO:0006811 ion transport
GO:0006821 chloride transport
GO:0007165 signal transduction
GO:0007268 chemical synaptic transmission
GO:0034220 ion transmembrane transport
GO:1902476 chloride transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0034707 chloride channel complex
GO:0045202 synapse
GO:0045211 postsynaptic membrane
GO:1902711 GABA-A receptor complex


-  Descriptions from all associated GenBank mRNAs
  AK290861 - Homo sapiens cDNA FLJ75677 complete cds, highly similar to Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.
BC033801 - Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta, mRNA (cDNA clone MGC:45284 IMAGE:5171119), complete cds.
AB385062 - Synthetic construct DNA, clone: pF1KB5199, Homo sapiens GABRD gene for gamma-aminobutyric-acid receptor subunit delta precursor, complete cds, without stop codon, in Flexi system.
DQ892050 - Synthetic construct clone IMAGE:100004680; FLH182700.01X; RZPDo839B03140D gamma-aminobutyric acid (GABA) A receptor, delta (GABRD) gene, encodes complete protein.
KJ896850 - Synthetic construct Homo sapiens clone ccsbBroadEn_06244 GABRD gene, encodes complete protein.
KR710855 - Synthetic construct Homo sapiens clone CCSBHm_00017686 GABRD (GABRD) mRNA, encodes complete protein.
KR710856 - Synthetic construct Homo sapiens clone CCSBHm_00017687 GABRD (GABRD) mRNA, encodes complete protein.
KR710857 - Synthetic construct Homo sapiens clone CCSBHm_00017688 GABRD (GABRD) mRNA, encodes complete protein.
AF016917 - Homo sapiens GABA-A receptor delta subunit (GABRD) mRNA, complete cds.
DQ587985 - Homo sapiens piRNA piR-55097, complete sequence.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04080 - Neuroactive ligand-receptor interaction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000378585.1, ENST00000378585.2, ENST00000378585.3, ENST00000378585.4, ENST00000378585.5, ENST00000378585.6, GBRD_HUMAN, NM_000815, O14764, Q8N4N9, uc001aip.1, uc001aip.2, uc001aip.3, uc001aip.4, uc001aip.5
UCSC ID: ENST00000378585.7
RefSeq Accession: NM_000815
Protein: O14764 (aka GBRD_HUMAN or GAD_HUMAN)
CCDS: CCDS36.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.