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GABRD

GENERAL INFORMATION

Gene name

 GABRD

Gene description

 Gamma-aminobutyric acid (GABA) A receptor, delta

Protein class

 Disease related genes
FDA approved drug targets
Predicted membrane proteins

Predicted localization

 Membrane

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enriched (cerebral cortex)
GTEx:Group enriched (cerebellum, cerebral cortex)
FANTOM5:Tissue enhanced (cerebellum, brain, caudate)

Protein evidence

 Evidence at protein level

Protein expression

 Selective expression in CNS.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Presumed off target binding observed and disregarded.

Reliability score

 Supported based on 1 antibody.
HPA044371
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Hippocampus

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (cerebral cortex)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (cerebellum, cerebral cortex)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (cerebellum, brain, caudate)

GENE INFORMATION

Gene name

 GABRD

Synonyms

Description

 Gamma-aminobutyric acid (GABA) A receptor, delta (HGNC Symbol)

Entrez gene summary

 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]

Chromosome

 1

Cytoband

 p36.33

Chromosome location (bp)

 2019324 - 2030751

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000187730 (version 83.38)

Entrez gene

 2563

UniProt

 O14764 (UniProt - Evidence at protein level)

neXtProt

 NX_O14764

Antibodypedia

 GABRD antibodies

PROTEIN BROWSER
GABRD-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
GABRD-001
ENSP00000367848
ENST00000378585
O14764 [Direct mapping]
Gamma-aminobutyric acid receptor subunit delta
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Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   4TM proteins predicted by MDM
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Show all
GO:0004890 [GABA-A receptor activity]
GO:0005230 [extracellular ligand-gated ion channel activity]
GO:0005254 [chloride channel activity]
GO:0005515 [protein binding]
GO:0005887 [integral component of plasma membrane]
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0007165 [signal transduction]
GO:0007268 [synaptic transmission]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0030054 [cell junction]
GO:0034707 [chloride channel complex]
GO:0042391 [regulation of membrane potential]
GO:0043005 [neuron projection]
GO:0045202 [synapse]
GO:0045211 [postsynaptic membrane]
GO:0050877 [neurological system process]
GO:1902476 [chloride transmembrane transport]
GO:1902711 [GABA-A receptor complex]
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 452 aa
50.7 kDa 		Yes 4

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.