GABRD

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Tissue enriched (cerebral cortex)
GTEx:Group enriched (cerebellum, cerebral cortex)

Protein evidence

Evidence at protein level

Protein localization

Selective expression in CNS.

ANTIBODY RELIABILITY

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Data reliability
description

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

Data reliability

Supportive based on 1 antibody.
HPA044371
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Hippocampus

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (cerebral cortex)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (cerebellum, cerebral cortex)

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

2563

UniProt

O14764 (UniProt - Evidence at protein level)

neXtProt

NX_O14764

Antibodypedia

GABRD antibodies


PROTEIN BROWSER

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ENST00000378585
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GABRD-001 ENSP00000367848
ENST00000378585
O14764
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