GABRD gamma-aminobutyric acid type A receptor subunit delta [Homo sapiens (human)] - Gene

Summary

Official Symbol: GABRDprovided by HGNC
Official Full Name: gamma-aminobutyric acid type A receptor subunit deltaprovided by HGNC
Primary source: HGNC:HGNC:4084
See related: Ensembl:ENSG00000187730 MIM:137163; AllianceGenome:HGNC:4084
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EJM7; EIG10; GEFSP5; GABAARdelta
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]
Expression: Biased expression in brain (RPKM 6.5), testis (RPKM 1.0) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.33

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (2019345..2030758)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (1454897..1466310)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (1950784..1962197)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt.
Title: Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt.
The delta subunit of the GABAA receptor is necessary for the GPT2-promoted breast cancer metastasis.
Title: The delta subunit of the GABA(A) receptor is necessary for the GPT2-promoted breast cancer metastasis.
Association of GABA receptor delta subunit gene variations with increased risk of methamphetamine dependence.
Title: Association of GABA receptor delta subunit gene variations with increased risk of methamphetamine dependence.
Splice-Site Variants in the Gene Encoding GABA-A Receptor Delta Subunit Are Associated with Amphetamine Use in Patients under Methadone Maintenance Treatment.
Title: Splice-Site Variants in the Gene Encoding GABA-A Receptor Delta Subunit Are Associated with Amphetamine Use in Patients under Methadone Maintenance Treatment.
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.
Title: Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.
Association between GABA receptor delta subunit gene polymorphisms and heroin addiction.
Title: Association between GABA receptor delta subunit gene polymorphisms and heroin addiction.
Research for Expression and Prognostic Value of GABRD in Colon Cancer and Coexpressed Gene Network Construction Based on Data Mining.
Title: Research for Expression and Prognostic Value of GABRD in Colon Cancer and Coexpressed Gene Network Construction Based on Data Mining.
In IDH wild-type diffuse low-grade glioma patients preserved GABRD expression was independently associated with longer overall survival and reduced tumor infiltration macrophages(TIM). CpG methylation of cg13916816 showed a moderately negative correlation with GABRD expression.
Title: Systemic screening identifies GABRD, a subunit gene of GABAA receptor as a prognostic marker in adult IDH wild-type diffuse low-grade glioma.
This study found that increased methylation of the promoter of the delta subunit GABAA receptor was associated with reduced mRNA and protein levels in the cerebellum of alcohol use disorder subjects.
Title: Emerging Role of One-Carbon Metabolism and DNA Methylation Enrichment on δ-Containing GABAA Receptor Expression in the Cerebellum of Subjects with Alcohol Use Disorders (AUD).
Considering our Argentinean ASD sample, it can be inferred that GABRB3 would be involved in the etiology of autism through interaction with GABRD. These results support the hypothesis that GABAR subunit genes are involved in autism.
Title: Evidence for interaction between markers in GABA(A) receptor subunit genes in an Argentinean autism spectrum disorder population.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Epilepsy, idiopathic generalized, susceptibility to, 10 MedGen: C2751603 OMIM: 613060 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GABA-A receptor activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to chloride channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in chloride transmembrane transport	NAS Non-traceable Author Statement more info	PubMed
involved_in gamma-aminobutyric acid signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in gamma-aminobutyric acid signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in gamma-aminobutyric acid signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of postsynaptic membrane potential	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in synaptic transmission, GABAergic	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of GABA-A receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of GABA-A receptor complex	IPI Inferred from Physical Interaction more info	PubMed
part_of GABA-A receptor complex	ISS Inferred from Sequence or Structural Similarity more info
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
located_in axon	IEA Inferred from Electronic Annotation more info
part_of chloride channel complex	IEA Inferred from Electronic Annotation more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: gamma-aminobutyric acid receptor subunit delta

Names: GABA(A) receptor subunit delta; GABA(A) receptor, delta; GABA-A receptor, delta polypeptide; GABAAR subunit delta; gamma-aminobutyric acid (GABA) A receptor, delta; gamma-aminobutyric acid type A receptor delta subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008168.1 RefSeqGene

Range

5017..16430

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000815.5 → NP_000806.2 gamma-aminobutyric acid receptor subunit delta precursor

See identical proteins and their annotated locations for NP_000806.2

Status: REVIEWED

Source sequence(s)

AK290861, AL391845, AW291520, BC033801, DA060315

Consensus CDS

CCDS36.1

UniProtKB/Swiss-Prot

O14764, Q8N4N9

UniProtKB/TrEMBL

A8K496

Related

ENSP00000367848.4, ENST00000378585.7

Conserved Domains (2) summary

cd19001
Location:63 → 246

LGIC_ECD_GABAAR_delta; extracellular domain of gamma-aminobutyric acid receptor subunit delta

cd19055
Location:249 → 343

LGIC_TM_GABAAR_delta; transmembrane domain of delta subunits of type-A gamma-aminobutyric acid receptor (GABAAR)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

2019345..2030758

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011541194.4 → XP_011539496.1 gamma-aminobutyric acid receptor subunit delta isoform X2

See identical proteins and their annotated locations for XP_011539496.1

UniProtKB/TrEMBL

A8K496

Conserved Domains (2) summary

pfam02931
Location:57 → 259

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:268 → 381

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
XM_017000936.2 → XP_016856425.1 gamma-aminobutyric acid receptor subunit delta isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

1454897..1466310

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054335808.1 → XP_054191783.1 gamma-aminobutyric acid receptor subunit delta isoform X2
XM_054335807.1 → XP_054191782.1 gamma-aminobutyric acid receptor subunit delta isoform X1