Gabrd gamma-aminobutyric acid (GABA) A receptor, subunit delta [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gabrdprovided by MGI
Official Full Name: gamma-aminobutyric acid (GABA) A receptor, subunit deltaprovided by MGI
Primary source: MGI:MGI:95622
See related: Ensembl:ENSMUSG00000029054 AllianceGenome:MGI:95622
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential. Predicted to be involved in several processes, including chemical synaptic transmission; chloride transmembrane transport; and regulation of membrane potential. Predicted to act upstream of or within chloride transport. Located in axon; dendrite; and neuronal cell body. Is integral component of postsynaptic membrane. Is active in GABA-ergic synapse. Is expressed in several structures, including brain; metanephros; respiratory system; sensory organ; and ventricular layer. Used to study postpartum depression. Human ortholog(s) of this gene implicated in idiopathic generalized epilepsy 10. Orthologous to human GABRD (gamma-aminobutyric acid type A receptor subunit delta). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in cerebellum adult (RPKM 60.1), cortex adult (RPKM 29.6) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 4 E2; 4 86.17 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (155469437..155482528, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (155384979..155398098, complement)

Chromosome 4 - NC_000070.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
High ethanol preference and dissociated memory are co-occurring phenotypes associated with hippocampal GABAAR-delta receptor levels.
Title: High ethanol preference and dissociated memory are co-occurring phenotypes associated with hippocampal GABA(A)R-δ receptor levels.
Cerebellum-Specific Deletion of the GABAA Receptor delta Subunit Leads to Sex-Specific Disruption of Behavior.
Title: Cerebellum-Specific Deletion of the GABA(A) Receptor δ Subunit Leads to Sex-Specific Disruption of Behavior.
Results suggest that GABAA([delta])R preferentially affects the anxiety-like behavior in open field test in a development-dependent manner, but only in female mice.
Title: Gender-dependent regulation of anxiety-like behavior by δ subunit-containing GABAA receptor during postnatal development.
Knockdown of Ttr in cultured cerebellar granule neurons significantly decreased the delta receptor expression; whereas overexpressing Ttr in cortical neurons increased the delta receptor expression. In vivo analysis of Ttr-/- mice revealed a significant decrease of the surface expression of the delta-GABAA-Rs in cerebellar granule neurons. Together, studies identified Ttr as a novel regulator of the delta-GABAA-Rs.
Title: Identification of transthyretin as a novel interacting partner for the δ subunit of GABAA receptors.
Using mice with or without deletion of GABRD and protocols in which the conditioned tone stimuli were cross presented with different nonconditioned stimuli, study showed that when the 2 tone stimuli were largely similar, both genotypes froze similarly to either of them. However, when they differed markedly, the knockout mice froze much more than their wild-type littermates to the nonconditioned but not conditioned stimuli
Title: δ Subunit-containing GABA(A) receptor prevents overgeneralization of fear in adult mice.
findings suggest that GABAA(delta)R serves as a brake rather than a mediator of GABAergic inhibition in Lateral Amygdala.
Title: Delta Subunit-Containing Gamma-Aminobutyric Acid A Receptor Disinhibits Lateral Amygdala and Facilitates Fear Expression in Mice.
Reduced GABAA R delta subunit expression and function in dentate gyrus granule cells is sufficient to induce deficits in learning and memory in mice. Findings suggest that the reduction in GABAA R delta subunit-mediated tonic inhibition in dentate gyrus granule cells contributes, at least in part, to deficits in learning and memory associated with chronic stress.
Title: Reduced tonic inhibition in the dentate gyrus contributes to chronic stress-induced impairments in learning and memory.
These data suggest that pubertal synaptic pruning requires alpha4betadelta GABA-A receptors.
Title: Synaptic pruning in the female hippocampus is triggered at puberty by extrasynaptic GABAA receptors on dendritic spines.
GABA A receptors delta subunit are necessary for synaptic plasticity in the CA3 field of hippocampus and for memory behavior.
Title: δGABAA Receptors Are Necessary for Synaptic Plasticity in the Hippocampus: Implications for Memory Behavior.

Submit: New GeneRIF Correction See all GeneRIFs (35)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (5) 1 citation

General gene information

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Markers

PMC23157P1 (e-PCR)
- UniSTS:272193

Gabrd (e-PCR), detects polymorphism
- UniSTS:525653

AI853201 (e-PCR)
- UniSTS:164275

NoName (e-PCR)
- UniSTS:491235

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GABA-A receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables GABA-A receptor activity	ISO Inferred from Sequence Orthology more info
contributes_to chloride channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables extracellular ligand-gated monoatomic ion channel activity	IEA Inferred from Electronic Annotation more info
enables monoatomic ion channel activity	IEA Inferred from Electronic Annotation more info
enables neurotransmitter receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane signaling receptor activity	IEA Inferred from Electronic Annotation more info
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IDA Inferred from Direct Assay more info	PubMed
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in chemical synaptic transmission	ISO Inferred from Sequence Orthology more info
involved_in chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within chloride transport	IEA Inferred from Electronic Annotation more info
involved_in gamma-aminobutyric acid signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of membrane potential	IBA Inferred from Biological aspect of Ancestor more info
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	ISO Inferred from Sequence Orthology more info
is_active_in GABA-ergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in GABA-ergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in GABA-ergic synapse	ISO Inferred from Sequence Orthology more info
located_in axon	IDA Inferred from Direct Assay more info	PubMed
part_of chloride channel complex	IEA Inferred from Electronic Annotation more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in postsynaptic membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic membrane	ISO Inferred from Sequence Orthology more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info
part_of transmembrane transporter complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: gamma-aminobutyric acid receptor subunit delta

Names: GABA(A) receptor subunit delta

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.

mRNA and Protein(s)

NM_001421172.1 → NP_001408101.1 gamma-aminobutyric acid receptor subunit delta isoform 2 precursor

Status: VALIDATED

Source sequence(s)

AL670227
NM_001421173.1 → NP_001408102.1 gamma-aminobutyric acid receptor subunit delta isoform 3 precursor

Status: VALIDATED

Source sequence(s)

AL670227
NM_008072.3 → NP_032098.2 gamma-aminobutyric acid receptor subunit delta isoform 1 precursor

See identical proteins and their annotated locations for NP_032098.2

Status: VALIDATED

Source sequence(s)

AL670227

Consensus CDS

CCDS19028.1

UniProtKB/Swiss-Prot

P22933

UniProtKB/TrEMBL

Q14AH9, Q8VBV6

Related

ENSMUSP00000030925.3, ENSMUST00000030925.3

Conserved Domains (2) summary

pfam02931
Location:44 → 246

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:255 → 333

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

155469437..155482528 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036163680.1 → XP_036019573.1 gamma-aminobutyric acid receptor subunit delta isoform X2

UniProtKB/TrEMBL

Q8VBV6

Conserved Domains (4) summary

cd03558
Location:198 → 212

LGIC_ECD; Cys-loop [structural motif]

cd03559
Location:290 → 316

LGIC_TM; TM3 helix [structural motif]

cl28912
Location:97 → 265

LGIC_ECD; extracellular domain (ECD) of Cys-loop neurotransmitter-gated ion channels (also known as ligand-gated ion channel (LGIC))

cl38911
Location:265 → 319

LGIC_TM; transmembrane domain of Cys-loop neurotransmitter-gated ion channels