Gabrr2 gamma-aminobutyric acid type A receptor subunit rho 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gabrr2provided by MGI
Official Full Name: gamma-aminobutyric acid type A receptor subunit rho 2provided by MGI
Primary source: MGI:MGI:95626
See related: Ensembl:ENSMUSG00000023267 AllianceGenome:MGI:95626
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 GABA-A receptor activity. Acts upstream of or within gamma-aminobutyric acid signaling pathway and visual perception. Is active in intracellular vesicle. Is expressed in central nervous system; gut; male reproductive gland or organ; and retina. Human ortholog(s) of this gene implicated in autistic disorder. Orthologous to human GABRR2 (gamma-aminobutyric acid type A receptor subunit rho2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 4 A5; 4 14.64 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (33057715..33095865)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (33057712..33095865)

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?

Mice lacking spinal alpha2GABAA receptors: Altered GABAergic neurotransmission, diminished GABAergic antihyperalgesia, and potential compensatory mechanisms preventing a hyperalgesic phenotype.
Title: Mice lacking spinal α2GABA(A) receptors: Altered GABAergic neurotransmission, diminished GABAergic antihyperalgesia, and potential compensatory mechanisms preventing a hyperalgesic phenotype.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (3)
Targeted (2)

General gene information

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Markers

Gabrr2 (e-PCR), detects polymorphism
- UniSTS:234041

NoName (e-PCR)
- UniSTS:234886

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	IMP Inferred from Mutant Phenotype more info	PubMed
enables GABA-A receptor activity	ISO Inferred from Sequence Orthology more info
enables GABA-A receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables GABA-gated chloride ion channel activity	ISS Inferred from Sequence or Structural Similarity 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 protein domain specific binding	IEA Inferred from Electronic Annotation more info
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA Inferred from Electronic Annotation more info
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	ISO Inferred from Sequence Orthology 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	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within chloride transport	TAS Traceable Author Statement more info	PubMed
NOT acts_upstream_of_or_within eye photoreceptor cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gamma-aminobutyric acid signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of postsynaptic membrane potential	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within visual perception	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of GABA-A receptor complex	IBA Inferred from Biological aspect of Ancestor more info
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in GABA-ergic synapse	ISO Inferred from Sequence Orthology more info
located_in axon	TAS Traceable Author Statement more info	PubMed
part_of chloride channel complex	IEA Inferred from Electronic Annotation more info
is_active_in intracellular vesicle	IDA Inferred from Direct Assay more info	PubMed
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 rho-2

Names: GABA(A) receptor subunit rho-2; GABA(C) receptor; GABAAR subunit rho-2; gamma-aminobutyric acid (GABA) C receptor, subunit rho 2; gamma-aminobutyric acid (GABA-A) receptor, subunit rho 2; gamma-aminobutyric acid receptor rho2 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.

mRNA and Protein(s)

NM_001420866.1 → NP_001407795.1 gamma-aminobutyric acid receptor subunit rho-2 isoform 2 precursor

Status: VALIDATED

Source sequence(s)

AL670464

UniProtKB/Swiss-Prot

P56476, Q6PEP0
NM_001420867.1 → NP_001407796.1 gamma-aminobutyric acid receptor subunit rho-2 isoform 3

Status: VALIDATED

Source sequence(s)

AL670464

UniProtKB/Swiss-Prot

P56476, Q6PEP0
NM_008076.4 → NP_032102.2 gamma-aminobutyric acid receptor subunit rho-2 isoform 1 precursor

See identical proteins and their annotated locations for NP_032102.2

Status: VALIDATED

Source sequence(s)

AL670464

Consensus CDS

CCDS18020.1

UniProtKB/Swiss-Prot

P56476, Q6PEP0

Related

ENSMUSP00000103797.2, ENSMUST00000108162.8

Conserved Domains (3) summary

TIGR00860
Location:74 → 489

LIC; Cation transporter family protein

pfam02931
Location:87 → 286

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:293 → 486

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RNA

NR_185208.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL670464
NR_185209.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL670464

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

33057715..33095865

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006537616.3 → XP_006537679.1 gamma-aminobutyric acid receptor subunit rho-2 isoform X1

UniProtKB/Swiss-Prot

P56476, Q6PEP0

Conserved Domains (2) summary

TIGR00860
Location:15 → 430

LIC; Cation transporter family protein

cd19005
Location:42 → 227

LGIC_ECD_GABAAR_rho; extracellular domain of gamma-aminobutyric acid receptor subunit rho
XM_036163682.1 → XP_036019575.1 gamma-aminobutyric acid receptor subunit rho-2 isoform X2

UniProtKB/Swiss-Prot

P56476, Q6PEP0

Conserved Domains (2) summary

TIGR00860
Location:12 → 415

LIC; Cation transporter family protein

cd19005
Location:27 → 212

LGIC_ECD_GABAAR_rho; extracellular domain of gamma-aminobutyric acid receptor subunit rho