Glra2 glycine receptor, alpha 2 subunit [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Glra2provided by MGI
Official Full Name: glycine receptor, alpha 2 subunitprovided by MGI
Primary source: MGI:MGI:95748
See related: Ensembl:ENSMUSG00000018589 AllianceGenome:MGI:95748
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 monoatomic ion channel activity involved in regulation of postsynaptic membrane potential. Involved in modulation of chemical synaptic transmission. Is active in GABA-ergic synapse; glycinergic synapse; and postsynaptic specialization membrane. Is expressed in brain; spinal cord; and vascular element. Human ortholog(s) of this gene implicated in syndromic X-linked intellectual disability Pilorge type. Orthologous to human GLRA2 (glycine receptor alpha 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in CNS E18 (RPKM 14.3), whole brain E14.5 (RPKM 8.6) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: X F5; X 76.75 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (163912013..164110863, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (165129017..165327867, complement)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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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?

GLRA2 gene mutations cause high myopia in humans and mice.
Title: GLRA2 gene mutations cause high myopia in humans and mice.
T258F gain of function mutation in cerebellar granule cells modifies single-cell and neural network signaling.
Title: The role of tonic glycinergic conductance in cerebellar granule cell signalling and the effect of gain-of-function mutation.
alpha2 and alpha3 GlyRs are present in various regions of the forebrain and that alpha3 GlyRs specifically participate in tonic inhibition in the striatum and prefrontal cortex.
Title: Glycine receptor α3 and α2 subunits mediate tonic and exogenous agonist-induced currents in forebrain.
These results, which reveal neurodevelopmental roles for alpha2-GlyRs in the adult brain, may be clinically relevant, given that a mutation in GLAR2, as well as Adult hippocampal neurogenesis impairments.
Title: α2-glycine receptors modulate adult hippocampal neurogenesis and spatial memory.
Findings show that the loss of embryonic GlyRalpha2 ultimately impairs the formation of cortical circuits in the mature brain; results demonstrate a physiological role for alpha2 GlyRs during cortical network formation and homeostasis
Title: Cerebral Cortical Circuitry Formation Requires Functional Glycine Receptors.
genetic inactivation of Glra2, the gene coding the alpha2 subunit of GlyRs, disrupts dorsal cortical progenitor homeostasis with an impaired capability of apical progenitors to generate basal progenitors.
Title: Glycine receptors control the generation of projection neurons in the developing cerebral cortex.
Endogenous activation of Glra2 promotes neuronal migration by regulating nucleokinesis.
Title: Glycine receptor α2 subunit activation promotes cortical interneuron migration.
The distinct developmental regulation of GlyRalpha2 in the murine cochlea advocates a contribution of these chloride channels to efferent olivocochlear innervation.
Title: Developmental regulation of glycine receptors at efferent synapses of the murine cochlea.
Findings are the first to define GlyR subunit-specific control of visual function and GlyRalpha2 subunit-specific control of crossover inhibition in the retina.
Title: Selective glycine receptor α2 subunit control of crossover inhibition between the on and off retinal pathways.
Glycine receptors (GlyRs) of group II cells are dominated by the alpha2 subunit; GlyRs of ON-starburst amacrine cells appear to be dominated by the alpha4 subunit.
Title: Glycinergic input of widefield, displaced amacrine cells of the mouse retina.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXS6692 (e-PCR)
- UniSTS:149835

GLRA2 (e-PCR)
- UniSTS:506517

px-10_b1 (e-PCR)
- UniSTS:257247

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
contributes_to chloride channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables excitatory extracellular ligand-gated monoatomic ion channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables extracellularly glycine-gated chloride channel activity	IEA Inferred from Electronic Annotation more info
enables extracellularly glycine-gated chloride channel activity	ISO Inferred from Sequence Orthology more info
enables glycine binding	IEA Inferred from Electronic Annotation more info
enables glycine binding	ISO Inferred from Sequence Orthology more info
enables glycine-gated chloride ion channel activity	IEA Inferred from Electronic Annotation more info
enables glycine-gated chloride ion channel activity	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation 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 cellular response to amino acid stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to amino acid stimulus	ISO Inferred from Sequence Orthology more info
involved_in cellular response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in cellular response to ethanol	ISO Inferred from Sequence Orthology more info
involved_in cellular response to zinc ion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to zinc ion	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	IEA Inferred from Electronic Annotation more info
involved_in chloride transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in excitatory postsynaptic potential	IEA Inferred from Electronic Annotation more info
involved_in modulation of chemical synaptic transmission	EXP Inferred from Experiment more info	PubMed
involved_in modulation of chemical synaptic transmission	IDA Inferred from Direct Assay more info	PubMed
involved_in modulation of chemical synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in monoatomic ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in neuropeptide signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in neuropeptide signaling pathway	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in GABA-ergic synapse	IDA Inferred from Direct Assay more info	PubMed
located_in cell projection	IEA Inferred from Electronic Annotation more info
part_of chloride channel complex	IEA Inferred from Electronic Annotation more info
is_active_in glycinergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glycinergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in intracellular membrane-bounded organelle	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in postsynaptic specialization membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: glycine receptor subunit alpha-2

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_001357099.1 → NP_001344028.1 glycine receptor subunit alpha-2 isoform a precursor

Status: VALIDATED

Description

Transcript Variant: Variants 1 and 2 encode the same isoform (a). Isoforms a and b are the same length but differ in their sequence.

Source sequence(s)

AL672152, AL831734, BX465224

Consensus CDS

CCDS41206.1

UniProtKB/Swiss-Prot

Q7TNC8

UniProtKB/TrEMBL

Q3UTL8

Conserved Domains (1) summary

TIGR00860
Location:46 → 441

LIC; Cation transporter family protein
NM_001357100.1 → NP_001344029.1 glycine receptor subunit alpha-2 isoform b precursor

Status: VALIDATED

Description

Transcript Variant: This variant (3) encodes isoform b. Isoforms a and b are the same length but differ in their sequence.

Source sequence(s)

AL672152, AL831734, BX465224

Conserved Domains (1) summary

TIGR00860
Location:46 → 441

LIC; Cation transporter family protein
NM_183427.5 → NP_906272.1 glycine receptor subunit alpha-2 isoform a precursor

See identical proteins and their annotated locations for NP_906272.1

Status: VALIDATED

Description

Transcript Variant: Variants 1 and 2 encode the same isoform (a). Isoforms and b are the same length but differ in their sequence.

Source sequence(s)

AK139335, BC068987

Consensus CDS

CCDS41206.1

UniProtKB/Swiss-Prot

Q7TNC8

UniProtKB/TrEMBL

Q3UTL8

Related

ENSMUSP00000060827.9, ENSMUST00000058787.9

Conserved Domains (1) summary

TIGR00860
Location:46 → 441

LIC; Cation transporter family protein

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_000086.8 Reference GRCm39 C57BL/6J

Range

163912013..164110863 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030251336.1 → XP_030107196.1 glycine receptor subunit alpha-2 isoform X3

Conserved Domains (1) summary

TIGR00860
Location:11 → 385

LIC; Cation transporter family protein
XM_006528836.5 → XP_006528899.1 glycine receptor subunit alpha-2 isoform X2

Conserved Domains (1) summary

TIGR00860
Location:6 → 390

LIC; Cation transporter family protein
XM_006528834.1 → XP_006528897.1 glycine receptor subunit alpha-2 isoform X1

See identical proteins and their annotated locations for XP_006528897.1

UniProtKB/Swiss-Prot

Q7TNC8

UniProtKB/TrEMBL

Q3UTL8

Conserved Domains (1) summary

TIGR00860
Location:46 → 441

LIC; Cation transporter family protein
XM_036161944.1 → XP_036017837.1 glycine receptor subunit alpha-2 isoform X3

Conserved Domains (1) summary

TIGR00860
Location:11 → 385

LIC; Cation transporter family protein