Glrb glycine receptor, beta subunit [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Glrbprovided by MGI
Official Full Name: glycine receptor, beta subunitprovided by MGI
Primary source: MGI:MGI:95751
See related: Ensembl:ENSMUSG00000028020 AllianceGenome:MGI:95751
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
Also known as: spa; Glyrb; spastic
Summary: This gene encodes the beta subunit of the glycine receptor, which is a pentamer composed of alpha and beta subunits. The receptor functions as a neurotransmitter-gated ion channel, which produces hyperpolarization via increased chloride conductance due to the binding of glycine to the receptor. This gene is transcribed throughout the central nervous system of neonatal and adult mice. In humans, mutations in this gene cause startle disease, also known as hereditary hyperekplexia or congenital stiff-person syndrome, a disease characterized by muscular rigidity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Expression: Biased expression in cerebellum adult (RPKM 42.8), cortex adult (RPKM 30.7) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 E3; 3 35.71 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (80750905..80820994, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (80843598..80913660, complement)

Chromosome 3 - NC_000069.7 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?

A species-specific thymine-to-guanine sequence variation in the Glrb gene has been identified which gives rise to species-specific splice donor sites in the Glrb genes of mouse and bushbaby.
Title: Identification of a new genomic hot spot of evolutionary diversification of protein function.
The SdpI-binding site was mapped to a proline-rich sequence of 22 amino acids within the intracellular loop of GlyRbeta.
Title: Proteomic analysis of glycine receptor β subunit (GlyRβ)-interacting proteins: evidence for syndapin I regulating synaptic glycine receptors.
A retroelement modifies pre-mRNA splicing: the murine Glrb(spa) allele is a splicing signal polymorphism amplified by long interspersed nuclear element insertion.
Title: A retroelement modifies pre-mRNA splicing: the murine Glrb(spa) allele is a splicing signal polymorphism amplified by long interspersed nuclear element insertion.
The distinct developmental regulation of GlyRbeta 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.
Visual stimulation regulates maturation of retinal ganglion cell synaptic activity and connectivity primarily through glycine receptor-mediated synaptic transmission.
Title: Glycine receptor-mediated synaptic transmission regulates the maturation of ganglion cell synaptic connectivity.
Transcripts are detected in cerebral cortex, liver, and heart. Lack of exon 7 results in a profoundly altered prediction of transmembrane topology.
Title: A novel glycine receptor beta subunit splice variant predicts an unorthodox transmembrane topology. Assembly into heteromeric receptor complexes.
expressed within the germ cells of seminiferous tubules
Title: Detection of glycine receptor/Cl- channel beta subunit transcripts in mouse testis.
These results show that insulin has a novel regulatory action on the potency of glycine for ionotropic glycine receptors.
Title: Insulin increases the potency of glycine at ionotropic glycine receptors.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (3)
Spontaneous (2)
Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Glrb (e-PCR), detects polymorphism
- UniSTS:506937

AI853901 (e-PCR)
- UniSTS:165257

AF016099 (e-PCR)
- UniSTS:178849

Glrb (e-PCR), detects polymorphism
- UniSTS:536570

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	IMP Inferred from Mutant Phenotype more info	PubMed
contributes_to extracellularly glycine-gated chloride channel activity	ISO Inferred from Sequence Orthology more info
contributes_to extracellularly glycine-gated chloride channel activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables extracellularly glycine-gated ion channel activity	ISO Inferred from Sequence Orthology more info
enables extracellularly glycine-gated ion channel activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables glycine binding	IMP Inferred from Mutant Phenotype more info	PubMed
contributes_to glycine binding	ISO Inferred from Sequence Orthology more info
enables glycine binding	ISO Inferred from Sequence Orthology more info
contributes_to glycine binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology 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
acts_upstream_of_or_within acrosome reaction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within adult walking behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chemical synaptic transmission	ISO Inferred from Sequence Orthology more info
involved_in chemical synaptic transmission	ISS Inferred from Sequence or Structural Similarity more info	PubMed
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
involved_in chloride transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in excitatory postsynaptic potential	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within gamma-aminobutyric acid receptor clustering	IGI Inferred from Genetic Interaction more info	PubMed
involved_in monoatomic ion transport	ISO Inferred from Sequence Orthology more info
involved_in monoatomic ion transport	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in nervous system development	ISO Inferred from Sequence Orthology more info
involved_in nervous system development	ISS Inferred from Sequence or Structural Similarity more info	PubMed
acts_upstream_of_or_within neuromuscular process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuropeptide signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in neuropeptide signaling pathway	ISS Inferred from Sequence or Structural Similarity more info	PubMed
acts_upstream_of_or_within regulation of membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within righting reflex	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in startle response	ISO Inferred from Sequence Orthology more info
involved_in startle response	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in synaptic transmission, glycinergic	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within synaptic transmission, glycinergic	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptic transmission, glycinergic	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within visual perception	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in GABA-ergic synapse	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	ISA Inferred from Sequence Alignment more info	PubMed
located_in external side of plasma membrane	ISA Inferred from Sequence Alignment more info	PubMed
part_of glycine-gated chloride channel complex	ISO Inferred from Sequence Orthology more info
part_of glycine-gated chloride channel complex	ISS Inferred from Sequence or Structural Similarity 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
is_active_in glycinergic synapse	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISA Inferred from Sequence Alignment more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology 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
located_in postsynaptic specialization	IEA Inferred from Electronic Annotation more info
is_active_in postsynaptic specialization	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: glycine receptor subunit beta

Names: glycine receptor 58 kDa subunit; inhibitory glycine receptor

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_001281969.3 → NP_001268898.1 glycine receptor subunit beta isoform 7

Status: VALIDATED

Source sequence(s)

AC121908

UniProtKB/Swiss-Prot

P48168

Conserved Domains (2) summary

TIGR00860
Location:1 → 397

LIC; Cation transporter family protein

cl28912
Location:1 → 167

LGIC_ECD; extracellular domain (ECD) of Cys-loop neurotransmitter-gated ion channels (also known as ligand-gated ion channel (LGIC))
NM_001345955.2 → NP_001332884.1 glycine receptor subunit beta isoform 1 precursor

Status: VALIDATED

Source sequence(s)

AC121908

UniProtKB/Swiss-Prot

P48168
NM_001345956.2 → NP_001332885.1 glycine receptor subunit beta isoform 2 precursor

Status: VALIDATED

Source sequence(s)

AC121908

UniProtKB/Swiss-Prot

P48168
NM_001345957.2 → NP_001332886.1 glycine receptor subunit beta isoform 3 precursor

Status: VALIDATED

Source sequence(s)

AC121908

UniProtKB/Swiss-Prot

P48168
NM_001345958.2 → NP_001332887.1 glycine receptor subunit beta isoform 6

Status: VALIDATED

Source sequence(s)

AC121908

UniProtKB/Swiss-Prot

P48168

Conserved Domains (1) summary

cl27321
Location:1 → 413

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
NM_001345959.2 → NP_001332888.1 glycine receptor subunit beta isoform 7

Status: VALIDATED

Source sequence(s)

AC121908

UniProtKB/Swiss-Prot

P48168

Conserved Domains (2) summary

TIGR00860
Location:1 → 397

LIC; Cation transporter family protein

cl28912
Location:1 → 167

LGIC_ECD; extracellular domain (ECD) of Cys-loop neurotransmitter-gated ion channels (also known as ligand-gated ion channel (LGIC))
NM_001345996.2 → NP_001332925.1 glycine receptor subunit beta isoform 5 precursor

Status: VALIDATED

Source sequence(s)

AC121908

Consensus CDS

CCDS89640.1

UniProtKB/TrEMBL

A1KR23

Related

ENSMUSP00000142306.2, ENSMUST00000194085.6
NM_001410144.1 → NP_001397073.1 glycine receptor subunit beta isoform 8

Status: VALIDATED

Source sequence(s)

AC121908
NM_001410145.1 → NP_001397074.1 glycine receptor subunit beta isoform 6

Status: VALIDATED

Source sequence(s)

AC121908
NM_001410146.1 → NP_001397075.1 glycine receptor subunit beta isoform 7

Status: VALIDATED

Source sequence(s)

AC121908
NM_001410147.1 → NP_001397076.1 glycine receptor subunit beta isoform 7

Status: VALIDATED

Source sequence(s)

AC121908
NM_001410148.1 → NP_001397077.1 glycine receptor subunit beta isoform 9

Status: VALIDATED

Source sequence(s)

AC121908
NM_001410149.1 → NP_001397078.1 glycine receptor subunit beta isoform 9

Status: VALIDATED

Source sequence(s)

AC121908
NM_001410150.1 → NP_001397079.1 glycine receptor subunit beta isoform 9

Status: VALIDATED

Source sequence(s)

AC121908
NM_001410151.1 → NP_001397080.1 glycine receptor subunit beta isoform 10 precursor

Status: VALIDATED

Source sequence(s)

AC121908

UniProtKB/TrEMBL

E9Q3E3

Related

ENSMUSP00000103372.2, ENSMUST00000107743.8
NM_001410152.1 → NP_001397081.1 glycine receptor subunit beta isoform 11 precursor

Status: VALIDATED

Source sequence(s)

AC121908
NM_010298.7 → NP_034428.2 glycine receptor subunit beta isoform 4 precursor

See identical proteins and their annotated locations for NP_034428.2

Status: VALIDATED

Source sequence(s)

AC121908

Consensus CDS

CCDS17424.1

UniProtKB/Swiss-Prot

P48168, Q5U5X3

Related

ENSMUSP00000029654.9, ENSMUST00000029654.15

Conserved Domains (3) summary

TIGR00860
Location:54 → 495

LIC; Cation transporter family protein

pfam02931
Location:59 → 266

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:273 → 492

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_000069.7 Reference GRCm39 C57BL/6J

Range

80750905..80820994 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030252428.2 → XP_030108288.1 glycine receptor subunit beta isoform X5

Conserved Domains (3) summary

TIGR00860
Location:1 → 421

LIC; Cation transporter family protein

cd03558
Location:85 → 99

LGIC_ECD; Cys-loop [structural motif]

cl28912
Location:1 → 167

LGIC_ECD; extracellular domain (ECD) of Cys-loop neurotransmitter-gated ion channels (also known as ligand-gated ion channel (LGIC))
XM_036162900.1 → XP_036018793.1 glycine receptor subunit beta isoform X3

Conserved Domains (2) summary

TIGR00860
Location:64 → 521

LIC; Cation transporter family protein

cd19010
Location:89 → 275

LGIC_ECD_GlyR_beta; extracellular domain of glycine receptor beta subunit
XM_036162898.1 → XP_036018791.1 glycine receptor subunit beta isoform X1

Conserved Domains (2) summary

TIGR00860
Location:64 → 529

LIC; Cation transporter family protein

cd19010
Location:89 → 275

LGIC_ECD_GlyR_beta; extracellular domain of glycine receptor beta subunit
XM_036162899.1 → XP_036018792.1 glycine receptor subunit beta isoform X2

Conserved Domains (2) summary

TIGR00860
Location:64 → 522

LIC; Cation transporter family protein

cd19010
Location:89 → 275

LGIC_ECD_GlyR_beta; extracellular domain of glycine receptor beta subunit