GLRB glycine receptor beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: GLRBprovided by HGNC
Official Full Name: glycine receptor betaprovided by HGNC
Primary source: HGNC:HGNC:4329
See related: Ensembl:ENSG00000109738 MIM:138492; AllianceGenome:HGNC:4329
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: HKPX2
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. 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, Oct 2009]
Expression: Biased expression in brain (RPKM 13.2), salivary gland (RPKM 2.5) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q32.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (157076150..157172090)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (160421647..160517588)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (157997302..158093242)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Clinical, genetic, and functional characterization of the glycine receptor beta-subunit A455P variant in a family affected by hyperekplexia syndrome.
Title: Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome.
single nucleotide polymorphism of glrb interacts in a complex manner with Panic Disorder /AgoraphobiaG on a functional systems level and might be involved in the development of PD/AG but not in their treatment.
Title: Association of rs7688285 allelic variation coding for GLRB with fear reactivity and exposure-based therapy in patients with panic disorder and agoraphobia.
The association between the missense SNP rs2235371 in gene IRF6 and NSCL/P suggests that this SNP may play an important role as a risk factor for NSCL/P in the Han Chinese populations.
Title: Interaction between interferon regulatory factor 6 and glycine receptor beta shows a protective effect on developing nonsyndromic cleft lip with or without cleft palate in the Han Chinese population.
Using quantitative photoactivated localisation microscopy the authors found that alpha-1 and alpha-3 containing glycine receptors display the same alpha3:beta2 stoichiometry and gephyrin binding.
Title: Alpha subunit-dependent glycine receptor clustering and regulation of synaptic receptor numbers.
GLRB variants are associated with etiopathogenesis of fear and anxiety disorders.
Title: Modulation of defensive reactivity by GLRB allelic variation: converging evidence from an intermediate phenotype approach.
A genome-wide significant association was found between ACQ and single non-coding nucleotide variants of the GLRB gene (rs78726293, P = 3.3 x 10 - 8; rs191260602, P = 3.9 x 10- 8).GLRB gene expression was found to be modulated by rs7688285 in brain tissue, as well as cell culture.
Title: GLRB allelic variation associated with agoraphobic cognitions, increased startle response and fear network activation: a potential neurogenetic pathway to panic disorder.
Whole-exome sequencing in ASD patients from each family identified a second rare inherited genetic variant, affecting GLRB expressed in inhibitory or in excitatory synapses.
Title: GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability.
GLRA1 and GLRB mutations are responsible for abnormal startled reactions in humans. (Review)
Title: [GLYCINE RECEPTOR: MOLECULAR ORGANIZATION AND PATHOLOGY].
The N-terminal region of GABRA3 and the GlyR beta subunit occupies the same binding site of gephyrin.
Title: Molecular basis of the alternative recruitment of GABA(A) versus glycine receptors through gephyrin.
We report novel GLRB mutations in hyperekplexia
Title: A 14-year-old girl with hyperekplexia having GLRB mutations.

Submit: New GeneRIF Correction See all GeneRIFs (23)

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
Hyperekplexia 2 MedGen: C3553291 OMIM: 614619 GeneReviews: Hereditary Hyperekplexia Overview	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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	HIV-1 Vif downregulates the expression of glycine receptor, beta subunit (GLRB) in Vif-expression T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-31659 (e-PCR)
- UniSTS:66319

SHGC-50349 (e-PCR)
- UniSTS:70214

SHGC-59742 (e-PCR)
- UniSTS:29036

SHGC-146895 (e-PCR)
- UniSTS:175497

GLRB_977 (e-PCR)
- UniSTS:471447

GLRB_V243 (e-PCR)
- UniSTS:471447

SHGC-67413 (e-PCR)
- UniSTS:6059

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables excitatory extracellular ligand-gated monoatomic ion channel activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
contributes_to extracellularly glycine-gated chloride channel activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
contributes_to extracellularly glycine-gated chloride channel activity	IDA Inferred from Direct Assay more info	PubMed
enables extracellularly glycine-gated ion channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
contributes_to glycine binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
contributes_to glycine binding	IMP Inferred from Mutant Phenotype 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 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	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Process	Evidence Code	Pubs
involved_in acrosome reaction	IEA Inferred from Electronic Annotation more info
involved_in adult walking behavior	IEA Inferred from Electronic Annotation more info
involved_in chemical synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in chloride transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in excitatory postsynaptic potential	IEA Inferred from Electronic Annotation more info
involved_in gamma-aminobutyric acid receptor clustering	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nervous system process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in neuropeptide signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in neuropeptide signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of membrane potential	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in righting reflex	IEA Inferred from Electronic Annotation more info
involved_in startle response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptic transmission, glycinergic	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
part_of glycine-gated chloride channel complex	IDA Inferred from Direct Assay more info	PubMed
located_in glycinergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement 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 synapse	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: glycine receptor subunit beta

Names: glycine receptor 58 kDa subunit; glycine receptor, beta 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_015823.2 RefSeqGene

Range

5002..100942

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000824.5 → NP_000815.1 glycine receptor subunit beta isoform A precursor

See identical proteins and their annotated locations for NP_000815.1

Status: REVIEWED

Description

Transcript Variant: This variant (1, also known as variant A) represents the longest transcript and encodes the longer isoform (A). Both variants 1 and 2 encode the same isoform.

Source sequence(s)

AC079403

Consensus CDS

CCDS3796.1

UniProtKB/Swiss-Prot

A8K3K2, D3DP23, F5GWE1, P48167

Related

ENSP00000264428.4, ENST00000264428.9

Conserved Domains (2) summary

TIGR00860
Location:43 → 496

LIC; Cation transporter family protein

cd19010
Location:79 → 265

LGIC_ECD_GlyR_beta; extracellular domain of glycine receptor beta subunit
NM_001166060.2 → NP_001159532.1 glycine receptor subunit beta isoform A precursor

See identical proteins and their annotated locations for NP_001159532.1

Status: REVIEWED

Description

Transcript Variant: This variant (2, also known as variant B) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (A).

Source sequence(s)

AC079403

Consensus CDS

CCDS3796.1

UniProtKB/Swiss-Prot

A8K3K2, D3DP23, F5GWE1, P48167

Related

ENSP00000427186.1, ENST00000509282.1

Conserved Domains (2) summary

TIGR00860
Location:43 → 496

LIC; Cation transporter family protein

cd19010
Location:79 → 265

LGIC_ECD_GlyR_beta; extracellular domain of glycine receptor beta subunit
NM_001166061.2 → NP_001159533.1 glycine receptor subunit beta isoform B precursor

See identical proteins and their annotated locations for NP_001159533.1

Status: REVIEWED

Description

Transcript Variant: This variant (3, also known as GlyR beta delta8) lacks an alternate internal exon that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (B) has a distinct C-terminus and is shorter than isoform A.

Source sequence(s)

AC079403

Consensus CDS

CCDS54813.1

UniProtKB/Swiss-Prot

P48167

Related

ENSP00000441873.1, ENST00000541722.5

Conserved Domains (4) summary

cd03558
Location:183 → 197

LGIC_ECD; Cys-loop [structural motif]

cd03559
Location:268 → 291

LGIC_TM; TM1 helix [structural motif]

cl28912
Location:79 → 265

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

cl38911
Location:268 → 302

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

157076150..157172090

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047450075.1 → XP_047306031.1 glycine receptor subunit beta isoform X2
XM_017008035.3 → XP_016863524.1 glycine receptor subunit beta isoform X3

UniProtKB/Swiss-Prot

P48167

Conserved Domains (4) summary

cd03558
Location:183 → 197

LGIC_ECD; Cys-loop [structural motif]

cd03559
Location:268 → 291

LGIC_TM; TM1 helix [structural motif]

cl28912
Location:79 → 265

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

cl38911
Location:268 → 302

LGIC_TM; transmembrane domain of Cys-loop neurotransmitter-gated ion channels
XM_017008034.2 → XP_016863523.1 glycine receptor subunit beta isoform X1

Conserved Domains (1) summary

cl27321
Location:1 → 398

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain