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GLRB glycine receptor beta [ Homo sapiens (human) ]

Gene ID: 2743, updated on 5-Aug-2022

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
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Genomic context

See GLRB in Genome Data Viewer
Location:
4q32.1
Exon count:
13
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (157076150..157172090)
110 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_000004.12Genomic Context describing neighboring genes Neighboring gene ribonuclease P RNA component H1, 3 pseudogene Neighboring gene Sharpr-MPRA regulatory region 1911 Neighboring gene RNA, U6 small nuclear 582, pseudogene Neighboring gene chromatin accessibility complex subunit 1 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in 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 response to amino acid IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in righting reflex IEA
Inferred from Electronic Annotation
more info
 
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 anchoring junction 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 integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
glycine receptor subunit beta
Names
glycine receptor 58 kDa subunit
glycine receptor, beta subunit

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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

  1. NG_015823.1 RefSeqGene

    Range
    5001..100966
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000824.5NP_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
    F5GWE1, P48167
    Related
    ENSP00000264428.4, ENST00000264428.9
    Conserved Domains (2) summary
    TIGR00860
    Location:43496
    LIC; Cation transporter family protein
    cd19010
    Location:79265
    LGIC_ECD_GlyR_beta; extracellular domain of glycine receptor beta subunit
  2. NM_001166060.2NP_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
    F5GWE1, P48167
    Related
    ENSP00000427186.1, ENST00000509282.1
    Conserved Domains (2) summary
    TIGR00860
    Location:43496
    LIC; Cation transporter family protein
    cd19010
    Location:79265
    LGIC_ECD_GlyR_beta; extracellular domain of glycine receptor beta subunit
  3. NM_001166061.2NP_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:183197
    LGIC_ECD; Cys-loop [structural motif]
    cd03559
    Location:268291
    LGIC_TM; TM1 helix [structural motif]
    cl28912
    Location:79265
    LGIC_ECD; extracellular domain (ECD) of Cys-loop neurotransmitter-gated ion channels (also known as ligand-gated ion channel (LGIC))
    cl38911
    Location:268302
    LGIC_TM; transmembrane domain of Cys-loop neurotransmitter-gated ion channels

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    157076150..157172090
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047450075.1XP_047306031.1  glycine receptor subunit beta isoform X2

  2. XM_017008035.3XP_016863524.1  glycine receptor subunit beta isoform X3

    UniProtKB/Swiss-Prot
    P48167
    Conserved Domains (4) summary
    cd03558
    Location:183197
    LGIC_ECD; Cys-loop [structural motif]
    cd03559
    Location:268291
    LGIC_TM; TM1 helix [structural motif]
    cl28912
    Location:79265
    LGIC_ECD; extracellular domain (ECD) of Cys-loop neurotransmitter-gated ion channels (also known as ligand-gated ion channel (LGIC))
    cl38911
    Location:268302
    LGIC_TM; transmembrane domain of Cys-loop neurotransmitter-gated ion channels
  3. XM_017008034.2XP_016863523.1  glycine receptor subunit beta isoform X1

    Conserved Domains (1) summary
    cl27321
    Location:1398
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    160421647..160517588
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)