Format

Send to:

Choose Destination

GLRB glycine receptor beta [ Homo sapiens (human) ]

Gene ID: 2743, updated on 12-Oct-2019

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
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

Genomic context

See GLRB in Genome Data Viewer
Location:
4q32.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (157076125..157172090)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (157997277..158093251)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 10686 Neighboring gene platelet derived growth factor C Neighboring gene ribonuclease P RNA component H1, 3 pseudogene 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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
acrosome reaction IEA
Inferred from Electronic Annotation
more info
 
adult walking behavior IEA
Inferred from Electronic Annotation
more info
 
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chemical synaptic transmission IMP
Inferred from Mutant Phenotype
more info
PubMed 
chemical synaptic transmission TAS
Traceable Author Statement
more info
 
chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
gamma-aminobutyric acid receptor clustering IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ion transport IDA
Inferred from Direct Assay
more info
PubMed 
nervous system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
nervous system process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuropeptide signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuropeptide signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
protein heterooligomerization IEA
Inferred from Electronic Annotation
more info
 
regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to amino acid IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
righting reflex IEA
Inferred from Electronic Annotation
more info
 
signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
startle response IMP
Inferred from Mutant Phenotype
more info
PubMed 
synaptic transmission, glycinergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
glycine-gated chloride channel complex IDA
Inferred from Direct Assay
more info
PubMed 
glycinergic synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
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)

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
    P48167
    Related
    ENSP00000264428.4, ENST00000264428.9
    Conserved Domains (3) summary
    TIGR00860
    Location:43496
    LIC; Cation transporter family protein
    pfam02931
    Location:59266
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:273493
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  2. NM_001166060.1NP_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)
    AF094755, BC022502, BC032635, CA437106, DB479295
    Consensus CDS
    CCDS3796.1
    UniProtKB/Swiss-Prot
    P48167
    Related
    ENSP00000427186.1, ENST00000509282.1
    Conserved Domains (3) summary
    TIGR00860
    Location:43496
    LIC; Cation transporter family protein
    pfam02931
    Location:59266
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:273493
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  3. NM_001166061.1NP_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)
    BC022502, BC032635, CA437106, CD013911, DA168145
    Consensus CDS
    CCDS54813.1
    UniProtKB/Swiss-Prot
    P48167
    Related
    ENSP00000441873.1, ENST00000541722.5
    Conserved Domains (1) summary
    cl27321
    Location:43302
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    157076125..157172090
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008035.2XP_016863524.1  glycine receptor subunit beta isoform X2

    UniProtKB/Swiss-Prot
    P48167
    Conserved Domains (1) summary
    cl27321
    Location:43302
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
  2. XM_017008034.1XP_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

RNA

  1. XR_002959723.1 RNA Sequence

  2. XR_001741207.2 RNA Sequence

Support Center