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    GLRB glycine receptor beta [ Homo sapiens (human) ]

    Gene ID: 2743, updated on 11-Apr-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GLRB in Genome Data Viewer
    Location:
    4q32.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (157076150..157172090)
    RS_2023_10 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 NANOG hESC enhancer GRCh37_chr4:157692390-157692891 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75074 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:157718592-157719092 Neighboring gene platelet derived growth factor C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:157892738-157893238 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:157919659-157920439 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:157920440-157921219 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

    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chloride transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 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
     
    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
     
    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
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    part_of transmembrane transporter complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    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_015823.2 RefSeqGene

      Range
      5002..100942
      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
      A8K3K2, D3DP23, 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
      A8K3K2, D3DP23, 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: GCF_000001405.40-RS_2023_10

    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)

    mRNA and Protein(s)

    1. XM_054349701.1XP_054205676.1  glycine receptor subunit beta isoform X2

    2. XM_054349702.1XP_054205677.1  glycine receptor subunit beta isoform X3

    3. XM_054349700.1XP_054205675.1  glycine receptor subunit beta isoform X1