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

    Gene ID: 14658, updated on 27-Nov-2024

    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
    NEW
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    Genomic context

    See Glrb in Genome Data Viewer
    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_000069.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 57716 Neighboring gene glutamate receptor, ionotropic, AMPA2 (alpha 2) Neighboring gene polymerase (DNA directed), iota pseudogene Neighboring gene predicted gene, 54207 Neighboring gene STARR-seq mESC enhancer starr_08019 Neighboring gene STARR-seq mESC enhancer starr_08022 Neighboring gene predicted gene, 29808 Neighboring gene STARR-seq mESC enhancer starr_08023 Neighboring gene STARR-seq mESC enhancer starr_08024 Neighboring gene platelet-derived growth factor, C polypeptide Neighboring gene STARR-seq mESC enhancer starr_08025

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Spontaneous (2) 
    • Targeted (1) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    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.

    mRNA and Protein(s)

    1. NM_001281969.3NP_001268898.1  glycine receptor subunit beta isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC121908
      UniProtKB/Swiss-Prot
      P48168
      Conserved Domains (2) summary
      TIGR00860
      Location:1397
      LIC; Cation transporter family protein
      cl28912
      Location:1167
      LGIC_ECD; extracellular domain (ECD) of Cys-loop neurotransmitter-gated ion channels (also known as ligand-gated ion channel (LGIC))
    2. NM_001345955.2NP_001332884.1  glycine receptor subunit beta isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AC121908
      UniProtKB/Swiss-Prot
      P48168
    3. NM_001345956.2NP_001332885.1  glycine receptor subunit beta isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC121908
      UniProtKB/Swiss-Prot
      P48168
    4. NM_001345957.2NP_001332886.1  glycine receptor subunit beta isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AC121908
      UniProtKB/Swiss-Prot
      P48168
    5. NM_001345958.2NP_001332887.1  glycine receptor subunit beta isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC121908
      UniProtKB/Swiss-Prot
      P48168
      Conserved Domains (1) summary
      cl27321
      Location:1413
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    6. NM_001345959.2NP_001332888.1  glycine receptor subunit beta isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC121908
      UniProtKB/Swiss-Prot
      P48168
      Conserved Domains (2) summary
      TIGR00860
      Location:1397
      LIC; Cation transporter family protein
      cl28912
      Location:1167
      LGIC_ECD; extracellular domain (ECD) of Cys-loop neurotransmitter-gated ion channels (also known as ligand-gated ion channel (LGIC))
    7. NM_001345996.2NP_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
    8. NM_001410144.1NP_001397073.1  glycine receptor subunit beta isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC121908
    9. NM_001410145.1NP_001397074.1  glycine receptor subunit beta isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC121908
    10. NM_001410146.1NP_001397075.1  glycine receptor subunit beta isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC121908
    11. NM_001410147.1NP_001397076.1  glycine receptor subunit beta isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC121908
    12. NM_001410148.1NP_001397077.1  glycine receptor subunit beta isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC121908
    13. NM_001410149.1NP_001397078.1  glycine receptor subunit beta isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC121908
    14. NM_001410150.1NP_001397079.1  glycine receptor subunit beta isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC121908
    15. NM_001410151.1NP_001397080.1  glycine receptor subunit beta isoform 10 precursor

      Status: VALIDATED

      Source sequence(s)
      AC121908
      UniProtKB/TrEMBL
      E9Q3E3
      Related
      ENSMUSP00000103372.2, ENSMUST00000107743.8
    16. NM_001410152.1NP_001397081.1  glycine receptor subunit beta isoform 11 precursor

      Status: VALIDATED

      Source sequence(s)
      AC121908
    17. NM_010298.7NP_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:54495
      LIC; Cation transporter family protein
      pfam02931
      Location:59266
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:273492
      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

    1. NC_000069.7 Reference GRCm39 C57BL/6J

      Range
      80750905..80820994 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (3) summary
      TIGR00860
      Location:1421
      LIC; Cation transporter family protein
      cd03558
      Location:8599
      LGIC_ECD; Cys-loop [structural motif]
      cl28912
      Location:1167
      LGIC_ECD; extracellular domain (ECD) of Cys-loop neurotransmitter-gated ion channels (also known as ligand-gated ion channel (LGIC))
    2. XM_036162900.1XP_036018793.1  glycine receptor subunit beta isoform X3

      Conserved Domains (2) summary
      TIGR00860
      Location:64521
      LIC; Cation transporter family protein
      cd19010
      Location:89275
      LGIC_ECD_GlyR_beta; extracellular domain of glycine receptor beta subunit
    3. XM_036162898.1XP_036018791.1  glycine receptor subunit beta isoform X1

      Conserved Domains (2) summary
      TIGR00860
      Location:64529
      LIC; Cation transporter family protein
      cd19010
      Location:89275
      LGIC_ECD_GlyR_beta; extracellular domain of glycine receptor beta subunit
    4. XM_036162899.1XP_036018792.1  glycine receptor subunit beta isoform X2

      Conserved Domains (2) summary
      TIGR00860
      Location:64522
      LIC; Cation transporter family protein
      cd19010
      Location:89275
      LGIC_ECD_GlyR_beta; extracellular domain of glycine receptor beta subunit