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Glrb Gene Detail
Summary
  • Symbol
    Glrb
  • Name
    glycine receptor, beta subunit
  • Feature Type
    protein coding gene
  • IDs
    MGI:95751
    NCBI Gene: 14658
  • Gene Overview
    MyGene.info: GLRB
Location & Maps
more
  • Sequence Map
    Chr3:80843599-80913660 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      70062 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 35.71 cM, cytoband E3-F1
  • Mapping Data
    18 experiments
Homology
more
  • Human Ortholog
    GLRB, glycine receptor beta
  • Vertebrate Orthologs
    11
  • Human Ortholog
    GLRB, glycine receptor beta
    Orthology source: HomoloGene
  • Synonyms
    HKPX2
  • Links
    NCBI Gene ID: 2743
    neXtProt AC: NX_P48167

  • Chr Location
    4q31.3; chr4:157076125-157172099 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 20224
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;2 zebrafish
  • HCOP
    human homology predictions: GLRB
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Glrb mouse models; 1 with human GLRB associations

Human Disease Mouse Models
       Hyperekplexia 2; HKPX2   OMIM: 614619 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    32 phenotypes from 2 alleles in 4 genetic backgrounds
    7 phenotypes from multigenic genotypes
    31 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    6
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Spontaneous
    2
  • Transgenic
    2
  • Genomic Mutations
    2 involving Glrb
  • Incidental Mutations
Mutations in this gene result in a neurological disorder and premature death.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024419 VEGA Gene Model | MGI Sequence Detail 70062 C57BL/6J ±  kb
transcript OTTMUST00000059853 VEGA | MGI Sequence Detail 3029 Not Applicable  
polypeptide OTTMUSP00000029152 VEGA | MGI Sequence Detail 496 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    732 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
less
  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000008046 glycine receptor subunit beta
  • InterPro Domains
    IPR008060 Glycine receptor beta
    IPR006201 Neurotransmitter-gated ion-channel
    IPR018000 Neurotransmitter-gated ion-channel, conserved site
    IPR006202 Neurotransmitter-gated ion-channel ligand-binding domain
    IPR006029 Neurotransmitter-gated ion-channel transmembrane domain
Molecular
Reagents
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  • All nucleic 27
    Genomic 7
    cDNA 16
    Primer pair 3
    Other 1

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-10134, MGD-MRK-14513, MGI:2139832
References
more
  • Summaries
    All 71
    Developmental Gene Expression 8
    Diseases 1
    Gene Ontology 20
    Phenotypes 31
  • Earliest
    J:13079 Chai CK, Hereditary spasticity in mice. J Hered. 1961;52:241-243
  • Latest
    J:205051 Miller JA, et al., Conserved molecular signatures of neurogenesis in the hippocampal subgranular zone of rodents and primates. Development. 2013 Nov;140(22):4633-44

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory