GLRB
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GLRB (HGNC:4329) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
glycine receptor beta
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
35.64(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.46(Read more about gnomAD pLI score)
LOEUF
0.75(Read more about gnomAD LOEUF score)
Cytoband
4q32.1
Genomic Coordinates
GRCh37/hg19: chr4:157997302-158093242 NCBI Ensembl UCSC
GRCh38/hg38: chr4:157076150-157172090 NCBI Ensembl UCSC
MANE Select Transcript
NM_000824.5 ENST00000264428.9 (Read more about MANE Select)
Function
Glycine receptors are ligand-gated chloride channels. GLRB does not form ligand-gated ion channels by itself, but is part of heteromeric ligand-gated chloride channels. Channel opening is triggered by extracellular glycine (PubMed:8717357, PubMed:15302677, PubMed:16144831, PubMed:22715885, PubMed:25445488, PubMed:11929858, PubMed:23238346, PubMed:34473954). Heteropentameric channels composed of GLRB and GLRA1 are activated by lower glycine levels than homopentameric GLRA1 (PubMed:8717357). Plays... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-6839
ClinGen Curation ID:
CCID:007221
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000004.11) (NC_000004.12)