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Gene : GLRB Homo sapiens

Name  ? glycine receptor beta Cytological Location  4q32.1
Brief Description  glycine receptor beta
Description  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]
  • synonyms:
  • GLRB,
  • HGNC:4329,
  • OTTHUMG00000161954,
  • U33267,
  • HKPX2,
  • uc003ipj.3,
  • NM_000824
  • identifiers:
  • 2743,
  • ENSG00000109738,
  • GLRB

Genome feature

Region: gene ? Length: 95966  
Location: 4:157076125-157172090 Cyto location: 4q32.1


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

392 SN Ps

5 Cross References

19 Data Sets

44 Homologues

0 Located Features

97 Rna Seq Results