GLRB - glycine receptor beta Gene

Homo sapiens

Also known as HKPX2

Gene ID: 2743 | Gene type: protein coding

About GLRB

Cytogenetic location: 4q32.1 Genomic coordinates (GRCh38): 4:157,076,150-157,172,090 (from NCBI)

This gene has 7 transcripts (splice variants), 272 orthologues, 45 paralogues and is associated with 4 phenotypes. Biased expression in brain (RPKM 13.2), salivary gland (RPKM 2.5) and 10 other tissues.

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]

GLRB Products(3)

mRNA	Protein	Name
NM_000824.5	NP_000815.1	glycine receptor subunit beta isoform A precursor
NM_001166060.2	NP_001159532.1	glycine receptor subunit beta isoform A precursor
NM_001166061.2	NP_001159533.1	glycine receptor subunit beta isoform B precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
contributes to extracellularly glycine-gated chloride channel activity	IDA IDA: Inferred from direct assay	8717357	GOA
enables extracellularly glycine-gated ion channel activity	IMP IMP: Inferred from mutant phenotype	11929858	GOA
contributes to glycine binding	IMP IMP: Inferred from mutant phenotype	15748848	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11929858	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in chemical synaptic transmission	IMP IMP: Inferred from mutant phenotype	11929858	GOA
involved in chloride transmembrane transport	IMP IMP: Inferred from mutant phenotype	11929858	GOA
involved in monoatomic ion transport	IDA IDA: Inferred from direct assay	8717357	GOA
involved in nervous system development	IMP IMP: Inferred from mutant phenotype	11929858	GOA
involved in neuropeptide signaling pathway	IDA IDA: Inferred from direct assay	8717357	GOA
involved in startle response	IMP IMP: Inferred from mutant phenotype	11929858	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of glycine-gated chloride channel complex	IDA IDA: Inferred from direct assay	11929858	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	8717357	GOA
located in plasma membrane	IMP IMP: Inferred from mutant phenotype	11929858	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GLRB Protein Structure

Neur_chan_LBD

Neur_chan_memb

0
100
200
300
400
497 a.a.

Protein Preferred Names

Protein Names

glycine receptor subunit beta

glycine receptor 58 kDa subunit

Related Diseases

Diseases

Alias

Hyperekplexia 2

HKPX2	Autosomal Recessive Hyperekplexia 2
Hyperekplexia, Type 2

Hyperekplexia

Hereditary Hyperekplexia	Kok Disease
Congenital Stiff Man Syndrome	Familial Startle Disease
Sthe	Stiff-Baby Syndrome
Hereditary Hyperexplexia	Startle Disease
Exaggerated Startle Reaction	Hyperexplexia Hereditary
Startle Disease, Familial	Startle Reaction, Exaggerated
Stiff-Man Syndrome, Congenital	Stiff-Person Syndrome, Congenital
Congenital Stiff-Man Syndrome	Congenital Stiff-Person Syndrome
Familial Hyperekplexia	Startle Syndrome
Stiff Baby Syndrome	Hyperekplexia, Hereditary
Stiff-Person Syndrome

Agoraphobia

Fear Of Open Spaces

Phobia Of Going Out

Stiff-Person Syndrome

SPS	Stiff-Man Syndrome
Stiff Man Syndrome	Stiff Person Syndrome
Moersch-Woltman Syndrome	Sms
Stiff-Trunk Syndrome	Morsch Woltman Syndrome
Stiff Person Syndrome And Related Disorders	Stiff Person Spectrum Disorder
Classic Stiff Person Syndrome	Classic Sps
Focal Stiff Limb Syndrome	Focal Stiff-Person Syndrome
Stiff Leg Syndrome	Progressive Encephalomyelitis With Rigidity

Hyperekplexia 1

HKPX1	Exaggerated Startle Reaction
Sthe	Stiff-Baby Syndrome
Kok Disease	Startle Disease, Familial
Startle Reaction, Exaggerated	Stiff-Man Syndrome, Congenital
Stiff-Person Syndrome, Congenital	Congenital Stiff-Man Syndrome
Congenital Stiff-Person Syndrome	Familial Startle Disease
Hereditary Hyperexplexia 1	Hyperekplexia Hereditary 1 Autosomal Dominant Or Recessive
Hyperekplexia	Hereditary Hyperexplexia
Stiff-Person Syndrome

Hyperekplexia 3

HKPX3

Hyperekplexia, Type 3

Microcephaly And Chorioretinopathy 2

Panic Disorder

Panic Anxiety Syndrome	Panic
Panic Disorder 1	Episodic Paroxysmal Anxiety Disorder

Periodic Limb Movement Disorder

Nocturnal Myoclonus Syndrome

Nocturnal Myoclonus

Phobic Disorder

Phobic Disorders

Phobic Anxiety Disorder

Glycine Encephalopathy

Non-Ketotic Hyperglycinemia	Nonketotic Hyperglycinemia
NKH	GCE
Hyperglycinemia, Nonketotic	Hyperglycinemia Nonketotic
Infantile Glycine Encephalopathy	Encephalopathy, Glycine
Glycine Synthase Deficiency	Nka
Neonatal Glycine Encephalopathy	Classic Glycine Encephalopathy
Neonatal Nkh	Neonatal Non-Ketotic Hyperglycinemia
Infantile Nkh	Infantile Non-Ketotic Hyperglycinemia
Non-Ketotic Hyperglycinaemia	Glycine Cleavage Deficiency
Nonketotic Hyperglycinaemia

Myotonia Congenita

Congenital Myotonia, Autosomal Dominant Form	Congenital Myotonia
Thomsen And Becker Disease	Thomsen Disease
Thomsen'S Disease	Generalized Myotonia Of Thomsen
Congenital Myotonic Muscular Dystrophy	Myotonia Congenita Nos

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive	Autosomal Recessive Mental Retardation
Autosomal Recessive Non-Syndromic Mental Retardation	Autosomal Recessive Non-Syndromic Intellectual Disability

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05495	GLRB Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GLRB	RGD	RGD:2706
Mus musculus	GLRB	MGD	MGI:95751
Bos taurus	GLRB	VGNC	VGNC:29415
Macaca mulatta	GLRB	VGNC	VGNC:73077
Felis catus	GLRB	VGNC	VGNC:62592
Canis familiaris	GLRB	VGNC	VGNC:41272

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