GLRB - glycine receptor beta Gene

Also Known as HKPX2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2743

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	References	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	References	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	References	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

GLRB Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P84347	GLRB Antibody (YA4044)	ICC/IF, FC, ELISA	Human
HY-P84347A	GLRB Antibody (YA4044)(PBS only)	ICC/IF, FC, ELISA	Human

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05495	GLRB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22187	Glrb Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28709	Glrb Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	GLRB	NCBI