1. Gene
  2. GLRA2 - glycine receptor alpha 2 Gene

GLRA2 - glycine receptor alpha 2 Gene

Homo sapiens

Also known as GLR; MRXSP

Gene ID: 2742 | Gene type: protein coding

About GLRA2

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:14,448,779-14,731,812 (from NCBI)

This gene has 4 transcripts (splice variants), 202 orthologues, 45 paralogues and is associated with 1 phenotype. Biased expression in brain (RPKM 1.9) and colon (RPKM 0.8).

Summary

The glycine receptor consists of two subunits, alpha and beta, and acts as a pentamer. The protein encoded by this gene is an alpha subunit and can bind strychnine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]

GLRA2 Products(4)

mRNA Protein Name
NM_001118885.2 NP_001112357.1 glycine receptor subunit alpha-2 isoform A precursor
NM_001118886.2 NP_001112358.1 glycine receptor subunit alpha-2 isoform B precursor
NM_001171942.2 NP_001165413.1 glycine receptor subunit alpha-2 isoform C
NM_002063.4 NP_002054.1 glycine receptor subunit alpha-2 isoform A precursor

GLRA2 Protein Structure

Neur_chan_LBD

Neur_chan_LBD: Neurotransmitter-gated ion-channel ligand binding domain (47 - 254)

Neur_chan_memb

Neur_chan_memb: Neurotransmitter-gated ion-channel transmembrane region (261 - 347)

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  • 400
  • 452 a.a.
Protein Preferred Names Protein Names

glycine receptor subunit alpha-2

glycine receptor alpha 2 subunit

Related Diseases

Diseases Alias
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type

MRXSP

Intellectual Developmental Disorder, X-Linked Syndromic, Pilorge Type

Alternating Exotropia

Exotropia

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

Expressive Language Disorder

Developmental Expressive Language Disorder

Rett Syndrome

Atypical Rett Syndrome

RTT

Rett Disorder

Rts

Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

Rett Syndrome, Preserved Speech Variant

Rett Syndrome, Atypical

Rett'S Disorder

Rett Syndrome Variant

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

Cerebroatrophic Hyperammonemia

Rett Like Syndrome

Rett'S Syndrome

Atypical Rtt

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

Rett Syndrome Preserved Speech Variant

Rett Syndrome Zappella Variant

Rett Syndrome, Zappella Variant

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

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

Orthologs Information

Species Symbol Source ID
Mus musculus GLRA2 MGD MGI:95748
Bos taurus GLRA2 VGNC VGNC:29413
Felis catus GLRA2 VGNC VGNC:62589
Canis familiaris GLRA2 VGNC VGNC:41269
Macaca mulatta GLRA2 VGNC VGNC:73075
Rattus norvegicus GLRA2 RGD RGD:2705