GLRA2 - glycine receptor alpha 2 Gene

Also Known as GLR; MRXSP

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 2742

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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence 参考文献 由来
enables extracellularly glycine-gated chloride channel activity IDA
IDA: Inferred from direct assay
2155780 GOA
enables glycine binding IDA
IDA: Inferred from direct assay
2155780 GOA
enables glycine-gated chloride ion channel activity IDA
IDA: Inferred from direct assay
23895467 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in cellular response to amino acid stimulus IDA
IDA: Inferred from direct assay
2155780 GOA
involved in cellular response to ethanol IDA
IDA: Inferred from direct assay
23895467 GOA
involved in cellular response to zinc ion IDA
IDA: Inferred from direct assay
23895467 GOA
involved in chloride transmembrane transport IDA
IDA: Inferred from direct assay
23895467 GOA
involved in monoatomic ion transmembrane transport IDA
IDA: Inferred from direct assay
2155780 GOA
involved in neuropeptide signaling pathway IDA
IDA: Inferred from direct assay
2155780 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in plasma membrane IDA
IDA: Inferred from direct assay
2155780 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

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)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 452 a.a.
Protein Preferred Names Protein Names

glycine receptor subunit alpha-2

  • glycine receptor alpha 2 subunit

関連疾患

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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS05493 GLRA2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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
Others GLRA2 NCBI