U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

GLRA2 glycine receptor alpha 2 [ Homo sapiens (human) ]

Gene ID: 2742, updated on 11-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
GLRA2provided by HGNC
Official Full Name
glycine receptor alpha 2provided by HGNC
Primary source
HGNC:HGNC:4327
See related
Ensembl:ENSG00000101958 MIM:305990; AllianceGenome:HGNC:4327
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GLR; MRXSP
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]
Expression
Biased expression in brain (RPKM 1.9) and colon (RPKM 0.8) See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See GLRA2 in Genome Data Viewer
Location:
Xp22.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (14448779..14731812)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (14029009..14312340)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (14547420..14749934)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancers GRCh37_chrX:14047600-14048100 and GRCh37_chrX:14048101-14048601 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:14051018-14051200 Neighboring gene gem nuclear organelle associated protein 8 Neighboring gene ubiquitin conjugating enzyme E2 E4 pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:14369907-14370598 Neighboring gene uncharacterized LOC107985686 Neighboring gene NANOG hESC enhancer GRCh37_chrX:14584711-14585313 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:14691306-14692505 Neighboring gene FA complementation group B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20671 Neighboring gene nucleophosmin 1 pseudogene 9 Neighboring gene motile sperm domain containing 2

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Differential agonist sensitivity of glycine receptor alpha2 subunit splice variants. Miller PS, et al. Br J Pharmacol, 2004 Sep. PMID 15302677, Free PMC Article
  2. Systematic screening for mutations in the glycine receptor alpha2 subunit gene (GLRA2) in patients with schizophrenia and other psychiatric diseases. Feng J, et al. Psychiatr Genet, 2001 Mar. PMID 11409700
  3. Analysis of the genomic structure of the human glycine receptor alpha2 subunit gene and exclusion of this gene as a candidate for Rett syndrome. Cummings CJ, et al. Am J Med Genet, 1998 Jun 30. PMID 9674912
  4. GLRA2 gene mutations cause high myopia in humans and mice. Tian Q, et al. J Med Genet, 2023 Feb. PMID 35396272, Free PMC Article
  5. Differentiated human midbrain-derived neural progenitor cells express excitatory strychnine-sensitive glycine receptors containing α2β subunits. Wegner F, et al. PLoS One, 2012. PMID 22606311, Free PMC Article

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. GLRA2 gene mutations cause high myopia in humans and mice.
    Title: GLRA2 gene mutations cause high myopia in humans and mice.
  2. data show that the current-voltage relationships of homomeric channels formed by the alpha2 or alpha3 subunits change upon receptor desensitization from a linear to an inwardly rectifying shape, in contrast to their heteromeric counterparts.
    Title: Electrophysiological Signature of Homomeric and Heteromeric Glycine Receptor Channels.
  3. investigated neural progenitor cells in respect to their glycine receptor function and subunit expression using electrophysiology, calcium imaging, immunocytochemistry, and quantitative real-time PCR
    Title: Differentiated human midbrain-derived neural progenitor cells express excitatory strychnine-sensitive glycine receptors containing α2β subunits.
  4. Enhancement of azurophil granule-phagosome fusion via glycine receptor alpha 2 subunit (GlyRalpha2)/transient receptor potential melastatin (TRPM)2/p38 MAP kinase signaling is a novel target for enhancement of neutrophil bactericidal activity.
    Title: Lysophosphatidylcholine increases neutrophil bactericidal activity by enhancement of azurophil granule-phagosome fusion via glycine.GlyR alpha 2/TRPM2/p38 MAPK signaling.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetical genomic determinants of alcohol consumption in rats and humans.
  6. The molecular basis for the differential sensitivity of GlyR alpha(1) and GlyR alpha(2) to Zn(2+) potentiation is reported.
    Title: Molecular basis for zinc potentiation at strychnine-sensitive glycine receptors.
  7. Effects of 12 times normal atmospheric pressure of helium-oxygen gas (pressure) on ethanol-induced potentiation of GlyR function in Xenopus oocytes expressing human alpha1, alpha2 or the mutant alpha1(A52S) GlyRs were measured by voltage clamp technics
    Title: Multiple sites of ethanol action in alpha1 and alpha2 glycine receptors suggested by sensitivity to pressure antagonism.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Intellectual developmental disorder, X-linked, syndromic, Pilorge type
MedGen: C5676881 OMIM: 301076 GeneReviews: Not available
not available

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables excitatory extracellular ligand-gated monoatomic ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables extracellularly glycine-gated chloride channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables glycine binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables glycine-gated chloride ion channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables neurotransmitter receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transmembrane signaling receptor activity IEA
Inferred from Electronic Annotation
more info
  
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cellular response to amino acid stimulus IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to ethanol IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to zinc ion IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in chloride transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
  
involved_in monoatomic ion transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in neuropeptide signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of chloride channel complex IEA
Inferred from Electronic Annotation
more info
  
located_in glycinergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in synapse IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of transmembrane transporter complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

Go to the top of the page Help
Preferred Names
glycine receptor subunit alpha-2
Names
glycine receptor alpha 2 subunit
glycine receptor, alpha-2 polypeptide

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016459.3 RefSeqGene

    Range
    85759..288035
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001118885.2 → NP_001112357.1  glycine receptor subunit alpha-2 isoform A precursor

    See identical proteins and their annotated locations for NP_001112357.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (A).
    Source sequence(s)
    AA081959, AK312591, BC045547
    Consensus CDS
    CCDS14160.1
    UniProtKB/Swiss-Prot
    A8K0J6, B2R6I8, B7Z4F5, J3KQ59, P23416, Q53YX7, Q6ICQ0, Q99862
    UniProtKB/TrEMBL
    B7Z4E9
    Conserved Domains (1) summary
    TIGR00860
    Location:46 → 441
    LIC; Cation transporter family protein

  2. NM_001118886.2 → NP_001112358.1  glycine receptor subunit alpha-2 isoform B precursor

    See identical proteins and their annotated locations for NP_001112358.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate in-frame exon and lacks an exon, compared to variant 1, resulting in a protein (isoform B) of identical length but differing in 2 amino acids, compared to isoform A.
    Source sequence(s)
    AA081959, AK289561, AY437083, BC045547, DA495302
    Consensus CDS
    CCDS48085.1
    UniProtKB/TrEMBL
    B7Z4E9
    Related
    ENSP00000347123.4, ENST00000355020.9
    Conserved Domains (3) summary
    TIGR00860
    Location:46 → 441
    LIC; Cation transporter family protein
    pfam02931
    Location:48 → 254
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:261 → 438
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

  3. NM_001171942.2 → NP_001165413.1  glycine receptor subunit alpha-2 isoform C

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (C) is shorter at the N-terminus compared to isoform A.
    Source sequence(s)
    AC003658, AK297304, AK312591, BC045547
    Consensus CDS
    CCDS55371.1
    UniProtKB/TrEMBL
    B7Z4E9
    Conserved Domains (1) summary
    cl27321
    Location:1 → 352
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

  4. NM_002063.4 → NP_002054.1  glycine receptor subunit alpha-2 isoform A precursor

    See identical proteins and their annotated locations for NP_002054.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform A.
    Source sequence(s)
    AA081959, AY437083, BC045547, DA495302
    Consensus CDS
    CCDS14160.1
    UniProtKB/Swiss-Prot
    A8K0J6, B2R6I8, B7Z4F5, J3KQ59, P23416, Q53YX7, Q6ICQ0, Q99862
    UniProtKB/TrEMBL
    B7Z4E9
    Related
    ENSP00000218075.4, ENST00000218075.9
    Conserved Domains (1) summary
    TIGR00860
    Location:46 → 441
    LIC; Cation transporter family protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    14448779..14731812
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047441999.1 → XP_047297955.1  glycine receptor subunit alpha-2 isoform X2

    UniProtKB/Swiss-Prot
    A8K0J6, B2R6I8, B7Z4F5, J3KQ59, P23416, Q53YX7, Q6ICQ0, Q99862

  2. XM_017029427.2 → XP_016884916.1  glycine receptor subunit alpha-2 isoform X1

    UniProtKB/TrEMBL
    B7Z4E9
    Conserved Domains (3) summary
    TIGR00860
    Location:46 → 441
    LIC; Cation transporter family protein
    pfam02931
    Location:48 → 254
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:261 → 438
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

  3. XM_006724487.4 → XP_006724550.1  glycine receptor subunit alpha-2 isoform X3

    See identical proteins and their annotated locations for XP_006724550.1

    UniProtKB/TrEMBL
    B7Z4E9
    Conserved Domains (1) summary
    TIGR00860
    Location:30 → 425
    LIC; Cation transporter family protein

  4. XM_047442000.1 → XP_047297956.1  glycine receptor subunit alpha-2 isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    14029009..14312340
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054326855.1 → XP_054182830.1  glycine receptor subunit alpha-2 isoform X2

    UniProtKB/Swiss-Prot
    A8K0J6, B2R6I8, B7Z4F5, J3KQ59, P23416, Q53YX7, Q6ICQ0, Q99862

  2. XM_054326854.1 → XP_054182829.1  glycine receptor subunit alpha-2 isoform X1

  3. XM_054326856.1 → XP_054182831.1  glycine receptor subunit alpha-2 isoform X3

  4. XM_054326857.1 → XP_054182832.1  glycine receptor subunit alpha-2 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P23416.1 GenPept UniProtKB/Swiss-Prot:P23416

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous