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

    Gene ID: 2742, updated on 9-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GLRA2 in Genome Data Viewer
    Location:
    Xp22.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (14448779..14731812)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (14029009..14312340)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    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 specialization membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    glycine receptor subunit alpha-2
    Names
    glycine receptor alpha 2 subunit
    glycine receptor, alpha-2 polypeptide

    NCBI Reference Sequences (RefSeq)

    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_001118885.2NP_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:46441
      LIC; Cation transporter family protein
    2. NM_001118886.2NP_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:46441
      LIC; Cation transporter family protein
      pfam02931
      Location:48254
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:261438
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    3. NM_001171942.2NP_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:1352
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    4. NM_002063.4NP_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:46441
      LIC; Cation transporter family protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_047441999.1XP_047297955.1  glycine receptor subunit alpha-2 isoform X2

      UniProtKB/Swiss-Prot
      A8K0J6, B2R6I8, B7Z4F5, J3KQ59, P23416, Q53YX7, Q6ICQ0, Q99862
      UniProtKB/TrEMBL
      B7Z4E9
    2. XM_017029427.2XP_016884916.1  glycine receptor subunit alpha-2 isoform X1

      UniProtKB/TrEMBL
      B7Z4E9
      Conserved Domains (3) summary
      TIGR00860
      Location:46441
      LIC; Cation transporter family protein
      pfam02931
      Location:48254
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:261438
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    3. XM_006724487.4XP_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:30425
      LIC; Cation transporter family protein
    4. XM_047442000.1XP_047297956.1  glycine receptor subunit alpha-2 isoform X4

      UniProtKB/TrEMBL
      B7Z4E9

    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_054326855.1XP_054182830.1  glycine receptor subunit alpha-2 isoform X2

      UniProtKB/Swiss-Prot
      A8K0J6, B2R6I8, B7Z4F5, J3KQ59, P23416, Q53YX7, Q6ICQ0, Q99862
      UniProtKB/TrEMBL
      B7Z4E9
    2. XM_054326854.1XP_054182829.1  glycine receptor subunit alpha-2 isoform X1

      UniProtKB/TrEMBL
      B7Z4E9
    3. XM_054326856.1XP_054182831.1  glycine receptor subunit alpha-2 isoform X3

      UniProtKB/TrEMBL
      B7Z4E9
    4. XM_054326857.1XP_054182832.1  glycine receptor subunit alpha-2 isoform X4

      UniProtKB/TrEMBL
      B7Z4E9