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    GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 [ Homo sapiens (human) ]

    Gene ID: 2555, updated on 13-Apr-2024

    Summary

    Official Symbol
    GABRA2provided by HGNC
    Official Full Name
    gamma-aminobutyric acid type A receptor subunit alpha2provided by HGNC
    Primary source
    HGNC:HGNC:4076
    See related
    Ensembl:ENSG00000151834 MIM:137140; AllianceGenome:HGNC:4076
    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
    DEE78; EIEE78
    Summary
    GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
    Expression
    Biased expression in brain (RPKM 13.5), kidney (RPKM 1.1) and 1 other tissue See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    4p12
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (46243548..46390300, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (46210399..46357479, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (46245565..46392317, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak5030 silencer Neighboring gene RN7SK pseudogene 199 Neighboring gene gamma-aminobutyric acid type A receptor subunit gamma1 Neighboring gene Sharpr-MPRA regulatory region 442 Neighboring gene RNA, U6 small nuclear 412, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr4:46687601-46687815 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:46725989-46726490 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:46726491-46726990 Neighboring gene Rac family small GTPase 1 pseudogene 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?

    Phenotypes

    Associated conditions

    Description Tests
    Addictive alcohol use
    MedGen: C0001973 OMIM: 103780 GeneReviews: Not available
    Compare labs
    Developmental and epileptic encephalopathy, 78
    MedGen: C5231409 OMIM: 618557 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 induces mucus formation through the NACHRA7/GABRA2 pathway in normal human bronchial epithelial cells PubMed
    env MUC5AC and GABRA2 are upregulated more strongly by HIV-1 X4- and X4/R5- than R5-tropic gp120 in normal human bronchial epithelial cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ97076

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    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 gamma-aminobutyric acid signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in gamma-aminobutyric acid signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in inhibitory synapse assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in inhibitory synapse assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of postsynaptic membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of presynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in synaptic transmission, GABAergic IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    part_of GABA-A receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of GABA-A receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
     
    part_of chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in dendrite membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in inhibitory synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in postsynapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in postsynaptic specialization membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in synaptic vesicle membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transmembrane transporter complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    gamma-aminobutyric acid receptor subunit alpha-2
    Names
    GABA(A) receptor subunit alpha-2
    gamma-aminobutyric acid type A receptor alpha2 subunit

    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_012835.2 RefSeqGene

      Range
      4912..151492
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000807.4NP_000798.2  gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor

      See identical proteins and their annotated locations for NP_000798.2

      Status: REVIEWED

      Source sequence(s)
      AB209295, AC095060, AC104072, AF086092, BX108394, DA778940, DB478542, DN991770
      Consensus CDS
      CCDS3471.1
      UniProtKB/Swiss-Prot
      A8K0U7, B7Z1H8, P47869, Q59G14
      UniProtKB/TrEMBL
      Q8TBI4
      Related
      ENSP00000371033.4, ENST00000381620.9
      Conserved Domains (2) summary
      TIGR00860
      Location:25440
      LIC; Cation transporter family protein
      cd19035
      Location:47249
      LGIC_ECD_GABAAR_A2; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-2 (GABAAR-A2 or GABRA2)
    2. NM_001114175.3NP_001107647.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor

      See identical proteins and their annotated locations for NP_001107647.1

      Status: REVIEWED

      Source sequence(s)
      AC093745, AC095060, AC104072
      Consensus CDS
      CCDS3471.1
      UniProtKB/Swiss-Prot
      A8K0U7, B7Z1H8, P47869, Q59G14
      UniProtKB/TrEMBL
      Q8TBI4
      Related
      ENSP00000348897.1, ENST00000356504.5
      Conserved Domains (2) summary
      TIGR00860
      Location:25440
      LIC; Cation transporter family protein
      cd19035
      Location:47249
      LGIC_ECD_GABAAR_A2; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-2 (GABAAR-A2 or GABRA2)
    3. NM_001286827.3NP_001273756.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform b

      See identical proteins and their annotated locations for NP_001273756.1

      Status: REVIEWED

      Source sequence(s)
      AC095060, AC104072, AF086092, AK293466, BX108394, DA778940, DB478542, DN991770
      UniProtKB/Swiss-Prot
      P47869
      Conserved Domains (3) summary
      TIGR00860
      Location:31445
      LIC; Cation transporter family protein
      cd03558
      Location:111125
      LGIC_ECD; Cys-loop [structural motif]
      cl28912
      Location:9194
      LGIC_ECD; extracellular domain (ECD) of Cys-loop neurotransmitter-gated ion channels (also known as ligand-gated ion channel (LGIC))
    4. NM_001330690.2NP_001317619.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform c precursor

      Status: REVIEWED

      Source sequence(s)
      AC093745, AC095060, AC104072
      Consensus CDS
      CCDS82921.1
      UniProtKB/TrEMBL
      E9PBQ7
      Conserved Domains (2) summary
      TIGR00860
      Location:25500
      LIC; Cation transporter family protein
      cd19035
      Location:47249
      LGIC_ECD_GABAAR_A2; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-2 (GABAAR-A2 or GABRA2)
    5. NM_001377144.1NP_001364073.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform c precursor

      Status: REVIEWED

      Source sequence(s)
      AC093745, AC095060, AC104072
      Consensus CDS
      CCDS82921.1
      UniProtKB/TrEMBL
      E9PBQ7
      Related
      ENSP00000444409.2, ENST00000540012.5
      Conserved Domains (2) summary
      TIGR00860
      Location:25500
      LIC; Cation transporter family protein
      cd19035
      Location:47249
      LGIC_ECD_GABAAR_A2; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-2 (GABAAR-A2 or GABRA2)
    6. NM_001377145.1NP_001364074.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform c precursor

      Status: REVIEWED

      Source sequence(s)
      AC093745, AC095060, AC104072
      Consensus CDS
      CCDS82921.1
      UniProtKB/TrEMBL
      E9PBQ7
      Related
      ENSP00000427603.1, ENST00000507069.5
      Conserved Domains (2) summary
      TIGR00860
      Location:25500
      LIC; Cation transporter family protein
      cd19035
      Location:47249
      LGIC_ECD_GABAAR_A2; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-2 (GABAAR-A2 or GABRA2)
    7. NM_001377146.1NP_001364075.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor

      Status: REVIEWED

      Source sequence(s)
      AC093745, AC095060, AC104072
      Consensus CDS
      CCDS3471.1
      UniProtKB/Swiss-Prot
      A8K0U7, B7Z1H8, P47869, Q59G14
      UniProtKB/TrEMBL
      Q8TBI4
      Conserved Domains (2) summary
      TIGR00860
      Location:25440
      LIC; Cation transporter family protein
      cd19035
      Location:47249
      LGIC_ECD_GABAAR_A2; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-2 (GABAAR-A2 or GABRA2)
    8. NM_001377147.1NP_001364076.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor

      Status: REVIEWED

      Source sequence(s)
      AC093745, AC095060, AC104072
      Consensus CDS
      CCDS3471.1
      UniProtKB/Swiss-Prot
      A8K0U7, B7Z1H8, P47869, Q59G14
      UniProtKB/TrEMBL
      Q8TBI4
      Conserved Domains (2) summary
      TIGR00860
      Location:25440
      LIC; Cation transporter family protein
      cd19035
      Location:47249
      LGIC_ECD_GABAAR_A2; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-2 (GABAAR-A2 or GABRA2)
    9. NM_001377148.1NP_001364077.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor

      Status: REVIEWED

      Source sequence(s)
      AC093745, AC095060, AC104072
      Consensus CDS
      CCDS3471.1
      UniProtKB/Swiss-Prot
      A8K0U7, B7Z1H8, P47869, Q59G14
      UniProtKB/TrEMBL
      Q8TBI4
      Conserved Domains (2) summary
      TIGR00860
      Location:25440
      LIC; Cation transporter family protein
      cd19035
      Location:47249
      LGIC_ECD_GABAAR_A2; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-2 (GABAAR-A2 or GABRA2)
    10. NM_001377149.1NP_001364078.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor

      Status: REVIEWED

      Source sequence(s)
      AC093745, AC095060, AC104072
      Consensus CDS
      CCDS3471.1
      UniProtKB/Swiss-Prot
      A8K0U7, B7Z1H8, P47869, Q59G14
      UniProtKB/TrEMBL
      Q8TBI4
      Related
      ENSP00000421300.1, ENST00000514090.5
      Conserved Domains (2) summary
      TIGR00860
      Location:25440
      LIC; Cation transporter family protein
      cd19035
      Location:47249
      LGIC_ECD_GABAAR_A2; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-2 (GABAAR-A2 or GABRA2)
    11. NM_001377150.1NP_001364079.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor

      Status: REVIEWED

      Source sequence(s)
      AC093745, AC095060, AC104072
      Consensus CDS
      CCDS3471.1
      UniProtKB/Swiss-Prot
      A8K0U7, B7Z1H8, P47869, Q59G14
      UniProtKB/TrEMBL
      Q8TBI4
      Conserved Domains (2) summary
      TIGR00860
      Location:25440
      LIC; Cation transporter family protein
      cd19035
      Location:47249
      LGIC_ECD_GABAAR_A2; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-2 (GABAAR-A2 or GABRA2)
    12. NM_001377151.1NP_001364080.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor

      Status: REVIEWED

      Source sequence(s)
      AC093745, AC095060, AC104072
      Consensus CDS
      CCDS3471.1
      UniProtKB/Swiss-Prot
      A8K0U7, B7Z1H8, P47869, Q59G14
      UniProtKB/TrEMBL
      Q8TBI4
      Conserved Domains (2) summary
      TIGR00860
      Location:25440
      LIC; Cation transporter family protein
      cd19035
      Location:47249
      LGIC_ECD_GABAAR_A2; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-2 (GABAAR-A2 or GABRA2)
    13. NM_001377152.1NP_001364081.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC093745, AC095060, AC104072
      Conserved Domains (3) summary
      TIGR00860
      Location:31385
      LIC; Cation transporter family protein
      cd03558
      Location:111125
      LGIC_ECD; Cys-loop [structural motif]
      cl28912
      Location:12194
      LGIC_ECD; extracellular domain (ECD) of Cys-loop neurotransmitter-gated ion channels (also known as ligand-gated ion channel (LGIC))
    14. NM_001377153.1NP_001364082.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC093745, AC095060, AC104072
      Conserved Domains (3) summary
      TIGR00860
      Location:31385
      LIC; Cation transporter family protein
      cd03558
      Location:111125
      LGIC_ECD; Cys-loop [structural motif]
      cl28912
      Location:12194
      LGIC_ECD; extracellular domain (ECD) of Cys-loop neurotransmitter-gated ion channels (also known as ligand-gated ion channel (LGIC))
    15. NM_001377154.1NP_001364083.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC093745, AC095060, AC104072
      Conserved Domains (3) summary
      TIGR00860
      Location:31385
      LIC; Cation transporter family protein
      cd03558
      Location:111125
      LGIC_ECD; Cys-loop [structural motif]
      cl28912
      Location:12194
      LGIC_ECD; extracellular domain (ECD) of Cys-loop neurotransmitter-gated ion channels (also known as ligand-gated ion channel (LGIC))
    16. NM_001377155.1NP_001364084.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform e precursor

      Status: REVIEWED

      Source sequence(s)
      AC093745, AC095060, AC104072
      Consensus CDS
      CCDS93494.1
      UniProtKB/TrEMBL
      G5E9Z6, Q8TBI4
      Related
      ENSP00000423840.1, ENST00000515082.5
      Conserved Domains (2) summary
      cd19035
      Location:47249
      LGIC_ECD_GABAAR_A2; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-2 (GABAAR-A2 or GABRA2)
      cd19052
      Location:252337
      LGIC_TM_GABAAR_alpha; transmembrane domain of alpha subunits of type-A gamma-aminobutyric acid receptor (GABAAR)

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      46243548..46390300 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024453967.2XP_024309735.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform X1

      UniProtKB/TrEMBL
      E9PBQ7
      Conserved Domains (2) summary
      TIGR00860
      Location:25500
      LIC; Cation transporter family protein
      cd19035
      Location:47249
      LGIC_ECD_GABAAR_A2; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-2 (GABAAR-A2 or GABRA2)
    2. XM_011513675.2XP_011511977.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform X1

      See identical proteins and their annotated locations for XP_011511977.1

      UniProtKB/TrEMBL
      E9PBQ7
      Conserved Domains (2) summary
      TIGR00860
      Location:25500
      LIC; Cation transporter family protein
      cd19035
      Location:47249
      LGIC_ECD_GABAAR_A2; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-2 (GABAAR-A2 or GABRA2)
    3. XM_024453964.2XP_024309732.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform X1

      UniProtKB/TrEMBL
      E9PBQ7
      Conserved Domains (2) summary
      TIGR00860
      Location:25500
      LIC; Cation transporter family protein
      cd19035
      Location:47249
      LGIC_ECD_GABAAR_A2; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-2 (GABAAR-A2 or GABRA2)
    4. XM_024453966.2XP_024309734.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform X1

      UniProtKB/TrEMBL
      E9PBQ7
      Conserved Domains (2) summary
      TIGR00860
      Location:25500
      LIC; Cation transporter family protein
      cd19035
      Location:47249
      LGIC_ECD_GABAAR_A2; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-2 (GABAAR-A2 or GABRA2)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      46210399..46357479 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349539.1XP_054205514.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform X1

      UniProtKB/TrEMBL
      E9PBQ7
    2. XM_054349537.1XP_054205512.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform X1

      UniProtKB/TrEMBL
      E9PBQ7
    3. XM_054349536.1XP_054205511.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform X1

      UniProtKB/TrEMBL
      E9PBQ7
    4. XM_054349538.1XP_054205513.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform X1

      UniProtKB/TrEMBL
      E9PBQ7