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    GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 [ Homo sapiens (human) ]

    Gene ID: 2566, updated on 17-Jun-2024

    Summary

    Official Symbol
    GABRG2provided by HGNC
    Official Full Name
    gamma-aminobutyric acid type A receptor subunit gamma2provided by HGNC
    Primary source
    HGNC:HGNC:4087
    See related
    Ensembl:ENSG00000113327 MIM:137164; AllianceGenome:HGNC:4087
    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
    CAE2; ECA2; FEB8; DEE74; EIEE74; GEFSP3
    Summary
    This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward brain (RPKM 32.3) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GABRG2 in Genome Data Viewer
    Location:
    5q34
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (162067465..162155539)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (162596314..162684391)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (161494471..161582545)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377696 Neighboring gene gamma-aminobutyric acid type A receptor subunit alpha1 Neighboring gene long intergenic non-protein coding RNA 1202 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:161463099-161463705 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:161701629-161702344 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:161702345-161703059 Neighboring gene RNA, U6 small nuclear 164, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:161957797-161958312 Neighboring gene uncharacterized LOC105377697

    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
    Developmental and epileptic encephalopathy, 74
    MedGen: C5193074 OMIM: 618396 GeneReviews: Not available
    Compare labs
    Febrile seizures, familial, 8
    MedGen: C1969810 OMIM: 607681 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2018-09-25)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2018-09-25)

    ClinGen Genome Curation PagePubMed

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat activates a CaMKII pathway at inhibitory synapses that leads to structural changes in GABARAP, resulting in increased membrane insertion of the gamma 2 subunit of GABAR 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to GABA-A receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GABA-A receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GABA-A receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    contributes_to GABA-gated chloride ion channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GABA-gated chloride ion channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to benzodiazepine receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    contributes_to chloride channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables chloride channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables neurotransmitter receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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 adult behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to histamine ISS
    Inferred from Sequence or Structural Similarity
    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 chloride transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in gamma-aminobutyric acid signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in gamma-aminobutyric acid signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in gamma-aminobutyric acid signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in gamma-aminobutyric acid signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in inhibitory synapse assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in inhibitory synapse assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of postsynaptic membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in synaptic transmission, GABAergic IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in synaptic transmission, GABAergic ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in synaptic transmission, GABAergic NAS
    Non-traceable Author Statement
    more info
    PubMed 
    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 IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of GABA-A receptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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
     
    located_in cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in dendrite membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in dendrite membrane ISS
    Inferred from Sequence or Structural Similarity
    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 ISS
    Inferred from Sequence or Structural Similarity
    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 ISS
    Inferred from Sequence or Structural Similarity
    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

    Preferred Names
    gamma-aminobutyric acid receptor subunit gamma-2
    Names
    GABA(A) receptor subunit gamma-2
    GABA(A) receptor, gamma 2
    GABAAR subunit gamma-2
    gamma-aminobutyric acid (GABA) A receptor, gamma 2
    gamma-aminobutyric acid type A receptor gamma2 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_009290.1 RefSeqGene

      Range
      5132..92885
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000816.3NP_000807.2  gamma-aminobutyric acid receptor subunit gamma-2 isoform 2 precursor

      See identical proteins and their annotated locations for NP_000807.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons, compared to variant 3. It encodes isoform 2 which is shorter than isoform 3.
      Source sequence(s)
      AC091984, BC069348, BC074795, DA226729
      Consensus CDS
      CCDS4358.1
      UniProtKB/TrEMBL
      A0A286YFI6
      Related
      ENSP00000492125.2, ENST00000639111.2
      Conserved Domains (2) summary
      TIGR00860
      Location:69464
      LIC; Cation transporter family protein
      cd19000
      Location:90271
      LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma
    2. NM_001375339.1NP_001362268.1  gamma-aminobutyric acid receptor subunit gamma-2 isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AC008611, AC091926, AC091984
      UniProtKB/TrEMBL
      A0A1X7SBS5
      Conserved Domains (2) summary
      TIGR00860
      Location:66469
      LIC; Cation transporter family protein
      cd19000
      Location:87268
      LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma
    3. NM_001375340.1NP_001362269.1  gamma-aminobutyric acid receptor subunit gamma-2 isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AC008611, AC091926, AC091984
      UniProtKB/TrEMBL
      A0A1W2PPN5, A0A1W2PPS4
      Conserved Domains (3) summary
      cd19000
      Location:90271
      LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma
      cd03559
      Location:277297
      LGIC_TM; TM1 helix [structural motif]
      cl38911
      Location:274307
      LGIC_TM; transmembrane domain of Cys-loop neurotransmitter-gated ion channels
    4. NM_001375341.1NP_001362270.1  gamma-aminobutyric acid receptor subunit gamma-2 isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AC008611, AC091926, AC091984
      UniProtKB/TrEMBL
      A0A1X7SBS5
      Conserved Domains (2) summary
      cd19000
      Location:90270
      LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma
      cl42365
      Location:69471
      LIC; Cation transporter family protein
    5. NM_001375342.1NP_001362271.1  gamma-aminobutyric acid receptor subunit gamma-2 isoform 7 precursor

      Status: REVIEWED

      Source sequence(s)
      AC008611, AC091926, AC091984
      UniProtKB/TrEMBL
      A0A286YFI6
      Conserved Domains (2) summary
      TIGR00860
      Location:69463
      LIC; Cation transporter family protein
      cd19000
      Location:90270
      LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma
    6. NM_001375343.1NP_001362272.1  gamma-aminobutyric acid receptor subunit gamma-2 isoform 8 precursor

      Status: REVIEWED

      Source sequence(s)
      AC008611, AC091926, AC091984
      Consensus CDS
      CCDS93813.1
      UniProtKB/TrEMBL
      A0A1X7SBZ8, A0A286YFI6
      Related
      ENSP00000354651.5, ENST00000361925.9
      Conserved Domains (2) summary
      TIGR00860
      Location:69504
      LIC; Cation transporter family protein
      cd19000
      Location:90311
      LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma
    7. NM_001375344.1NP_001362273.1  gamma-aminobutyric acid receptor subunit gamma-2 isoform 9 precursor

      Status: REVIEWED

      Source sequence(s)
      AC008611, AC091926, AC091984
      UniProtKB/TrEMBL
      A0A1X7SBS5
      Related
      ENSP00000349000.4, ENST00000356592.8
      Conserved Domains (2) summary
      cd19000
      Location:90284
      LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma
      cl42365
      Location:69485
      LIC; Cation transporter family protein
    8. NM_001375345.1NP_001362274.1  gamma-aminobutyric acid receptor subunit gamma-2 isoform 10 precursor

      Status: REVIEWED

      Source sequence(s)
      AC008611, AC091926, AC091984
      Consensus CDS
      CCDS93815.1
      UniProtKB/TrEMBL
      A0A1W2PR49, A0A1X7SBS5
      Related
      ENSP00000492096.1, ENST00000639975.1
      Conserved Domains (2) summary
      TIGR00860
      Location:47442
      LIC; Cation transporter family protein
      cd19000
      Location:68249
      LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma
    9. NM_001375346.1NP_001362275.1  gamma-aminobutyric acid receptor subunit gamma-2 isoform 11 precursor

      Status: REVIEWED

      Source sequence(s)
      AC008611, AC091926, AC091984
      Consensus CDS
      CCDS93814.1
      UniProtKB/TrEMBL
      A0A1W2PRN4, A0A1X7SBS5
      Related
      ENSP00000492581.1, ENST00000639683.1
      Conserved Domains (2) summary
      TIGR00860
      Location:47450
      LIC; Cation transporter family protein
      cd19000
      Location:68249
      LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma
    10. NM_001375347.1NP_001362276.1  gamma-aminobutyric acid receptor subunit gamma-2 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC008611, AC091926, AC091984
      Consensus CDS
      CCDS93812.1
      UniProtKB/TrEMBL
      A0A1W2PQR9, A0A1X7SBS5
      Related
      ENSP00000492293.1, ENST00000640985.1
      Conserved Domains (2) summary
      TIGR00860
      Location:40443
      LIC; Cation transporter family protein
      cd19000
      Location:61242
      LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma
    11. NM_001375348.1NP_001362277.1  gamma-aminobutyric acid receptor subunit gamma-2 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC008611, AC091926, AC091984
      Conserved Domains (2) summary
      TIGR00860
      Location:3324
      LIC; Cation transporter family protein
      cl28912
      Location:1131
      LGIC_ECD; extracellular domain (ECD) of Cys-loop neurotransmitter-gated ion channels (also known as ligand-gated ion channel (LGIC))
    12. NM_001375349.1NP_001362278.1  gamma-aminobutyric acid receptor subunit gamma-2 isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC008611, AC091984, AK299640
      Consensus CDS
      CCDS93816.1
      UniProtKB/TrEMBL
      A8MWU7, B4DSA1, C9JAR3
      Related
      ENSP00000491763.1, ENST00000638552.1
      Conserved Domains (2) summary
      TIGR00860
      Location:2369
      LIC; Cation transporter family protein
      cd19000
      Location:1176
      LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma
    13. NM_001375350.1NP_001362279.1  gamma-aminobutyric acid receptor subunit gamma-2 isoform 15

      Status: REVIEWED

      Source sequence(s)
      AC008611, AC091926, AC091984
      Conserved Domains (2) summary
      TIGR00860
      Location:3332
      LIC; Cation transporter family protein
      cl28912
      Location:1131
      LGIC_ECD; extracellular domain (ECD) of Cys-loop neurotransmitter-gated ion channels (also known as ligand-gated ion channel (LGIC))
    14. NM_198903.2NP_944493.2  gamma-aminobutyric acid receptor subunit gamma-2 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (3).
      Source sequence(s)
      AC008611, AC091926, AC091984
      Consensus CDS
      CCDS47333.1
      UniProtKB/TrEMBL
      A0A1X7SBS5
      Related
      ENSP00000410732.2, ENST00000414552.6
      Conserved Domains (3) summary
      TIGR00860
      Location:69512
      LIC; Cation transporter family protein
      pfam02931
      Location:69312
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:319509
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    15. NM_198904.4NP_944494.1  gamma-aminobutyric acid receptor subunit gamma-2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_944494.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an alternate in-frame exon, compared to variant 3. It encodes isoform 1 which is shorter than isoform 3.
      Source sequence(s)
      AC008611, AC091984, AK315200
      Consensus CDS
      CCDS4359.1
      UniProtKB/Swiss-Prot
      F5HB82, P18507, Q6GRL6, Q6PCC3, Q9UDB3, Q9UN15
      UniProtKB/TrEMBL
      A0A1X7SBS5
      Related
      ENSP00000491909.2, ENST00000639213.2
      Conserved Domains (2) summary
      TIGR00860
      Location:69472
      LIC; Cation transporter family protein
      cd19000
      Location:90271
      LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      162067465..162155539
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      162596314..162684391
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)