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

Gene ID: 2555, updated on 2-Mar-2021

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
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
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Genomic context

See GABRA2 in Genome Data Viewer
Location:
4p12
Exon count:
14
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (46243548..46390300, complement)
105.20201022 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 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

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
Alcohol dependence
MedGen: C0001973 OMIM: 103780 GeneReviews: Not available
Compare labs
Developmental and epileptic encephalopathy, 78
MedGen: C5231409 OMIM: 618557 GeneReviews: Not available
not available
Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.
GeneReviews: Not available

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ97076

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to GABA-A receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GABA-gated chloride ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GABA-gated chloride ion channel activity IDA
Inferred from Direct Assay
more info
PubMed 
benzodiazepine receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
contributes_to chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inhibitory extracellular ligand-gated ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neurotransmitter receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
gamma-aminobutyric acid signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gamma-aminobutyric acid signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
inhibitory synapse assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nervous system process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neurotransmitter transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of neurotransmitter levels IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of postsynaptic membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic transmission, GABAergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
GABA-A receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GABA-A receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
dendrite membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of synaptic vesicle membrane IDA
Inferred from Direct Assay
more info
PubMed 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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
    P47869
    UniProtKB/TrEMBL
    A0A024R9X6
    Related
    ENSP00000371033.4, ENST00000381620.8
    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
    P47869
    UniProtKB/TrEMBL
    A0A024R9X6
    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 (2) summary
    TIGR00860
    Location:31445
    LIC; Cation transporter family protein
    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/Swiss-Prot
    P47869
    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
    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
    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
    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
    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
    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
    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
    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
    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 (2) summary
    TIGR00860
    Location:31385
    LIC; Cation transporter family protein
    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 (2) summary
    TIGR00860
    Location:31385
    LIC; Cation transporter family protein
    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 (2) summary
    TIGR00860
    Location:31385
    LIC; Cation transporter family protein
    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
    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: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

    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_024453964.1XP_024309732.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform X1

    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_011513675.1XP_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)
  4. XM_024453966.1XP_024309734.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform X1

    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)
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