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

Gene ID: 2566, updated on 3-Oct-2020

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
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; 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

Genomic context

See GABRG2 in Genome Data Viewer
Location:
5q34
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (162067465..162155539)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (161494648..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 RNA, U6 small nuclear 164, pseudogene 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
Epilepsy, childhood absence 2
MedGen: C1843244 OMIM: 607681 GeneReviews: Not available
Compare labs
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74
MedGen: C5193074 OMIM: 618396 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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-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 
contributes_to benzodiazepine receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
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 
protein binding IPI
Inferred from Physical Interaction
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
adult behavior IEA
Inferred from Electronic Annotation
more info
 
cellular response to histamine ISS
Inferred from Sequence or Structural Similarity
more info
 
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
gamma-aminobutyric acid signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inhibitory synapse assembly IDA
Inferred from Direct Assay
more info
PubMed 
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 
post-embryonic development IEA
Inferred from Electronic Annotation
more info
 
regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
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 
synaptic transmission, GABAergic ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
GABA-A receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GABA-A receptor complex ISS
Inferred from Sequence or Structural Similarity
more info
 
GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
 
axon IEA
Inferred from Electronic Annotation
more info
 
chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
dendrite membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendrite membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
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 gamma-2
Names
GABA(A) receptor subunit gamma-2
GABA(A) receptor, gamma 2
gamma-aminobutyric acid (GABA) A receptor, gamma 2
gamma-aminobutyric acid type A receptor gamma2 subunit

NCBI Reference Sequences (RefSeq)

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
    5001..92898
    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/Swiss-Prot
    P18507
    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

    Status: REVIEWED

    Source sequence(s)
    AC008611, AC091926, AC091984
    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
    Conserved Domains (3) summary
    cd19000
    Location:90271
    LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma
    cd03559
    Location:274297
    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
    Conserved Domains (2) summary
    TIGR00860
    Location:69471
    LIC; Cation transporter family protein
    cd19000
    Location:90270
    LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma
  5. NM_001375342.1NP_001362271.1  gamma-aminobutyric acid receptor subunit gamma-2 isoform 7 precursor

    Status: REVIEWED

    Source sequence(s)
    AC008611, AC091926, AC091984
    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
    Related
    ENSP00000354651.5, ENST00000361925.9
  7. NM_001375344.1NP_001362273.1  gamma-aminobutyric acid receptor subunit gamma-2 isoform 9 precursor

    Status: REVIEWED

    Source sequence(s)
    AC008611, AC091926, AC091984
    Related
    ENSP00000349000.4, ENST00000356592.8
    Conserved Domains (2) summary
    TIGR00860
    Location:69485
    LIC; Cation transporter family protein
    cd19000
    Location:90284
    LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma
  8. NM_001375345.1NP_001362274.1  gamma-aminobutyric acid receptor subunit gamma-2 isoform 10 precursor

    Status: REVIEWED

    Source sequence(s)
    AC008611, AC091926, AC091984
    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
    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
    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
    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 (3) summary
    TIGR00860
    Location:3332
    LIC; Cation transporter family protein
    cd03558
    Location:5064
    LGIC_ECD; Cys-loop [structural motif]
    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/Swiss-Prot
    P18507
    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
    P18507
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

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