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

Gene ID: 2566, updated on 3-Jun-2018
Official Symbol
GABRG2provided by HGNC
Official Full Name
gamma-aminobutyric acid type A receptor gamma2 subunitprovided by HGNC
Primary source
HGNC:HGNC:4087
See related
Ensembl:ENSG00000113327 MIM:137164; Vega:OTTHUMG00000130350
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; 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
See GABRG2 in Genome Data Viewer
Location:
5q34
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (162067642..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 alpha1 subunit Neighboring gene long intergenic non-protein coding RNA 1202 Neighboring gene RNA, U6 small nuclear 164, pseudogene Neighboring gene uncharacterized LOC105377697

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

  • GABA A receptor activation, organism-specific biosystem (from REACTOME)
    GABA A receptor activation, organism-specific biosystemGABA B receptors are G protein coupled receptors that are activated by GABA binding to the B1 subunit and B2 subunit alters the activity of adenylate cyclase by interacting with the G alpha i/alpha 0...
  • GABA receptor activation, organism-specific biosystem (from REACTOME)
    GABA receptor activation, organism-specific biosystemGamma aminobutyric acid (GABA) receptors are the major inhibitory receptors in human synapses. They are of two types. GABA A receptors are fast-acting ligand gated chloride ion channels that mediate ...
  • GABAergic synapse, organism-specific biosystem (from KEGG)
    GABAergic synapse, organism-specific biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
  • GABAergic synapse, conserved biosystem (from KEGG)
    GABAergic synapse, conserved biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
  • Ion channel transport, organism-specific biosystem (from REACTOME)
    Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
  • Ligand-gated ion channel transport, organism-specific biosystem (from REACTOME)
    Ligand-gated ion channel transport, organism-specific biosystemLigand-gated ion channels (LGICs) are a group of transmembrane ion channels that are opened or closed in response to the binding of a chemical messenger (Purves, 2001).
  • Morphine addiction, organism-specific biosystem (from KEGG)
    Morphine addiction, organism-specific biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
  • Morphine addiction, conserved biosystem (from KEGG)
    Morphine addiction, conserved biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
  • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, organism-specific biosystem
    Neuroactive ligand-receptor interaction
  • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, conserved biosystem
    Neuroactive ligand-receptor interaction
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystem (from REACTOME)
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystemThe neurotransmitter in the synaptic cleft released by the pre-synaptic neuron binds specific receptors located on the post-synaptic terminal. These receptors are either ion channels or G protein cou...
  • Nicotine addiction, organism-specific biosystem (from KEGG)
    Nicotine addiction, organism-specific biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
  • Nicotine addiction, conserved biosystem (from KEGG)
    Nicotine addiction, conserved biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
  • Retrograde endocannabinoid signaling, organism-specific biosystem (from KEGG)
    Retrograde endocannabinoid signaling, organism-specific biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
  • Retrograde endocannabinoid signaling, conserved biosystem (from KEGG)
    Retrograde endocannabinoid signaling, conserved biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
  • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
    Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
Products Interactant Other Gene Complex Source Pubs Description

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
 
GABA-gated chloride ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
CONTRIBUTES_TO benzodiazepine receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
benzodiazepine receptor activity TAS
Traceable Author Statement
more info
PubMed 
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
 
CONTRIBUTES_TO extracellular ligand-gated ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular ligand-gated ion channel activity IEA
Inferred from Electronic Annotation
more info
 
inhibitory extracellular ligand-gated ion channel 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 
gamma-aminobutyric acid signaling pathway IEA
Inferred from Electronic Annotation
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 
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
 
axon IEA
Inferred from Electronic Annotation
more info
 
cell junction 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 
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

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
    ENSP00000491909.1, OTTHUMP00000160874, ENST00000639213.1, OTTHUMT00000252706
    Conserved Domains (1) summary
    cl27321
    Location:69464
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
  2. 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, OTTHUMP00000224398, ENST00000414552.6, OTTHUMT00000374407
    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
  3. NM_198904.2NP_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)
    AC091984, BC052926, BC059389, DA226729
    Consensus CDS
    CCDS4359.1
    UniProtKB/Swiss-Prot
    P18507
    Related
    ENSP00000492125.1, OTTHUMP00000160873, ENST00000639111.1, OTTHUMT00000252705
    Conserved Domains (1) summary
    cl27321
    Location:69472
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    162067642..162155539
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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