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Gamma-aminobutyric acid receptor subunit gamma-2

Summary

UniProt ID: P18507
Gene Symbol: GABRG2
Gene ID: 2566
Organism: Homo sapiens (human)

External Links

GlyGen: P18507
PubChem: P18507
The Human Metabolome Database: HMDBP02260
Re-Glyco: P18507

Annotation

Keyword: 3D-structure Alternative splicing Cell membrane Cell projection Chloride channel Cytoplasmic vesicle Disease variant Disulfide bond Epilepsy Glycoprotein Palmitate Postsynaptic cell membrane Proteomics identification Reference proteome Signal Transmembrane helix

Gene Ontology (GO)

Displaying entries **1 - 5** of 19 in total

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GO Term	Evidence Code	Reference
gamma-aminobutyric acid signaling pathway	NAS	PMID PMID
gamma-aminobutyric acid signaling pathway	TAS	PMID
gamma-aminobutyric acid signaling pathway	IDA	PMID PMID
gamma-aminobutyric acid signaling pathway	IEA	GO_REF
post-embryonic development

GO Hierarchy

biological process

cellular process [inference]

cell communication [inference]

cell-cell signaling [inference]

gamma-aminobutyric acid signaling pathway

synaptic signaling [inference]

trans-synaptic signaling [inference]

anterograde trans-synaptic signaling [inference]

chemical synaptic transmission [inference]

synaptic transmission, GABAergic

cellular response to stimulus [inference]

cellular response to chemical stimulus [inference]

cellular response to nitrogen compound [inference]

cellular response to histamine

transmembrane transport [inference]

monoatomic ion transmembrane transport [inference]

monoatomic anion transmembrane transport [inference]

chloride transmembrane transport

cellular component organization or biogenesis [inference]

cellular component organization [inference]

cellular component assembly [inference]

cell junction assembly [inference]

synapse assembly [inference]

inhibitory synapse assembly

cell junction organization [inference]

cell junction assembly [inference]

synapse assembly [inference]

inhibitory synapse assembly

synapse organization [inference]

synapse assembly [inference]

inhibitory synapse assembly

multicellular organismal process [inference]

behavior [inference]

adult behavior

post-embryonic development

response to stimulus [inference]

response to chemical [inference]

cellular response to chemical stimulus [inference]

cellular response to nitrogen compound [inference]

cellular response to histamine

response to nitrogen compound [inference]

response to histamine [inference]

cellular response to histamine

cellular response to nitrogen compound [inference]

cellular response to histamine

cellular response to stimulus [inference]

cellular response to chemical stimulus [inference]

cellular response to nitrogen compound [inference]

cellular response to histamine

localization [inference]

establishment of localization [inference]

transport [inference]

monoatomic ion transport [inference]

monoatomic anion transport [inference]

chloride transport [inference]

chloride transmembrane transport

monoatomic anion transmembrane transport [inference]

chloride transmembrane transport

monoatomic ion transmembrane transport [inference]

monoatomic anion transmembrane transport [inference]

chloride transmembrane transport

inorganic anion transport [inference]

chloride transport [inference]

chloride transmembrane transport

transmembrane transport [inference]

monoatomic ion transmembrane transport [inference]

monoatomic anion transmembrane transport [inference]

chloride transmembrane transport

biological regulation [inference]

regulation of biological process [inference]

signaling [inference]

cell-cell signaling [inference]

gamma-aminobutyric acid signaling pathway

synaptic signaling [inference]

trans-synaptic signaling [inference]

anterograde trans-synaptic signaling [inference]

chemical synaptic transmission [inference]

synaptic transmission, GABAergic

Displaying entries **1 - 5** of 22 in total

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GO Term	Evidence Code	Reference
plasma membrane	ISS	GO_REF
plasma membrane	EXP	PMID
plasma membrane	TAS	PMID Reactome
plasma membrane	IBA	GO_REF
plasma membrane	IEA	GO_REF GO_REF

GO Hierarchy

cellular component

protein-containing complex [inference]

signaling receptor complex [inference]

GABA receptor complex [inference]

GABA-A receptor complex

membrane protein complex [inference]

transmembrane transporter complex [inference]

monoatomic ion channel complex [inference]

chloride channel complex

transporter complex [inference]

transmembrane transporter complex [inference]

monoatomic ion channel complex [inference]

chloride channel complex

cellular anatomical structure [inference]

membrane [inference]

plasma membrane

organelle membrane [inference]

vesicle membrane [inference]

cytoplasmic vesicle membrane

plasma membrane region [inference]

cell projection membrane [inference]

neuron projection membrane [inference]

dendrite membrane

synaptic membrane [inference]

cell junction [inference]

synapse [inference]

GABA-ergic synapse

leading edge membrane [inference]

neuron projection membrane [inference]

dendrite membrane

cell projection [inference]

plasma membrane bounded cell projection [inference]

neuron projection [inference]

axon

neuron spine [inference]

dendritic spine

postsynapse

dendritic spine

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GO Term	Evidence Code	Reference
GABA-A receptor activity	ISS	GO_REF
GABA-A receptor activity	IDA	PMID PMID
GABA-A receptor activity	IEA	GO_REF GO_REF
chloride channel activity	ISS	GO_REF
chloride channel activity	IEA	GO_REF

GO Hierarchy

molecular function

transporter activity [inference]

transmembrane transporter activity [inference]

monoatomic ion transmembrane transporter activity [inference]

monoatomic ion channel activity [inference]

monoatomic anion channel activity [inference]

chloride channel activity

GABA-gated chloride ion channel activity

ligand-gated monoatomic anion channel activity [inference]

GABA-gated chloride ion channel activity

ligand-gated monoatomic ion channel activity [inference]

extracellular ligand-gated monoatomic ion channel activity [inference]

transmitter-gated monoatomic ion channel activity [inference]

ligand-gated monoatomic anion channel activity [inference]

GABA-gated chloride ion channel activity

monoatomic anion transmembrane transporter activity [inference]

monoatomic anion channel activity [inference]

chloride channel activity

GABA-gated chloride ion channel activity

ligand-gated monoatomic anion channel activity [inference]

GABA-gated chloride ion channel activity

chloride transmembrane transporter activity [inference]

chloride channel activity

GABA-gated chloride ion channel activity

passive transmembrane transporter activity [inference]

channel activity [inference]

monoatomic ion channel activity [inference]

monoatomic anion channel activity [inference]

chloride channel activity

GABA-gated chloride ion channel activity

ligand-gated monoatomic anion channel activity [inference]

GABA-gated chloride ion channel activity

ligand-gated monoatomic ion channel activity [inference]

extracellular ligand-gated monoatomic ion channel activity [inference]

transmitter-gated monoatomic ion channel activity [inference]

ligand-gated monoatomic anion channel activity [inference]

GABA-gated chloride ion channel activity

gated channel activity [inference]

ligand-gated channel activity [inference]

ligand-gated monoatomic ion channel activity [inference]

extracellular ligand-gated monoatomic ion channel activity [inference]

transmitter-gated monoatomic ion channel activity [inference]

ligand-gated monoatomic anion channel activity [inference]

GABA-gated chloride ion channel activity

transmitter-gated channel activity [inference]

transmitter-gated monoatomic ion channel activity [inference]

molecular transducer activity [inference]

signaling receptor activity [inference]

transmembrane signaling receptor activity [inference]

GABA receptor activity [inference]

GABA-A receptor activity

neurotransmitter receptor activity [inference]

benzodiazepine receptor activity

transmitter-gated channel activity [inference]

transmitter-gated monoatomic ion channel activity [inference]

Gene Ontology information from UniProt.

Annotation information from UniProt.

Sequence

MSSPNIWSTGSSVYSTPVFSQKMTVWILLLLSLYPGFTSQKSDDDYEDYASNKTWVLTPKVPEGDVTVILNNLLEGYDNKLRPDIGVKPTLIHTDMYVNSIGPVNAINMEYTIDIFFAQTWYDRRLKFNSTIKVLRLNSNMVGKIWIPDTFFRNSKKADAHWITTPNRMLRIWNDGRVLYTLRLTIDAECQLQLHNFPMDEHSCPLEFSSYGYPREEIVYQWKRSSVEVGDTRSWRLYQFSFVGLRNTTEVVKTTSGDYVVMSVYFDLSRRMGYFTIQTYIPCTLIVVLSWVSFWINKDAVPARTSLGITTVLTMTTLSTIARKSLPKVSYVTAMDLFVSVCFIFVFSALVEYGTLHYFVSNRKPSKDKDKKKKNPLLRMFSFKAPTIDIRPRSATIQMNNATHLQERDEEYGYECLDGKDCASFFCCFEDCRTGAWRHGRIHIRIAKMDSYARIFFPTAFCLFNLVYWVSYLYL

N : N-glycosylation Site
___ : Potential Sequon

Glycosylation Sites

Displaying **all 3** entries
Position	Description	PubMed ID	Source
52	N-linked (GlcNAc...) asparagine		UniProt GlyGen
129	N-linked (GlcNAc...) asparagine		UniProt GlyGen
247	N-linked (GlcNAc...) asparagine	29950725 30602789	UniProt GlyGen

Feature

: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt

Pathway

Displaying **all 2** entries
Pathway Name	Organism
GABA receptor activation	Homo sapiens
Signaling by ERBB4	Homo sapiens

Disease

Displaying **all 7** entries
DO ID	Disease Name	Source
DOID:670	amphetamine abuse	Alliance of Genome Resources
DOID:0112210	developmental and epileptic encephalopathy 74	Alliance of Genome Resources
DOID:0111298	familial febrile seizures 8	Alliance of Genome Resources
DOID:9976	heroin dependence	Alliance of Genome Resources
DOID:14018	alcoholic liver cirrhosis	Alliance of Genome Resources
DOID:0050741	alcohol dependence	Alliance of Genome Resources
DOID:1825	childhood absence epilepsy	Alliance of Genome Resources

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International Collaboration

Acknowledgements