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Protein Page:
GABRG2 (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitination
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

Overview
GABRG2 GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. Defects in GABRG2 are the cause of childhood absence epilepsy type 2 (ECA2). ECA2 is a subtype of idiopathic generalized epilepsy (IGE) characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. During adolescence, tonic-clonic and myoclonic seizures develop. Some individuals manifest ECA2 occurring in combination with febrile convulsions. Defects in GABRG2 are the cause of familial febrile convulsions type 8 (FEB8). A febrile convulsion is defined as a seizure event in infancy or childhood, usually occurring between 6 months and 6 years of age, associated with fever but without any evidence of intracranial infection or defined pathologic or traumatic cause. Febrile convulsions affect 5-12% of infants and children up to 6 years of age. There is epidemiological evidence that febrile seizures are associated with subsequent afebrile and unprovoked seizures in 2% to 7% of patients. Defects in GABRG2 are the cause of generalized epilepsy with febrile seizures plus type 3 (GEFS+3). Generalized epilepsy with febrile seizures-plus refers to a rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. GEFS+ is a disease combining febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. Defects in GABRG2 are a cause of severe myoclonic epilepsy in infancy (SMEI); also called Dravet syndrome. SMEI is a rare disorder characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life. Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex partial seizures. Psychomotor development delay is observed around the second year of life. SMEI is considered to be the most severe phenotype within the spectrum of generalized epilepsies with febrile seizures-plus. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRG2 sub-subfamily. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, multi-pass; Transporter; Channel, chloride; Transporter, ion channel; Channel, ligand-gated; Membrane protein, integral
Cellular Component: postsynaptic membrane; axon; integral to plasma membrane; cytoplasm; plasma membrane; cell junction
Molecular Function: protein binding; chloride channel activity; GABA-A receptor activity; benzodiazepine receptor activity; extracellular ligand-gated ion channel activity
Biological Process: synaptic transmission; transport; adult behavior; synaptic transmission, GABAergic; transmembrane transport; gamma-aminobutyric acid signaling pathway; post-embryonic development
Reference #:  P18507 (UniProtKB)
Alt. Names/Synonyms: CAE2; ECA2; GABA(A) receptor subunit gamma-2; GABRG2; gamma-aminobutyric acid (GABA) A receptor, gamma 2; gamma-aminobutyric acid A receptor, gamma 2; Gamma-aminobutyric acid receptor subunit gamma-2; GBRG2; GEFSP3
Gene Symbols: GABRG2
Molecular weight: 54,162 Da
Basal Isoelectric point: 8.72  Predict pI for various phosphorylation states
Select Structure to View Below

GABRG2

Protein Structure Not Found.


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Modification Sites and Domains Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

► Hide Isoforms
 
0 1 S42-p PGFTSQKsDDDyEDy
0 1 Y46-p SQKsDDDyEDyASNK
0 1 Y49-p sDDDyEDyASNKTWV
0 1 Y213 LEFSSYGYPREEIVY
0 1 S234-p VEVGDTRsWRLyQFS
0 1 Y238-p DTRsWRLyQFSFVGL
1 0 K364 HYFVSNRKPSKDKDK
3 0 S366 FVSNRKPSKDKDKKK
1 0 K367 VSNRKPSKDKDKKKK
1 0 K369 NRKPSKDKDKKKKNP
1 0 K371 KPSKDKDKKKKNPAP
1 0 K372 PSKDKDKKKKNPAPT
1 0 K373 SKDKDKKKKNPAPTI
1 0 K374 KDKDKKKKNPAPTID
3 5 - gap
2 0 S386 TIDIRPRSATIQMNN
2 0 T388 DIRPRSATIQMNNAT
7 0 Y404 LQERDEEYGYECLDG
7 0 Y406 ERDEEYGYECLDGKD
0 1 Y444-p RIAKMDSyARIFFPT
  GABRG2 iso3  
S42 PGFTSQKSDDDYEDY
Y46 SQKSDDDYEDYASNK
Y49 SDDDYEDYASNKTWV
Y253-p VAGISDGyPREEIVY
S274 VEVGDTRSWRLYQFS
Y278 DTRSWRLYQFSFVGL
K404 HYFVSNRKPSKDKDK
S406 FVSNRKPSKDKDKKK
K407 VSNRKPSKDKDKKKK
K409 NRKPSKDKDKKKKNP
K411 KPSKDKDKKKKNPLL
K412 PSKDKDKKKKNPLLR
K413 SKDKDKKKKNPLLRM
K414 KDKDKKKKNPLLRMF
S422 NPLLRMFSFKAPTID
S434 TIDIRPRSATIQMNN
T436 DIRPRSATIQMNNAT
Y452 LQERDEEYGYECLDG
Y454 ERDEEYGYECLDGKD
Y492 RIAKMDSYARIFFPT
  mouse

► Hide Isoforms
 
S41 PGFTSQKSDDDYEDY
Y45 SQKSDDDYEDYASNK
Y48 SDDDYEDYASNKTWV
Y212 LEFSSYGYPREEIVY
S233 VEVGDTRSWRLYQFS
Y237 DTRSWRLYQFSFVGL
K363-ub HYFVSNRkPskDkDk
S365-p FVSNRkPskDkDkkk
K366-ub VSNRkPskDkDkkkk
K368-ub NRkPskDkDkkkkNP
K370-ub kPskDkDkkkkNPLL
K371-ub PskDkDkkkkNPLLR
K372-ub skDkDkkkkNPLLRM
K373-ub kDkDkkkkNPLLRMF
S381-p NPLLRMFsFKAPTID
S393-p TIDIRPRsAtIQMNN
T395-p DIRPRsAtIQMNNAT
Y411-p LQERDEEyGyECLDG
Y413-p ERDEEyGyECLDGKD
Y451 RIAKMDSYARIFFPT
  GABRG2 iso2  
S41 PGFTSQKSDDDYEDY
Y45 SQKSDDDYEDYASNK
Y48 SDDDYEDYASNKTWV
Y212 LEFSSYGYPREEIVY
S233 VEVGDTRSWRLYQFS
Y237 DTRSWRLYQFSFVGL
K363 HYFVSNRKPsKDKDK
S365-p FVSNRKPsKDKDKKK
K366 VSNRKPsKDKDKKKK
K368 NRKPsKDKDKKKKNP
K370 KPsKDKDKKKKNPAP
K371 PsKDKDKKKKNPAPT
K372 sKDKDKKKKNPAPTI
K373 KDKDKKKKNPAPTID
- gap
S385-p TIDIRPRsAtIQMNN
T387-p DIRPRsAtIQMNNAT
Y403-p LQERDEEyGyECLDG
Y405-p ERDEEyGyECLDGKD
Y443 RIAKMDSYARIFFPT
  rat

► Hide Isoforms
 
S41 PGFTSQKSDDDYEDY
Y45 SQKSDDDYEDYASNK
Y48 SDDDYEDYASNKTWV
Y212 LEFSSYGYPREEIVY
S233 VEVGDTRSWRLYQFS
Y237 DTRSWRLYQFSFVGL
K363 HYFVSNRKPsKDKDK
S365-p FVSNRKPsKDKDKKK
K366 VSNRKPsKDKDKKKK
K368 NRKPsKDKDKKKKNP
K370 KPsKDKDKKKKNPLL
K371 PsKDKDKKKKNPLLR
K372 sKDKDKKKKNPLLRM
K373 KDKDKKKKNPLLRMF
S381-p NPLLRMFsFKAPTID
S393 TIDIRPRSATIQMNN
T395 DIRPRSATIQMNNAT
Y411-p LQERDEEyGyECLDG
Y413-p ERDEEyGyECLDGKD
Y451 RIAKMDSYARIFFPT
  GABRG2 iso2  
S41 PGFTSQKSDDDYEDY
Y45 SQKSDDDYEDYASNK
Y48 SDDDYEDYASNKTWV
Y212 LEFSSYGYPREEIVY
S233 VEVGDTRSWRLYQFS
Y237 DTRSWRLYQFSFVGL
K363 HYFVSNRKPSKDKDK
S365 FVSNRKPSKDKDKKK
K366 VSNRKPSKDKDKKKK
K368 NRKPSKDKDKKKKNP
K370 KPSKDKDKKKKNPAP
K371 PSKDKDKKKKNPAPT
K372 SKDKDKKKKNPAPTI
K373 KDKDKKKKNPAPTID
- gap
S385 TIDIRPRSATIQMNN
T387 DIRPRSATIQMNNAT
Y403 LQERDEEYGYECLDG
Y405 ERDEEYGYECLDGKD
Y443 RIAKMDSYARIFFPT
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