GABBR2
entrez
9568
canonical
uniprot
O75899
canonical
ensembl
ENSG00000136928
resolver
ensp
ENSP00000259455
resolver
enst
ENST00000259455
resolver
genesymbol
GABBR2
resolver
genesymbol_syn
GPR51
resolver
genesymbol_syn
GPRC3B
resolver
hgnc
HGNC:4507
resolver
uniprot
H9NIL8
resolver
uniprot
O75974
resolver
uniprot
O75975
resolver
uniprot
Q5VXZ2
resolver
uniprot
Q8WX04
resolver
uniprot
Q9P1R2
resolver
uniprot
Q9UNR1
resolver
uniprot
Q9UNS9
resolver
uniprot_entry
GABR2_HUMAN
resolver
uniprot_entry
H9NIL8_HUMAN
resolver
uniprot_sec
O75974
resolver
uniprot_sec
O75975
resolver
uniprot_sec
Q5VXZ2
resolver
uniprot_sec
Q8WX04
resolver
uniprot_sec
Q9P1R2
resolver
uniprot_sec
Q9UNR1
resolver
uniprot_sec
Q9UNS9
resolver
amino_acid_sequence
MASPRSSGQPGPPPPPPPPPARLLLLLLLPLLLPLAPGAWGWARGAPRPPPSSPPLSIMGLMPLTKEVAKGSIGRGVLPAVELAIEQIRNESLLRPYFLDLRLYDTECDNAKGLKAFYDAIKYGPNHLMVFGGVCPSVTSIIAESLQGWNLVQLSFAATTPVLADKKKYPYFFRTVPSDNAVNPAILKLLKHYQWKRVGTLTQDVQRFSEVRNDLTGVLYGEDIEISDTESFSNDPCTSVKKLKGNDVRIILGQFDQNMAAKVFCCAYEENMYGSKYQWIIPGWYEPSWWEQVHTEANSSRCLRKNLLAAMEGYIGVDFEPLSSKQIKTISGKTPQQYEREYNNKRSGVGPSKFHGYAYDGIWVIAKTLQRAMETLHASSRHQRIQDFNYTDHTLGRIILNAMNETNFFGVTGQVVFRNGERMGTIKFTQFQDSREVKVGEYNAVADTLEIINDTIRFQGSEPPKDKTIILEQLRKISLPLYSILSALTILGMIMASAFLFFNIKNRNQKLIKMSSPYMNNLIILGGMLSYASIFLFGLDGSFVSEKTFETLCTVRTWILTVGYTTAFGAMFAKTWRVHAIFKNVKMKKKIIKDQKLLVIVGGMLLIDLCILICWQAVDPLRRTVEKYSMEPDPAGRDISIRPLLEHCENTHMTIWLGIVYAYKGLLMLFGCFLAWETRNVSIPALNDSKYIGMSVYNVGIMCIIGAAVSFLTRDQPNVQFCIVALVIIFCSTITLCLVFVPKLITLRTNPDAATQNRRFQFTQNQKKEDSKTSTSVTSVNQASTSRLEGLQSENHRLRMKITELDKDLEEVTMQLQDTPEKTTYIKQNHYQELNDILNLGNFTESTDGGKAILKNHLDQNPQLQWNTTEPSRTCKDPIEDINSPEHIQRRLSLQLPILHHAYLPSIGGVDASCVSPCVSPTASPRHRHVPPSFRVMVSGL
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with poor language and loss of hand skills (NDPLHS) [MIM:617903]: An autosomal dominant disorder characterized by psychomotor developmental stagnation or regression. NDPLHS manifest in the first years of life as loss of purposeful hand movements, loss of language, and intellectual disability. {ECO:0000269|PubMed:26740508, ECO:0000269|PubMed:28856709, ECO:0000269|PubMed:29369404}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Developmental and epileptic encephalopathy 59 (DEE59) [MIM:617904]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE59 is an autosomal dominant condition characterized by onset of refractory seizures in early infancy. {ECO:0000269|PubMed:28856709, ECO:0000269|PubMed:29100083, ECO:0000269|PubMed:29369404}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of a heterodimeric G protein-coupled receptor for GABA, formed by GABBR1 and GABBR2 (PubMed:15617512, PubMed:18165688, PubMed:22660477, PubMed:24305054, PubMed:9872316, PubMed:9872744). Within the heterodimeric GABA receptor, only GABBR1 seems to bind agonists, while GABBR2 mediates coupling to G proteins (PubMed:18165688). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase (PubMed:10075644, PubMed:10773016, PubMed:24305054). Signaling inhibits adenylate cyclase, stimulates phospholipase A2, activates potassium channels, inactivates voltage-dependent calcium-channels and modulates inositol phospholipid hydrolysis (PubMed:10075644, PubMed:10773016, PubMed:10906333, PubMed:9872744). Plays a critical role in the fine-tuning of inhibitory synaptic transmission (PubMed:22660477, PubMed:9872744). Pre-synaptic GABA receptor inhibits neurotransmitter release by down-regulating high-voltage activated calcium channels, whereas postsynaptic GABA receptor decreases neuronal excitability by activating a prominent inwardly rectifying potassium (Kir) conductance that underlies the late inhibitory postsynaptic potentials (PubMed:10075644, PubMed:22660477, PubMed:9872316, PubMed:9872744). Not only implicated in synaptic inhibition but also in hippocampal long-term potentiation, slow wave sleep, muscle relaxation and antinociception (Probable). {ECO:0000269|PubMed:10075644, ECO:0000269|PubMed:10328880, ECO:0000269|PubMed:15617512, ECO:0000269|PubMed:18165688, ECO:0000269|PubMed:22660477, ECO:0000269|PubMed:24305054, ECO:0000269|PubMed:9872316, ECO:0000269|PubMed:9872744, ECO:0000305}.
uniprot
proteins
mass_dalton
105821
uniprot
proteins
mutagenesis
MUTAGEN 118; /note="Y->A: Impairs interaction with GABBR1. Decreases signaling via G proteins."; /evidence="ECO:0000269|PubMed:22660477
uniprot
proteins
protein_family
G protein-coupled receptor 3 family
uniprot
proteins
protein_family
GABA-B receptor subfamily
uniprot
proteins
pubmed
10075644
uniprot
proteins
pubmed
10087195
uniprot
proteins
pubmed
10328880
uniprot
proteins
pubmed
10727622
uniprot
proteins
pubmed
10773016
uniprot
proteins
pubmed
10906333
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15617512
uniprot
proteins
pubmed
18165688
uniprot
proteins
pubmed
22660477
uniprot
proteins
pubmed
24305054
uniprot
proteins
pubmed
26740508
uniprot
proteins
pubmed
28856709
uniprot
proteins
pubmed
29100083
uniprot
proteins
pubmed
29369404
uniprot
proteins
pubmed
9872316
uniprot
proteins
pubmed
9872744
uniprot
proteins
sequence_length
941
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10328880, ECO:0000269|PubMed:15617512, ECO:0000269|PubMed:9872316}; Multi-pass membrane protein {ECO:0000305}. Postsynaptic cell membrane {ECO:0000250|UniProtKB:O88871}; Multi-pass membrane protein {ECO:0000305}. Note=Coexpression of GABBR1 and GABBR2 is required for GABBR1 maturation and transport to the plasma membrane. In contrast, GABBR2 does not depend on GABBR1 for transport to the cell membrane. {ECO:0000269|PubMed:15617512}.
uniprot
proteins
transmembrane_region
TRANSMEM 484..504; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 523..543; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 552..572; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 598..618; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 655..675; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 692..712; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 721..741; /note="Helical; Name=7"; /evidence="ECO:0000255
uniprot
proteins