LMBRD2
entrez
92255
canonical
uniprot
Q68DH5
canonical
ensembl
ENSG00000164187
resolver
ensp
ENSP00000296603
resolver
ensp
ENSP00000555545
resolver
ensp
ENSP00000555546
resolver
ensp
ENSP00000625955
resolver
enst
ENST00000296603
resolver
enst
ENST00000885486
resolver
enst
ENST00000885487
resolver
genesymbol
LMBRD2
resolver
hgnc
HGNC:25287
resolver
uniprot
B3KRB6
resolver
uniprot
Q9NTC7
resolver
uniprot_entry
LMBD2_HUMAN
resolver
uniprot_sec
B3KRB6
resolver
uniprot_sec
Q9NTC7
resolver
amino_acid_sequence
MSGAALGLEIVFVFFLALFLLHRYGDFKKQHRLVIIGTLLAWYLCFLIVFILPLDVSTTIYNRCKHAAANSSPPENSNITGLYATANPVPSQHPCFKPWSYIPDGIMPIFWRVVYWTSQFLTWILLPFMQSYARSGGFSITGKIKTALIENAIYYGTYLLIFGAFLIYVAVNPHLHLEWNQLQTIGIAAANTWGLFLLVLLLGYGLVEIPRSYWNGAKRGYLLMKTYFKAAKLMTEKADAEENLEDAMEEVRKVNESIKYNHPLRKCVDTILKKCPTEYQEKMGRNMDDYEDFDEKHSIYPSEKSLVKLHKQVIYSVQRHRRTQVQWQILLEQAFYLEDVAKNETSATHQFVHTFQSPEPENRFIQYFYNPTFEWYWECLLRPWFYKILAVVLSIFSVIVVWSECTFFSTTPVLSLFAVFIQLAEKTYNYIYIEIACFLSIFFLSICVYSTVFRIRVFNYYYLASHHQTDAYSLLFSGMLFCRLTPPLCLNFLGLTHMDSSISHKNTQPTAYTSIMGSMKVLSFIADGFYIYYPMLVVILCIATYFSLGTRCLNLLGFQQFMGDDDMTSDLVNEGKELIRKEKRKRQRQEEGENRRREWKERYGHNREDSTRNRNIHTDPKESNFSDVNTNRSAFKYTRANNRTERDRIELLQDAEPLDFNAETFTDDPLESESGRYQPGGRYLSMSRSDIFNDV
uniprot
proteins
disease_involvement
DISEASE: Developmental delay with variable neurologic and brain abnormalities (DENBA) [MIM:619694]: An autosomal dominant disorder characterized by onset of motor and speech delay in early childhood. Disease severity and clinical manifestations are highly variable. Most patients have delayed walking and variably impaired intellectual development. Additional features may include seizures, spasticity, and ocular abnormalities. Brain imaging often shows thin corpus callosum and may show white matter atrophy, myelination abnormalities, or enlarged ventricles. {ECO:0000269|PubMed:32820033}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Recruited to ligand-activated beta-2 adrenergic receptor/ADRB2, it negatively regulates the adrenergic receptor signaling pathway (PubMed:28388415). May also regulate other G protein coupled receptors including type-1 angiotensin II receptor/AGTR1 (Probable). {ECO:0000269|PubMed:28388415, ECO:0000305|PubMed:28388415}.
uniprot
proteins
mass_dalton
81172
uniprot
proteins
protein_family
LIMR family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
28388415
uniprot
proteins
pubmed
32820033
uniprot
proteins
sequence_length
695
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305|PubMed:28388415}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 6..21; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 33..53; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 106..126; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 151..171; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 187..207; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 388..408; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 433..453; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 474..494; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 522..542; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins