RHOBTB2
entrez
23221
canonical
uniprot
Q9BYZ6
canonical
ensembl
ENSG00000008853
resolver
ensp
ENSP00000251822
resolver
ensp
ENSP00000427926
resolver
ensp
ENSP00000429141
resolver
ensp
ENSP00000537477
resolver
genesymbol
RHOBTB2
resolver
genesymbol_syn
DBC2
resolver
genesymbol_syn
KIAA0717
resolver
hgnc
HGNC:18756
resolver
uniprot
A8K9Z8
resolver
uniprot
D3DSR8
resolver
uniprot
E9PBU2
resolver
uniprot
E9PEI7
resolver
uniprot
O94825
resolver
uniprot
Q8N4A8
resolver
uniprot
Q9BZK6
resolver
uniprot_entry
RHBT2_HUMAN
resolver
uniprot_sec
A8K9Z8
resolver
uniprot_sec
D3DSR8
resolver
uniprot_sec
E9PBU2
resolver
uniprot_sec
E9PEI7
resolver
uniprot_sec
O94825
resolver
uniprot_sec
Q8N4A8
resolver
uniprot_sec
Q9BZK6
resolver
amino_acid_sequence
MDSDMDYERPNVETIKCVVVGDNAVGKTRLICARACNATLTQYQLLATHVPTVWAIDQYRVCQEVLERSRDVVDDVSVSLRLWDTFGDHHKDRRFAYGRSDVVVLCFSIANPNSLHHVKTMWYPEIKHFCPRAPVILVGCQLDLRYADLEAVNRARRPLARPIKPNEILPPEKGREVAKELGIPYYETSVVAQFGIKDVFDNAIRAALISRRHLQFWKSHLRNVQRPLLQAPFLPPKPPPPIIVVPDPPSSSEECPAHLLEDPLCADVILVLQERVRIFAHKIYLSTSSSKFYDLFLMDLSEGELGGPSEPGGTHPEDHQGHSDQHHHHHHHHHGRDFLLRAASFDVCESVDEAGGSGPAGLRASTSDGILRGNGTGYLPGRGRVLSSWSRAFVSIQEEMAEDPLTYKSRLMVVVKMDSSIQPGPFRAVLKYLYTGELDENERDLMHIAHIAELLEVFDLRMMVANILNNEAFMNQEITKAFHVRRTNRVKECLAKGTFSDVTFILDDGTISAHKPLLISSCDWMAAMFGGPFVESSTREVVFPYTSKSCMRAVLEYLYTGMFTSSPDLDDMKLIILANRLCLPHLVALTEQYTVTGLMEATQMMVDIDGDVLVFLELAQFHCAYQLADWCLHHICTNYNNVCRKFPRDMKAMSPENQEYFEKHRWPPVWYLKEEDHYQRARKEREKEDYLHLKRQPKRRWLFWNSPSSPSSSAASSSSPSSSSAVV
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 64 (DEE64) [MIM:618004]: 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. DEE64 is an autosomal dominant form characterized by onset of seizures usually in the first year of life. Seizure types are variable and include focal dyscognitive and generalized tonic-clonic seizures, as well as febrile seizures in the mildest affected individuals. Seizures tend to respond to medical treatment. {ECO:0000269|PubMed:29276004, ECO:0000269|PubMed:29768694, ECO:0000269|PubMed:35315256, ECO:0000269|PubMed:37090824, ECO:0000269|PubMed:37165955, ECO:0000269|PubMed:39831600}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Biallelic variants in RHOBTB2 may be involved in autosomal recessive neurodevelopmental disorders. Affected individuals present with variable neurodevelopmental phenotypes, including intellectual disability and seizures. {ECO:0000269|PubMed:37165955}.
uniprot
proteins
ec_number
3.6.5.2
uniprot
proteins
function
FUNCTION: Regulator of cell proliferation and apoptosis (PubMed:21801820). It likely functions as a substrate-adapter that recruits key substrates, e.g. MSI2, to CUL3-based ubiquitin ligase complexes for degradation (PubMed:15107402, PubMed:27941885). Required for MSI2 ubiquitination and degradation (PubMed:27941885). {ECO:0000269|PubMed:15107402, ECO:0000269|PubMed:21801820, ECO:0000269|PubMed:27941885}.
uniprot
proteins
mass_dalton
82626
uniprot
proteins
mutagenesis
MUTAGEN 217; /note="W->C: No effect on interaction with CUL3. No effect on interaction with MSI2."; /evidence="ECO:0000269|PubMed:37165955"; MUTAGEN 219; /note="S->Y: No effect on interaction with CUL3. No effect on interaction with MSI2."; /evidence="ECO:0000269|PubMed:37165955"; MUTAGEN 284; /note="Y->D: Results in severely decreased interaction with CUL3. No effect on interaction with MSI2."; /evidence="ECO:0000269|PubMed:15107402, ECO:0000269|PubMed:27941885, ECO:0000269|PubMed:29768694, ECO:0000269|PubMed:37165955"; MUTAGEN 449; /note="A->C: No effect on interaction with CUL3. No effect on interaction with MSI2."; /evidence="ECO:0000269|PubMed:37165955
uniprot
proteins
post_translational_modification
PTM: Autoubiquitinated by RHOBTB2-CUL3-RBX1 ubiquitin ligase complex. {ECO:0000269|PubMed:15107402}.
uniprot
proteins
protein_family
Rho family
uniprot
proteins
protein_family
Small GTPase superfamily
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
12426103
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15107402
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
21801820
uniprot
proteins
pubmed
26517842
uniprot
proteins
pubmed
26740508
uniprot
proteins
pubmed
27941885
uniprot
proteins
pubmed
29276004
uniprot
proteins
pubmed
29768694
uniprot
proteins
pubmed
35315256
uniprot
proteins
pubmed
37090824
uniprot
proteins
pubmed
37165955
uniprot
proteins
pubmed
39831600
uniprot
proteins
pubmed
9872452
uniprot
proteins
sequence_length
727
uniprot
proteins