RBL2
entrez
5934
canonical
uniprot
Q08999
canonical
ensembl
ENSG00000103479
resolver
ensp
ENSP00000262133
resolver
ensp
ENSP00000564846
resolver
genesymbol
RBL2
resolver
genesymbol_syn
RB2
resolver
hgnc
HGNC:9894
resolver
uniprot
B7Z913
resolver
uniprot
Q15073
resolver
uniprot
Q16084
resolver
uniprot
Q8NE70
resolver
uniprot
Q92812
resolver
uniprot_entry
RBL2_HUMAN
resolver
uniprot_sec
B7Z913
resolver
uniprot_sec
Q15073
resolver
uniprot_sec
Q16084
resolver
uniprot_sec
Q8NE70
resolver
uniprot_sec
Q92812
resolver
amino_acid_sequence
MPSGGDQSPPPPPPPPAAAASDEEEEDDGEAEDAAPPAESPTPQIQQRFDELCSRLNMDEAARAEAWDSYRSMSESYTLEGNDLHWLACALYVACRKSVPTVSKGTVEGNYVSLTRILKCSEQSLIEFFNKMKKWEDMANLPPHFRERTERLERNFTVSAVIFKKYEPIFQDIFKYPQEEQPRQQRGRKQRRQPCTVSEIFHFCWVLFIYAKGNFPMISDDLVNSYHLLLCALDLVYGNALQCSNRKELVNPNFKGLSEDFHAKDSKPSSDPPCIIEKLCSLHDGLVLEAKGIKEHFWKPYIRKLYEKKLLKGKEENLTGFLEPGNFGESFKAINKAYEEYVLSVGNLDERIFLGEDAEEEIGTLSRCLNAGSGTETAERVQMKNILQQHFDKSKALRISTPLTGVRYIKENSPCVTPVSTATHSLSRLHTMLTGLRNAPSEKLEQILRTCSRDPTQAIANRLKEMFEIYSQHFQPDEDFSNCAKEIASKHFRFAEMLYYKVLESVIEQEQKRLGDMDLSGILEQDAFHRSLLACCLEVVTFSYKPPGNFPFITEIFDVPLYHFYKVIEVFIRAEDGLCREVVKHLNQIEEQILDHLAWKPESPLWEKIRDNENRVPTCEEVMPPQNLERADEICIAGSPLTPRRVTEVRADTGGLGRSITSPTTLYDRYSSPPASTTRRRLFVENDSPSDGGTPGRMPPQPLVNAVPVQNVSGETVSVTPVPGQTLVTMATATVTANNGQTVTIPVQGIANENGGITFFPVQVNVGGQAQAVTGSIQPLSAQALAGSLSSQQVTGTTLQVPGQVAIQQISPGGQQQKQGQSVTSSSNRPRKTSSLSLFFRKVYHLAAVRLRDLCAKLDISDELRKKIWTCFEFSIIQCPELMMDRHLDQLLMCAIYVMAKVTKEDKSFQNIMRCYRTQPQARSQVYRSVLIKGKRKRRNSGSSDSRSHQNSPTELNKDRTSRDSSPVMRSSSTLPVPQPSSAPPTPTRLTGANSDMEEEERGDLIQFYNNIYIKQIKTFAMKYSQANMDAPPLSPYPFVRTGSPRRIQLSQNHPVYISPHKNETMLSPREKIFYYFSNSPSKRLREINSMIRTGETPTKKRGILLEDGSESPAKRICPENHSALLRRLQDVANDRGSH
uniprot
proteins
disease_involvement
DISEASE: Brunet-Wagner neurodevelopmental syndrome (BRUWAG) [MIM:619690]: An autosomal recessive disorder characterized by severe developmental delay, intellectual disability, poor or absent speech, infantile hypotonia, inability to walk, behavioral abnormalities, and dysmorphic features. {ECO:0000269|PubMed:32105419, ECO:0000269|PubMed:33980986}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Key regulator of entry into cell division. Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation. Recruits and targets histone methyltransferases KMT5B and KMT5C, leading to epigenetic transcriptional repression. Controls histone H4 'Lys-20' trimethylation. Probably acts as a transcription repressor by recruiting chromatin-modifying enzymes to promoters. Potent inhibitor of E2F-mediated trans-activation, associates preferentially with E2F5. Binds to cyclins A and E. Binds to and may be involved in the transforming capacity of the adenovirus E1A protein. May act as a tumor suppressor.
uniprot
proteins
mass_dalton
128367
uniprot
proteins
post_translational_modification
PTM: During G0 and early G1 phase of the cell cycle, phosphorylated on Ser-639 and on 5 sites within the domain B. Phosphorylation on Ser-672 in G1 leads to its ubiquitin-dependent proteolysis. {ECO:0000269|PubMed:11042701, ECO:0000269|PubMed:12435635}.
uniprot
proteins
protein_family
Retinoblastoma protein (RB) family
uniprot
proteins
pubmed
11042701
uniprot
proteins
pubmed
12435635
uniprot
proteins
pubmed
12450794
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
16600870
uniprot
proteins
pubmed
17671431
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20485545
uniprot
proteins
pubmed
22002537
uniprot
proteins
pubmed
23033978
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26237509
uniprot
proteins
pubmed
32105419
uniprot
proteins
pubmed
33980986
uniprot
proteins
pubmed
8253383
uniprot
proteins
pubmed
8253384
uniprot
proteins
pubmed
8361765
uniprot
proteins
pubmed
8643454
uniprot
proteins
sequence_length
1139
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins