PCGF2
entrez
7703
canonical
uniprot
P35227
canonical
ensembl
ENSG00000277258
resolver
ensembl
ENSG00000278644
resolver
ensp
ENSP00000478517
resolver
ensp
ENSP00000478970
resolver
ensp
ENSP00000482063
resolver
ensp
ENSP00000482815
resolver
ensp
ENSP00000488868
resolver
ensp
ENSP00000488872
resolver
ensp
ENSP00000564260
resolver
ensp
ENSP00000564261
resolver
ensp
ENSP00000564262
resolver
ensp
ENSP00000564263
resolver
ensp
ENSP00000564264
resolver
ensp
ENSP00000564265
resolver
ensp
ENSP00000564266
resolver
ensp
ENSP00000609073
resolver
ensp
ENSP00000609074
resolver
ensp
ENSP00000609075
resolver
ensp
ENSP00000609076
resolver
enst
ENST00000610440
resolver
enst
ENST00000611883
resolver
enst
ENST00000616199
resolver
enst
ENST00000620225
resolver
enst
ENST00000631566
resolver
enst
ENST00000631610
resolver
enst
ENST00000894201
resolver
enst
ENST00000894202
resolver
enst
ENST00000894203
resolver
enst
ENST00000894204
resolver
enst
ENST00000894205
resolver
enst
ENST00000894206
resolver
enst
ENST00000894207
resolver
enst
ENST00000939014
resolver
enst
ENST00000939015
resolver
enst
ENST00000939016
resolver
enst
ENST00000939017
resolver
genesymbol
PCGF2
resolver
genesymbol_syn
MEL18
resolver
genesymbol_syn
RNF110
resolver
genesymbol_syn
ZNF144
resolver
hgnc
HGNC:12929
resolver
uniprot
A6NGD8
resolver
uniprot_entry
PCGF2_HUMAN
resolver
uniprot_sec
A6NGD8
resolver
amino_acid_sequence
MHRTTRIKITELNPHLMCALCGGYFIDATTIVECLHSFCKTCIVRYLETNKYCPMCDVQVHKTRPLLSIRSDKTLQDIVYKLVPGLFKDEMKRRRDFYAAYPLTEVPNGSNEDRGEVLEQEKGALSDDEIVSLSIEFYEGARDRDEKKGPLENGDGDKEKTGVRFLRCPAAMTVMHLAKFLRNKMDVPSKYKVEVLYEDEPLKEYYTLMDIAYIYPWRRNGPLPLKYRVQPACKRLTLATVPTPSEGTNTSGASECESVSDKAPSPATLPATSSSLPSPATPSHGSPSSHGPPATHPTSPTPPSTASGATTAANGGSLNCLQTPSSTSRGRKMTVNGAPVPPLT
uniprot
proteins
disease_involvement
DISEASE: Turnpenny-Fry syndrome (TPFS) [MIM:618371]: A syndrome characterized by facial dysmorphism, intellectual disability, feeding problems, impaired growth, and a range of brain, cardiovascular, and skeletal abnormalities. Craniofacial features include frontal bossing, sparse hair, malar hypoplasia, small palpebral fissures and oral stoma, and dysplastic ears. {ECO:0000269|PubMed:30343942}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional repressor. Binds specifically to the DNA sequence 5'-GACTNGACT-3'. Has tumor suppressor activity. May play a role in control of cell proliferation and/or neural cell development. Regulates proliferation of early T progenitor cells by maintaining expression of HES1. Also plays a role in antero-posterior specification of the axial skeleton and negative regulation of the self-renewal activity of hematopoietic stem cells (By similarity). Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:26151332). Within the PRC1-like complex, regulates RNF2 ubiquitin ligase activity (PubMed:26151332). {ECO:0000250|UniProtKB:P23798, ECO:0000269|PubMed:26151332}.
uniprot
proteins
mass_dalton
37788
uniprot
proteins
post_translational_modification
PTM: Phosphorylated. Homodimer formation is regulated by phosphorylation with only unphosphorylated proteins forming homodimers. {ECO:0000250|UniProtKB:P23798}.
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19636380
uniprot
proteins
pubmed
21282530
uniprot
proteins
pubmed
26151332
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
30343942
uniprot
proteins
pubmed
8325509
uniprot
proteins
sequence_length
344
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21282530}.
uniprot
proteins