JARID2
entrez
3720
canonical
uniprot
Q92833
canonical
ensembl
ENSG00000008083
resolver
ensp
ENSP00000341280
resolver
ensp
ENSP00000380478
resolver
ensp
ENSP00000694314
resolver
ensp
ENSP00000758916
resolver
ensp
ENSP00000758918
resolver
ensp
ENSP00000796782
resolver
genesymbol
JARID2
resolver
genesymbol_syn
JMJ
resolver
hgnc
HGNC:6196
resolver
uniprot
A8K9Z6
resolver
uniprot
B7Z5S5
resolver
uniprot
B7Z8L0
resolver
uniprot
Q5U5L5
resolver
uniprot
Q86X63
resolver
uniprot_entry
JARD2_HUMAN
resolver
uniprot_sec
A8K9Z6
resolver
uniprot_sec
B7Z5S5
resolver
uniprot_sec
B7Z8L0
resolver
uniprot_sec
Q5U5L5
resolver
uniprot_sec
Q86X63
resolver
amino_acid_sequence
MSKERPKRNIIQKKYDDSDGIPWSEERVVRKVLYLSLKEFKNSQKRQHAEGIAGSLKTVNGLLGNDQSKGLGPASEQSENEKDDASQVSSTSNDVSSSDFEEGPSRKRPRLQAQRKFAQSQPNSPSTTPVKIVEPLLPPPATQISDLSKRKPKTEDFLTFLCLRGSPALPNSMVYFGSSQDEEEVEEEDDETEDVKTATNNASSSCQSTPRKGKTHKHVHNGHVFNGSSRSTREKEPVQKHKSKEATPAKEKHSDHRADSRREQASANHPAAAPSTGSSAKGLAATHHHPPLHRSAQDLRKQVSKVNGVTRMSSLGAGVTSAKKMREVRPSPSKTVKYTATVTKGAVTYTKAKRELVKDTKPNHHKPSSAVNHTISGKTESSNAKTRKQVLSLGGASKSTGPAVNGLKVSGRLNPKSCTKEVGGRQLREGLQLREGLRNSKRRLEEAHQAEKPQSPPKKMKGAAGPAEGPGKKAPAERGLLNGHVKKEVPERSLERNRPKRATAGKSTPGRQAHGKADSASCENRSTSQPESVHKPQDSGKAEKGGGKAGWAAMDEIPVLRPSAKEFHDPLIYIESVRAQVEKFGMCRVIPPPDWRPECKLNDEMRFVTQIQHIHKLGRRWGPNVQRLACIKKHLKSQGITMDELPLIGGCELDLACFFRLINEMGGMQQVTDLKKWNKLADMLRIPRTAQDRLAKLQEAYCQYLLSYDSLSPEEHRRLEKEVLMEKEILEKRKGPLEGHTENDHHKFHPLPRFEPKNGLIHGVAPRNGFRSKLKEVGQAQLKTGRRRLFAQEKEVVKEEEEDKGVLNDFHKCIYKGRSVSLTTFYRTARNIMSMCFSKEPAPAEIEQEYWRLVEEKDCHVAVHCGKVDTNTHGSGFPVGKSEPFSRHGWNLTVLPNNTGSILRHLGAVPGVTIPWLNIGMVFSTSCWSRDQNHLPYIDYLHTGADCIWYCIPAEEENKLEDVVHTLLQANGTPGLQMLESNVMISPEVLCKEGIKVHRTVQQSGQFVVCFPGSFVSKVCCGYSVSETVHFATTQWTSMGFETAKEMKRRHIAKPFSMEKLLYQIAQAEAKKENGPTLSTISALLDELRDTELRQRRQLFEAGLHSSARYGSHDGSSTVADGKKKPRKWLQLETSERRCQICQHLCYLSMVVQENENVVFCLECALRHVEKQKSCRGLKLMYRYDEEQIISLVNQICGKVSGKNGSIENCLSKPTPKRGPRKRATVDVPPSRLSASSSSKSASSSS
uniprot
proteins
disease_involvement
DISEASE: Developmental delay with variable intellectual disability and dysmorphic facies (DIDDF) [MIM:620098]: An autosomal dominant disorder characterized by various degrees of developmental delay, mild to moderate intellectual disability, learning difficulties, hypotonia, autistic features, behavior abnormalities, and dysmorphic facial features apparent from infancy or early childhood. {ECO:0000269|PubMed:35887345}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Regulator of histone methyltransferase complexes that plays an essential role in embryonic development, including heart and liver development, neural tube fusion process and hematopoiesis (PubMed:20075857). Acts as an accessory subunit for the core PRC2 (Polycomb repressive complex 2) complex, which mediates histone H3K27 (H3K27me3) trimethylation on chromatin (PubMed:20075857, PubMed:29499137, PubMed:31959557). Binds DNA and mediates the recruitment of the PRC2 complex to target genes in embryonic stem cells, thereby playing a key role in stem cell differentiation and normal embryonic development (PubMed:20075857). In cardiac cells, it is required to repress expression of cyclin-D1 (CCND1) by activating methylation of 'Lys-9' of histone H3 (H3K9me) by the GLP1/EHMT1 and G9a/EHMT2 histone methyltransferases (By similarity). Also acts as a transcriptional repressor of ANF via its interaction with GATA4 and NKX2-5 (By similarity). Participates in the negative regulation of cell proliferation signaling (By similarity). Does not have histone demethylase activity (By similarity). {ECO:0000250|UniProtKB:Q62315, ECO:0000269|PubMed:20075857, ECO:0000269|PubMed:29499137, ECO:0000269|PubMed:31959557}.
uniprot
proteins
mass_dalton
138734
uniprot
proteins
mutagenesis
MUTAGEN 149..150; /note="KR->DE,AA: Abolishes nucleosome binding activity of a minimal SUZ12-RBBP4-AEBP2-JARID2 PRC2 complex."; /evidence="ECO:0000269|PubMed:29499137"; MUTAGEN 151..153; /note="KPK->EPE,APA: Abolishes nucleosome binding activity of a minimal SUZ12-RBBP4-AEBP2-JARID2 PRC2 complex."; /evidence="ECO:0000269|PubMed:29499137
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20075857
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
29499137
uniprot
proteins
pubmed
31959557
uniprot
proteins
pubmed
35887345
uniprot
proteins
pubmed
8894700
uniprot
proteins
sequence_length
1246
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00355, ECO:0000255|PROSITE-ProRule:PRU00537, ECO:0000269|PubMed:20075857, ECO:0000269|PubMed:29499137}. Note=Colocalizes with the PRC2 complex on chromatin. {ECO:0000269|PubMed:29499137}.
uniprot
proteins