| Tag | Content |
|---|---|
| Uniprot ID | Q92833; A8K9Z6; B7Z5S5; B7Z8L0; Q5U5L5; Q86X63; |
| Entrez ID | 3720 |
| Genbank protein ID | AAC50822.1; BAH13996.1; EAW55357.1; BAH13011.1; BAF85550.1; AAH46246.1; AAH46184.1; |
| Genbank nucleotide ID | NM_001267040.1; XM_017010835.1; XM_005249089.3; XM_017010834.1; NM_004973.3; |
| Ensembl protein ID | ENSP00000380478; ENSP00000341280; |
| Ensembl nucleotide ID | ENSG00000008083 |
| Gene name | Protein Jumonji |
| Gene symbol | JARID2 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | CPO,CL/P |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 20506229; 25155265; |
| Functional description | Regulator of histone methyltransferase complexes that plays an essential role in embryonic development, including heart and liver development, neural tube fusion process and hematopoiesis. Acts by modulating histone methyltransferase activity and promoting the recruitment of histone methyltransferase complexes to their target genes. Binds DNA and mediates the recruitment of the PRC2 complex to target genes in embryonic stem cells. Does not have histone demethylase activity but regulates activity of various histone methyltransferase complexes. In embryonic stem cells, it associates with the PRC2 complex and inhibits trimethylation of 'Lys-27' of histone H3 (H3K27me3) by the PRC2 complex, thereby playing a key role in differentiation of embryonic stem cells and normal development. 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. Also acts as a transcriptional repressor of ANF via its interaction with GATA4 and NKX2-5. Participates in the negative regulation of cell proliferation signaling. |
| Sequence | MSKERPKRNI IQKKYDDSDG IPWSEERVVR KVLYLSLKEF KNSQKRQHAE GIAGSLKTVN 60 GLLGNDQSKG LGPASEQSEN EKDDASQVSS TSNDVSSSDF EEGPSRKRPR LQAQRKFAQS 120 QPNSPSTTPV KIVEPLLPPP ATQISDLSKR KPKTEDFLTF LCLRGSPALP NSMVYFGSSQ 180 DEEEVEEEDD ETEDVKTATN NASSSCQSTP RKGKTHKHVH NGHVFNGSSR STREKEPVQK 240 HKSKEATPAK EKHSDHRADS RREQASANHP AAAPSTGSSA KGLAATHHHP PLHRSAQDLR 300 KQVSKVNGVT RMSSLGAGVT SAKKMREVRP SPSKTVKYTA TVTKGAVTYT KAKRELVKDT 360 KPNHHKPSSA VNHTISGKTE SSNAKTRKQV LSLGGASKST GPAVNGLKVS GRLNPKSCTK 420 EVGGRQLREG LQLREGLRNS KRRLEEAHQA EKPQSPPKKM KGAAGPAEGP GKKAPAERGL 480 LNGHVKKEVP ERSLERNRPK RATAGKSTPG RQAHGKADSA SCENRSTSQP ESVHKPQDSG 540 KAEKGGGKAG WAAMDEIPVL RPSAKEFHDP LIYIESVRAQ VEKFGMCRVI PPPDWRPECK 600 LNDEMRFVTQ IQHIHKLGRR WGPNVQRLAC IKKHLKSQGI TMDELPLIGG CELDLACFFR 660 LINEMGGMQQ VTDLKKWNKL ADMLRIPRTA QDRLAKLQEA YCQYLLSYDS LSPEEHRRLE 720 KEVLMEKEIL EKRKGPLEGH TENDHHKFHP LPRFEPKNGL IHGVAPRNGF RSKLKEVGQA 780 QLKTGRRRLF AQEKEVVKEE EEDKGVLNDF HKCIYKGRSV SLTTFYRTAR NIMSMCFSKE 840 PAPAEIEQEY WRLVEEKDCH VAVHCGKVDT NTHGSGFPVG KSEPFSRHGW NLTVLPNNTG 900 SILRHLGAVP GVTIPWLNIG MVFSTSCWSR DQNHLPYIDY LHTGADCIWY CIPAEEENKL 960 EDVVHTLLQA NGTPGLQMLE SNVMISPEVL CKEGIKVHRT VQQSGQFVVC FPGSFVSKVC 1020 CGYSVSETVH FATTQWTSMG FETAKEMKRR HIAKPFSMEK LLYQIAQAEA KKENGPTLST 1080 ISALLDELRD TELRQRRQLF EAGLHSSARY GSHDGSSTVA DGKKKPRKWL QLETSERRCQ 1140 ICQHLCYLSM VVQENENVVF CLECALRHVE KQKSCRGLKL MYRYDEEQII SLVNQICGKV 1200 SGKNGSIENC LSKPTPKRGP RKRATVDVPP SRLSASSSSK SASSSS 1246 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.