| Tag | Content |
|---|---|
| Uniprot ID | Q8BVE8; B3VCH6; Q6ZPY1; Q7TSF5; Q811F0; |
| Entrez ID | 107823 |
| Genbank protein ID | BAC98097.1; ACE75882.1; BAC37342.1; AAH53454.1; AAH46473.1; |
| Genbank nucleotide ID | XM_017320590.1; XM_006503659.3; XM_006503660.3; XM_006503658.3; NM_175231.2; NM_001081102.2; |
| Ensembl protein ID | ENSMUSP00000058940; ENSMUSP00000067205; ENSMUSP00000075210; |
| Ensembl nucleotide ID | ENSMUSG00000057406 |
| Gene name | Histone-lysine N-methyltransferase NSD2 |
| Gene symbol | Nsd2 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | E13.5 |
| Data sources | Manually collected |
| Reference | 19483677 |
| Functional description | Histone methyltransferase with histone H3 'Lys-27' (H3K27me) methyltransferase activity forming trimethylated 'Lys-27' (H3K27me3). |
| Sequence | MEFSIRKSPL SVQKVVKCMK MKQTPEILGS ANGKTQNCEV NHECSVFLSK AQLSNSLQEG 60 VMQKFNGHDA LPFLPAEKLK DLTSCVFNGE PGAHDTKLCF EAQEVKGIGT PPNTTPIKNG 120 SPEIKLKITK TYMNGKPLFE SSICGDGAAD VSQSEENEQK SDNKTRRNRK RSIKYDSLLE 180 QGLVEAALVS KISSPADKKI PVKKESCPNT GRDRDLLLKY NVGDLVWSKV SGYPWWPCMV 240 SADPLLHNHT KLKGQKKSAR QYHVQFFGDA PERAWIFEKS LVAFEGEEQF EKLCQESAKQ 300 APTKAEKIKL LKPISGRLRA QWEMGIVQAE EAASMSIEER KAKFTFLYVG DQLHLNPQVA 360 KEAGIVTEPL GEMVDSSGAS EEAAVDPGSV REEDIPTKRR RRTKRSSSAE NQEGDPGTDK 420 STPPKMAEAE PKRGVGSPAG RKKSTGSAPR SRKGDSAAQF LVFCQKHRDE VVAEHPDASG 480 EEIEELLGSQ WSMLNEKQKA RYNTKFSLMI SAQSEEDSGN GNGKKRSHTK RADDPAEDVD 540 VEDAPRKRLR ADKHSLRKRE TITDKTARTS SYKAIEAASS LKSQAATKNL SDACKPLKKR 600 NRASATASSA LGFNKSSSPS ASLTEHEVSD SPGDEPSESP YESADETQTE ASVSSKKSER 660 GMAAKKEYVC QLCEKTGSLL LCEGPCCGAF HLACLGLSRR PEGRFTCTEC ASGIHSCFVC 720 KESKMEVKRC VVNQCGKFYH EACVKKYPLT VFESRGFRCP LHSCMSCHAS NPSNPRPSKG 780 KMMRCVRCPV AYHGGDACLA AGCSVIASNS IICTGHFTAR KGKRHHTHVN VSWCFVCSKG 840 GSLLCCEACP AAFHPDCLNI EMPDGSWFCN DCRAGKKLHF QDIIWVKLGN YRWWPAEVCH 900 PKNVPPNIQK MKHEIGEFPV FFFGSKDYYW THQARVFPYM EGDRGSRYQG VRGIGRVFKN 960 ALQEAEARFN EVKLQREARE TQESERKPPP YKHIKVNKPY GKVQIYTADI SEIPKCNCKP 1020 TDENPCGSDS ECLNRMLMFE CHPQVCPAGE YCQNQCFTKR QYPETKIIKT DGKGWGLVAK 1080 RDIRKGEFVN EYVGELIDEE ECMARIKYAH ENDITHFYML TIDKDRIIDA GPKGNYSRFM 1140 NHSCQPNCET LKWTVNGDTR VGLFAVCDIP AGTELTFNYN LDCLGNEKTV CRCGASNCSG 1200 FLGDRPKTSA SLSSEEKGKK AKKKTRRRRA KGEGKRQSED ECFRCGDGGQ LVLCDRKFCT 1260 KAYHLSCLGL GKRPFGKWEC PWHHCDVCGK PSTSFCHLCP NSFCKEHQDG TAFRSTQDGQ 1320 SYCCEHDLRA DSSSSTKTEK PFPESLKSKG KRKKRRCWRR VTDGK 1365 |
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.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | NSD2 | 102186471 | A0A452E027 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | NSD2 | A0A5F5PRN6 | Equus caballus | Prediction | More>> | |||
| 1:1 ortholog | NSD2 | 7468 | O96028 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Nsd2 | 107823 | Q8BVE8 | CPO | E13.5 | Mus musculus | Publication | More>> |
| 1:1 ortholog | NSD2 | 461070 | H2QP41 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | NSD2 | F1S8S1 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | Nsd2 | 680537 | D4A9J4 | Rattus norvegicus | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0003682 | chromatin binding | IDA |
| GO:0018024 | histone-lysine N-methyltransferase activity | IDA |
| GO:0043565 | sequence-specific DNA binding | IDA |
| GO:0046872 | metal ion binding | IEA |
| GO:0046975 | histone methyltransferase activity (H3-K36 specific) | IBA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IGI |
| GO:0003149 | membranous septum morphogenesis | IMP |
| GO:0003289 | atrial septum primum morphogenesis | IMP |
| GO:0003290 | atrial septum secundum morphogenesis | IMP |
| GO:0006355 | regulation of transcription, DNA-templated | IBA |
| GO:0006355 | regulation of transcription, DNA-templated | IMP |
| GO:0010452 | histone H3-K36 methylation | IDA |
| GO:0034770 | histone H4-K20 methylation | IDA |
| GO:0048298 | positive regulation of isotype switching to IgA isotypes | IMP |
| GO:0060348 | bone development | IMP |
| GO:0070201 | regulation of establishment of protein localization | IMP |
| GO:2001032 | regulation of double-strand break repair via nonhomologous end joining | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000785 | chromatin | IBA |
| GO:0005634 | nucleus | IDA |
| GO:0005634 | nucleus | IBA |
| GO:0005654 | nucleoplasm | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-1640170 | Cell Cycle | IEA |
| R-MMU-3214841 | PKMTs methylate histone lysines | IEA |
| R-MMU-3247509 | Chromatin modifying enzymes | IEA |
| R-MMU-4839726 | Chromatin organization | IEA |
| R-MMU-5693532 | DNA Double-Strand Break Repair | IEA |
| R-MMU-5693538 | Homology Directed Repair | IEA |
| R-MMU-5693565 | Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks | IEA |
| R-MMU-5693567 | HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) | IEA |
| R-MMU-5693571 | Nonhomologous End-Joining (NHEJ) | IEA |
| R-MMU-5693606 | DNA Double Strand Break Response | IEA |
| R-MMU-5693607 | Processing of DNA double-strand break ends | IEA |
| R-MMU-69473 | G2/M DNA damage checkpoint | IEA |
| R-MMU-69481 | G2/M Checkpoints | IEA |
| R-MMU-69620 | Cell Cycle Checkpoints | IEA |
| R-MMU-73894 | DNA Repair | IEA |
| Keyword ID | Keyword Term |
|---|---|
| KW-0025 | Alternative splicing |
| KW-0156 | Chromatin regulator |
| KW-0158 | Chromosome |
| KW-0238 | DNA-binding |
| KW-0479 | Metal-binding |
| KW-0489 | Methyltransferase |
| KW-0539 | Nucleus |
| KW-0597 | Phosphoprotein |
| KW-1185 | Reference proteome |
| KW-0677 | Repeat |
| KW-0949 | S-adenosyl-L-methionine |
| KW-0804 | Transcription |
| KW-0805 | Transcription regulation |
| KW-0808 | Transferase |
| KW-0862 | Zinc |
| KW-0863 | Zinc-finger |
| InterPro ID | InterPro Term |
|---|---|
| IPR006560 | AWS_dom |
| IPR041306 | C5HCH |
| IPR009071 | HMG_box_dom |
| IPR036910 | HMG_box_dom_sf |
| IPR003616 | Post-SET_dom |
| IPR000313 | PWWP_dom |
| IPR001214 | SET_dom |
| IPR019786 | Zinc_finger_PHD-type_CS |
| IPR011011 | Znf_FYVE_PHD |
| IPR001965 | Znf_PHD |
| IPR019787 | Znf_PHD-finger |
| IPR001841 | Znf_RING |
| IPR013083 | Znf_RING/FYVE/PHD |