ID B8JIA4_DANRE Unreviewed; 1461 AA. AC B8JIA4; A0A8M1ND41; DT 03-MAR-2009, integrated into UniProtKB/TrEMBL. DT 03-MAR-2009, sequence version 1. DT 27-MAR-2024, entry version 118. DE SubName: Full=Histone-lysine N-methyltransferase NSD2 {ECO:0000313|RefSeq:NP_001076020.1}; DE EC=2.1.1.43 {ECO:0000313|RefSeq:NP_001076020.1}; DE SubName: Full=Nuclear receptor-binding SET domain protein 2 {ECO:0000313|Ensembl:ENSDARP00000002944}; GN Name=nsd2 {ECO:0000313|Ensembl:ENSDARP00000002944, GN ECO:0000313|RefSeq:NP_001076020.1, GN ECO:0000313|ZFIN:ZDB-GENE-030131-2581}; GN Synonyms=fc12c04 {ECO:0000313|RefSeq:NP_001076020.1}, si:rp71-77d7.2 GN {ECO:0000313|RefSeq:NP_001076020.1}, whsc1 GN {ECO:0000313|RefSeq:NP_001076020.1}, wu:fc12c04 GN {ECO:0000313|RefSeq:NP_001076020.1}, wu:fi20c01 GN {ECO:0000313|RefSeq:NP_001076020.1}; OS Danio rerio (Zebrafish) (Brachydanio rerio). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; OC Danionidae; Danioninae; Danio. OX NCBI_TaxID=7955 {ECO:0000313|Ensembl:ENSDARP00000002944}; RN [1] {ECO:0000313|RefSeq:NP_001076020.1} RP NUCLEOTIDE SEQUENCE. RX PubMed=15520368; DOI=10.1073/pnas.0407241101; RA Song H.D., Sun X.J., Deng M., Zhang G.W., Zhou Y., Wu X.Y., Sheng Y., RA Chen Y., Ruan Z., Jiang C.L., Fan H.Y., Zon L.I., Kanki J.P., Liu T.X., RA Look A.T., Chen Z.; RT "Hematopoietic gene expression profile in zebrafish kidney marrow."; RL Proc. Natl. Acad. Sci. U.S.A. 101:16240-16245(2004). RN [2] {ECO:0000313|RefSeq:NP_001076020.1} RP NUCLEOTIDE SEQUENCE. RX PubMed=18231586; DOI=10.1371/journal.pone.0001499; RA Sun X.J., Xu P.F., Zhou T., Hu M., Fu C.T., Zhang Y., Jin Y., Chen Y., RA Chen S.J., Huang Q.H., Liu T.X., Chen Z.; RT "Genome-wide survey and developmental expression mapping of zebrafish SET RT domain-containing genes."; RL PLoS ONE 3:E1499-E1499(2008). RN [3] {ECO:0000313|RefSeq:NP_001076020.1} RP NUCLEOTIDE SEQUENCE. RX PubMed=20946879; RA Yamada-Okabe T., Imamura K., Kawaguchi N., Sakai H., Yamashita M., RA Matsumoto N.; RT "Functional characterization of the zebrafish WHSC1-related gene, a homolog RT of human NSD2."; RL Biochem. Biophys. Res. Commun. 402:335-339(2010). RN [4] {ECO:0000313|RefSeq:NP_001076020.1} RP NUCLEOTIDE SEQUENCE. RX PubMed=24240475; RA Huang H.T., Kathrein K.L., Barton A., Gitlin Z., Huang Y.H., Ward T.P., RA Hofmann O., Dibiase A., Song A., Tyekucheva S., Hide W., Zhou Y., Zon L.I.; RT "A network of epigenetic regulators guides developmental haematopoiesis in RT vivo."; RL Nat. Cell Biol. 15:1516-1525(2013). RN [5] {ECO:0000313|Ensembl:ENSDARP00000002944, ECO:0000313|Proteomes:UP000000437} RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RC STRAIN=Tuebingen {ECO:0000313|Ensembl:ENSDARP00000002944}; RX PubMed=23594743; DOI=10.1038/nature12111; RG Genome Reference Consortium Zebrafish; RA Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M., RA Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I., RA Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J., RA White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y., RA Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B., RA Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S., RA Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M., RA Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J., RA Clee C., Oliver K., Clark R., Riddle C., Elliot D., Eliott D., RA Threadgold G., Harden G., Ware D., Begum S., Mortimore B., Mortimer B., RA Kerry G., Heath P., Phillimore B., Tracey A., Corby N., Dunn M., RA Johnson C., Wood J., Clark S., Pelan S., Griffiths G., Smith M., RA Glithero R., Howden P., Barker N., Lloyd C., Stevens C., Harley J., RA Holt K., Panagiotidis G., Lovell J., Beasley H., Henderson C., Gordon D., RA Auger K., Wright D., Collins J., Raisen C., Dyer L., Leung K., RA Robertson L., Ambridge K., Leongamornlert D., McGuire S., Gilderthorp R., RA Griffiths C., Manthravadi D., Nichol S., Barker G., Whitehead S., Kay M., RA Brown J., Murnane C., Gray E., Humphries M., Sycamore N., Barker D., RA Saunders D., Wallis J., Babbage A., Hammond S., Mashreghi-Mohammadi M., RA Barr L., Martin S., Wray P., Ellington A., Matthews N., Ellwood M., RA Woodmansey R., Clark G., Cooper J., Cooper J., Tromans A., Grafham D., RA Skuce C., Pandian R., Andrews R., Harrison E., Kimberley A., Garnett J., RA Fosker N., Hall R., Garner P., Kelly D., Bird C., Palmer S., Gehring I., RA Berger A., Dooley C.M., Ersan-Urun Z., Eser C., Geiger H., Geisler M., RA Karotki L., Kirn A., Konantz J., Konantz M., Oberlander M., RA Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G., Osoegawa K., Zhu B., RA Rapp A., Widaa S., Langford C., Yang F., Schuster S.C., Carter N.P., RA Harrow J., Ning Z., Herrero J., Searle S.M., Enright A., Geisler R., RA Plasterk R.H., Lee C., Westerfield M., de Jong P.J., Zon L.I., RA Postlethwait J.H., Nusslein-Volhard C., Hubbard T.J., Roest Crollius H., RA Rogers J., Stemple D.L.; RT "The zebrafish reference genome sequence and its relationship to the human RT genome."; RL Nature 496:498-503(2013). RN [6] {ECO:0000313|Ensembl:ENSDARP00000002944} RP IDENTIFICATION. RC STRAIN=Tuebingen {ECO:0000313|Ensembl:ENSDARP00000002944}; RG Ensembl; RL Submitted (AUG-2013) to UniProtKB. RN [7] {ECO:0000313|RefSeq:NP_001076020.1} RP NUCLEOTIDE SEQUENCE. RX PubMed=24480746; RA Liu D., Wang Z., Xiao A., Zhang Y., Li W., Zu Y., Yao S., Lin S., Zhang B.; RT "Efficient gene targeting in zebrafish mediated by a zebrafish-codon- RT optimized cas9 and evaluation of off-targeting effect."; RL J. Genet. Genomics 41:43-46(2014). RN [8] {ECO:0000313|RefSeq:NP_001076020.1} RP NUCLEOTIDE SEQUENCE. RX PubMed=24901507; RA Yu C., Zhang Y., Yao S., Wei Y.; RT "A PCR based protocol for detecting indel mutations induced by TALENs and RT CRISPR/Cas9 in zebrafish."; RL PLoS ONE 9:e98282-e98282(2014). RN [9] {ECO:0000313|RefSeq:NP_001076020.1} RP NUCLEOTIDE SEQUENCE. RX PubMed=28654864; RA Yu C., Yao X., Zhao L., Wang P., Zhang Q., Zhao C., Yao S., Wei Y.; RT "Wolf-Hirschhorn Syndrome Candidate 1 (whsc1) Functions as a Tumor RT Suppressor by Governing Cell Differentiation."; RL Neoplasia 19:606-616(2017). RN [10] {ECO:0000313|RefSeq:NP_001076020.1} RP IDENTIFICATION. RG RefSeq; RL Submitted (NOV-2023) to UniProtKB. CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000256|ARBA:ARBA00004123}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; CR556722; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CT573111; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR RefSeq; NP_001076020.1; NM_001082551.1. DR STRING; 7955.ENSDARP00000002944; -. DR PaxDb; 7955-ENSDARP00000002944; -. DR Ensembl; ENSDART00000009499; ENSDARP00000002944; ENSDARG00000026225. DR Ensembl; ENSDART00000009499.9; ENSDARP00000002944.8; ENSDARG00000026225.10. DR GeneID; 100000709; -. DR KEGG; dre:100000709; -. DR AGR; ZFIN:ZDB-GENE-030131-2581; -. DR CTD; 7468; -. DR ZFIN; ZDB-GENE-030131-2581; nsd2. DR eggNOG; KOG1081; Eukaryota. DR HOGENOM; CLU_004494_2_1_1; -. DR OMA; SEHEFGV; -. DR OrthoDB; 950362at2759; -. DR PhylomeDB; B8JIA4; -. DR TreeFam; TF329088; -. DR Reactome; R-DRE-3214841; PKMTs methylate histone lysines. DR Reactome; R-DRE-5693565; Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks. DR Reactome; R-DRE-5693571; Nonhomologous End-Joining (NHEJ). DR Reactome; R-DRE-5693607; Processing of DNA double-strand break ends. DR Reactome; R-DRE-69473; G2/M DNA damage checkpoint. DR Proteomes; UP000000437; Alternate scaffold 13. DR Proteomes; UP000000437; Chromosome 13. DR Bgee; ENSDARG00000026225; Expressed in early embryo and 28 other cell types or tissues. DR GO; GO:0000785; C:chromatin; IBA:GO_Central. DR GO; GO:0005634; C:nucleus; IBA:GO_Central. DR GO; GO:0046975; F:histone H3K36 methyltransferase activity; IMP:ZFIN. DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW. DR GO; GO:0051216; P:cartilage development; IMP:ZFIN. DR GO; GO:0048706; P:embryonic skeletal system development; IMP:ZFIN. DR GO; GO:0006355; P:regulation of DNA-templated transcription; IBA:GO_Central. DR CDD; cd15657; PHD4_NSD2; 1. DR CDD; cd20165; PWWP_NSD2_rpt2; 1. DR CDD; cd20144; PWWP_NSD_rpt1; 1. DR CDD; cd19211; SET_NSD2; 1. DR Gene3D; 2.30.30.140; -; 2. DR Gene3D; 2.170.270.10; SET domain; 1. DR Gene3D; 3.30.40.10; Zinc/RING finger domain, C3HC4 (zinc finger); 4. DR InterPro; IPR006560; AWS_dom. DR InterPro; IPR041306; C5HCH. DR InterPro; IPR003616; Post-SET_dom. DR InterPro; IPR000313; PWWP_dom. DR InterPro; IPR047435; PWWP_NSD2_rpt2. DR InterPro; IPR001214; SET_dom. DR InterPro; IPR046341; SET_dom_sf. DR InterPro; IPR047437; SET_NSD2. DR InterPro; IPR019786; Zinc_finger_PHD-type_CS. DR InterPro; IPR011011; Znf_FYVE_PHD. DR InterPro; IPR001965; Znf_PHD. DR InterPro; IPR019787; Znf_PHD-finger. DR InterPro; IPR013083; Znf_RING/FYVE/PHD. DR PANTHER; PTHR22884:SF293; HISTONE-LYSINE N-METHYLTRANSFERASE NSD2; 1. DR PANTHER; PTHR22884; SET DOMAIN PROTEINS; 1. DR Pfam; PF17907; AWS; 1. DR Pfam; PF17982; C5HCH; 1. DR Pfam; PF00628; PHD; 1. DR Pfam; PF00855; PWWP; 2. DR Pfam; PF00856; SET; 1. DR SMART; SM00570; AWS; 1. DR SMART; SM00249; PHD; 5. DR SMART; SM00508; PostSET; 1. DR SMART; SM00293; PWWP; 2. DR SMART; SM00317; SET; 1. DR SUPFAM; SSF57903; FYVE/PHD zinc finger; 2. DR SUPFAM; SSF82199; SET domain; 1. DR SUPFAM; SSF63748; Tudor/PWWP/MBT; 2. DR PROSITE; PS51215; AWS; 1. DR PROSITE; PS50868; POST_SET; 1. DR PROSITE; PS50812; PWWP; 2. DR PROSITE; PS50280; SET; 1. DR PROSITE; PS01359; ZF_PHD_1; 2. DR PROSITE; PS50016; ZF_PHD_2; 1. PE 1: Evidence at protein level; KW Chromatin regulator {ECO:0000256|ARBA:ARBA00022853}; KW Metal-binding {ECO:0000256|ARBA:ARBA00022723}; KW Proteomics identification {ECO:0007829|PeptideAtlas:B8JIA4}; KW Reference proteome {ECO:0000313|Proteomes:UP000000437}; KW Repeat {ECO:0000256|ARBA:ARBA00022737}; KW S-adenosyl-L-methionine {ECO:0000256|ARBA:ARBA00022691}; KW Transferase {ECO:0000256|ARBA:ARBA00022679}; KW Zinc {ECO:0000256|ARBA:ARBA00022833}; KW Zinc-finger {ECO:0000256|ARBA:ARBA00022771, ECO:0000256|PROSITE- KW ProRule:PRU00146}. FT DOMAIN 285..349 FT /note="PWWP" FT /evidence="ECO:0000259|PROSITE:PS50812" FT DOMAIN 923..967 FT /note="PHD-type" FT /evidence="ECO:0000259|PROSITE:PS50016" FT DOMAIN 972..1034 FT /note="PWWP" FT /evidence="ECO:0000259|PROSITE:PS50812" FT DOMAIN 1102..1152 FT /note="AWS" FT /evidence="ECO:0000259|PROSITE:PS51215" FT DOMAIN 1154..1271 FT /note="SET" FT /evidence="ECO:0000259|PROSITE:PS50280" FT DOMAIN 1278..1294 FT /note="Post-SET" FT /evidence="ECO:0000259|PROSITE:PS50868" FT REGION 1..39 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 426..504 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 521..543 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 604..753 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 1296..1321 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 1419..1461 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 443..482 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 613..660 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 675..717 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 735..753 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 1443..1461 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" SQ SEQUENCE 1461 AA; 163792 MW; 4D7815F3AF48B62D CRC64; MTDSKGGSLP AMPEPKSPTS MKQLSDSPGG RNGLVDGITD PTMLMNKAAT QLAATPQESV PQMIGSHGHN HTHEHLKDLT SRLLNGDTEK IPKLCAAPAG QPLLKGVEPV SQHASPPRKT SVSPELTVKI TKCVVNLGGK PNRYEVDYTE EKAEETDAPL RLPEGVLTSP TARRDRQKKK GMVRKRIPPY PILTHAASSD QSPLLHPTIN SNDITIEPCG LPVESIEHTH GDMPTCVTAF PDEQPLSDCE ETVDAQGVDE TDDAQGENDV KESYTETQSN VHFSVGDVIW TKVSGYPWWP CMITTDPEFN MHFRSKVNSR TGLLYHVQYF GDTPERGYVF EKCIVTFSGK HQYQSLSRSN QLPINISGRK RAVPRKFRQK WEIGVSQAKE ALGLLTEERL AKFSFVYEDG KAQLNPHMLQ VLEEQRNQGL QEEPVQREPQ ELVSLTPPDS THSSPTNSST TSTIPSLFSN PIDSSTSSGK TALPRKARKP SVKTNRRKQR SSTIEWIVTE ASSAKQMPLT ESTVQCEVNT EHKKKGKTNA GKRPYRKKDL LCIDLDLQPK ASQKKPRHIR QKFPAAPNSV KKRKIKAGVS ICDTLNTVST SAGLSEVKAS APSTKLWEKE DASSKGMKKV CKRSRESKQD VTLQPKKKSK LEKDFKKWKC PKAASSAPAA VPAPRGRRRK TDRDENRKRS KKASKEEPPP KAKRGRKRKE ESGRQSFPAS KKCRPSSYAE PERPDSPSDS TDESHPSKKA ERTPGAKKES VCLVCEQTGE DIVTCAGQCY GTYHLHCIGV ERSAEKILCT ACSTGVHVCF TCKKSEGEVR RCCALHCGRF YHEACVRLSA LTVFENRGFR CPLHTCLSCH YSGRAACKAT KGKMMRCLRC PVAYHVGDLC VAAGSEMISS SAIVCTNHFR AKKGYSHHSH VNVSWCFICS KGGRLLCCES CPAAFHPDCL NIAMPDGSWF CNDCRSGKKP KYRDVIWVKL GNYRWWPAEI RHPKNIPTNI QHLRHEIGEF PVFFFGSKDY FWTHQGRVFP YMEGDRGSKY QQTGIGKVFK NALLDAETRF KEIEMEREAK EAHENNKKPP PFKYIKVNKP CGRVQVYTAD ISEIPKCNCK PSTERPCSFE SECLNRMLLY ECHPQVCPAG ERCQNQDFTK RLYPETKIIR TAGKGWGLIS LRDIKKGEFV NEYVGELIDE EECRSRIRHA QENDITHFYM LTIDKDRIID AGPKGNYSRF MNHSCQPNCE TQKWTVNGDT RVGLFAVCDI PAGTELTFNY NLDCLGNEKT VCRCGAPNCS GFLGDRPKNG HTSEPKAKLQ KKKPKRKRAR NEGKKSEDEC FRCGDGGQLV LCDKKGCTKA YHLSCLDRTK RPFGRWDCPW HHCDVCGKNS AAFCQLCPNS FCKAHQEGAL RSHPLTGQLC CQEHEDSDIR PQTETAQLPP PTKPRKYRRR AEAKTTSKAP LKKRPRKNAE V //