ENSMUSG00000057406


Mus musculus

Features
Gene ID: ENSMUSG00000057406
  
Biological name :Nsd2
  
Synonyms : Histone-lysine N-methyltransferase NSD2 / Nsd2 / Q8BVE8
  
Possible biological names infered from orthology : nuclear receptor binding SET domain protein 2 / O96028
  
Species: Mus musculus
  
Chr. number: 5
Strand: 1
Band: B2
Gene start: 33820725
Gene end: 33897975
  
Corresponding Affymetrix probe sets: 10521136 (MoGene1.0st)   1428827_at (Mouse Genome 430 2.0 Array)   1435136_at (Mouse Genome 430 2.0 Array)   1436036_at (Mouse Genome 430 2.0 Array)   1443741_x_at (Mouse Genome 430 2.0 Array)   1455228_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000121805
Ensembl peptide - ENSMUSP00000117233
Ensembl peptide - ENSMUSP00000122310
Ensembl peptide - ENSMUSP00000144255
Ensembl peptide - ENSMUSP00000123460
Ensembl peptide - ENSMUSP00000058940
Ensembl peptide - ENSMUSP00000067205
Ensembl peptide - ENSMUSP00000075210
Ensembl peptide - ENSMUSP00000110039
Ensembl peptide - ENSMUSP00000110041
Ensembl peptide - ENSMUSP00000115251
NCBI entrez gene - 107823     See in Manteia.
MGI - MGI:1276574
RefSeq - XM_017320590
RefSeq - NM_001081102
RefSeq - NM_001177884
RefSeq - NM_175231
RefSeq - XM_006503658
RefSeq - XM_006503659
RefSeq - XM_006503660
RefSeq - XM_006503661
RefSeq - XM_006503662
RefSeq - XM_006503663
RefSeq Peptide - NP_001171355
RefSeq Peptide - NP_780440
RefSeq Peptide - NP_001074571
swissprot - F6S6G6
swissprot - F6Y765
swissprot - D3Z229
swissprot - A0A0J9YUM7
swissprot - Q8BVE8
swissprot - D3Z3E4
swissprot - D3Z3E0
Ensembl - ENSMUSG00000057406
  

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 nsd2ENSDARG00000026225Danio rerio
 NSD2ENSGALG00000015705Gallus gallus
 NSD2ENSG00000109685Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Nsd3 / Q6P2L6 / Histone-lysine N-methyltransferase NSD3 / Q9BZ95* / nuclear receptor binding SET domain protein 3*ENSMUSG0000005482346
Nsd1 / nuclear receptor-binding SET-domain protein 1 / Q96L73*ENSMUSG0000002148846
Ash1l / Q99MY8 / Histone-lysine N-methyltransferase ASH1L / Q9NR48* / ASH1 like histone lysine methyltransferase*ENSMUSG0000002805317
Setd2 / E9Q5F9 / Histone-lysine N-methyltransferase SETD2 / Q9BYW2* / SET domain containing 2*ENSMUSG0000004479116
Ehmt1 / Q5DW34 / Histone-lysine N-methyltransferase EHMT1 / Q9H9B1* / euchromatic histone lysine methyltransferase 1*ENSMUSG0000003689313
Ehmt2 / Q9Z148 / Histone-lysine N-methyltransferase EHMT2 / Q96KQ7* / euchromatic histone lysine methyltransferase 2*ENSMUSG0000001378711
Setdb1 / SET domain, bifurcated 1 / Q15047*ENSMUSG0000001569710
Q9Z180 / Setbp1 / SET-binding protein / Q9Y6X0* / SET binding protein 1*ENSMUSG0000002454810
Ezh1 / P70351 / Histone-lysine N-methyltransferase EZH1 / Q92800* / enhancer of zeste 1 polycomb repressive complex 2 subunit*ENSMUSG000000069209
Ezh2 / Q61188 / Histone-lysine N-methyltransferase EZH2 / Q15910* / enhancer of zeste 2 polycomb repressive complex 2 subunit*ENSMUSG000000296878
Q8C267 / Setdb2 / SET domain, bifurcated 2 / Q96T68*ENSMUSG000000713506
Suv39h2 / suppressor of variegation 3-9 2 / Q9H5I1* / suppressor of variegation 3-9 homolog 2*ENSMUSG000000266466
O54864 / Suv39h1 / suppressor of variegation 3-9 1 / O43463* / suppressor of variegation 3-9 homolog 1*ENSMUSG000000392316
Q80UJ9 / Setmar / Histone-lysine N-methyltransferase SETMAR / Q53H47* / SET domain and mariner transposase fusion gene*ENSMUSG000000346395


Protein motifs (from Interpro)
Interpro ID Name
 IPR000313  PWWP domain
 IPR001214  SET domain
 IPR001841  Zinc finger, RING-type
 IPR001965  Zinc finger, PHD-type
 IPR003616  Post-SET domain
 IPR006560  AWS domain
 IPR009071  High mobility group box domain
 IPR011011  Zinc finger, FYVE/PHD-type
 IPR013083  Zinc finger, RING/FYVE/PHD-type
 IPR019786  Zinc finger, PHD-type, conserved site
 IPR019787  Zinc finger, PHD-finger
 IPR036910  High mobility group box domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IGI
 biological_processGO:0003149 membranous septum morphogenesis IMP
 biological_processGO:0003289 atrial septum primum morphogenesis IMP
 biological_processGO:0003290 atrial septum secundum morphogenesis IMP
 biological_processGO:0006325 chromatin organization IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IMP
 biological_processGO:0010452 histone H3-K36 methylation IDA
 biological_processGO:0032259 methylation IEA
 biological_processGO:0034770 histone H4-K20 methylation IDA
 biological_processGO:0048298 positive regulation of isotype switching to IgA isotypes IMP
 biological_processGO:0060348 bone development IMP
 biological_processGO:0070201 regulation of establishment of protein localization IMP
 biological_processGO:2001032 regulation of double-strand break repair via nonhomologous end joining IMP
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005694 chromosome IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003682 chromatin binding IDA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008168 methyltransferase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0018024 histone-lysine N-methyltransferase activity IDA
 molecular_functionGO:0043565 sequence-specific DNA binding IDA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
PKMTs methylate histone lysines
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Nonhomologous End-Joining (NHEJ)
G2/M DNA damage checkpoint


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000111 cleft palate "congenital fissure of the tissues normally uniting to form the palate" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
Show

Allelic Composition: Cnga2tm1Gvr/Y
Genetic Background: involves: 129 * 129S1/SvImJ * C57BL/6J

 MP:0000120 malocclusion "perturbations in the normal patterned arrangement of the teeth or alignment of the jaw, resulting in the incorrect position of biting or chewing surfaces of the upper and lower teeth" [J:61509]
Show

Allelic Composition: Nsd2tm1Ykan/Nsd2+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0000282 abnormal atrial septum morphology "abnormality in the wall between the atria of the heart, usually incomplete closure " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]
Show

Allelic Composition: Cnga2tm1Gvr/Y
Genetic Background: involves: 129 * 129S1/SvImJ * C57BL/6J

Allelic Composition: Nsd2tm1Ykan/Nsd2+
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Nkx2-5tm1(cre)Rjs/Nkx2-5+,Nsd2tm1Ykan/Nsd2+
Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Cnga2tm1Gvr/Y
Genetic Background: involves: 129 * 129S1/SvImJ * C57BL/6J

Allelic Composition: Nsd2tm1Ykan/Nsd2+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0004200 reduced fetal size "smaller proportions of a fetus compared to littermates (sensu Mus: from E14 through birth)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cnga2tm1Gvr/Y
Genetic Background: involves: 129 * 129S1/SvImJ * C57BL/6J

 MP:0008277 abnormal sternum ossification "anomaly in the process of the formation of the sternum bone by the replacement of cartilage tissue with mineralized bone" [GO:0001958, MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nsd2tm1Ykan/Nsd2+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0008278 failure of sternum ossification "failure to initiate or a block in the process of the formation of the sternum bone by the replacement of cartilage tissue with mineralized bone" [GO:0001958, MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cnga2tm1Gvr/Y
Genetic Background: involves: 129 * 129S1/SvImJ * C57BL/6J

 MP:0010403 atrial septal defect "abnormal communications between the two upper chambers of the heart, including such defects in any or all of the ostium primum, ostium secundum, sinus venosus, and coronary sinus regions" [MESH:C14.240.400.560.375]
Show

Allelic Composition: Cnga2tm1Gvr/Y
Genetic Background: involves: 129 * 129S1/SvImJ * C57BL/6J

Allelic Composition: Nkx2-5tm1(cre)Rjs/Nkx2-5+,Nsd2tm1Ykan/Nsd2+
Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6

 MP:0010418 perimembraneous ventricular septal defect "abnormal communications between the two lower chambers of the heart, occurring in the membranous septum with defects in the adjacent muscular portion of the septum; it is generally located in the LV outflow tract just below the aortic valve, associated with pouches or aneurysms of the septal leaflet of the tricuspid valve, which may partially or completely close the defect; an LV-to-RA shunt may also be associated with this defect" [http://emedicine.medscape.com]
Show

Allelic Composition: Cnga2tm1Gvr/Y
Genetic Background: involves: 129 * 129S1/SvImJ * C57BL/6J

Allelic Composition: Nkx2-5tm1(cre)Rjs/Nkx2-5+,Nsd2tm1Ykan/Nsd2+
Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Cnga2tm1Gvr/Y
Genetic Background: involves: 129 * 129S1/SvImJ * C57BL/6J

 MP:0011088 partial neonatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Cnga2tm1Gvr/Y
Genetic Background: involves: 129 * 129S1/SvImJ * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000003099 Ppp5c / Q60676 / Serine/threonine-protein phosphatase 5 / P53041* / protein phosphatase 5 catalytic subunit*  / reaction
 ENSMUSG00000002221 Paxip1 / Q6NZQ4 / PAX-interacting protein 1 / Q6ZW49*  / reaction / complex
 ENSMUSG00000020380 Rad50 / RAD50 double strand break repair protein / Q92878* / AC116366.3*  / complex / reaction
 ENSMUSG00000014074 Q80XJ2 / Rnf168 / E3 ubiquitin-protein ligase RNF168 / Q8IYW5* / ring finger protein 168*  / reaction / complex
 ENSMUSG00000024201 Kdm4b / Q91VY5 / Lysine-specific demethylase 4B / O94953* / lysine demethylase 4B*  / complex / reaction
 ENSMUSG00000028224 Nbn / Q9R207 / Nibrin / O60934*  / complex / reaction
 ENSMUSG00000031928 Mre11a / Q61216 / Double-strand break repair protein MRE11 / MRE11* / P49959* / MRE11 homolog, double strand break repair nuclease*  / complex / reaction
 ENSMUSG00000035234 Q8BPZ8 / Abraxas1 / BRCA1 A complex subunit / Q6UWZ7* / abraxas 1, BRCA1 A complex subunit*  / reaction / complex
 ENSMUSG00000026648 Q8K4J0 / Dclre1c / Protein artemis / Q96SD1* / DNA cross-link repair 1C*  / reaction / complex
 ENSMUSG00000049932 H2afx / P27661 / Histone H2AX / P16104* / H2A histone family member X*  / complex / reaction
 ENSMUSG00000033326 Kdm4a / Q8BW72 / Lysine-specific demethylase 4A / O75164* / AL451062.3* / lysine demethylase 4A*  / reaction / complex
 ENSMUSG00000025878 Uimc1 / ubiquitin interaction motif containing 1 / Q96RL1*  / reaction / complex
 ENSMUSG00000026021 Sumo1 / P63166 / Small ubiquitin-related modifier 1 / P63165* / small ubiquitin-like modifier 1*  / reaction / complex
 ENSMUSG00000004934 Pias4 / Q9JM05 / protein inhibitor of activated STAT 4 / Q8N2W9*  / complex / reaction
 ENSMUSG00000036202 Rif1 / Q6PR54 / Telomere-associated protein RIF1 / Q5UIP0* / replication timing regulatory factor 1*  / reaction / complex
 ENSMUSG00000060981 P62806 / Hist1h4h / Histone H4   / complex / reaction
 ENSMUSG00000015120 Ube2i / P63280 / ubiquitin-conjugating enzyme E2I / P63279*  / reaction
 ENSMUSG00000090083 Rnf8 / Q8VC56 / E3 ubiquitin-protein ligase RNF8 / O76064* / ring finger protein 8*  / reaction / complex
 ENSMUSG00000043909 P70399 / Trp53bp1 / TP53-binding protein 1 / Q12888* / TP53BP1* / tumor protein p53 binding protein 1*  / reaction / complex
 ENSMUSG00000022674 Q9D2M8 / Ube2v2 / ubiquitin-conjugating enzyme E2 variant 2 / Q15819* / ubiquitin conjugating enzyme E2 V2*  / complex
 ENSMUSG00000061607 Mdc1 / Q14676* / mediator of DNA damage checkpoint 1*  / complex / reaction
 ENSMUSG00000098374 Gm28043 / RNF8* / O76064* / ring finger protein 8*  / reaction / complex
 ENSMUSG00000024926 Kat5 / Q8CHK4 / Histone acetyltransferase KAT5 / Q92993* / lysine acetyltransferase 5*  / complex / reaction
 ENSMUSG00000030451 Herc2 / Q4U2R1 / E3 ubiquitin-protein ligase HERC2 / O95714* / HECT and RLD domain containing E3 ubiquitin protein ligase 2*  / complex / reaction
 ENSMUSG00000034218 Atm / Q62388 / Serine-protein kinase ATM / Q13315* / ATM serine/threonine kinase*  / complex / reaction
 ENSMUSG00000029521 Chek2 / Q9Z265 / Serine/threonine-protein kinase Chk2 / O96017* / checkpoint kinase 2*  / reaction / complex






 

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