ENSMUSG00000048154


Mus musculus

Features
Gene ID: ENSMUSG00000048154
  
Biological name :Kmt2d
  
Synonyms : Histone-lysine N-methyltransferase 2D / Kmt2d / Q6PDK2
  
Possible biological names infered from orthology : lysine methyltransferase 2D / O14686
  
Species: Mus musculus
  
Chr. number: 15
Strand: -1
Band: F1
Gene start: 98831669
Gene end: 98871204
  
Corresponding Affymetrix probe sets: 10432294 (MoGene1.0st)   10432298 (MoGene1.0st)   1427555_at (Mouse Genome 430 2.0 Array)   1435550_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000023741
Ensembl peptide - ENSMUSP00000139020
Ensembl peptide - ENSMUSP00000142312
Ensembl peptide - ENSMUSP00000154984
Ensembl peptide - ENSMUSP00000135941
NCBI entrez gene - 381022     See in Manteia.
MGI - MGI:2682319
RefSeq - XM_017316684
RefSeq - XM_017316679
RefSeq - XM_017316680
RefSeq - XM_017316681
RefSeq - XM_017316682
RefSeq - XM_017316683
RefSeq - NM_001033276
RefSeq - XM_017316674
RefSeq - XM_017316675
RefSeq - XM_017316676
RefSeq - XM_017316677
RefSeq - XM_017316678
RefSeq Peptide - NP_001028448
swissprot - A0A0A6YY77
swissprot - A0A0A0MQ73
swissprot - Q6PDK2
swissprot - V9GX77
Ensembl - ENSMUSG00000048154
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 kmt2dENSDARG00000037060Danio rerio
 ENSGALG00000035501Gallus gallus
 ENSGALG00000031702Gallus gallus
 KMT2DENSG00000167548Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Kmt2c / lysine methyltransferase 2C / Q8NEZ4*ENSMUSG0000003805630
Kmt2a / P55200 / Mus musculus lysine (K)-specific methyltransferase 2A (Kmt2a), transcript variant 1, mRNA. / Q03164* / lysine methyltransferase 2A*ENSMUSG0000000202811
Kmt2b / O08550 / Histone-lysine N-methyltransferase 2B / Q9UMN6* / lysine methyltransferase 2B*ENSMUSG000000063079
Q8CFT2 / Setd1b / Histone-lysine N-methyltransferase SETD1B / Q9UPS6* / SET domain containing 1B*ENSMUSG000000383846
Setd1a / SET domain containing 1A / O15047*ENSMUSG000000423085
AC149222.1 / O15047* / SETD1A* / SET domain containing 1A*ENSMUSG000001088154


Protein motifs (from Interpro)
Interpro ID Name
 IPR001214  SET domain
 IPR001841  Zinc finger, RING-type
 IPR001965  Zinc finger, PHD-type
 IPR003616  Post-SET domain
 IPR003888  FY-rich, N-terminal
 IPR003889  FY-rich, C-terminal
 IPR009071  High mobility group box domain
 IPR011011  Zinc finger, FYVE/PHD-type
 IPR011989  Armadillo-like helical
 IPR013083  Zinc finger, RING/FYVE/PHD-type
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR019787  Zinc finger, PHD-finger
 IPR034732  Extended PHD (ePHD) domain
 IPR036910  High mobility group box domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001555 oocyte growth IMP
 biological_processGO:0001701 in utero embryonic development IMP
 biological_processGO:0006325 chromatin organization IEA
 biological_processGO:0006342 chromatin silencing IMP
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0008284 positive regulation of cell proliferation ISO
 biological_processGO:0010468 regulation of gene expression IMP
 biological_processGO:0032259 methylation IEA
 biological_processGO:0033148 positive regulation of intracellular estrogen receptor signaling pathway ISO
 biological_processGO:0034968 histone lysine methylation IEA
 biological_processGO:0043627 response to estrogen ISO
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II ISO
 biological_processGO:0048477 oogenesis IMP
 biological_processGO:0051568 histone H3-K4 methylation IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0035097 histone methyltransferase complex ISO
 cellular_componentGO:0044666 MLL3/4 complex ISO
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008168 methyltransferase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0018024 histone-lysine N-methyltransferase activity IEA
 molecular_functionGO:0042800 histone methyltransferase activity (H3-K4 specific) IEA
 molecular_functionGO:0044212 transcription regulatory region DNA binding ISO
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Formation of the beta-catenin:TCF transactivating complex
PKMTs methylate histone lysines
Deactivation of the beta-catenin transactivating complex
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000097 short maxilla "reduced length of the upper jaw bone" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:53370]
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Allelic Composition: Kmt2dGt(RRT024)Byg/Kmt2dGt(RRT024)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0000270 abnormal heart tube morphology "malformed embryonic heart " [J:37888]
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Allelic Composition: Braftm1Mmcm/Braf+,Tg(Tg-cre/ERT2)#Mmcm/0
Genetic Background: involves: 129P2/OlaHsd

 MP:0000281 abnormal ventricular septum morphology "abnormality in the wall between the ventricles of the heart, usually incomplete closure" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]
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Allelic Composition: Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig,Mesp1tm2(cre)Ysa/Mesp1+
Genetic Background: B6.Cg-Mesp1tm2(cre)Ysa Kmt2dtm1.1Kaig

Allelic Composition: Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig,Tg(Tnnt2-cre)5Blh/0
Genetic Background: B6.Cg-Kmt2dtm1.1Kaig Tg(Tnnt2-cre)5Blh

 MP:0000447 flattened snout 
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Allelic Composition: Kmt2dGt(RRT024)Byg/Kmt2dGt(RRT024)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0000812 abnormal dentate gyrus morphology "absence or malformation of one of two interlocking gyri of the hippocampus that contains granule cells, which project to the pyramidal cells and interneurons of the CA3 region of the ammon gyrus" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:38857]
Show

Allelic Composition: Kmt2dGt(RRT024)Byg/Kmt2dGt(RRT024)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Kmt2dGt(RRT024)Byg/Kmt2dGt(RRT024)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0001458 abnormal object recognition memory "defects in the ability to recognize objects that the animal has previously encountered; recognition is measured by relative amount of time exploring objects, which should decrease upon subsequent or multiple presentations of the same object when presented with novel objects at the same time" [CFG:Center for Functional Genomics , Northwestern University]
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Allelic Composition: Kmt2dGt(RRT024)Byg/Kmt2dGt(RRT024)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0001780 decreased brown fat amount "reduced quantity of this thermogenic form of adipose tissue" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig,Myf5tm3(cre)Sor/Myf5+
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

 MP:0001787 pericardial edema "accumulation of watery fluid in the pericardial sac of the heart" [J:52597]
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Allelic Composition: Braftm1Mmcm/Braf+,Tg(Tg-cre/ERT2)#Mmcm/0
Genetic Background: involves: 129P2/OlaHsd

 MP:0001806 decreased IgM "less than normal immunoglobulin class M level" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig,Cd19tm1(cre)Cgn/Cd19+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001953 respiratory failure "cessation of or failure to commence breathing" [MGI:cls, J:60159]
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Allelic Composition: Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig,Myf5tm3(cre)Sor/Myf5+
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

 MP:0002023 B cell derived lymphoma "heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig,Ighg1tm1(cre)Cgn/Ighg1+,Tg(Vav-BCL2)1Jad/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J

Allelic Composition: Kmt2dtm1.1Kaig/Kmt2d+,Ighg1tm1(cre)Cgn/Ighg1+,Tg(Vav-BCL2)1Jad/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Kmt2dtm1.1Kaig/Kmt2d+,Cd19tm1(cre)Cgn/Cd19+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Kmt2dtm1.1Kaig/Kmt2d+,Ighg1tm1(cre)Cgn/Ighg1+,Tg(Vav-BCL2)1Jad/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J

 MP:0002108 abnormal muscle morphology "abnormal development of muscle tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Atm1.1Arte/a
Genetic Background: C57BL/6NTac-Atm1.1Arte/a

 MP:0002144 abnormal B lymphocyte development "atypical production of or inability to produce mature B cells, and/or accumulation of B cell precursors" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Kdm6atm2.1Kaig/Kdm6atm2.1Kaig
Genetic Background: involves: 129 * C57BL/6

 MP:0002633 persistent truncus arteriosis "complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig,Mesp1tm2(cre)Ysa/Mesp1+
Genetic Background: B6.Cg-Mesp1tm2(cre)Ysa Kmt2dtm1.1Kaig

 MP:0002729 abnormal canal morphology "any anomaly or malformation of the tubular ducts of the inner ear" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Kmt2dGt(RRT024)Byg/Kmt2dGt(RRT024)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig,Mesp1tm2(cre)Ysa/Mesp1+
Genetic Background: B6.Cg-Mesp1tm2(cre)Ysa Kmt2dtm1.1Kaig

 MP:0004057 thin myocardial compact layer "reduced thickness of the outer, dense layer of the myocardium " [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig,Tg(Tnnt2-cre)5Blh/0
Genetic Background: B6.Cg-Kmt2dtm1.1Kaig Tg(Tnnt2-cre)5Blh

 MP:0004232 decreased muscle weight "less than average muscle weight" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig,Myf5tm3(cre)Sor/Myf5+
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

 MP:0005017 decreased B cell number "fewer than normal B cell numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig,Cd19tm1(cre)Cgn/Cd19+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0005154 increased B cell proliferation "greater than the normal response by B cells to grow and divide in response to stimuli " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig,Cd19tm1(cre)Cgn/Cd19+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0006386 absent somites "missing all somites" [MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Braftm1Mmcm/Braf+,Tg(Tg-cre/ERT2)#Mmcm/0
Genetic Background: involves: 129P2/OlaHsd

 MP:0008174 decreased follicular B cell number "reduced number of resting mature B cells with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes" [CL:0000843, ISBN:0781735149, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig,Cd19tm1(cre)Cgn/Cd19+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0008177 increased germinal center B cell number "greater number of rapidly cycling mature B cells which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen" [CL:0000844, GO:0002314, ISBN:0781735149]
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Allelic Composition: Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig,Cd19tm1(cre)Cgn/Cd19+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Kmt2dtm1.1Kaig/Kmt2d+,Cd19tm1(cre)Cgn/Cd19+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0008211 decreased mature B cell number "reduced number of the mature form of B cells, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex" [CL:0000785, ISBN:0781735149]
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Allelic Composition: Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig,Cd19tm1(cre)Cgn/Cd19+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0008285 abnormal hippocampus granule cell layer 
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Allelic Composition: Kmt2dGt(RRT024)Byg/Kmt2dGt(RRT024)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0008481 increased spleen germinal center number "greater number of spleen secondary B follicles where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs" [PMID:17495967]
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Allelic Composition: Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig,Cd19tm1(cre)Cgn/Cd19+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0008483 increased spleen germinal center size "greater size of spleen secondary B follicles where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs" [PMID:17495967]
Show

Allelic Composition: Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig,Cd19tm1(cre)Cgn/Cd19+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Kmt2dtm1.1Kaig/Kmt2d+,Cd19tm1(cre)Cgn/Cd19+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0008495 decreased IgG1 level "less than normal immunoglobulin class G1 level" [MGI:tmeehan "Terry Meehan, Mouse Genome Informatics Curator"]
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Allelic Composition: Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig,Cd19tm1(cre)Cgn/Cd19+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0008788 abnormal fetal cardiomyocyte morphology "any structural anomaly of fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes" [PMID:17429040]
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Allelic Composition: Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig,Tg(Tnnt2-cre)5Blh/0
Genetic Background: B6.Cg-Kmt2dtm1.1Kaig Tg(Tnnt2-cre)5Blh

 MP:0009317 follicular lymphoma "malignant lymphoma arising from lymphoid follicular B cells which may be small or large" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig,Ighg1tm1(cre)Cgn/Ighg1+,Tg(Vav-BCL2)1Jad/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J

Allelic Composition: Kmt2dtm1.1Kaig/Kmt2d+,Ighg1tm1(cre)Cgn/Ighg1+,Tg(Vav-BCL2)1Jad/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J

 MP:0009454 impaired contextual conditioning "decrease in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and the neutral, unchanging environment (the conditioned stimulus (CS), or the environmental context in this case)" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Kmt2dGt(RRT024)Byg/Kmt2dGt(RRT024)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig,Myf5tm3(cre)Sor/Myf5+
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

 MP:0011097 complete embryonic lethality before turning of embryo "death of all organisms of a given genotype in a population between somite formation and the initiation of embryo turning (Mus: E8 to less than E9)" [MGI:csmith]
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Allelic Composition: Braftm1Mmcm/Braf+,Tg(Tg-cre/ERT2)#Mmcm/0
Genetic Background: involves: 129P2/OlaHsd

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
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Allelic Composition: Atm1.1Arte/a
Genetic Background: C57BL/6NTac-Atm1.1Arte/a

Allelic Composition: Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig,Mesp1tm2(cre)Ysa/Mesp1+
Genetic Background: B6.Cg-Mesp1tm2(cre)Ysa Kmt2dtm1.1Kaig

Allelic Composition: Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig,Tg(Mef2c-cre)2Blk/0
Genetic Background: B6.Cg-Kmt2dtm1.1Kaig Tg(Mef2c-cre)2Blk

Allelic Composition: Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig,Tg(Tnnt2-cre)5Blh/0
Genetic Background: B6.Cg-Kmt2dtm1.1Kaig Tg(Tnnt2-cre)5Blh

Allelic Composition: Kmt2dGt(RRT024)Byg/Kmt2dGt(RRT024)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0011170 abnormal brown fat cell differentiation "abnormal or arrest of differentiation of cells from the thermogenic form of adipose tissue found in newborns of many species, including humans, and in hibernating mammals" [CL:0000449, MGI:csmith]
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Allelic Composition: Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig,Myf5tm3(cre)Sor/Myf5+
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

 MP:0011395 decreased fetal cardiomyocyte proliferation "reduced ability of the differentiating cardiac muscle cell population to undergo expansion by cell division" [MGI:csmith]
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Allelic Composition: Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig,Tg(Tnnt2-cre)5Blh/0
Genetic Background: B6.Cg-Kmt2dtm1.1Kaig Tg(Tnnt2-cre)5Blh

 MP:0011925 abnormal heart echocardiography feature "any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features" [MPD:Molly]
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Allelic Composition: Braftm1Mmcm/Braf+,Tg(Tg-cre/ERT2)#Mmcm/0
Genetic Background: involves: 129P2/OlaHsd

 MP:0012307 impaired spatial learning "impaired ability to ascertain or acquire spatial location information in order to improve navigation or other behavior using such location cues" [MGI:csmith]
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Allelic Composition: Kmt2dGt(RRT024)Byg/Kmt2dGt(RRT024)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0012724 failure of head fold formation "inability to form the crescent-shaped, ventrally located fold of the embryonic disc at the future cephalic end of the developing embryo; the head fold constitutes the first body fold, and initiates brain, foregut and heart development" [MGI:anna]
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Allelic Composition: Braftm1Mmcm/Braf+,Tg(Tg-cre/ERT2)#Mmcm/0
Genetic Background: involves: 129P2/OlaHsd

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000060981 P62806 / Hist1h4h / Histone H4   / reaction






 

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