ENSG00000055609


Homo sapiens

Features
Gene ID: ENSG00000055609
  
Biological name :KMT2C
  
Synonyms : KMT2C / lysine methyltransferase 2C / Q8NEZ4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: q36.1
Gene start: 152134922
Gene end: 152436005
  
Corresponding Affymetrix probe sets: 1555408_at (Human Genome U133 Plus 2.0 Array)   1555409_a_at (Human Genome U133 Plus 2.0 Array)   1557158_s_at (Human Genome U133 Plus 2.0 Array)   222413_s_at (Human Genome U133 Plus 2.0 Array)   222414_at (Human Genome U133 Plus 2.0 Array)   222415_at (Human Genome U133 Plus 2.0 Array)   232940_s_at (Human Genome U133 Plus 2.0 Array)   235859_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000453752
Ensembl peptide - ENSP00000410411
Ensembl peptide - ENSP00000454058
Ensembl peptide - ENSP00000262189
Ensembl peptide - ENSP00000347325
Ensembl peptide - ENSP00000353218
Ensembl peptide - ENSP00000403483
Ensembl peptide - ENSP00000408001
Ensembl peptide - ENSP00000410239
NCBI entrez gene - 58508     See in Manteia.
OMIM - 606833
RefSeq - XM_017012489
RefSeq - XM_017012480
RefSeq - XM_017012481
RefSeq - XM_017012482
RefSeq - XM_017012483
RefSeq - XM_017012484
RefSeq - XM_017012485
RefSeq - XM_017012486
RefSeq - XM_017012487
RefSeq - XM_017012488
RefSeq - NM_170606
RefSeq - XM_005250025
RefSeq - XM_005250026
RefSeq - XM_005250027
RefSeq - XM_005250028
RefSeq - XM_005250031
RefSeq - XM_006716077
RefSeq - XM_006716078
RefSeq - XM_006716079
RefSeq - XM_011516450
RefSeq - XM_011516451
RefSeq - XM_011516452
RefSeq - XM_011516453
RefSeq - XM_011516454
RefSeq - XM_011516456
RefSeq Peptide - NP_733751
swissprot - H0YMU7
swissprot - H0YNL4
swissprot - H7BY37
swissprot - H7C212
swissprot - H7C2V8
swissprot - C9J4Z5
swissprot - H0Y765
swissprot - Q8NEZ4
Ensembl - ENSG00000055609
  
Related genetic diseases (OMIM): 617768 - Kleefstra syndrome 2, 617768
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 kmt2caENSDARG00000079312Danio rerio
 kmt2cbENSDARG00000075560Danio rerio
 ENSGALG00000043738Gallus gallus
 ENSGALG00000032600Gallus gallus
 Kmt2cENSMUSG00000038056Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KMT2D / O14686 / lysine methyltransferase 2DENSG0000016754835
KMT2A / Q03164 / lysine methyltransferase 2AENSG0000011805813
KMT2B / Q9UMN6 / lysine methyltransferase 2BENSG0000027233310
Q9UPS6 / SETD1B / SET domain containing 1BENSG000001397188
O15047 / SETD1A / SET domain containing 1AENSG000000993817


Protein motifs (from Interpro)
Interpro ID Name
 IPR000637  HMG-I/HMG-Y, DNA-binding, conserved site
 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
 IPR013083  Zinc finger, RING/FYVE/PHD-type
 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:0006325 chromatin organization IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0032259 methylation IEA
 biological_processGO:0034968 histone lysine methylation IEA
 biological_processGO:0045652 regulation of megakaryocyte differentiation TAS
 biological_processGO:0051568 histone H3-K4 methylation IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0035097 histone methyltransferase complex IDA
 cellular_componentGO:0044666 MLL3/4 complex IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008168 methyltransferase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016746 transferase activity, transferring acyl groups IEA
 molecular_functionGO:0018024 histone-lysine N-methyltransferase activity TAS
 molecular_functionGO:0042800 histone methyltransferase activity (H3-K4 specific) IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
PKMTs methylate histone lysines
Activation of anterior HOX genes in hindbrain development during early embryogenesis
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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