KMT2C

Protein identityUniProt · HPA

UniProt accession

Q8NEZ4

Gene

KMT2C

Ensembl

ENSG00000055609

Chromosome

7

Canonical length

4911 aa

Protein class

Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm

OverviewNCBI Gene

This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

4911 residues, UniProt reviewed canonical sequence.

>Q8NEZ4|KMT2C
     1  MSSEEDKSVE QPQPPPPPPE EPGAPAPSPA AADKRPRGRP RKDGASPFQR ARKKPRSRGK
    61  TAVEDEDSMD GLETTETETI VETEIKEQSA EEDAEAEVDN SKQLIPTLQR SVSEESANSL
   121  VSVGVEAKIS EQLCAFCYCG EKSSLGQGDL KQFRITPGFI LPWRNQPSNK KDIDDNSNGT
   181  YEKMQNSAPR KQRGQRKERS PQQNIVSCVS VSTQTASDDQ AGKLWDELSL VGLPDAIDIQ
   241  ALFDSTGTCW AHHRCVEWSL GVCQMEEPLL VNVDKAVVSG STERCAFCKH LGATIKCCEE
   301  KCTQMYHYPC AAGAGTFQDF SHIFLLCPEH IDQAPERSKE DANCAVCDSP GDLLDQFFCT
   361  TCGQHYHGMC LDIAVTPLKR AGWQCPECKV CQNCKQSGED SKMLVCDTCD KGYHTFCLQP
   421  VMKSVPTNGW KCKNCRICIE CGTRSSSQWH HNCLICDNCY QQQDNLCPFC GKCYHPELQK
   481  DMLHCNMCKR WVHLECDKPT DHELDTQLKE EYICMYCKHL GAEMDRLQPG EEVEIAELTT
   541  DYNNEMEVEG PEDQMVFSEQ AANKDVNGQE STPGIVPDAV QVHTEEQQKS HPSESLDTDS
   601  LLIAVSSQHT VNTELEKQIS NEVDSEDLKM SSEVKHICGE DQIEDKMEVT ENIEVVTHQI
   661  TVQQEQLQLL EEPETVVSRE ESRPPKLVME SVTLPLETLV SPHEESISLC PEEQLVIERL
   721  QGEKEQKENS ELSTGLMDSE MTPTIEGCVK DVSYQGGKSI KLSSETESSF SSSADISKAD
   781  VSSSPTPSSD LPSHDMLHNY PSALSSSAGN IMPTTYISVT PKIGMGKPAI TKRKFSPGRP
   841  RSKQGAWSTH NTVSPPSWSP DISEGREIFK PRQLPGSAIW SIKVGRGSGF PGKRRPRGAG
   901  LSGRGGRGRS KLKSGIGAVV LPGVSTADIS SNKDDEENSM HNTVVLFSSS DKFTLNQDMC
   961  VVCGSFGQGA EGRLLACSQC GQCYHPYCVS IKITKVVLSK GWRCLECTVC EACGKATDPG
  1021  RLLLCDDCDI SYHTYCLDPP LQTVPKGGWK CKWCVWCRHC GATSAGLRCE WQNNYTQCAP
  1081  CASLSSCPVC YRNYREEDLI LQCRQCDRWM HAVCQNLNTE EEVENVADIG FDCSMCRPYM
  1141  PASNVPSSDC CESSLVAQIV TKVKELDPPK TYTQDGVCLT ESGMTQLQSL TVTVPRRKRS
  1201  KPKLKLKIIN QNSVAVLQTP PDIQSEHSRD GEMDDSREGE LMDCDGKSES SPEREAVDDE
  1261  TKGVEGTDGV KKRKRKPYRP GIGGFMVRQR SRTGQGKTKR SVIRKDSSGS ISEQLPCRDD
  1321  GWSEQLPDTL VDESVSVTES TEKIKKRYRK RKNKLEETFP AYLQEAFFGK DLLDTSRQSK
  1381  ISLDNLSEDG AQLLYKTNMN TGFLDPSLDP LLSSSSAPTK SGTHGPADDP LADISEVLNT
  1441  DDDILGIISD DLAKSVDHSD IGPVTDDPSS LPQPNVNQSS RPLSEEQLDG ILSPELDKMV
  1501  TDGAILGKLY KIPELGGKDV EDLFTAVLSP ANTQPTPLPQ PPPPTQLLPI HNQDAFSRMP
  1561  LMNGLIGSSP HLPHNSLPPG SGLGTFSAIA QSSYPDARDK NSAFNPMASD PNNSWTSSAP
  1621  TVEGENDTMS NAQRSTLKWE KEEALGEMAT VAPVLYTNIN FPNLKEEFPD WTTRVKQIAK
  1681  LWRKASSQER APYVQKARDN RAALRINKVQ MSNDSMKRQQ QQDSIDPSSR IDSELFKDPL
  1741  KQRESEHEQE WKFRQQMRQK SKQQAKIEAT QKLEQVKNEQ QQQQQQQFGS QHLLVQSGSD
  1801  TPSSGIQSPL TPQPGNGNMS PAQSFHKELF TKQPPSTPTS TSSDDVFVKP QAPPPPPAPS
  1861  RIPIQDSLSQ AQTSQPPSPQ VFSPGSSNSR PPSPMDPYAK MVGTPRPPPV GHSFSRRNSA
  1921  APVENCTPLS SVSRPLQMNE TTANRPSPVR DLCSSSTTNN DPYAKPPDTP RPVMTDQFPK
  1981  SLGLSRSPVV SEQTAKGPIA AGTSDHFTKP SPRADVFQRQ RIPDSYARPL LTPAPLDSGP
  2041  GPFKTPMQPP PSSQDPYGSV SQASRRLSVD PYERPALTPR PIDNFSHNQS NDPYSQPPLT
  2101  PHPAVNESFA HPSRAFSQPG TISRPTSQDP YSQPPGTPRP VVDSYSQSSG TARSNTDPYS
  2161  QPPGTPRPTT VDPYSQQPQT PRPSTQTDLF VTPVTNQRHS DPYAHPPGTP RPGISVPYSQ
  2221  PPATPRPRIS EGFTRSSMTR PVLMPNQDPF LQAAQNRGPA LPGPLVRPPD TCSQTPRPPG
  2281  PGLSDTFSRV SPSAARDPYD QSPMTPRSQS DSFGTSQTAH DVADQPRPGS EGSFCASSNS
  2341  PMHSQGQQFS GVSQLPGPVP TSGVTDTQNT VNMAQADTEK LRQRQKLREI ILQQQQQKKI
  2401  AGRQEKGSQD SPAVPHPGPL QHWQPENVNQ AFTRPPPPYP GNIRSPVAPP LGPRYAVFPK
  2461  DQRGPYPPDV ASMGMRPHGF RFGFPGGSHG TMPSQERFLV PPQQIQGSGV SPQLRRSVSV
  2521  DMPRPLNNSQ MNNPVGLPQH FSPQSLPVQQ HNILGQAYIE LRHRAPDGRQ RLPFSAPPGS
  2581  VVEASSNLRH GNFIPRPDFP GPRHTDPMRR PPQGLPNQLP VHPDLEQVPP SQQEQGHSVH
  2641  SSSMVMRTLN HPLGGEFSEA PLSTSVPSET TSDNLQITTQ PSDGLEEKLD SDDPSVKELD
  2701  VKDLEGVEVK DLDDEDLENL NLDTEDGKVV ELDTLDNLET NDPNLDDLLR SGEFDIIAYT
  2761  DPELDMGDKK SMFNEELDLP IDDKLDNQCV SVEPKKKEQE NKTLVLSDKH SPQKKSTVTN
  2821  EVKTEVLSPN SKVESKCETE KNDENKDNVD TPCSQASAHS DLNDGEKTSL HPCDPDLFEK
  2881  RTNRETAGPS ANVIQASTQL PAQDVINSCG ITGSTPVLSS LLANEKSDNS DIRPSGSPPP
  2941  PTLPASPSNH VSSLPPFIAP PGRVLDNAMN SNVTVVSRVN HVFSQGVQVN PGLIPGQSTV
  3001  NHSLGTGKPA TQTGPQTSQS GTSSMSGPQQ LMIPQTLAQQ NRERPLLLEE QPLLLQDLLD
  3061  QERQEQQQQR QMQAMIRQRS EPFFPNIDFD AITDPIMKAK MVALKGINKV MAQNNLGMPP
  3121  MVMSRFPFMG QVVTGTQNSE GQNLGPQAIP QDGSITHQIS RPNPPNFGPG FVNDSQRKQY
  3181  EEWLQETQQL LQMQQKYLEE QIGAHRKSKK ALSAKQRTAK KAGREFPEED AEQLKHVTEQ
  3241  QSMVQKQLEQ IRKQQKEHAE LIEDYRIKQQ QQCAMAPPTM MPSVQPQPPL IPGATPPTMS
  3301  QPTFPMVPQQ LQHQQHTTVI SGHTSPVRMP SLPGWQPNSA PAHLPLNPPR IQPPIAQLPI
  3361  KTCTPAPGTV SNANPQSGPP PRVEFDDNNP FSESFQERER KERLREQQER QRIQLMQEVD
  3421  RQRALQQRME MEQHGMVGSE ISSSRTSVSQ IPFYSSDLPC DFMQPLGPLQ QSPQHQQQMG
  3481  QVLQQQNIQQ GSINSPSTQT FMQTNERRQV GPPSFVPDSP SIPVGSPNFS SVKQGHGNLS
  3541  GTSFQQSPVR PSFTPALPAA PPVANSSLPC GQDSTITHGH SYPGSTQSLI QLYSDIIPEE
  3601  KGKKKRTRKK KRDDDAESTK APSTPHSDIT APPTPGISET TSTPAVSTPS ELPQQADQES
  3661  VEPVGPSTPN MAAGQLCTEL ENKLPNSDFS QATPNQQTYA NSEVDKLSME TPAKTEEIKL
  3721  EKAETESCPG QEEPKLEEQN GSKVEGNAVA CPVSSAQSPP HSAGAPAAKG DSGNELLKHL
  3781  LKNKKSSSLL NQKPEGSICS EDDCTKDNKL VEKQNPAEGL QTLGAQMQGG FGCGNQLPKT
  3841  DGGSETKKQR SKRTQRTGEK AAPRSKKRKK DEEEKQAMYS STDTFTHLKQ QNNLSNPPTP
  3901  PASLPPTPPP MACQKMANGF ATTEELAGKA GVLVSHEVTK TLGPKPFQLP FRPQDDLLAR
  3961  ALAQGPKTVD VPASLPTPPH NNQEELRIQD HCGDRDTPDS FVPSSSPESV VGVEVSRYPD
  4021  LSLVKEEPPE PVPSPIIPIL PSTAGKSSES RRNDIKTEPG TLYFASPFGP SPNGPRSGLI
  4081  SVAITLHPTA AENISSVVAA FSDLLHVRIP NSYEVSSAPD VPSMGLVSSH RINPGLEYRQ
  4141  HLLLRGPPPG SANPPRLVSS YRLKQPNVPF PPTSNGLSGY KDSSHGIAES AALRPQWCCH
  4201  CKVVILGSGV RKSFKDLTLL NKDSRESTKR VEKDIVFCSN NCFILYSSTA QAKNSENKES
  4261  IPSLPQSPMR ETPSKAFHQY SNNISTLDVH CLPQLPEKAS PPASPPIAFP PAFEAAQVEA
  4321  KPDELKVTVK LKPRLRAVHG GFEDCRPLNK KWRGMKWKKW SIHIVIPKGT FKPPCEDEID
  4381  EFLKKLGTSL KPDPVPKDYR KCCFCHEEGD GLTDGPARLL NLDLDLWVHL NCALWSTEVY
  4441  ETQAGALINV ELALRRGLQM KCVFCHKTGA TSGCHRFRCT NIYHFTCAIK AQCMFFKDKT
  4501  MLCPMHKPKG IHEQELSYFA VFRRVYVQRD EVRQIASIVQ RGERDHTFRV GSLIFHTIGQ
  4561  LLPQQMQAFH SPKALFPVGY EASRLYWSTR YANRRCRYLC SIEEKDGRPV FVIRIVEQGH
  4621  EDLVLSDISP KGVWDKILEP VACVRKKSEM LQLFPAYLKG EDLFGLTVSA VARIAESLPG
  4681  VEACENYTFR YGRNPLMELP LAVNPTGCAR SEPKMSAHVK RFVLRPHTLN STSTSKSFQS
  4741  TVTGELNAPY SKQFVHSKSS QYRKMKTEWK SNVYLARSRI QGLGLYAARD IEKHTMVIEY
  4801  IGTIIRNEVA NRKEKLYESQ NRGVYMFRMD NDHVIDATLT GGPARYINHS CAPNCVAEVV
  4861  TFERGHKIII SSSRRIQKGE ELCYDYKFDF EDDQHKIPCH CGAVNCRKWM N

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KMT2C can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0

Highest tissue expression

25 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KMT2C.

Disease | AllUniProt

Conditions KMT2C is implicated in, by any mechanism.

• Kleefstra syndrome 2 (KLEFS2) MIM:617768

Disease | GeneticClinVar

182 pathogenic / likely-pathogenic of 2,636 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Kleefstra syndrome 2
• KMT2C-related NDD
• Inborn genetic diseases
• KMT2C-related disorder
• Neoplasm

Disease | ImmuneIEDB

Conditions an epitope on KMT2C was assayed in.

• colorectal cancer T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.12

gnomAD pLI

1

gnomAD missense Z

2.14

DepMap mean gene effect

0.06

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• methylation
• positive regulation of transcription by RNA polymerase II

Molecular functions

• acyltransferase activity
• DNA binding
• histone H3K4 methyltransferase activity
• histone H3K4 monomethyltransferase activity
• histone methyltransferase activity
• RNA binding
• transcription coactivator activity
• zinc ion binding

Cellular components

• cytosol
• histone methyltransferase complex
• MLL3/4 complex
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• HMG-I/HMG-Y, DNA-binding, conserved site
• SET domain
• Zinc finger, RING-type
• Zinc finger, PHD-type
• Post-SET domain
• FY-rich, N-terminal
• FY-rich, C-terminal
• High mobility group box domain
• Zinc finger, FYVE/PHD-type
• Zinc finger, RING/FYVE/PHD-type
• Zinc finger, PHD-finger
• Extended PHD (ePHD) domain
• High mobility group box domain superfamily
• SET domain superfamily
• PHD-finger
• SET domain
• F/Y-rich N-terminus
• F/Y rich C-terminus
• PHD-like zinc-binding domain
• PHD-zinc-finger like domain
• HMT2C, PHD3
• KMT2C, ePHD1
• KMT2C, ePHD2
• KMT2C, PHD4 domain
• KMT2C, PHD2 domain
• KMT2C, PHD6 domain

KeywordsUniProt

• Acetylation
• Activator
• Acyltransferase
• Chromatin regulator
• Coiled coil
• DNA-binding
• Intellectual disability
• Lipoprotein
• Metal-binding
• Methylation
• Methyltransferase
• Nucleus
• Palmitate
• Phosphoprotein
• Repeat
• S-adenosyl-L-methionine
• Transcription
• Transcription regulation
• Transferase
• Zinc
• Zinc-finger

InteractionsUniProt · HPA

Protein binding partners of KMT2C in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ASH2L
• DYNLL1
• DYNLL2
• NCOA6
• RBBP5
• WDR5