Entity Details

Primary name KMT2C_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8NEZ4
EntryNameKMT2C_HUMAN
FullNameHistone-lysine N-methyltransferase 2C
TaxID9606
Evidenceevidence at protein level
Length4911
SequenceStatuscomplete
DateCreated2003-10-10
DateModified2021-06-02

Ontological Relatives

GenesKMT2C

GO terms

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GOName
GO:0003677 DNA binding
GO:0003713 transcription coactivator activity
GO:0003723 RNA binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0016746 acyltransferase activity
GO:0035097 histone methyltransferase complex
GO:0042054 histone methyltransferase activity
GO:0042393 histone binding
GO:0042800 histone methyltransferase activity (H3-K4 specific)
GO:0044666 MLL3/4 complex
GO:0045652 regulation of megakaryocyte differentiation
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046872 metal ion binding
GO:0097692 histone H3-K4 monomethylation

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR000637 HMG-I/HMG-Y, DNA-binding, conserved siteSiteConserved site
IPR001214 SET domainDomainDomain
IPR001841 Zinc finger, RING-typeDomainDomain
IPR001965 Zinc finger, PHD-typeDomainDomain
IPR003616 Post-SET domainDomainDomain
IPR003888 FY-rich, N-terminalDomainDomain
IPR003889 FY-rich, C-terminalDomainDomain
IPR009071 High mobility group box domainDomainDomain
IPR011011 Zinc finger, FYVE/PHD-typeFamilyHomologous superfamily
IPR013083 Zinc finger, RING/FYVE/PHD-typeFamilyHomologous superfamily
IPR019787 Zinc finger, PHD-fingerDomainDomain
IPR034732 Extended PHD (ePHD) domainDomainDomain
IPR036910 High mobility group box domain superfamilyFamilyHomologous superfamily
IPR037877 Histone-lysine N-methyltransferase 2CFamilyFamily
IPR041967 KMT2C, ePHD1DomainDomain
IPR041968 KMT2C, ePHD2DomainDomain

Diseases

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Disease IDSourceNameDescription
617768 OMIMKleefstra syndrome 2 (KLEFS2)A form of Kleefstra syndrome, an autosomal dominant disease characterized by variable mental retardation, psychomotor developmental delay, seizures, behavioral abnormalities, and facial dysmorphisms. The disease is caused by variants affecting the gene represented in this entry.

Interactions

25 interactions

InteractorPartnerSourcesPublicationsLink
KMT2C_HUMANJUN_HUMANBioGRID, IntAct20936779 details
KMT2C_HUMANMK14_HUMANBioGRID, IntAct20936779 details
KMT2C_HUMANASH2L_HUMANBioGRID, DIP, IntAct, MINT, UniProt12482968 17500065 20305087 23870121 24981860 26324722 26886794 27563068 30604749 34079125 details
KMT2C_HUMANRBBP5_HUMANBioGRID, DIP, UniProt12482968 17500065 24981860 26324722 26886794 27563068 29785026 30604749 31076518 details
KMT2C_HUMANT22D1_HUMANBioGRID, MINT21900206 details
KMT2C_HUMANWDR5_HUMANBioGRID, IntAct, MINT, UniProt17500065 22266653 22665483 24981860 26324722 27563068 27705803 30604749 details
KMT2C_HUMANDP13B_HUMANBioGRID, IntAct25814554 details
KMT2C_HUMANMTR1B_HUMANBioGRID, IntAct26514267 details
KMT2C_HUMANWLS_HUMANUniProt28734904 details
KMT2C_HUMANDPY30_HUMANBioGRID, DIP24981860 26324722 31485071 details
KMT2C_HUMANH32_HUMANBioGRID12482968 22266653 details
KMT2C_HUMANSNF5_HUMANBioGRID19221051 details
KMT2C_HUMANH31_HUMANBioGRID23870121 details
KMT2C_HUMANH31T_HUMANBioGRID26324722 details
KMT2C_HUMANH4_HUMANBioGRID30604749 30804502 31127101 details
KMT2C_HUMANNCOA6_HUMANBioGRID, DIP, IntAct, UniProt12482968 17021013 19047629 19433796 23870121 24981860 details
KMT2C_HUMANPAXI1_HUMANBioGRID, UniProt17500065 17925232 24981860 details
KMT2C_HUMANKDM6A_HUMANBioGRID, MINT17761849 24981860 29785026 details
KMT2C_HUMANASCL2_HUMANBioGRID12482968 details
KMT2C_HUMANH33_HUMANBioGRID17403666 details
KMT2C_HUMANWDR82_HUMANBioGRID20516061 details
KMT2C_HUMANKDM4B_HUMANBioGRID21502505 details
KMT2C_HUMANFOXA1_HUMANBioGRID27926873 details
KMT2C_HUMANASXL2_HUMANBioGRID29785026 details
KMT2C_HUMANBAP1_HUMANBioGRID29785026 details