Skip to content
GenoLensGenoLens

KMT2C

Chr 7q36.1

lysine methyltransferase 2C

Aliases:
KIAA1506, HALR
MANE:
ENST00000262189.11
OMIM: 606833 ↗NCBI: 58508 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • Kleefstra syndrome 2

    0.77

  • prostate adenocarcinoma

    0.63

  • Intellectual disability

    0.60

  • medulloblastoma

    0.58

  • cervical squamous cell carcinoma

    0.56

  • breast adenocarcinoma

    0.55

  • hereditary disease

    0.53

  • urinary bladder cancer

    0.51

  • pancreatic adenocarcinoma

    0.50

  • salivary gland carcinoma

    0.48

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Histone-lysine N-methyltransferase 2C

Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) (PubMed:25561738). Part of chromatin remodeling machinery predominantly forms H3K4me1 methylation marks at active chromatin sites where transcription and DNA repair take place (PubMed:22266653, PubMed:24081332, PubMed:25561738). Likely plays a redundant role with KMT2D in enriching H3K4me1 mark on primed and active enhancer elements (PubMed:24081332)

Diseases associated with KMT2C

Curated MONDO disease pages that list KMT2C among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.