KMT2D lysine methyltransferase 2D

Gene ID: 8085, updated on 5-Jan-2025
Gene type: protein coding
Also known as: ALR; KMS; MLL2; MLL4; AAD10; BCAHH; KABUK1; TNRC21; CAGL114

Summary

The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome MedGen: C5680310OMIM: 620186GeneReviews: Not available	See labs
Kabuki syndrome 1 MedGen: CN030661OMIM: 147920GeneReviews: Kabuki Syndrome	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2020-01-23) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-01-23) ClinGen Genome Curation PagePubMed

Genomic context

Location:: 12q13.12

Sequence:: Chromosome: 12; NC_000012.12 (49018978..49060794, complement)

Total number of exons:: 55

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for KMT2D variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
KMT2D database
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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