KMT2D |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- KMT2D (HGNC:7133) HGNC Entrez Ensembl OMIM Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- lysine methyltransferase 2D
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- TNRC21, MLL2
- Alias symbols
- ALR, MLL4, CAGL114
- %HI
- 17.49(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.1(Read more about gnomAD LOEUF score)
- Cytoband
- 12q13.12
- Genomic Coordinates
-
GRCh37/hg19: chr12:49412761-49454577 NCBI Ensembl UCSC GRCh38/hg38: chr12:49018978-49060794 NCBI Ensembl UCSC - MANE Select Transcript
- NM_003482.4 ENST00000301067.12 (Read more about MANE Select)
- Function
- 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:25561738, PubMed:17500065). Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription (PubMed:16603732). {ECO:0000269|... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-21328
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency
(3)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
01/23/2020
Haploinsufficiency (HI) Score Details
HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency
(Disclaimer)
HI Disease:
- Kabuki Syndrome Monarch
HI Evidence:
-
PUBMED:
20711175
Ng et al. described ten patients with Kabuki syndrome and "de novo" LoF mutations in KMT2D gene.
-
PUBMED:
21671394
Hannibal et al. described 25 patients with Kabuki syndrome and "de novo" LoF mutations which were located all over KMT2D gene. The majority of variants found to cause Kabuki syndrome were novel nonsense or frameshift mutations.
-
PUBMED:
21607748
Li et al. described eleven patients with Kabuki syndrome and "de novo" LoF mutations at KMT2D gene: Three nonsense mutations, two splice-site mutations, six small deletions or insertions.
HI Evidence Comments:
Associated with Kabuki syndrome. A large number of truncating mutations scattered throughout the gene have been described in the literature (see HGMD). Mutation spectrum includes nonsense, splicing, indels, and frameshift changes, and intragenic exonic deletions. Since 2010, several individuals with KMT2D de novo LoF mutations were described (first time: PMID 20711175). More recent publications related to Kabuki syndrome and KMT2D are PMIDs 23535010; 27302555; 28295206; 30107592.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
Focal duplications involving KMT2D have not been described.
Genomic View
Select assembly:
(NC_000012.11)
(NC_000012.12)