Gene Facts External Data Attribution

HGNC Symbol
CAMKMT (HGNC:26276) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
calmodulin-lysine N-methyltransferase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
C2orf34
Alias symbols
CLNMT
%HI
16.48(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.52(Read more about gnomAD LOEUF score)
Cytoband
2p21
Genomic Coordinates
GRCh37/hg19: chr2:44589086-44999731 NCBI Ensembl UCSC
GRCh38/hg38: chr2:44361947-44772592 NCBI Ensembl UCSC
MANE Select Transcript
NM_024766.5 ENST00000378494.8 (Read more about MANE Select)
Function
Catalyzes the trimethylation of 'Lys-116' in calmodulin. {ECO:0000269|PubMed:20975703}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-19054
Curation Status:
Awaiting Review
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Awaiting Review
Triplosensitivity:
Awaiting Review
Last Evaluated:
Awaiting Review

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)