CAMKMT |
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)