Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

CALM3

contributors: mct - updated : 10-05-2019

HGNC name	calmodulin 3 (phosphorylase kinase, delta)
HGNC id	1449

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

LQT16

Susceptibility

to variations in the BMD of the hip, spine and femoral neck to hypertrophic (HCM) and dilated cardiomyopathies (DCM) to familial hypertrophic cardiomyopathy (FHC)

Variant & Polymorphism other	SNP rs12461917, and rs11083838 in the 3'-flanking region of the CALM3 in Caucasian women may contribute to variations in the BMD of the hip, spine and femoral neck
	-34T>A CALM3 polymorphism is a modifier gene for FHC, potentially by affecting expression level of CALM3 and therefore Ca(2+)-handling and development of hypertrophy
	polymorphisms are associated with increased risk of HCM and DCM and may act as disease modifier

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS