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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

Corresponding disease	LQT16 long QT syndrome 16
Location	19q13.32      Physical location : 47.104.511 - 47.114.038
Synonym symbol(s)	PHKD, PHKD3, CALM, CAM1, CAM2, CAMB, CaM, CaMIII, HEL-S-72, PHKD3
EC.number	2.7.11.19

DNA

TYPE	functioning gene
STRUCTURE	9.71 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001329921 6 - 2179 NP_001316850 - 113 - 2016 27516456 NM_005184 6 - 2382 NP_005175 - 149 - 2017 28765142 CALM3L, with retained intron in the 3prime-UTR retained intron is a critical element in recruiting STAU2, which then allows for the localization of CALM3L mRNA to distal dendrites NM_001329924 6 - 2374 NP_001316853 - 113 - 2016 27516456 NM_001329926 6 - 2368 NP_001316855 - 113 - 2016 27516456 NM_001329925 5 - 2345 NP_001316854 - 113 - 2016 27516456

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Homo sapiens Digestive intestine small intestine     highly Nervous brain hindbrain cerebellum   highly Homo sapiens Fetal Reproductive female system uterus     highly Urinary bladder       highly

cells

System Cell Pubmed Species Stage Rna symbol Muscular myocyte Homo sapiens Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two Eps15 homology domains
	four EF-hand calcium binding domains
	four functional calcium-binding sites

HOMOLOGY

interspecies

intraspecies

homolog to CALM1, CALM2

Homologene

FAMILY

CATEGORY

enzyme , regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	phosphorylase kinase, delta
	calcium modulated protein
	mediating the control of a large number of enzymes by Ca(2+), protein kinases and phosphatases
	EGFR, CALM3 and SMARCD1 play roles in bone and/or fat metabolism

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	calcium Ca2+

protein

interaction between RAB3B and calmodulin, Ca(2+)-dependent (RAB3B is primarily localized with the particulate fraction and Ca(2+)/calmodulin could regulate function of this GTPase in the platelet)

cell & other

REGULATION

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