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FLASH GENE

Symbol

CALM2

contributors: mct - updated : 14-05-2019

HGNC name	calmodulin 2 (phosphorylase kinase, delta)
HGNC id	1445

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	LQT15 long QT syndrome 15
Location	2p21      Physical location : 47.387.220 - 47.403.740
Synonym name	LP7057 protein
Synonym symbol(s)	CLP, EVI78, PHKD, CAMII, PHKD2, CALM, CALML2, CAM1, CAM3, CAMC, CAMII, CAMIII, LQT15, caM, FLJ99410
EC.number	2.7.11.19

DNA

TYPE	functioning gene
STRUCTURE	16.85 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001743 6 - 1210 NP_001734 - 149 - 2016 27516456 NM_001305625 6 - 1236 NP_001292554 - 113 - 2016 27516456 NM_001305624 6 - 1377 NP_001292553 - 197 - - NM_001305626 6 - 4591 NP_001292553 - 197 - -

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 Digestive pharynx       highly   salivary gland       highly Endocrine neuroendocrine pituitary     highly Urinary bladder       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

two Eps15 homology domains with four EF-hand calcium binding domains

HOMOLOGY

Homologene

FAMILY

calmodulin family

CATEGORY

enzyme , regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
	intracellular,nucleus

basic FUNCTION	phosphorylase kinase, delta, calcium modulated protein
	mediates the control of a large number of enzymes and other proteins by Ca(2+)
	playing a crucial role in the processes of Ca(2+)-induced neuronal cell death and likely the blockage of calmodulin attenuates brain injury after cerebral ischemia

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	calcium Ca2+

protein	interacts with TTN/titin and SRY
	could regulate the intramolecular interaction between the SH3, HOOK, and GK domains of DLG1
	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)

LQT15

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   might represent an attempt by the placenta to compensate for elevations in intracellular calcium, possibly caused by hypoxia and/or apoptosis, in both pregnancies with uterine artery notching and preeclampsia

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed digestive liver   CALM2 may serve as novel targets for the treatment of liver fibrosis

ANIMAL & CELL MODELS