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FLASH GENE

Symbol

MYL9

contributors: mct/npt/pgu - updated : 24-06-2009

HGNC name	myosin, light chain 9, regulatory
HGNC id	15754

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	20q11.23      Physical location : 35.169.896 - 35.178.226
Synonym name	myosin, light polypeptide 9, regulatory
	myosin regulatory light chain 2, smooth muscle isoform
	myosin regulatory light chain 1
Synonym symbol(s)	MLC2, MYRL2, MLRN, LC20, MRLC1, MGC3505, MLC-2C, MLC20

DNA

TYPE	functioning gene
STRUCTURE	8.33 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 4 - 1212 isoform a 19.7 172 - 2001 11780052 variant 2 3 - 1044 isoform b 13.7 118 - 2001 11780052

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       highly Reproductive male system prostate     highly Visual eye uvea         eye lacrimal gland

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly Connective cartilage       Epithelial secretory glandular     Epithelial sensory visual

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

hexamer

HOMOLOGY

Homologene

FAMILY

CATEGORY

regulatory , structural protein

SUBCELLULAR LOCALIZATION

basic FUNCTION	may be regulating ATPase activity of myosin heads
	playing an important role in regulation of both smooth muscle and nonmuscle cell contractile activity
	required for invasion and lung colonization

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Ca2+

protein	interacting with PNKD
	transcriptional target of RUNX1, providing a mechanism for decreased platelet MYL9 expression, myosin light chainphosphorylation, thrombocytopenia, and platelet dysfunction associated with RUNX1 mutations

cell & other

REGULATION

Other

its phosphorylation is involved in uterine contractions (are mainly regulated by phosphorylation of MYL9 by Ca2+/calmodulin-dependent myosin light chain kinase)

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in thrombocytopenia

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS