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FLASH GENE

Symbol

TPM3

contributors: mct/npt - updated : 30-05-2018

HGNC name	tropomyosin 3
HGNC id	12012

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CFTD3 congenital fibre type disproportion 3 NEM1 nemaline myopathy 1
Location	1q21.3      Physical location : 154.127.779 - 154.164.609
Synonym name	non muscle tropomyosin 5
	tropomyosin gamma
	cytoskeletal tropomyosin TM30
	heat-stable cytoskeletal protein 30 kDa
	tropomyosin alpha-3 chain
	epididymis luminal protein 189
	epididymis secretory sperm binding protein Li 82p
Synonym symbol(s)	TRK, TC22, MGC14582, MGC3261, MGC72094, FLJ41118, TM-5, TM3, TM30, TM30nm, hscp30, Tm5NM-1

DNA

TYPE	functioning gene
STRUCTURE	36.83 kb     10 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

text structure

one alternative non muscle form lacking 2 exon

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed TC22 - splicing - - - colon cancer cells and polyps with mild and severe dyasplasia 2015 25369766 NM_001043353 8 - 4539 NP_001036818 28.8 247 - 2015 25369766 NM_001043351 8 - 3212 NP_001036816 28.9 248 - 2015 25369766 NM_001278190 7 - 3149 NP_001265119 - 227 - 2015 25369766 NM_001349679 9 - 3291 NP_001336608 - 248 - 2015 25369766 NM_152263 10 - 7109 NP_689476 32.8 285 - 2015 25369766 NM_001278188 7 - 3078 NP_001265117 - 182 - 2015 25369766 NM_153649 8 - 3212 NP_705935 - 248 - 2015 25369766 NM_001043352 8 - 4539 NP_001036817 - 247 - 2015 25369766 NM_001278189 9 - 3291 NP_001265118 - 248 - 2015 25369766 NM_001278191 8 - 3058 NP_001265120 - 158 - 2015 25369766

EXPRESSION

Type

widely

constitutive of

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 Reproductive male system prostate     highly Respiratory respiratory tract larynx     highly Visual eye anterior segment cornea

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

dimer

HOMOLOGY

Homologene

FAMILY

tropomyosin family

CATEGORY

motor/contractile

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microfilament

basic FUNCTION	playing a central role in association with the troponin complex, in the calcium dependent regulation of vertebrate striated
	having functions in regulating cell motility and in modulating the anti-angiogenic activity of cleaved high molecular weight kininogen (HKa)(Jin 2008)
	promotes the formation of filopodia by regulating the recruitment of actin-binding proteins to actin filaments
	its expression has an important role in temporal regulation of cell migration during wound healing
	plays crucial roles in maintaining cortical actin integrity and asymmetric cell division during oocyte maturation, and dynamic regulation of cortical actin by TPM3 is critical to ensure proper polar body protrusion

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	slow type I muscle fibers

PATHWAY

metabolism

signaling

a component

dimerizing to form a helical coiled coil constituent binding to actin in the troponin complex (thin filamant) that regulates calcium-dependent binding of actin and myosin and muscle contraction

INTERACTION

DNA

RNA

small molecule

protein	ACTA1 and TNNT1 and ultimatily regulating the development of muscle contraction
	TTC9 interacts specifically with actin-binding protein tropomyosin TPM3 which stabilizes actin filament and focal adhesion

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NEM1 , CFTD3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       fusion with NTRK1 in papillary thyroid carcinoma, with ALK in anaplastic large cell lymphoma tumoral fusion       with PDGFRB in chronic eosinophilic leukemia (Rosati 2006) tumoral     --over   may be important in esophageal squamous cell carcinoma (ESCC) invasion and metastasis (pMID: 28138712) constitutional   deletion     cause a hypercontractile congenital muscle stiffness phenotype tumoral fusion       TPM3-ALK fusion gene, is the main causes of Inflammatory myofibroblastic tumor (IMT)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	serum anti-TPM3, anti-TMOD3, anti-STOML2 could be new markers for the early diagnosis of endometriosis
Therapy target
	System Type Disorder Pubmed neuromuscular myopathy congenital administration of troponin activators may constitute a promising therapeutic approach to minimize generalized skeletal muscle weakness in Nemaline myopathy

ANIMAL & CELL MODELS

Tm slow (Met 9Arg) mice