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FLASH GENE

Symbol

TNNT3

contributors: mct - updated : 12-04-2014

HGNC name	troponin T type 3 (skeletal, fast)
HGNC id	11950

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AMCD2B arthrogryposis multiplex congenita, distal, type IIB
Location	11p15.5      Physical location : 1.940.798 - 1.959.935
Synonym name	troponin T3, skeletal, fast
	beta TnTF
Synonym symbol(s)	TNTF, AMCD2B, DA2B, FSSV, DKFZp779M2348, ftnt, TNT3

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
text	downstream and in tandem with TNNT1
STRUCTURE	19.14 kb     16 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	64 isoforms generated by a combinatorial splicing involving exons 4-8

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006757 16 - 1217 NP_006748 30.5 258 - 1999 1036420 NM_001042782 15 - 1193 NP_001036247 29.6 250 - 1999 1036420 NM_001042781 16 - 1211 NP_001036246 30.2 256 - 1999 1036420 NM_001042780 15 - 1193 NP_001036245 29.6 250 - 1999 1036420

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular smooth     specific Homo sapiens Muscular striatum cardiac   specific Homo sapiens Muscular striatum skeletal   specific Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	highly in fast skeletal muscles

PROTEIN

PHYSICAL PROPERTIES		Hydrophilic
STRUCTURE

motifs/domains	both a nuclear localization signal
	and a DNA-binding domain, which may mediate nuclear/nucleolar signaling and muscle cell apoptosis

conjugated

PhosphoP

HOMOLOGY

interspecies	ortholog to murine Tnnt3
	homolog to C.elegans Y49F6B.2

Homologene

FAMILY

troponin T family

CATEGORY

motor/contractile , regulatory , structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton

basic FUNCTION	involved in the attachment of the complex to tropomyosin and troponin I
	involved in the regulation of striated muscle contraction

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development , locomotion

text	fast skeletal muscles development

PATHWAY

metabolism

signaling

a component

constituent of the troponin complex forming the calcium-sensitive molecular switch that regulates striated muscle contraction in response to modifications in intracellular concentration

INTERACTION

DNA

RNA

small molecule

protein

binding to tropomyosin

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AMCD2B

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	aberrant TNNT3 represents a biological marker of muscle phenotype severity and disease progressionin FSHMD1A
Therapy target

ANIMAL & CELL MODELS