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FLASH GENE

Symbol

TNNT2

contributors: mct/npt/pgu - updated : 23-08-2011

HGNC name	troponin T2, cardiac
HGNC id	11949

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMD1D cardiomyopathy, dilated 1D CMH2 cardiomyopathy, familial, hypertrophic, 2 RCM3 cardiomyopathy, familial restrictive 3
Location	1q32.1      Physical location : 201.328.142 - 201.346.805
Synonym symbol(s)	CMH2, CMPD2, MGC3889, TnTC, cTnT, fTnT

DNA

TYPE	functioning gene
STRUCTURE	18.66 kb     16 Exon(s)

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

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	alternative splicing resulting in the production of multiple tissue-specific isoforms

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000364 16 splicing 1153 NP_000355 - 295 - 2007 18037101 NM_001001430 16 splicing 1132 NP_001001430 - 288 - 2007 18037101 NM_001001431 15 splicing 1123 NP_001001431 - 285 - 2007 18037101 NM_001001432 15 splicing 1114 NP_001001432 - 282 - 2007 18037101

EXPRESSION

Type

widely

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 Digestive liver       moderately Endocrine adrenal gland       highly Respiratory respiratory tract larynx     highly Urinary kidney       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Muscular striatum cardiac

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	early fetal heart, which occurs at different times in atria and ventricles

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a highly conserved PKA docking site

HOMOLOGY

interspecies

ortholog to murine Tnnt2

Homologene

FAMILY

troponin T family

CATEGORY

motor/contractile , regulatory , structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton
text	sarcomeric protein

basic FUNCTION	involved in the attachment of the complex to tropomyosin and troponin I, for sarcomere assembly and cardiac contractility
	regulating striated muscle contraction in response to alterations in intracellular calcium concentration
	may be responsive to myocardial stress and its elevated levels may contribute to myocardial dysfunction in adult disease
	playing potentially a role in regulation of smooth muscle function
	novel role for TNNT2 as a dual-specificity sarcomeric AKAP (A-kinase anchoring protein)
	has an important role in regulating cardiac contractility
	plays a pivotal regulatory role in the Ca(2+)-mediated interaction between actin thin filament and myosin thick filament

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

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
	Troponin consists of three subunits: an inhibitory subunit TNNI2, a Ca2+-binding subunit TNNC2, and TNNT2
	complex with TPM1, TNNI3 within the sarcomere

INTERACTION

DNA

RNA

small molecule

protein	binding to TPM1 and TNNI3
	interacting with both PKA-regulatory subunits type I and II (PRKAR1A and PRKAR2A) at the myofilaments

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMD1D , CMH2 , RCM3

related resource

FHCMutationDatabase

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in end-stage heart failure constitutional     --over   of TNNT2 and NPPB are associated with increased risk of cardioembolic and other nonlacunar ischemic strokes

Susceptibility

to prominent left ventricular hypertrophy to idiopathic dilated cardiomyopathy

Variant & Polymorphism insertion/deletion	five-base pair insertion/deletion polymorphism in intron 3, associated to prominent left ventricular hypertrophy
	mutated in idiopathic dilated cardiomyopathy

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

iIn mice, targeted disruption of Tnnt2 causes severe defects of myofibrillogenesis, which leads to early embryonic demise