TNNT2

Protein identityUniProt · HPA

UniProt accession

P45379

Gene

TNNT2

Ensembl

ENSG00000118194

Chromosome

1

Canonical length

298 aa

Protein class

Candidate cardiovascular disease genes, Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nucleoli,Focal adhesion sites,Microtubules

OverviewNCBI Gene

This gene encodes the cardiac isoform of troponin T. The encoded protein is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. [provided by RefSeq, May 2022]

Canonical amino-acid sequenceUniProt

298 residues, UniProt reviewed canonical sequence.

>P45379|TNNT2
     1  MSDIEEVVEE YEEEEQEEAA VEEEEDWRED EDEQEEAAEE DAEAEAETEE TRAEEDEEEE
    61  EAKEAEDGPM EESKPKPRSF MPNLVPPKIP DGERVDFDDI HRKRMEKDLN ELQALIEAHF
   121  ENRKKEEEEL VSLKDRIERR RAERAEQQRI RNEREKERQN RLAEERARRE EEENRRKAED
   181  EARKKKALSN MMHFGGYIQK QAQTERKSGK RQTEREKKKK ILAERRKVLA IDHLNEDQLR
   241  EKAKELWQSI YNLEAEKFDL QEKFKQQKYE INVLRNRIND NQKVSKTRGK AKVTGRWK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TNNT2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.54

Highest tissue expression

8,732 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TNNT2.

Disease | AllUniProt

Conditions TNNT2 is implicated in, by any mechanism.

• Cardiomyopathy, familial hypertrophic, 2 (CMH2) MIM:115195
• Cardiomyopathy, dilated, 1D (CMD1D) MIM:601494
• Cardiomyopathy, familial restrictive 3 (RCM3) MIM:612422

Disease | GeneticClinVar

66 pathogenic / likely-pathogenic of 1,146 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hypertrophic cardiomyopathy 2
• Dilated cardiomyopathy 1D
• Cardiomyopathy, familial restrictive, 3
• Hypertrophic cardiomyopathy
• Cardiovascular phenotype

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.64

gnomAD pLI

0

gnomAD missense Z

1.19

DepMap mean gene effect

-0.23

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cardiac muscle contraction
• muscle filament sliding
• negative regulation of ATP-dependent activity
• positive regulation of ATP-dependent activity
• regulation of heart contraction
• regulation of muscle contraction
• response to calcium ion
• sarcomere organization
• ventricular cardiac muscle tissue morphogenesis

Molecular functions

• actin binding
• identical protein binding
• tropomyosin binding
• troponin C binding
• troponin I binding

Cellular components

• cardiac myofibril
• cardiac Troponin complex
• cytosol
• sarcomere
• striated muscle thin filament
• troponin complex

Protein domainsUniProt · Pfam · InterPro

• Troponin
• Troponin T
• Troponin domain superfamily
• Troponin

KeywordsUniProt

• Acetylation
• Cardiomyopathy
• Muscle protein
• Phosphoprotein