GenTIGSA Gene Database on Rare Genetic Disorders

Troponin T2, cardiac type (TNNT2) Associated conditions:  1. Restrictive cardiomyopathy  2. Dilated cardiomyopathy 1DD 
mRNA Information: Transcript Variants and Protein Isoforms
SNo. Status mRNA accession Protein accession Genomic DNA accession (Chromosome) mRNA location on genomic DNA Assembly UniProtkb ID
1 REVIEWED NM_000364.4 NP_000355.2 NC_000001.11 (201359013..201377679, complement) Reference GRCh38.p14 Primary Assembly P45379
2 REVIEWED NM_001001430.3 NP_001001430.1 NC_000001.11 (201359013..201377679, complement) Reference GRCh38.p14 Primary Assembly P45379
3 REVIEWED NM_001001431.3 NP_001001431.1 NC_000001.11 (201359013..201377679, complement) Reference GRCh38.p14 Primary Assembly P45379
4 REVIEWED NM_001001432.3 NP_001001432.1 NC_000001.11 (201359013..201377679, complement) Reference GRCh38.p14 Primary Assembly P45379
5 REVIEWED NM_001276345.2 NP_001263274.1 NC_000001.11 (201359013..201377679, complement) Reference GRCh38.p14 Primary Assembly P45379
6 REVIEWED NM_001276346.2 NP_001263275.1 NC_000001.11 (201359013..201377679, complement) Reference GRCh38.p14 Primary Assembly P45379
7 REVIEWED NM_001276347.2 NP_001263276.1 NC_000001.11 (201359013..201377679, complement) Reference GRCh38.p14 Primary Assembly P45379
8 REVIEWED NM_001406723.1 NP_001393652.1 NC_000001.11 (201359013..201377679, complement) Reference GRCh38.p14 Primary Assembly P45379
9 REVIEWED NM_001406724.1 NP_001393653.1 NC_000001.11 (201359013..201377679, complement) Reference GRCh38.p14 Primary Assembly P45379
10 REVIEWED NM_001406725.1 NP_001393654.1 NC_000001.11 (201359013..201377679, complement) Reference GRCh38.p14 Primary Assembly P45379
11 REVIEWED NM_001406726.1 NP_001393655.1 NC_000001.11 (201359013..201377679, complement) Reference GRCh38.p14 Primary Assembly P45379
12 REVIEWED NM_001406727.1 NP_001393656.1 NC_000001.11 (201359013..201377679, complement) Reference GRCh38.p14 Primary Assembly P45379
13 REVIEWED NM_001406728.1 NP_001393657.1 NC_000001.11 (201359013..201377679, complement) Reference GRCh38.p14 Primary Assembly P45379

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)
Link 1448 reference articles

Variant Information Troponin T2, cardiac type (TNNT2) Mutation Visualization Dashboard: Pathogenic variant distribution chart
ClinVar variants:Revealing mutagenic patterns

GO Term of Troponin T2, cardiac type (TNNT2)
SNo. Reported in speceis Evidence Qualifier GO term Category Pubmed Link
1Homo sapiensIDAcontributes_tomicrofilament motor activityFunction2530435 12093807 
2Homo sapiensIDAenablesactin bindingFunction8205619 
3Homo sapiensIPIenablesprotein bindingFunction25416956 32296183 
4Homo sapiensIBAenablestropomyosin bindingFunction- 
5Homo sapiensIDAenablestropomyosin bindingFunction10850966 
6Homo sapiensIEAenablestropomyosin bindingFunction- 
7Homo sapiensTASlocated_incytosolComponent- 
8Homo sapiensIBApart_oftroponin complexComponent- 
9Homo sapiensIDApart_oftroponin complexComponent2530435 12093807 12186860 
10Homo sapiensIEApart_oftroponin complexComponent- 
11Homo sapiensIDAlocated_instriated muscle thin filamentComponent12186860 
12Homo sapiensIEAinvolved_inregulation of muscle contractionProcess- 
13Homo sapiensIEAinvolved_instriated muscle contractionProcess- 
14Homo sapiensIMPinvolved_inregulation of heart contractionProcess15542288 
15Homo sapiensNASlocated_insarcomereComponent12840750 
16Homo sapiensTASlocated_insarcomereComponent16754800 
17Homo sapiensIDAinvolved_inmuscle filament slidingProcess12186860 15923195 
18Homo sapiensNASinvolved_inmuscle filament slidingProcess12840750 
19Homo sapiensIBAenablestroponin C bindingFunction- 
20Homo sapiensIEAenablestroponin C bindingFunction- 
21Homo sapiensIPIenablestroponin C bindingFunction8205619 15542288 
22Homo sapiensIBAenablestroponin I bindingFunction- 
23Homo sapiensIEAenablestroponin I bindingFunction- 
24Homo sapiensIPIenablestroponin I bindingFunction15542288 
25Homo sapiensIDAinvolved_innegative regulation of ATP-dependent activityProcess10850966 12093807 
26Homo sapiensNASinvolved_innegative regulation of ATP-dependent activityProcess12840750 
27Homo sapiensIDAinvolved_inpositive regulation of ATP-dependent activityProcess10850966 12186860 
28Homo sapiensIPIenablesidentical protein bindingFunction32296183 
29Homo sapiensIBAinvolved_insarcomere organizationProcess- 
30Homo sapiensIDAinvolved_inresponse to calcium ionProcess2530435 
31Homo sapiensIMPinvolved_inresponse to calcium ionProcess8205619 
32Homo sapiensIMPinvolved_inventricular cardiac muscle tissue morphogenesisProcess16754800 
33Homo sapiensIBAinvolved_incardiac muscle contractionProcess- 
34Homo sapiensIDAinvolved_incardiac muscle contractionProcess25771144 
35Homo sapiensNASinvolved_incardiac muscle contractionProcess12840750 
36Homo sapiensIDAlocated_incardiac myofibrilComponent25771144 
37Homo sapiensIDApart_ofcardiac Troponin complexComponent25771144