• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TNNT2 (HGNC:11949) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
troponin T2, cardiac type
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
CMH2, CMD1D
Alias symbols
CMPD2
%HI
56.44(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.64(Read more about gnomAD LOEUF score)
Cytoband
1q32.1
Genomic Coordinates
GRCh37/hg19: chr1:201328142-201346808 NCBI Ensembl UCSC
GRCh38/hg38: chr1:201359014-201377680 NCBI Ensembl UCSC
MANE Select Transcript
NM_001276345.2 ENST00000656932.1 (Read more about MANE Select)
Function
Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-33455
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
11/16/2015

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Only missense mutations have been described in patients with Dilated cardiomyopathy (PMID:21483645, 20978592, 19666196, 24093860, 25110706). It is unknown if haploinsufficiency results in a phenotype. In 19666196, MLPA was used to screen TNNT2 for large rearrangements and none were found. There are a few isolated reports of splice site mutations and stop mutations but pathogenicity remains unproven.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)