TNNT2 |
- 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)