TPM1 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- TPM1 (HGNC:12010) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- tropomyosin 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- C15orf13, CMH3
- Alias symbols
- No aliases found
- %HI
- 1.5(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.78(Read more about gnomAD LOEUF score)
- Cytoband
- 15q22.2
- Genomic Coordinates
-
GRCh37/hg19: chr15:63334946-63364114 NCBI Ensembl UCSC GRCh38/hg38: chr15:63042747-63071915 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001018005.2 ENST00000403994.9 (Read more about MANE Select)
- Function
- Binds to actin filaments in muscle and non-muscle cells (PubMed:23170982). Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction (PubMed:23170982). Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-17814
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
11/09/2015
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000015.9)
(NC_000015.10)