TACSTD2

  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TACSTD2 (HGNC:11530) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
tumor associated calcium signal transducer 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
M1S1
Alias symbols
TROP2, GA733-1, EGP-1
%HI
66.49(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.53(Read more about gnomAD LOEUF score)
Cytoband
1p32.1
Genomic Coordinates
GRCh37/hg19: chr1:59041105-59042924 NCBI Ensembl UCSC
GRCh38/hg38: chr1:58575433-58577252 NCBI Ensembl UCSC
MANE Select Transcript
NM_002353.3 ENST00000371225.4 (Read more about MANE Select)
Function
May function as a growth factor receptor. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-11202
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • gelatinous drop-like corneal dystrophy Monarch

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)