ST14
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ST14 (HGNC:11344) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ST14 transmembrane serine protease matriptase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
PRSS14
Alias symbols
SNC19, HAI, MT-SP1, TMPRSS14, CAP3
%HI
62.79(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.59(Read more about gnomAD LOEUF score)
Cytoband
11q24.3
Genomic Coordinates
GRCh37/hg19: chr11:130029677-130080257 NCBI Ensembl UCSC
GRCh38/hg38: chr11:130159782-130210362 NCBI Ensembl UCSC
MANE Select Transcript
NM_021978.4 ENST00000278742.6 (Read more about MANE Select)
Function
Exhibits trypsin-like activity as defined by cleavage of synthetic substrates with Arg or Lys as the P1 site (PubMed:10373424). Involved in the terminal differentiation of keratinocytes through prostasin (PRSS8) activation and filaggrin (FLG) processing (PubMed:18843291). Proteolytically cleaves and therefore activates TMPRSS13 (PubMed:28710277). {ECO:0000269|PubMed:10373424, ECO:0000269|PubMed:18843291, ECO:0000269|PubMed:28710277}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-6607
ClinGen Curation ID:
CCID:007942
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • autosomal recessive congenital ichthyosis 11 Monarch

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)