The protein encoded by this gene is an epithelial-derived, integral membrane serine protease. This protease forms a complex with the Kunitz-type serine protease inhibitor, HAI-1, and is found to be activated by sphingosine 1-phosphate. This protease has been shown to cleave and activate hepatocyte growth factor/scattering factor, and urokinase plasminogen activator, which sugge... See more...

Aliases for ST14 Gene

Aliases for ST14 Gene

  • ST14 Transmembrane Serine Protease Matriptase 2 3 5
  • MT-SP1 2 3 4
  • SNC19 2 3 4
  • Suppression Of Tumorigenicity 14 (Colon Carcinoma) 2 3
  • Suppressor Of Tumorigenicity 14 Protein 3 4
  • Membrane-Type Serine Protease 1 3 4
  • Serine Protease TADG-15 3 4
  • Serine Protease 14 3 4
  • EC 3.4.21.109 4 50
  • Matriptase 2 4
  • Prostamin 3 4
  • TMPRSS14 2 3
  • PRSS14 3 4
  • TADG15 3 4
  • CAP3 2 3
  • HAI 2 3
  • Suppression Of Tumorigenicity 14 (Colon Carcinoma, Matriptase, Epithin) 3
  • Tumor Associated Differentially Expressed Gene 15 Protein 3
  • Tumor-Associated Differentially-Expressed Gene 15 Protein 4
  • Suppression Of Tumorigenicity 14 2
  • Channel–Activating Protein 3 2
  • Channel-Activating Protein 3 3
  • EC 3.4.21 50
  • Epithin 2
  • ARCI11 3
  • MTSP1 3
  • ST14 5

External Ids for ST14 Gene

Previous HGNC Symbols for ST14 Gene

  • PRSS14

Previous GeneCards Identifiers for ST14 Gene

  • GC11P132030
  • GC11P131542
  • GC11P130063
  • GC11P129567
  • GC11P129534
  • GC11P125980

Summaries for ST14 Gene

Entrez Gene Summary for ST14 Gene

  • The protein encoded by this gene is an epithelial-derived, integral membrane serine protease. This protease forms a complex with the Kunitz-type serine protease inhibitor, HAI-1, and is found to be activated by sphingosine 1-phosphate. This protease has been shown to cleave and activate hepatocyte growth factor/scattering factor, and urokinase plasminogen activator, which suggest the function of this protease as an epithelial membrane activator for other proteases and latent growth factors. The expression of this protease has been associated with breast, colon, prostate, and ovarian tumors, which implicates its role in cancer invasion, and metastasis. [provided by RefSeq, Jul 2008]

GeneCards Summary for ST14 Gene

ST14 (ST14 Transmembrane Serine Protease Matriptase) is a Protein Coding gene. Diseases associated with ST14 include Ichthyosis, Congenital, Autosomal Recessive 11 and Ichthyosis, Follicular. Among its related pathways are Adhesion and Keratinization. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and serine-type peptidase activity. An important paralog of this gene is TMPRSS6.

UniProtKB/Swiss-Prot Summary for ST14 Gene

  • Degrades extracellular matrix. Proposed to play a role in breast cancer invasion and metastasis. Exhibits trypsin-like activity as defined by cleavage of synthetic substrates with Arg or Lys as the P1 site. Involved in the terminal differentiation of keratinocytes through prostasin (PRSS8) activation and filaggrin (FLG) processing.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ST14 Gene

Genomics for ST14 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ST14 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J130159 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 262.1 +2.1 2056 5.7 IKZF1 SSRP1 CEBPA ZNF10 POLR2A NFIC MXD4 CEBPB CTCF KMT2B ST14 ADAMTS8 lnc-ZBTB44-1 ZBTB44
GH11J130158 Promoter/Enhancer 0.5 Ensembl dbSUPER 250.7 -1.1 -1081 0.2 ST14 HSALNG0088201 APLP2
GH11J130119 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 12.8 -36.2 -36215 13.9 JUND CEBPA ATF3 CHD4 YY1 MXD4 CTCF CEBPB HOMEZ MAX MN309423 APLP2 PRDM10 ST14 LINC00167 NFRKB ENSG00000274197 HSALNG0088200-001
GH11J130143 Enhancer 1.5 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 11.6 -14.0 -14034 4.8 KLF9 CEBPA ATF3 POLR2A CHD4 YY1 MXD4 FOXA1 KLF11 HOMEZ ST14 HSALNG0088201 APLP2
GH11J130165 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 11.1 +7.3 7279 3.8 ZNF600 JUND MAX GABPA STAT3 TBP FOSL2 BHLHE40 SPI1 POLR2A ST14 ADAMTS8 LINC02551 ENSG00000255455 PRDM10 lnc-ZBTB44-1 ZBTB44
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ST14 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ST14

Top Transcription factor binding sites by QIAGEN in the ST14 gene promoter:
  • AML1a
  • c-Myc
  • deltaCREB
  • FOXJ2
  • FOXJ2 (long isoform)
  • GATA-1
  • Max1
  • MAZR
  • Sox9

Genomic Locations for ST14 Gene

Latest Assembly
chr11:130,159,782-130,210,362
(GRCh38/hg38)
Size:
50,581 bases
Orientation:
Plus strand

Previous Assembly
chr11:130,029,677-130,080,257
(GRCh37/hg19 by Entrez Gene)
Size:
50,581 bases
Orientation:
Plus strand

chr11:130,029,457-130,080,271
(GRCh37/hg19 by Ensembl)
Size:
50,815 bases
Orientation:
Plus strand

Genomic View for ST14 Gene

Genes around ST14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ST14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ST14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ST14 Gene

Proteins for ST14 Gene

  • Protein details for ST14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5Y6-ST14_HUMAN
    Recommended name:
    Suppressor of tumorigenicity 14 protein
    Protein Accession:
    Q9Y5Y6
    Secondary Accessions:
    • Q9BS01
    • Q9H3S0
    • Q9HB36
    • Q9HCA3

    Protein attributes for ST14 Gene

    Size:
    855 amino acids
    Molecular mass:
    94770 Da
    Quaternary structure:
    • Interacts with CDCP1. May interact with TMEFF1.

    Three dimensional structures from OCA and Proteopedia for ST14 Gene

neXtProt entry for ST14 Gene

Selected DME Specific Peptides for ST14 Gene

Q9Y5Y6:
  • DIALLEL
  • GDSGGPL
  • WPWQVSLH
  • DSCQGDSGG
  • CQGDSGGP
  • WPWQVSL

Post-translational modifications for ST14 Gene

  • Glycosylation at Asn109, Thr209, Asn302, Asn485, and Asn772
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for ST14 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ST14 Gene

Gene Families for ST14 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for ST14 Gene

InterPro:
Blocks:
  • Serine protease, trypsin family
  • Chymotrypsin serine protease family (S1) signature
  • CUB domain
  • Low density lipoprotein-receptor, class A
  • SEA domain

Suggested Antigen Peptide Sequences for ST14 Gene

GenScript: Design optimal peptide antigens:
  • ST14 protein (Q8WVC1_HUMAN)
  • Tumor-associated differentially-expressed gene 15 protein (ST14_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y5Y6

UniProtKB/Swiss-Prot:

ST14_HUMAN :
  • Belongs to the peptidase S1 family.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with ST14: view

Function for ST14 Gene

Molecular function for ST14 Gene

UniProtKB/Swiss-Prot Function:
Degrades extracellular matrix. Proposed to play a role in breast cancer invasion and metastasis. Exhibits trypsin-like activity as defined by cleavage of synthetic substrates with Arg or Lys as the P1 site. Involved in the terminal differentiation of keratinocytes through prostasin (PRSS8) activation and filaggrin (FLG) processing.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Cleaves various synthetic substrates with Arg or Lys at the P1 position and prefers small side-chain amino acids, such as Ala and Gly, at the P2 position.; EC=3.4.21.109; Evidence={ECO:0000269|PubMed:16407223};.
GENATLAS Biochemistry:
suppression of tumorigenicity 14,colon carcinoma,see TSG11F

Enzyme Numbers (IUBMB) for ST14 Gene

Phenotypes From GWAS Catalog for ST14 Gene

Gene Ontology (GO) - Molecular Function for ST14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA --
GO:0005515 protein binding IEA --
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity TAS,IDA 19911255
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ST14: view
genes like me logo Genes that share phenotypes with ST14: view

Human Phenotype Ontology for ST14 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ST14 Gene

MGI Knock Outs for ST14:
  • St14 St14<tm1Bug>
  • St14 St14<tm2Bug>
  • St14 St14<tm1.1(KOMP)Vlcg>

miRNA for ST14 Gene

miRTarBase miRNAs that target ST14

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ST14

No data available for Transcription Factor Targets and HOMER Transcription for ST14 Gene

Localization for ST14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ST14 Gene

Membrane. Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ST14 gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytoskeleton 2
nucleus 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ST14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 10831593
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ST14: view

Pathways & Interactions for ST14 Gene

genes like me logo Genes that share pathways with ST14: view

Pathways by source for ST14 Gene

1 KEGG pathway for ST14 Gene
1 Cell Signaling Technology pathway for ST14 Gene

Gene Ontology (GO) - Biological Process for ST14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001843 neural tube closure IEA --
GO:0006508 proteolysis TAS,IDA 19911255
GO:0030216 keratinocyte differentiation IBA,IMP 18843291
GO:0060672 epithelial cell morphogenesis involved in placental branching IEA --
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with ST14: view

No data available for SIGNOR curated interactions for ST14 Gene

Drugs & Compounds for ST14 Gene

(8) Drugs for ST14 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Urokinase Approved, Investigational, Withdrawn Pharma Target, substrate 0
benzamidine Experimental Pharma Target 0
Camostat Experimental Pharma Target, inhibitor 27

(3) Additional Compounds for ST14 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ST14: view

Transcripts for ST14 Gene

mRNA/cDNA for ST14 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ST14

Alternative Splicing Database (ASD) splice patterns (SP) for ST14 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b
SP1:
SP2:

Relevant External Links for ST14 Gene

GeneLoc Exon Structure for
ST14

Expression for ST14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ST14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ST14 Gene

This gene is overexpressed in Colon - Transverse (x9.9), Esophagus - Mucosa (x5.9), and Small Intestine - Terminal Ileum (x4.5).

Protein differential expression in normal tissues from HIPED for ST14 Gene

This gene is overexpressed in Cervix (12.7) and Rectum (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ST14 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ST14

SOURCE GeneReport for Unigene cluster for ST14 Gene:

Hs.504315

Evidence on tissue expression from TISSUES for ST14 Gene

  • Blood(4.5)
  • Intestine(4.3)
  • Muscle(4.3)
  • Lung(3.2)
  • Pancreas(3)
  • Stomach(2.8)
  • Kidney(2.8)
  • Skin(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ST14 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
Regions:
Head and neck:
  • brain
  • eye
  • eyelid
  • face
  • forehead
  • head
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with ST14: view

Primer products for research

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ST14 Gene

Orthologs for ST14 Gene

This gene was present in the common ancestor of animals.

Orthologs for ST14 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ST14 29 30
  • 98.95 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ST14 29 30
  • 85.33 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia St14 29 16 30
  • 83.16 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia St14 29
  • 82.85 (n)
Cow
(Bos Taurus)
Mammalia ST14 29 30
  • 81.75 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ST14 30
  • 73 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ST14 30
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ST14 29 30
  • 67.58 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ST14 30
  • 58 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia st14 29
  • 58.06 (n)
Zebrafish
(Danio rerio)
Actinopterygii st14a 29 30
  • 54.95 (n)
OneToMany
ST14 (2 of 3) 30
  • 45 (a)
OneToMany
st14b 30
  • 44 (a)
OneToMany
wufl72f01 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG11824 31
  • 41 (a)
CG4914 31
  • 39 (a)
Sb 31
  • 38 (a)
CG18735 31
  • 38 (a)
CG9294 31
  • 38 (a)
Try29F 31
  • 38 (a)
CG18065 31
  • 37 (a)
CG4386 31
  • 37 (a)
CG5197 31
  • 35 (a)
CG7432 31
  • 35 (a)
CG8213 31
  • 34 (a)
EG:80H7.3 31
  • 34 (a)
CG1299 31
  • 34 (a)
Worm
(Caenorhabditis elegans)
Secernentea C07G1.1 31
  • 37 (a)
Species where no ortholog for ST14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ST14 Gene

ENSEMBL:
Gene Tree for ST14 (if available)
TreeFam:
Gene Tree for ST14 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ST14: view image
Alliance of Genome Resources:
Additional Orthologs for ST14

Paralogs for ST14 Gene

Variants for ST14 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ST14 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
1012596 Likely Benign: not provided 130,196,660(+) C/T
NM_021978.4(ST14):c.1314C>T (p.Thr438=)
SYNONYMOUS
872044 Likely Pathogenic: not provided 130,188,270(+) C/T
NM_021978.4(ST14):c.238C>T (p.Gln80Ter)
NONSENSE
872045 Uncertain Significance: not provided 130,198,564(+) C/G
NM_021978.4(ST14):c.1627C>G (p.Gln543Glu)
MISSENSE
979027 Likely Pathogenic: Ichthyosis, congenital, autosomal recessive 11 130,196,661(+) G/A
NM_021978.4(ST14):c.1315G>A (p.Gly439Ser)
MISSENSE
rs115956340 Benign: not provided 130,198,991(+) G/A
NM_021978.4(ST14):c.1729G>A (p.Gly577Arg)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ST14 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ST14 Gene

Variant ID Type Subtype PubMed ID
dgv3e24 CNV gain 17666407
esv2759871 CNV loss 17122850
nsv1051470 CNV gain 25217958
nsv1143696 CNV deletion 24896259
nsv478551 CNV novel sequence insertion 20440878
nsv517199 CNV loss 19592680
nsv556565 CNV loss 21841781
nsv832295 CNV gain 17160897

Variation tolerance for ST14 Gene

Residual Variation Intolerance Score: 84.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.71; 78.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ST14 Gene

Human Gene Mutation Database (HGMD)
ST14
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ST14
Leiden Open Variation Database (LOVD)
ST14

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ST14 Gene

Disorders for ST14 Gene

MalaCards: The human disease database

(13) MalaCards diseases for ST14 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
ichthyosis, congenital, autosomal recessive 11
  • arci11
ichthyosis, follicular
  • follicular ichthyosis
ichthyosis
  • ichthyoses
autosomal recessive congenital ichthyosis
  • arci
microcytic anemia
  • iron-refractory iron deficiency anemia
- elite association - COSMIC cancer census association via MalaCards
Search ST14 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ST14_HUMAN
  • Ichthyosis, congenital, autosomal recessive 11 (ARCI11) [MIM:602400]: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {ECO:0000269 PubMed:17273967, ECO:0000269 PubMed:18843291}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for ST14

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ST14: view

No data available for Genatlas for ST14 Gene

Publications for ST14 Gene

  1. Molecular cloning of cDNA for matriptase, a matrix-degrading serine protease with trypsin-like activity. (PMID: 10373424) Lin CY … Dickson RB (The Journal of biological chemistry 1999) 2 3 4 22
  2. Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing. (PMID: 18843291) Alef T … Hennies HC (The Journal of investigative dermatology 2009) 3 4 22
  3. Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. (PMID: 17273967) Basel-Vanagaite L … Shohat M (American journal of human genetics 2007) 3 4 72
  4. Protein interaction analysis of ST14 domains and their point and deletion mutants. (PMID: 16407223) Ge W … Zheng S (The Journal of biological chemistry 2006) 3 4 22
  5. Adhesion signaling by a novel mitotic substrate of src kinases. (PMID: 16007225) Bhatt AS … Moasser MM (Oncogene 2005) 3 4 22

Products for ST14 Gene

Sources for ST14 Gene