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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 51
- 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 51
- Epithin 2
- ARCI11 3
- MTSP1 3
- ST14 5
External Ids for ST14 Gene
- HGNC: 11344
- NCBI Entrez Gene: 6768
- Ensembl: ENSG00000149418
- OMIM®: 606797
- UniProtKB/Swiss-Prot: Q9Y5Y6
Previous HGNC Symbols for ST14 Gene
- PRSS14
Previous GeneCards Identifiers for ST14 Gene
- GC11P132030
- GC11P131542
- GC11P130063
- GC11P129567
- GC11P129534
- GC11P125980
Summaries 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 Developmental Biology 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.
Additional gene information for ST14 Gene
- HGNC (11344)
- NCBI Entrez Gene (6768)
- Ensembl (ENSG00000149418)
- OMIM® (606797)
- UniProtKB/Swiss-Prot (Q9Y5Y6)
- Open Targets Platform(ENSG00000149418)
- Monarch Initiative
- Search for ST14 at DataMed
- Search for ST14 at HumanCyc
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
- 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:
-
- 11q24.3 by HGNC
- 11q24.3 by Entrez Gene
- 11q24.3 by Ensembl
ST14 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for ST14 Gene
Selected DME Specific Peptides for ST14 Gene
- Q9Y5Y6:
-
- DIALLEL
- GDSGGPL
- WPWQVSLH
- DSCQGDSGG
- CQGDSGGP
- WPWQVSL
Post-translational modifications for ST14 Gene
Other Protein References for ST14 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences ST14 / Matriptase Antibody
- G Biosciences Immunotag™ Matriptase Antibody
- GeneTex Anti-ST14 antibody
-
Custom Antibody ServicesOriGene Antibodies for ST14
- Novus Biologicals Antibodies for ST14
-
Abcam antibodies for ST14
- Invitrogen Antibodies for ST14 (AFLGC-ST14)
-
Biorbyt antibodies for ST14
-
Boster Bio Antibodies for ST14
-
Santa Cruz Biotechnology (SCBT) Antibodies for ST14
- Sino Biological Antibodies for ST14
Protein products for research
-
OriGene Purified Proteins for ST14
- Search Origene for MassSpec and Protein Over-expression Lysates for ST14
- Origene Custom Protein Services for ST14
- antibodies-online: Show 7 available ST14 Proteins ranked by validation data
- Compare Top ST14 Proteins
-
Quality Products:
-
Abcam proteins for ST14
Assay products for research
- RayBiotech Human Matriptase/ST14 ELISA
- antibodies-online: Show 9 available ST14 Elisa Kits ranked by validation data
- Compare Top ST14 Elisa Kits
-
Quality Products:
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
- ProtoNet:
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- Family:
-
- Belongs to the peptidase S1 family.
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
| 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 | -- |
Phenotypes for ST14 Gene
- MGI mutant phenotypes for ST14:
-
inferred from 6 alleles
- nervous system phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- behavior/neurological phenotype
- immune system phenotype
- mortality/aging
- liver/biliary system phenotype
- hematopoietic system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- vision/eye phenotype
- limbs/digits/tail phenotype
- integument phenotype
- embryo phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for ST14:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Mildly decreased CFP-tsO45G cell surface transport
- Increased hepcidin::fluc mRNA expression
- Decreased endosome-nucleus distance (endosomes clustered in the perinuclear region)
- Decreased homologous recombination repair frequency
- Two nuclei (binuclear), dynamic nuclei (hole, folded or small irregular)
- Increased sensitivity to paclitaxel
Animal Models for ST14 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ST14 - Starting at $85 >
- * ST14 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ST14
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ST14
-
Santa Cruz Biotechnology (SCBT) CRISPR for ST14
miRNA for ST14 Gene
- miRTarBase miRNAs that target ST14
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ST14
- Browse OriGene Inhibitory RNA Products For ST14
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ST14
Clone products for research
- Applied Biological Materials (abm): Clones for ST14 - Starting at $45 >
- * ST14 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ST14
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ST14
Cell Lines for research
-
Horizon Cell Lines 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.
| 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 |
- Nucleoplasm (2)
- Vesicles (2)
| 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 | -- |
Pathways & Interactions for ST14 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Keratinization |
.33
|
|
| 2 | Adhesion |
-
|
|
| 3 | MicroRNAs in cancer | ||
| 4 | Developmental Biology | ||
Pathways by source for ST14 Gene
3 Reactome pathways for ST14 Gene
1 KEGG pathway for ST14 Gene
1 Cell Signaling Technology pathway for ST14 Gene
Interacting Proteins for ST14 Gene
GPS-Prot Interaction Network for ST14
| 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 | -- |
No data available for SIGNOR curated interactions for ST14 Gene
Drugs & Compounds for ST14 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
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 :
-
- ENST00000278742 3305 nts (view in UCSC)
- ENST00000524718 922 nts (view in UCSC)
- ENST00000530376 861 nts (view in UCSC)
- ENST00000530532 1185 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ST14 - Starting at $85 >
- * ST14 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ST14
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ST14
-
Santa Cruz Biotechnology (SCBT) CRISPR for ST14
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ST14
- Browse OriGene Inhibitory RNA Products For ST14
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ST14
Clone products for research
- Applied Biological Materials (abm): Clones for ST14 - Starting at $45 >
- * ST14 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ST14
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ST14
| 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 embryonic tissues and stem cells from LifeMap Discovery
-
Epithelial Cells
- Fetal Matrix Cells Hair Follicle
- Corneocytes Stratified Epidermis
- Granular Keratinocytes Stratified Epidermis
- Gut Tube (Gastrointestinal Tract)
-
Epidermis (Integumentary System)
- Corneocytes Stratified Epidermis
- Granular Keratinocytes Stratified Epidermis
- Kidney (Urinary System)
-
Hair (Integumentary System)
- Fetal Matrix Cells Hair Follicle
-
Limb (Muscoskeletal System)
- Apical Ectodermal Ridge Cells Limb Ectoderm
-
Ectoderm (Gastrulation Derivatives)
- Apical Ectodermal Ridge Cells Limb Ectoderm
-
Testis (Reproductive System)
- Sertoli cells Seminiferous Tubules
-
Colon (Gastrointestinal Tract)
-
Pancreas (Endocrine System)
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).
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.504315Evidence 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
Primer products for research
-
OriGene qPCR primer pairs for ST14
-
OriGene qPCR primer pairs and template standards for ST14
Gene Expression Assays 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ST14 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ST14 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | St14 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | St14 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | ST14 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ST14 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ST14 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ST14 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ST14 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | st14 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | st14a 30 31 |
|
OneToMany | |
| ST14 (2 of 3) 31 |
|
OneToMany | |||
| st14b 31 |
|
OneToMany | |||
| wufl72f01 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG11824 32 |
|
|
|
| CG4914 32 |
|
|
|||
| Sb 32 |
|
|
|||
| CG18735 32 |
|
|
|||
| CG9294 32 |
|
|
|||
| Try29F 32 |
|
|
|||
| CG18065 32 |
|
|
|||
| CG4386 32 |
|
|
|||
| CG5197 32 |
|
|
|||
| CG7432 32 |
|
|
|||
| CG8213 32 |
|
|
|||
| EG:80H7.3 32 |
|
|
|||
| CG1299 32 |
|
|
|||
| Worm (Caenorhabditis elegans) |
Secernentea | C07G1.1 32 |
|
|
- 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
Paralogs for ST14 Gene
Paralogs for ST14 Gene
(52) SIMAP similar genes for ST14 Gene using alignment to 2 proteins:
- ST14_HUMAN
- Q8WVC1_HUMAN
- serase-1B
- TMPRSS11E
- DESC1
- TMPRSS11D
- TMPRSS11F
- TMPRSS5
- PRSS36
- OVCH1
- PRSS55
- CTRL
- CTRB2
- CTRB1
- TMPRSS11A
- PRSS27
- TMPRSS11B
- HPN
- TMPRSS12
- PRSS56
- KLKB1
- PRSS41
- DKFZp586F0824
- PRSS8
- PRSS42
- PRSS22
- PRSS21
- PROC
- TMPRSS7
- PRSS33
- CELA2A
- KLK13
- TRY8
- TPSB2
- TPSAB1
- TMPRSS6
- PRSS48
- PRSS38
- PRSS3
- PRSS2
- KLK15
- TMPRSS13
- PRSS1
- KLK8
- KLK12
- GZMA
- CFD
- TMPRSS2
- KLK3
- TMPRSS15
- F11
- CFI
- KLK9
- CTRC
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 |
|---|---|---|---|---|---|
| 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 | |
| rs116759881 | Likely Benign: not provided | 130,189,820(+) |
C/T NM_021978.4(ST14):c.522C>T (p.Ala174=) |
SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ichthyosis, congenital, autosomal recessive 11 |
|
|
| ichthyosis, follicular |
|
|
| ichthyosis |
|
|
| autosomal recessive congenital ichthyosis |
|
|
| hypotrichosis |
|
|
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
- Genetic Association Database
- (GAD)
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- (HuGE)
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No data available for Genatlas for ST14 Gene
Publications for ST14 Gene
- 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 23
- 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 23
- 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 74
- 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 23
- Adhesion signaling by a novel mitotic substrate of src kinases. (PMID: 16007225) Bhatt AS … Moasser MM (Oncogene 2005) 3 4 23
ExternalLinks
Products for ST14 Gene
- View all 12 R&D Systems ST14 (Matriptase/ST14) Products
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Sources for ST14 Gene
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