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Aliases for TMPRSS4 Gene

Aliases for TMPRSS4 Gene

  • Transmembrane Protease, Serine 4 2 3 5
  • Membrane-Type Serine Protease 2 2 3 4
  • Type II Membrane Serine Protease 2 3
  • Transmembrane Serine Protease 3 2 3
  • Channel-Activating Protease 2 3 4
  • TMPRSS3 3 4
  • MT-SP2 3 4
  • CAPH2 3 4
  • Transmembrane Protease Serine 4 3
  • EC 3.4.21.43 61
  • EC 3.4.21.4 61
  • EC 3.4.21.- 4
  • EC 3.4.21 61

External Ids for TMPRSS4 Gene

Previous GeneCards Identifiers for TMPRSS4 Gene

  • GC11P120304
  • GC11P119459
  • GC11P117981
  • GC11P117485
  • GC11P117452
  • GC11P113881
  • GC11P117949

Summaries for TMPRSS4 Gene

Entrez Gene Summary for TMPRSS4 Gene

  • This gene encodes a member of the serine protease family. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified as a gene overexpressed in pancreatic carcinoma. The encoded protein is membrane bound with a N-terminal anchor sequence and a glycosylated extracellular region containing the serine protease domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for TMPRSS4 Gene

TMPRSS4 (Transmembrane Protease, Serine 4) is a Protein Coding gene. Diseases associated with TMPRSS4 include Autosomal Recessive Cerebral Atrophy and Autosomal Recessive Nonsyndromic Deafness 8. Among its related pathways are Influenza A. GO annotations related to this gene include serine-type endopeptidase activity and scavenger receptor activity. An important paralog of this gene is TMPRSS2.

UniProtKB/Swiss-Prot for TMPRSS4 Gene

  • Probable protease. Seems to be capable of activating ENaC (By similarity).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMPRSS4 Gene

Genomics for TMPRSS4 Gene

Regulatory Elements for TMPRSS4 Gene

Enhancers for TMPRSS4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G117997 2 FANTOM5 Ensembl ENCODE dbSUPER 10.2 -70.9 -70947 17.5 HDGF FOXA2 PKNOX1 CREB3L1 ARNT WRNIP1 YBX1 ZNF766 ZNF143 ZNF207 IL10RA PCSK7 ENSG00000254528 LOC101929133 LOC653303 FXYD2 TMPRSS13 TMPRSS4 FXYD6-FXYD2 FXYD6
GH11G118050 1 Ensembl ENCODE 17.9 -25.1 -25131 2.3 SMARCA5 CTCF L3MBTL2 HINFP JUNB DPF2 TBX21 EP300 TFDP1 HDAC2 TMPRSS4 DSCAML1 ENSG00000254844 IL10RA ENSG00000254528 FXYD2 FXYD6 FXYD6-FXYD2 TMPRSS13 GC11M118037
GH11G118045 1 FANTOM5 ENCODE 17.7 -31.0 -31046 1.9 PKNOX1 MTA2 NR2F1 ZSCAN4 TRIM22 JUNB EBF1 TBX21 RELA EED TMPRSS4 IL10RA TMPRSS13 DSCAML1 ENSG00000254844 FXYD6 FXYD6-FXYD2 CD3G CD3E CD3D
GH11G117978 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.2 -97.2 -97152 1.9 HDAC1 PKNOX1 TAL1 JUN MAX EBF1 RELA FOSL1 GATA3 FOS IL10RA TMPRSS13 TMPRSS4 GC11P117950
GH11G117906 1.5 Ensembl ENCODE dbSUPER 10.1 -168.1 -168127 4.1 HDGF PKNOX1 ATF1 ARNT ZNF133 TCF12 GTF3C2 GATA2 FOS ZNF263 ARCN1 UBE4A TMPRSS13 FXYD6 FXYD6-FXYD2 DSCAML1 ENSG00000254844 RNF214 ENSG00000254528 FXYD2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMPRSS4 on UCSC Golden Path with GeneCards custom track

Genomic Location for TMPRSS4 Gene

Chromosome:
11
Start:
118,077,012 bp from pter
End:
118,125,505 bp from pter
Size:
48,494 bases
Orientation:
Plus strand

Genomic View for TMPRSS4 Gene

Genes around TMPRSS4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMPRSS4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMPRSS4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMPRSS4 Gene

Proteins for TMPRSS4 Gene

  • Protein details for TMPRSS4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRS4-TMPS4_HUMAN
    Recommended name:
    Transmembrane protease serine 4
    Protein Accession:
    Q9NRS4
    Secondary Accessions:
    • A8MU84
    • B0YJB0
    • B7Z8C5
    • E7ERX8
    • Q5XKQ6
    • Q6UX37
    • Q9NZA5

    Protein attributes for TMPRSS4 Gene

    Size:
    437 amino acids
    Molecular mass:
    48246 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF31436.1; Type=Frameshift; Positions=31; Evidence={ECO:0000305};

    Alternative splice isoforms for TMPRSS4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMPRSS4 Gene

Selected DME Specific Peptides for TMPRSS4 Gene

Q9NRS4:
  • PWQVSIQ
  • VLTAAHC
  • GDSGGPL
  • PGVYTKV
  • CQGDSGGP
  • WVLTAAHCFR
  • LTAAHCF
  • WVLTAAH

Post-translational modifications for TMPRSS4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cloud-Clone Corp. Antibodies for TMPRSS4

Domains & Families for TMPRSS4 Gene

Suggested Antigen Peptide Sequences for TMPRSS4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NRS4

UniProtKB/Swiss-Prot:

TMPS4_HUMAN :
  • Belongs to the peptidase S1 family.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with TMPRSS4: view

Function for TMPRSS4 Gene

Molecular function for TMPRSS4 Gene

UniProtKB/Swiss-Prot Function:
Probable protease. Seems to be capable of activating ENaC (By similarity).

Enzyme Numbers (IUBMB) for TMPRSS4 Gene

Gene Ontology (GO) - Molecular Function for TMPRSS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity NAS 10825129
GO:0005044 scavenger receptor activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
genes like me logo Genes that share ontologies with TMPRSS4: view
genes like me logo Genes that share phenotypes with TMPRSS4: view

Animal Models for TMPRSS4 Gene

MGI Knock Outs for TMPRSS4:

Animal Model Products

  • Taconic Biosciences Mouse Models for TMPRSS4

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TMPRSS4 Gene

Localization for TMPRSS4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMPRSS4 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 TMPRSS4 gene
Compartment Confidence
plasma membrane 3
extracellular 1

Gene Ontology (GO) - Cellular Components for TMPRSS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 10825129
genes like me logo Genes that share ontologies with TMPRSS4: view

Pathways & Interactions for TMPRSS4 Gene

SuperPathways for TMPRSS4 Gene

SuperPathway Contained pathways
1 Influenza A
genes like me logo Genes that share pathways with TMPRSS4: view

Pathways by source for TMPRSS4 Gene

1 KEGG pathway for TMPRSS4 Gene

Gene Ontology (GO) - Biological Process for TMPRSS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis NAS,IEA 10825129
GO:0006898 receptor-mediated endocytosis IEA --
genes like me logo Genes that share ontologies with TMPRSS4: view

No data available for SIGNOR curated interactions for TMPRSS4 Gene

Drugs & Compounds for TMPRSS4 Gene

(1) Drugs for TMPRSS4 Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
PMSF Pharma Serine proteinases inhibitor, irreversible 0

(1) ApexBio Compounds for TMPRSS4 Gene

Compound Action Cas Number
PMSF Serine proteinases inhibitor, irreversible 329-98-6
genes like me logo Genes that share compounds with TMPRSS4: view

Drug Products

Transcripts for TMPRSS4 Gene

Unigene Clusters for TMPRSS4 Gene

Transmembrane protease, serine 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMPRSS4 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1: -
SP2: - -
SP3: - -
SP4: - - -
SP5: - -
SP6:
SP7: - -

Relevant External Links for TMPRSS4 Gene

GeneLoc Exon Structure for
TMPRSS4
ECgene alternative splicing isoforms for
TMPRSS4

Expression for TMPRSS4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMPRSS4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMPRSS4 Gene

This gene is overexpressed in Esophagus - Mucosa (x16.7), Colon - Transverse (x11.5), and Bladder (x7.2).

Protein differential expression in normal tissues from HIPED for TMPRSS4 Gene

This gene is overexpressed in Rectum (37.5) and Colon (31.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TMPRSS4 Gene



Protein tissue co-expression partners for TMPRSS4 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMPRSS4 Gene:

TMPRSS4

SOURCE GeneReport for Unigene cluster for TMPRSS4 Gene:

Hs.161985

mRNA Expression by UniProt/SwissProt for TMPRSS4 Gene:

Q9NRS4-TMPS4_HUMAN
Tissue specificity: High levels in pancreatic, gastric, colorectal and ampullary cancer. Very weak expression in normal gastrointestinal and urogenital tract.

Evidence on tissue expression from TISSUES for TMPRSS4 Gene

  • Intestine(4.8)
  • Pancreas(4.3)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with TMPRSS4: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TMPRSS4 Gene

Orthologs for TMPRSS4 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMPRSS4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMPRSS4 34 35
  • 99.23 (n)
dog
(Canis familiaris)
Mammalia TMPRSS4 34 35
  • 86.99 (n)
cow
(Bos Taurus)
Mammalia TMPRSS4 34 35
  • 84.56 (n)
mouse
(Mus musculus)
Mammalia Tmprss4 34 16 35
  • 81.61 (n)
rat
(Rattus norvegicus)
Mammalia Tmprss4 34
  • 80.84 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMPRSS4 35
  • 61 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMPRSS4 35
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMPRSS4 34 35
  • 63.19 (n)
lizard
(Anolis carolinensis)
Reptilia TMPRSS4 35
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmprss4 34
  • 50.87 (n)
zebrafish
(Danio rerio)
Actinopterygii tmprss4a 34 35
  • 49.31 (n)
tmprss4b 35
  • 33 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta lambdaTry 34
  • 47.06 (n)
CG18065 36
  • 41 (a)
lgrTry 36
  • 38 (a)
Try29F 36
  • 38 (a)
CG11192 36
  • 37 (a)
CG4613 36
  • 37 (a)
CG9372 36
  • 37 (a)
CG10405 36
  • 36 (a)
CG4914 36
  • 36 (a)
BEST:GH02921 36
  • 35 (a)
CG6865 36
  • 33 (a)
Species where no ortholog for TMPRSS4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)
  • worm (Caenorhabditis elegans)

Evolution for TMPRSS4 Gene

ENSEMBL:
Gene Tree for TMPRSS4 (if available)
TreeFam:
Gene Tree for TMPRSS4 (if available)

Paralogs for TMPRSS4 Gene

genes like me logo Genes that share paralogs with TMPRSS4: view

Variants for TMPRSS4 Gene

Sequence variations from dbSNP and Humsavar for TMPRSS4 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000026219 -- 118,090,913(+) TAAGC(C/T)TCCTT intron-variant
rs1000035514 -- 118,108,374(+) TCACA(C/T)TGTGG intron-variant
rs1000121025 -- 118,075,841(+) CCACA(C/G)AATGG intron-variant, upstream-variant-2KB
rs1000133899 -- 118,094,083(+) AATGA(A/C)GCGAC intron-variant
rs1000144979 -- 118,114,277(+) AGGTA(C/T)GGCAA intron-variant, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for TMPRSS4 Gene

Variant ID Type Subtype PubMed ID
esv2745122 CNV deletion 23290073
esv275347 CNV loss 21479260
esv3892103 CNV gain 25118596
nsv1049373 CNV loss 25217958
nsv1159938 CNV duplication 26073780
nsv468878 CNV gain 19166990
nsv509444 CNV insertion 20534489
nsv515768 CNV loss 19592680
nsv556463 CNV loss 21841781
nsv556464 CNV gain 21841781

Variation tolerance for TMPRSS4 Gene

Residual Variation Intolerance Score: 54% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.43; 88.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMPRSS4 Gene

Human Gene Mutation Database (HGMD)
TMPRSS4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMPRSS4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMPRSS4 Gene

Disorders for TMPRSS4 Gene

MalaCards: The human disease database

(12) MalaCards diseases for TMPRSS4 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
autosomal recessive cerebral atrophy
autosomal recessive nonsyndromic deafness 8
  • autosomal recessive deafness 10
deafness, autosomal recessive 98
  • autosomal recessive nonsyndromic deafness 98
deafness, autosomal recessive 16
  • autosomal recessive nonsyndromic deafness 16
deafness, autosomal recessive 24
  • autosomal recessive nonsyndromic deafness 24
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TMPRSS4

Genetic Association Database (GAD)
TMPRSS4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMPRSS4
genes like me logo Genes that share disorders with TMPRSS4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMPRSS4 Gene

Publications for TMPRSS4 Gene

  1. A novel transmembrane serine protease (TMPRSS3) overexpressed in pancreatic cancer. (PMID: 10825129) Wallrapp C. … Gress T.M. (Cancer Res. 2000) 2 3 4 22 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4 64
  5. Overexpression of TMPRSS4 promotes tumor proliferation and aggressiveness in breast cancer. (PMID: 28259959) Li X.M. … Gao P. (Int. J. Mol. Med. 2017) 3 64

Products for TMPRSS4 Gene

Sources for TMPRSS4 Gene

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