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 ... See more...

Aliases for TMPRSS4 Gene

Aliases for TMPRSS4 Gene

  • Transmembrane Serine Protease 4 2 3 5
  • Membrane-Type Serine Protease 2 2 3 4
  • Transmembrane Protease, Serine 4 2 3
  • Type II Membrane Serine Protease 2 3
  • Transmembrane Protease Serine 4 3 4
  • Transmembrane Serine Protease 3 2 3
  • Channel-Activating Protease 2 3 4
  • TMPRSS3 3 4
  • MT-SP2 3 4
  • CAPH2 3 4
  • EC 3.4.21.43 54
  • EC 3.4.21.4 54
  • EC 3.4.21.- 4
  • EC 3.4.21 54

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 Serine Protease 4) is a Protein Coding gene. Diseases associated with TMPRSS4 include Autosomal Recessive Cerebral Atrophy and Deafness, Autosomal Recessive 8. Among its related pathways are Measles. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and scavenger receptor activity. An important paralog of this gene is KLK8.

UniProtKB/Swiss-Prot Summary for TMPRSS4 Gene

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

Additional gene information for TMPRSS4 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMPRSS4 Gene

Genomics for TMPRSS4 Gene

GeneHancer (GH) Regulatory Elements for TMPRSS4 Gene

Promoters and enhancers for TMPRSS4 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 TMPRSS4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMPRSS4 gene promoter:
  • AML1a
  • C/EBPalpha
  • CHOP-10
  • CREB
  • deltaCREB
  • GR
  • GR-alpha
  • Lmo2
  • POU3F2

Genomic Locations for TMPRSS4 Gene

Genomic Locations for TMPRSS4 Gene
chr11:118,077,012-118,125,505
(GRCh38/hg38)
Size:
48,494 bases
Orientation:
Plus strand
chr11:117,947,727-117,992,605
(GRCh37/hg19)
Size:
44,879 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

  • Glycosylation at Asn130 and Asn178
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for TMPRSS4

Domains & Families for TMPRSS4 Gene

Gene Families for TMPRSS4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for TMPRSS4 Gene

GenScript: Design optimal peptide antigens:
  • Membrane-type serine protease 2 (TMPS4_HUMAN)

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

Phenotypes From GWAS Catalog 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,IEA 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

Clone 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

Subcellular locations from the

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

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
GO:0030141 secretory granule IEA,IDA 29529050
genes like me logo Genes that share ontologies with TMPRSS4: view

Pathways & Interactions for TMPRSS4 Gene

PathCards logo

SuperPathways for TMPRSS4 Gene

SuperPathway Contained pathways
1 Measles
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 IEA,NAS 10825129
GO:0006897 endocytosis IEA --
GO:0009611 response to wounding IEA --
GO:0010468 regulation of gene expression IDA 29529050
GO:0045967 negative regulation of growth rate IDA 29529050
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

Transcripts for TMPRSS4 Gene

CRISPR Products

Clone 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 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)
  • Lung(2)
genes like me logo Genes that share expression patterns with TMPRSS4: view

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 33 32
  • 99.23 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TMPRSS4 33 32
  • 86.99 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TMPRSS4 33 32
  • 84.56 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tmprss4 17 33 32
  • 81.61 (n)
rat
(Rattus norvegicus)
Mammalia Tmprss4 32
  • 80.84 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMPRSS4 33
  • 61 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMPRSS4 33
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMPRSS4 33 32
  • 63.19 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMPRSS4 33
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmprss4 32
  • 50.87 (n)
zebrafish
(Danio rerio)
Actinopterygii tmprss4a 33 32
  • 49.31 (n)
OneToMany
tmprss4b 33
  • 33 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta lambdaTry 32
  • 47.06 (n)
CG18065 34
  • 41 (a)
Try29F 34
  • 38 (a)
&lgr;Try 34
  • 38 (a)
CG4613 34
  • 37 (a)
CG11192 34
  • 37 (a)
CG9372 34
  • 37 (a)
CG10405 34
  • 36 (a)
CG4914 34
  • 36 (a)
BEST:GH02921 34
  • 35 (a)
CG6865 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TMPRSS4: view image

Paralogs for TMPRSS4 Gene

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 Variation AA Info Type
rs1000026219 -- 118,090,913(+) C/T intron_variant
rs1000035514 -- 118,108,374(+) C/T intron_variant
rs1000121025 -- 118,075,841(+) G/C upstream_transcript_variant
rs1000133899 -- 118,094,083(+) A/C intron_variant
rs1000144979 -- 118,114,277(+) T/C downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant

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)

Additional Variant Information 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

(13) MalaCards diseases for TMPRSS4 Gene - From: HGMD, Orphanet, and DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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 TM (Cancer research 2000) 2 3 4 23 56
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  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 HF … Gray A (Genome research 2003) 3 4 56
  5. Transmembrane protease, serine 4 (TMPRSS4) is upregulated in IPF lungs and increases the fibrotic response in bleomycin-induced lung injury. (PMID: 29529050) Valero-Jiménez A … Selman M (PloS one 2018) 3 56

Products for TMPRSS4 Gene

Sources for TMPRSS4 Gene