This gene encodes a protein that belongs to the serine protease family. Serine proteases are known to be involved in many physiological and pathological processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] See more...

Aliases for TMPRSS5 Gene

Aliases for TMPRSS5 Gene

  • Transmembrane Serine Protease 5 2 3 5
  • Transmembrane Protease, Serine 5 2 3
  • Transmembrane Protease Serine 5 3 4
  • Spinesin 2 4
  • EC 3.4.21.4 51
  • EC 3.4.21.- 4
  • MGC141886 2
  • MGC148044 2
  • EC 3.4.21 51
  • SPINESIN 3
  • TMPRSS5 5

External Ids for TMPRSS5 Gene

Previous GeneCards Identifiers for TMPRSS5 Gene

  • GC11M115911
  • GC11M115070
  • GC11M113592
  • GC11M113095
  • GC11M113063
  • GC11M109486
  • GC11M113558

Summaries for TMPRSS5 Gene

Entrez Gene Summary for TMPRSS5 Gene

  • This gene encodes a protein that belongs to the serine protease family. Serine proteases are known to be involved in many physiological and pathological processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

GeneCards Summary for TMPRSS5 Gene

TMPRSS5 (Transmembrane Serine Protease 5) is a Protein Coding gene. Diseases associated with TMPRSS5 include Deafness, Autosomal Recessive 25 and Charcot-Marie-Tooth Disease, Axonal, Type 2A1. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and scavenger receptor activity. An important paralog of this gene is ST14.

UniProtKB/Swiss-Prot Summary for TMPRSS5 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMPRSS5 Gene

Genomics for TMPRSS5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TMPRSS5 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
GH11J113705 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE CraniofacialAtlas 261.4 +3.5 3478 1.7 SMAD4 SOX5 ZNF48 RFX1 RXRB PPARG XRCC5 SOX13 RFX3 TMPRSS5 HSALNG0087272 LRRC37A13P DRD2 lnc-ZW10-1
GH11J113680 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 18.1 +27.7 27651 2.5 FEZF1 ZIC2 ZNF610 ZNF341 ZNF843 TAL1 PRDM6 HDAC2 ZNF24 ZNF189 HSALNG0087264 TMPRSS5 DRD2 LRRC37A13P ENSG00000255129 TTC12 LOC107984390
GH11J113662 Enhancer 1.2 ENCODE dbSUPER 8.7 +45.2 45168 3.5 FEZF1 IKZF1 MBD2 CEBPB ARNT ZNF395 ZNF639 NBN SMAD4 EP300 TTC12 NXPE4 RBM7 ENSG00000270179 TMPRSS5 LRRC37A13P DRD2 MK280073-092 HSALNG0087264 LOC107984390
GH11J113725 Enhancer 0.9 Ensembl ENCODE 8.5 -19.0 -18990 6.8 IKZF1 CTCF REST SMC3 RAD21 SKIL FOSL1 PRDM6 SPI1 SMARCA4 ENSG00000255129 TTC12 LRRC37A13P RNU6-1107P TMPRSS5 ATF4P4 USP28 DRD2 MTRF1LP1 RPS29P19
GH11J113685 Enhancer 0.5 Ensembl 12.5 +23.8 23810 1.2 IRF4 ZFP91 ZNF316 BATF JUNB IKZF2 PKNOX1 LOC107984390 TMPRSS5 LRRC37A13P lnc-ZW10-3 DRD2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMPRSS5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMPRSS5

Top Transcription factor binding sites by QIAGEN in the TMPRSS5 gene promoter:
  • Pax-2
  • Pax-2a
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4
  • STAT5A
  • STAT5B

Genomic Locations for TMPRSS5 Gene

Latest Assembly
chr11:113,687,547-113,709,811
(GRCh38/hg38)
Size:
22,265 bases
Orientation:
Minus strand

Previous Assembly
chr11:113,558,272-113,577,030
(GRCh37/hg19 by Entrez Gene)
Size:
18,759 bases
Orientation:
Minus strand

chr11:113,558,272-113,577,095
(GRCh37/hg19 by Ensembl)
Size:
18,824 bases
Orientation:
Minus strand

Genomic View for TMPRSS5 Gene

Genes around TMPRSS5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMPRSS5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMPRSS5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMPRSS5 Gene

Proteins for TMPRSS5 Gene

  • Protein details for TMPRSS5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H3S3-TMPS5_HUMAN
    Recommended name:
    Transmembrane protease serine 5
    Protein Accession:
    Q9H3S3

    Protein attributes for TMPRSS5 Gene

    Size:
    457 amino acids
    Molecular mass:
    49560 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TMPRSS5 Gene

Selected DME Specific Peptides for TMPRSS5 Gene

Q9H3S3:
  • LVGVVSWG
  • DACQGDSGG
  • GDSGGPL
  • WVVTAAHC
  • SGGPLVC
  • TPRMLCAG
  • CQGDSGGP

Post-translational modifications for TMPRSS5 Gene

  • Glycosylation at Asn163, Asn170, Asn195, Asn319, and Asn375
  • Modification sites at PhosphoSitePlus

Domains & Families for TMPRSS5 Gene

Gene Families for TMPRSS5 Gene

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

Protein Domains for TMPRSS5 Gene

InterPro:
Blocks:
  • Serine protease, trypsin family
  • Chymotrypsin serine protease family (S1) signature
ProtoNet:

Suggested Antigen Peptide Sequences for TMPRSS5 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protease, serine 5 (B0YJB1_HUMAN)
  • TMPRSS5 protein (Q0P513_HUMAN)
  • TMPRSS5 protein (Q0P514_HUMAN)
  • Spinesin (TMPS5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H3S3

UniProtKB/Swiss-Prot:

TMPS5_HUMAN :
  • Belongs to the peptidase S1 family.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with TMPRSS5: view

Function for TMPRSS5 Gene

Molecular function for TMPRSS5 Gene

UniProtKB/Swiss-Prot Function:
May play a role in hearing.

Enzyme Numbers (IUBMB) for TMPRSS5 Gene

Phenotypes From GWAS Catalog for TMPRSS5 Gene

Gene Ontology (GO) - Molecular Function for TMPRSS5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA --
GO:0005044 scavenger receptor activity IEA --
GO:0008233 peptidase activity IEA,IMP 17918732
GO:0008236 serine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with TMPRSS5: view
genes like me logo Genes that share phenotypes with TMPRSS5: view

Animal Models for research

  • Taconic Biosciences Mouse Models for TMPRSS5

miRNA for TMPRSS5 Gene

miRTarBase miRNAs that target TMPRSS5

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMPRSS5

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMPRSS5 Gene

Localization for TMPRSS5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMPRSS5 Gene

Cell 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 TMPRSS5 gene
Compartment Confidence
plasma membrane 5
extracellular 2
nucleus 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TMPRSS5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA,IDA 17918732
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with TMPRSS5: view

Pathways & Interactions for TMPRSS5 Gene

PathCards logo

SuperPathways for TMPRSS5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMPRSS5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA,IMP 17918732
GO:0006897 endocytosis IEA --
genes like me logo Genes that share ontologies with TMPRSS5: view

No data available for Pathways by source and SIGNOR curated interactions for TMPRSS5 Gene

Drugs & Compounds for TMPRSS5 Gene

No Compound Related Data Available

Transcripts for TMPRSS5 Gene

mRNA/cDNA for TMPRSS5 Gene

5 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
13 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 TMPRSS5

Alternative Splicing Database (ASD) splice patterns (SP) for TMPRSS5 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - -
SP4: - - - - -
SP5: -
SP6:
SP7: -

Relevant External Links for TMPRSS5 Gene

GeneLoc Exon Structure for
TMPRSS5

Expression for TMPRSS5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMPRSS5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMPRSS5 Gene

This gene is overexpressed in Nerve - Tibial (x8.9) and Brain - Substantia nigra (x4.5).

Protein differential expression in normal tissues from HIPED for TMPRSS5 Gene

This gene is overexpressed in Fetal gut (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TMPRSS5 Gene



Protein tissue co-expression partners for TMPRSS5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMPRSS5

SOURCE GeneReport for Unigene cluster for TMPRSS5 Gene:

Hs.46720

mRNA Expression by UniProt/SwissProt for TMPRSS5 Gene:

Q9H3S3-TMPS5_HUMAN
Tissue specificity: Brain-specific. Predominantly expressed in neurons, in their axons, and at the synapses of motoneurons in the spinal cord.

Evidence on tissue expression from TISSUES for TMPRSS5 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with TMPRSS5: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TMPRSS5 Gene

Orthologs for TMPRSS5 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMPRSS5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TMPRSS5 30
  • 95.51 (n)
Dog
(Canis familiaris)
Mammalia TMPRSS5 30 31
  • 84.51 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TMPRSS5 30 31
  • 81.7 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tmprss5 30
  • 81.41 (n)
Mouse
(Mus musculus)
Mammalia Tmprss5 30 17 31
  • 80.66 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TMPRSS5 31
  • 51 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TMPRSS5 30 31
  • 64.88 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TMPRSS5 31
  • 44 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii LOC569688 30
  • 58.46 (n)
TMPRSS5 31
  • 37 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Try29F 32
  • 39 (a)
CG4613 32
  • 38 (a)
CG8170 32
  • 37 (a)
CG4386 32
  • 37 (a)
CG18735 32
  • 36 (a)
CG6041 32
  • 36 (a)
CG6048 32
  • 35 (a)
CG4914 32
  • 35 (a)
CG10663 32
  • 34 (a)
Tequila 32
  • 34 (a)
CG10405 32
  • 34 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004770 30
  • 30.52 (n)
Species where no ortholog for TMPRSS5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TMPRSS5 Gene

ENSEMBL:
Gene Tree for TMPRSS5 (if available)
TreeFam:
Gene Tree for TMPRSS5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMPRSS5: view image

Paralogs for TMPRSS5 Gene

genes like me logo Genes that share paralogs with TMPRSS5: view

Variants for TMPRSS5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMPRSS5 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs11214703 Benign: not specified 113,690,303(-) G/A
NM_030770.4(TMPRSS5):c.1134C>T (p.Cys378=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs115577137 Benign: not provided 113,690,294(-) G/A
NM_030770.4(TMPRSS5):c.1143C>T (p.Ser381=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs115604269 Benign: not specified; not provided 113,696,977(-) C/T
NM_030770.4(TMPRSS5):c.465-6G>A
INTRON
rs115825770 Benign: not specified; not provided 113,689,755(-) C/T
NM_030770.4(TMPRSS5):c.1359+10G>A
INTRON
rs11600570 Benign: not provided 113,693,290(-) G/A
NM_030770.4(TMPRSS5):c.786-41C>T
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TMPRSS5 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 TMPRSS5 Gene

Variant ID Type Subtype PubMed ID
esv3627779 CNV loss 21293372
nsv951072 CNV deletion 24416366

Variation tolerance for TMPRSS5 Gene

Gene Damage Index Score: 4.09; 61.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMPRSS5 Gene

Human Gene Mutation Database (HGMD)
TMPRSS5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMPRSS5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMPRSS5 Gene

Disorders for TMPRSS5 Gene

MalaCards: The human disease database

(5) MalaCards diseases for TMPRSS5 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TMPS5_HUMAN
  • Note=Defects in TMPRSS5 may be a cause of deafness. {ECO:0000269 PubMed:17918732}.

Additional Disease Information for TMPRSS5

Genetic Association Database
(GAD)
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 TMPRSS5: view

No data available for Genatlas for TMPRSS5 Gene

Publications for TMPRSS5 Gene

  1. Spinesin/TMPRSS5, a novel transmembrane serine protease, cloned from human spinal cord. (PMID: 11741986) Yamaguchi N … Mitsui S (The Journal of biological chemistry 2002) 3 4 23
  2. An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss. (PMID: 17918732) Guipponi M … Scott HS (Human mutation 2008) 3 4
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  4. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3
  5. Gsk3β and Tomm20 are substrates of the SCFFbxo7/PARK15 ubiquitin ligase associated with Parkinson's disease. (PMID: 27503909) Teixeira FR … Laman H (The Biochemical journal 2016) 3

Products for TMPRSS5 Gene

Sources for TMPRSS5 Gene