Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TMPRSS5 Gene

Aliases for TMPRSS5 Gene

  • Transmembrane Protease, Serine 5 2 3 5
  • Spinesin 2 3 4
  • Transmembrane Protease Serine 5 3
  • EC 3.4.21.4 56
  • EC 3.4.21.- 4
  • EC 3.4.21 56

External Ids for TMPRSS5 Gene

Previous GeneCards Identifiers for TMPRSS5 Gene

  • GC11M115911
  • GC11M115070
  • 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 Protease, Serine 5) is a Protein Coding gene. Diseases associated with TMPRSS5 include Deafness, Autosomal Recessive 24 and Deafness, Autosomal Recessive 25. 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 for TMPRSS5 Gene

  • May play a role in hearing.

Additional gene information for TMPRSS5 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMPRSS5 Gene

Genomics for TMPRSS5 Gene

GeneHancer (GH) Regulatory Elements for TMPRSS5 Gene

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
GH11I113705 Promoter/Enhancer 1 EPDnew ENCODE 561.2 +8.5 8460 1.6 SOX5 SOX13 RFX1 RFX3 SMAD4 PPARG ZNF48 TMPRSS5 LRRC37A13P DRD2 MTRF1LP1 LOC105369501
GH11I113662 Enhancer 1.4 Ensembl ENCODE dbSUPER 8.7 +50.1 50084 3.5 PKNOX1 ARNT FEZF1 ZNF766 E2F8 ZNF592 MEF2D SMARCA4 GLIS1 NBN TTC12 TMPRSS5 LRRC37A13P DRD2 MTRF1LP1 LOC105369501
GH11I113680 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 6 +33.1 33078 1.5 PKNOX1 FEZF1 ZNF335 TCF12 ZNF398 TSHZ1 ZNF488 ZNF843 ZNF592 MEF2D DRD2 LRRC37A13P TTC12 LOC105369499 TMPRSS5 MTRF1LP1 LOC105369501
GH11I113725 Enhancer 0.5 ENCODE 8.5 -11.4 -11392 1.2 PRDM6 FOXA2 CBFA2T3 REST TTC12 LOC105369499 RNU6-1107P TMPRSS5 RPS29P19
GH11I114070 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 1.7 -364.4 -364386 16.4 ATF1 FOXA2 FEZF1 ZNF2 YY1 TCF12 ZNF766 GATA2 ATF7 RXRA ENSG00000270179 ZBTB16 TMPRSS5 GC11M114060 LOC101928875
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMPRSS5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMPRSS5 gene promoter:

Genomic Locations for TMPRSS5 Gene

Genomic Locations for TMPRSS5 Gene
chr11:113,687,546-113,714,727
(GRCh38/hg38)
Size:
27,182 bases
Orientation:
Minus strand
chr11:113,558,268-113,577,095
(GRCh37/hg19)

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 isoforms=163, isoforms=170, isoforms=195, isoforms=319, and isoforms=375
  • 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
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for TMPRSS5 Gene

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 IMP,IEA 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 Model Products

  • Taconic Biosciences Mouse Models for TMPRSS5

miRNA for TMPRSS5 Gene

miRTarBase miRNAs that target TMPRSS5

Clone Products

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 1

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 IEA,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

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 IMP,IEA 17918732
GO:0006898 receptor-mediated 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

Unigene Clusters for TMPRSS5 Gene

Transmembrane protease, serine 5:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
TMPRSS5

Expression for TMPRSS5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for TMPRSS5 Gene



Protein tissue co-expression partners for TMPRSS5 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMPRSS5 Gene:

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

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 33
  • 95.51 (n)
dog
(Canis familiaris)
Mammalia TMPRSS5 33 34
  • 84.51 (n)
cow
(Bos Taurus)
Mammalia TMPRSS5 33 34
  • 81.7 (n)
rat
(Rattus norvegicus)
Mammalia Tmprss5 33
  • 81.41 (n)
mouse
(Mus musculus)
Mammalia Tmprss5 33 16 34
  • 80.66 (n)
oppossum
(Monodelphis domestica)
Mammalia TMPRSS5 34
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMPRSS5 33 34
  • 64.88 (n)
lizard
(Anolis carolinensis)
Reptilia TMPRSS5 34
  • 44 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC569688 33
  • 58.46 (n)
TMPRSS5 34
  • 37 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Try29F 35
  • 39 (a)
CG4613 35
  • 38 (a)
CG4386 35
  • 37 (a)
CG8170 35
  • 37 (a)
CG18735 35
  • 36 (a)
CG6041 35
  • 36 (a)
CG4914 35
  • 35 (a)
CG6048 35
  • 35 (a)
CG10405 35
  • 34 (a)
CG10663 35
  • 34 (a)
Tequila 35
  • 34 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004770 33
  • 30.52 (n)
Species where no ortholog for TMPRSS5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)
  • 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)

Paralogs for TMPRSS5 Gene

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

Variants for TMPRSS5 Gene

Sequence variations from dbSNP and Humsavar for TMPRSS5 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000091826 -- 113,688,952(-) G/A intron_variant
rs1000110055 -- 113,704,470(-) A/G intron_variant
rs1000167637 -- 113,695,123(-) T/G intron_variant
rs1000442940 -- 113,704,822(-) C/T intron_variant
rs1000636630 -- 113,687,602(-) C/A 3_prime_UTR_variant, non_coding_transcript_variant

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

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

Disorders for TMPRSS5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TMPRSS5 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
deafness, autosomal recessive 24
  • dfnb24
deafness, autosomal recessive 25
  • dfnb25
- 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

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 22 58
  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 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus. (PMID: 25338677) Kariuki SN … Niewold TB (Genes and immunity 2015) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for TMPRSS5 Gene

Sources for TMPRSS5 Gene

Content
Loading form....