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

Aliases for TMPRSS3 Gene

Aliases for TMPRSS3 Gene

  • Transmembrane Protease, Serine 3 2 3 5
  • Tumor-Associated Differentially-Expressed Gene 12 Protein 3 4
  • Serine Protease TADG-12 3 4
  • ECHOS1 3 4
  • TADG12 3 4
  • EC 3.4.21.- 4
  • EC 3.4.21 63
  • DFNB10 3
  • DFNB8 3

External Ids for TMPRSS3 Gene

Previous HGNC Symbols for TMPRSS3 Gene

  • DFNB10
  • DFNB8

Previous GeneCards Identifiers for TMPRSS3 Gene

  • GC21M040339
  • GC21M042686
  • GC21M042665
  • GC21M043791
  • GC21M029209
  • GC21M038437

Summaries for TMPRSS3 Gene

Entrez Gene Summary for TMPRSS3 Gene

  • This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. 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 by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochlea and many other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also identified as a tumor-associated gene that is overexpressed in ovarian tumors. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]

GeneCards Summary for TMPRSS3 Gene

TMPRSS3 (Transmembrane Protease, Serine 3) is a Protein Coding gene. Diseases associated with TMPRSS3 include Deafness, Autosomal Recessive 8/10 and Dfnb 8/10 Nonsyndromic Hearing Loss And Deafness. GO annotations related to this gene include serine-type endopeptidase activity and sodium channel regulator activity. An important paralog of this gene is TMPRSS11A.

UniProtKB/Swiss-Prot for TMPRSS3 Gene

  • Probable serine protease that plays a role in hearing. Acts as a permissive factor for cochlear hair cell survival and activation at the onset of hearing and is required for saccular hair cell survival (By similarity). Activates ENaC (in vitro).

Gene Wiki entry for TMPRSS3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMPRSS3 Gene

Genomics for TMPRSS3 Gene

Regulatory Elements for TMPRSS3 Gene

Enhancers for TMPRSS3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TMPRSS3 on UCSC Golden Path with GeneCards custom track

Promoters for TMPRSS3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TMPRSS3 on UCSC Golden Path with GeneCards custom track

Genomic Location for TMPRSS3 Gene

Chromosome:
21
Start:
42,371,887 bp from pter
End:
42,396,846 bp from pter
Size:
24,960 bases
Orientation:
Minus strand

Genomic View for TMPRSS3 Gene

Genes around TMPRSS3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMPRSS3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMPRSS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMPRSS3 Gene

Proteins for TMPRSS3 Gene

  • Protein details for TMPRSS3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P57727-TMPS3_HUMAN
    Recommended name:
    Transmembrane protease serine 3
    Protein Accession:
    P57727
    Secondary Accessions:
    • D3DSJ6
    • Q5USC7
    • Q6ZMC3

    Protein attributes for TMPRSS3 Gene

    Size:
    454 amino acids
    Molecular mass:
    49405 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TMPRSS3 Gene

neXtProt entry for TMPRSS3 Gene

Proteomics data for TMPRSS3 Gene at MOPED

Selected DME Specific Peptides for TMPRSS3 Gene

Post-translational modifications for TMPRSS3 Gene

Other Protein References for TMPRSS3 Gene

Domains & Families for TMPRSS3 Gene

Gene Families for TMPRSS3 Gene

Suggested Antigen Peptide Sequences for TMPRSS3 Gene

Graphical View of Domain Structure for InterPro Entry

P57727

UniProtKB/Swiss-Prot:

TMPS3_HUMAN :
  • Contains 1 LDL-receptor class A domain.
  • Belongs to the peptidase S1 family.
Domain:
  • Contains 1 LDL-receptor class A domain.
  • Contains 1 peptidase S1 domain.
  • Contains 1 SRCR domain.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with TMPRSS3: view

Function for TMPRSS3 Gene

Molecular function for TMPRSS3 Gene

UniProtKB/Swiss-Prot Function:
Probable serine protease that plays a role in hearing. Acts as a permissive factor for cochlear hair cell survival and activation at the onset of hearing and is required for saccular hair cell survival (By similarity). Activates ENaC (in vitro).

Enzyme Numbers (IUBMB) for TMPRSS3 Gene

Gene Ontology (GO) - Molecular Function for TMPRSS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with TMPRSS3: view
genes like me logo Genes that share phenotypes with TMPRSS3: view

Human Phenotype Ontology for TMPRSS3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for TMPRSS3

CRISPR Products

miRNA for TMPRSS3 Gene

miRTarBase miRNAs that target TMPRSS3

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for TMPRSS3 Gene

Localization for TMPRSS3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMPRSS3 Gene

Endoplasmic reticulum membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMPRSS3 Gene COMPARTMENTS Subcellular localization image for TMPRSS3 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
cytosol 2
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TMPRSS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with TMPRSS3: view

Pathways & Interactions for TMPRSS3 Gene

SuperPathways for TMPRSS3 Gene

No Data Available

Interacting Proteins for TMPRSS3 Gene

Gene Ontology (GO) - Biological Process for TMPRSS3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TMPRSS3 Gene

Drugs & Compounds for TMPRSS3 Gene

(1) Drugs for TMPRSS3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with TMPRSS3: view

Transcripts for TMPRSS3 Gene

Unigene Clusters for TMPRSS3 Gene

Transmembrane protease, serine 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TMPRSS3 Gene

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

Relevant External Links for TMPRSS3 Gene

GeneLoc Exon Structure for
TMPRSS3
ECgene alternative splicing isoforms for
TMPRSS3

Expression for TMPRSS3 Gene

mRNA expression in normal human tissues for TMPRSS3 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TMPRSS3 Gene



SOURCE GeneReport for Unigene cluster for TMPRSS3 Gene Hs.208600

mRNA Expression by UniProt/SwissProt for TMPRSS3 Gene

P57727-TMPS3_HUMAN
Tissue specificity: Expressed in many tissues including fetal cochlea. Isoform T is found at increased levels in some carcinomas.
genes like me logo Genes that share expression patterns with TMPRSS3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Protein tissue co-expression partners for TMPRSS3 Gene

Orthologs for TMPRSS3 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMPRSS3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TMPRSS3 35
  • 86.09 (n)
  • 90.73 (a)
TMPRSS3 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMPRSS3 35
  • 84.99 (n)
  • 89.62 (a)
TMPRSS3 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmprss3 35
  • 84.55 (n)
  • 88.96 (a)
Tmprss3 16
Tmprss3 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TMPRSS3 35
  • 98.6 (n)
  • 98.9 (a)
TMPRSS3 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmprss3 35
  • 84.03 (n)
  • 88.96 (a)
oppossum
(Monodelphis domestica)
Mammalia TMPRSS3 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMPRSS3 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMPRSS3 35
  • 65.62 (n)
  • 60.71 (a)
TMPRSS3 36
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmprss3 35
  • 61.78 (n)
  • 56.21 (a)
zebrafish
(Danio rerio)
Actinopterygii tmprss3a 35
  • 58.75 (n)
  • 53.83 (a)
TMPRSS3 (1 of 3) 36
  • 45 (a)
OneToMany
tmprss3a 36
  • 54 (a)
OneToMany
tmprss3a 36
  • 41 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG10472 37
  • 37 (a)
CG11192 37
  • 37 (a)
CG11824 37
  • 38 (a)
CG1299 37
  • 35 (a)
CG13744 37
  • 36 (a)
CG18065 37
  • 37 (a)
CG3355 37
  • 42 (a)
CG4613 37
  • 38 (a)
CG6048 37
  • 41 (a)
CG6865 37
  • 35 (a)
CG7432 37
  • 34 (a)
CG7542 37
  • 35 (a)
CG7829 37
  • 34 (a)
CG8170 37
  • 37 (a)
CG8213 37
  • 35 (a)
lgrTry 37
  • 38 (a)
Tequila 37
  • 35 (a)
CG3355 35
  • 52.65 (n)
  • 46.35 (a)
Species with no ortholog for TMPRSS3:
  • 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)
  • lizard (Anolis carolinensis)
  • 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 TMPRSS3 Gene

ENSEMBL:
Gene Tree for TMPRSS3 (if available)
TreeFam:
Gene Tree for TMPRSS3 (if available)

Paralogs for TMPRSS3 Gene

genes like me logo Genes that share paralogs with TMPRSS3: view

Variants for TMPRSS3 Gene

Sequence variations from dbSNP and Humsavar for TMPRSS3 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs928302 - 42,389,975(+) AATGA(C/T)GATGA nc-transcript-variant, upstream-variant-2KB, reference, missense
VAR_011678 Deafness, autosomal recessive, 8 (DFNB8)
VAR_011679 Deafness, autosomal recessive, 8 (DFNB8)
rs2839500 - 42,383,058(+) AGTGA(C/T)GATCC nc-transcript-variant, reference, missense
VAR_013490 Deafness, autosomal recessive, 8 (DFNB8)

Structural Variations from Database of Genomic Variants (DGV) for TMPRSS3 Gene

Variant ID Type Subtype PubMed ID
nsv913792 CNV Loss 21882294
esv1143434 CNV Insertion 17803354
esv1082026 CNV Insertion 17803354

Variation tolerance for TMPRSS3 Gene

Residual Variation Intolerance Score: 73.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.50; 94.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMPRSS3 Gene

Human Gene Mutation Database (HGMD)
TMPRSS3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMPRSS3 Gene

Disorders for TMPRSS3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for TMPRSS3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 8/10
  • deafness, autosomal recessive, 8
dfnb 8/10 nonsyndromic hearing loss and deafness
  • dfnb 10 nonsyndromic hearing loss and deafness
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
nonsyndromic deafness
  • nonsyndromic hearing loss
autosomal recessive nonsyndromic deafness
  • autosomal recessive deafness
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TMPS3_HUMAN
  • Deafness, autosomal recessive, 8 (DFNB8) [MIM:601072]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:11424922, ECO:0000269 PubMed:11462234, ECO:0000269 PubMed:11907649, ECO:0000269 PubMed:12393794, ECO:0000269 PubMed:16021470}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TMPRSS3

Genetic Association Database (GAD)
TMPRSS3
Human Genome Epidemiology (HuGE) Navigator
TMPRSS3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMPRSS3
genes like me logo Genes that share disorders with TMPRSS3: view

No data available for Genatlas for TMPRSS3 Gene

Publications for TMPRSS3 Gene

  1. Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. (PMID: 11907649) Wattenhofer M. … Antonarakis S.E. (J. Mol. Med. 2002) 2 3 4 23 48 67
  2. Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness. (PMID: 11462234) Masmoudi S. … Guipponi M. (Hum. Mutat. 2001) 2 3 23
  3. Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings. (PMID: 17551081) Elbracht M. … Zerres K. (J. Med. Genet. 2007) 3 23
  4. The transmembrane protease serine (TMPRSS3/TADG-12) D variant: a potential candidate for diagnosis and therapeutic intervention in ovarian cancer. (PMID: 15361711) Sawasaki T. … O'Brien T.J. (Tumour Biol. 2004) 3 23
  5. Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan. (PMID: 15447792) Ahmed Z.M. … Wilcox E.R. (BMC Med. Genet. 2004) 3 23

Products for TMPRSS3 Gene

Sources for TMPRSS3 Gene

Content