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Aliases for TMPRSS3 Gene

Aliases for TMPRSS3 Gene

  • ECHOS1 3 4 6
  • Tumor-Associated Differentially-Expressed Gene 12 Protein 3 4
  • Transmembrane Protease, Serine 3 2 3
  • Serine Protease TADG-12 3 4
  • DFNB10 3 6
  • TADG12 3 4
  • DFNB8 3 6
  • Transmembrane Protease Serine 3 3
  • EC 3.4.21.- 4
  • EC 3.4.21 64

External Ids for TMPRSS3 Gene

Previous Symbols for TMPRSS3 Gene

  • DFNB10
  • DFNB8

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 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 HPN.

UniProtKB/Swiss-Prot for TMPRSS3 Gene

  • Probable serine protease that play a role in hearing. Acts as a permissive factor for cochlear hair cells 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

Genomic Location for TMPRSS3 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TMPRSS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMPRSS3 Gene

Regulatory Elements 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 for TMPRSS3 Gene

Gene Families for TMPRSS3 Gene

HGNC:
  • TMPRSS :Serine peptidases / Transmembrane

UniProtKB/Swiss-Prot:

TMPS3_HUMAN
Domain:
  • Contains 1 LDL-receptor class A domain.:
    • P57727
  • Contains 1 peptidase S1 domain.:
    • P57727
  • Contains 1 SRCR domain.:
    • P57727
Family:
  • Belongs to the peptidase S1 family.:
    • P57727
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 play a role in hearing. Acts as a permissive factor for cochlear hair cells 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:0003824 catalytic activity --
GO:0004252 serine-type endopeptidase activity NAS 11068177
GO:0005044 scavenger receptor activity IEA --
GO:0005515 protein binding --
GO:0017080 sodium channel regulator activity IDA 12393794
genes like me logo Genes that share ontologies with TMPRSS3: view
genes like me logo Genes that share phenotypes with TMPRSS3: view

No data available for Animal Models , miRNA , Transcription Factor Targeting 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:0005783 endoplasmic reticulum IDA 16780588
GO:0005789 endoplasmic reticulum membrane IDA 12393794
GO:0016020 membrane --
GO:0016021 integral component of membrane NAS 11068177
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with TMPRSS3: view

Pathways for TMPRSS3 Gene

SuperPathways for TMPRSS3 Gene

No Data Available

Interacting Proteins for TMPRSS3 Gene

Gene Ontology (GO) - Biological Process for TMPRSS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis NAS 11068177
GO:0006883 cellular sodium ion homeostasis IDA 12393794
GO:0006898 receptor-mediated endocytosis IEA --
GO:0007605 sensory perception of sound IEA --
genes like me logo Genes that share ontologies with TMPRSS3: view

No data available for Pathways by source for TMPRSS3 Gene

Compounds for TMPRSS3 Gene

(1) Novoseek inferred chemical compound relationships for TMPRSS3 Gene

Compound -log(P) Hits PubMed IDs
serine 62.6 10
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 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 expressions with TMPRSS3: view

Orthologs for TMPRSS3 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMPRSS3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMPRSS3 36
  • 98.6 (n)
  • 98.9 (a)
TMPRSS3 37
  • 83 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMPRSS3 36
  • 86.09 (n)
  • 90.73 (a)
TMPRSS3 37
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMPRSS3 36
  • 84.99 (n)
  • 89.62 (a)
TMPRSS3 37
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmprss3 36
  • 84.55 (n)
  • 88.96 (a)
Tmprss3 16
Tmprss3 37
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMPRSS3 37
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMPRSS3 37
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmprss3 36
  • 84.03 (n)
  • 88.96 (a)
chicken
(Gallus gallus)
Aves TMPRSS3 36
  • 65.62 (n)
  • 60.71 (a)
TMPRSS3 37
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmprss3 36
  • 61.78 (n)
  • 56.21 (a)
zebrafish
(Danio rerio)
Actinopterygii TMPRSS3 (1 of 3) 37
  • 45 (a)
OneToMany
tmprss3a 36
  • 58.75 (n)
  • 53.83 (a)
tmprss3a 37
  • 54 (a)
OneToMany
tmprss3a 37
  • 41 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG3355 36
  • 52.65 (n)
  • 46.35 (a)
CG10472 38
  • 37 (a)
CG6048 38
  • 41 (a)
CG8170 38
  • 37 (a)
lgrTry 38
  • 38 (a)
Tequila 38
  • 35 (a)
CG1299 38
  • 35 (a)
CG4613 38
  • 38 (a)
CG13744 38
  • 36 (a)
CG3355 38
  • 42 (a)
CG6865 38
  • 35 (a)
CG11192 38
  • 37 (a)
CG8213 38
  • 35 (a)
CG7432 38
  • 34 (a)
CG7829 38
  • 34 (a)
CG7542 38
  • 35 (a)
CG18065 38
  • 37 (a)
CG11824 38
  • 38 (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 MAF
rs186531 -- 42,388,818(-) ATGTC(C/T)TCAGC intron-variant
rs225309 -- 42,372,556(+) ctcca(C/T)ctcaa utr-variant-3-prime, nc-transcript-variant
rs225310 -- 42,373,614(+) AAACA(G/T)CCTGA intron-variant
rs225311 -- 42,373,663(-) TGCAC(A/G)GCAGA intron-variant
rs225312 -- 42,392,052(+) GAAGA(A/T)TGGAA intron-variant

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

Relevant External Links for TMPRSS3 Gene

HapMap Linkage Disequilibrium report
TMPRSS3
Human Gene Mutation Database (HGMD)
TMPRSS3
Locus Specific Mutation Databases (LSDB)
TMPRSS3

Disorders for TMPRSS3 Gene

(1) OMIM Diseases for TMPRSS3 Gene (605511)

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. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for TMPRSS3 Gene

(5) Novoseek inferred disease relationships for TMPRSS3 Gene

Disease -log(P) Hits PubMed IDs
congenital deafness 76.7 2
ovarian carcinoma 46.7 2
ovarian cancer 33 1
carcinoma 10.7 1
tumors 0 2

Relevant External Links for TMPRSS3

Genetic Association Database (GAD)
TMPRSS3
Human Genome Epidemiology (HuGE) Navigator
TMPRSS3
genes like me logo Genes that share disorders with TMPRSS3: view

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 49
  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 4 23
  3. Ovarian tumor cells express a novel multi-domain cell surface serine protease. (PMID: 11068177) Underwood L.J. … O'Brien T.J. (Biochim. Biophys. Acta 2000) 3 4 23
  4. Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. (PMID: 11137999) Scott H.S. … Antonarakis S.E. (Nat. Genet. 2001) 3 4 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 4 23

Products for TMPRSS3 Gene

Sources for TMPRSS3 Gene

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