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 ... See more...

Aliases for TMPRSS3 Gene

Aliases for TMPRSS3 Gene

  • Transmembrane Serine Protease 3 2 3 5
  • Tumor-Associated Differentially-Expressed Gene 12 Protein 3 4
  • Transmembrane Protease, Serine 3 2 3
  • Transmembrane Protease Serine 3 3 4
  • Serine Protease TADG-12 3 4
  • ECHOS1 3 4
  • TADG12 3 4
  • EC 3.4.21.- 4
  • EC 3.4.21 54
  • 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 Serine Protease 3) is a Protein Coding gene. Diseases associated with TMPRSS3 include Deafness, Autosomal Recessive 8 and Nonsyndromic Deafness. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and sodium channel regulator activity. An important paralog of this gene is TMPRSS2.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for TMPRSS3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMPRSS3 Gene

Genomics for TMPRSS3 Gene

GeneHancer (GH) Regulatory Elements for TMPRSS3 Gene

Promoters and enhancers for TMPRSS3 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
GH21J042383 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 757 +9.7 9717 6.9 CTCF FOXA1 MLX RBPJ NR2F1 NR2F6 HLF TEAD4 RERE ELF3 TMPRSS3 TFF2 TFF3 lnc-TFF1-3
GH21J042394 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 755.9 +0.9 880 2.9 POLR2A MLLT1 CEBPB CHD2 JUN RCOR1 NFYB EP300 DEK STAT1 TMPRSS3 TFF2 lnc-TFF1-3
GH21J042399 Enhancer 0.8 ENCODE CraniofacialAtlas dbSUPER 750.6 -1.8 -1823 0.9 NR2F6 L3MBTL2 NR2C1 NFE2 MGA MAFG TMPRSS3 TFF1 TFF2 UBASH3A
GH21J042398 Enhancer 0.7 ENCODE dbSUPER 750.6 -1.3 -1261 0.2 L3MBTL2 ZNF316 NFE2 MGA MAFG SMARCA4 EMSY TMPRSS3 TFF2 UBASH3A
GH21J042448 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.1 -53.1 -53133 2.8 ZNF785 CTCF MLX SMARCE1 MIXL1 ZNF362 CC2D1A L3MBTL2 MAX RAD21 ENSG00000227698 PRDM15 WDR4 U2AF1 TMPRSS3 TFF3 TFF2 ENSG00000239930 RSPH1 SLC37A1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMPRSS3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMPRSS3 gene promoter:
  • GATA-3
  • GCNF
  • GCNF-1
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • POU2F1
  • POU2F1a

Genomic Locations for TMPRSS3 Gene

Genomic Locations for TMPRSS3 Gene
chr21:42,371,837-42,396,846
(GRCh38/hg38)
Size:
25,010 bases
Orientation:
Minus strand
chr21:43,791,996-43,816,955
(GRCh37/hg19)
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

Selected DME Specific Peptides for TMPRSS3 Gene

P57727:
  • GDSGGPL
  • SGGPLVC
  • DSCQGDSGG
  • CQGDSGGP

Post-translational modifications for TMPRSS3 Gene

Other Protein References for TMPRSS3 Gene

Domains & Families for TMPRSS3 Gene

Gene Families for TMPRSS3 Gene

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

Suggested Antigen Peptide Sequences for TMPRSS3 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protease serine 3 isoform 5 (Q5USC7_HUMAN)
  • Tumor-associated differentially-expressed gene 12 protein (TMPS3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P57727

UniProtKB/Swiss-Prot:

TMPS3_HUMAN :
  • Belongs to the peptidase S1 family.
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

Phenotypes From GWAS Catalog for TMPRSS3 Gene

Gene Ontology (GO) - Molecular Function for TMPRSS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity NAS 11068177
GO:0005044 scavenger receptor activity IEA --
GO:0005515 protein binding IEA --
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity 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

Clone Products

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
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 TMPRSS3 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
extracellular 1
cytosol 1
mitochondrion 0
peroxisome 0
nucleus 0

Gene Ontology (GO) - Cellular Components for TMPRSS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA 21873635
GO:0005789 endoplasmic reticulum membrane IDA,IBA 12393794
GO:0016020 membrane IEA --
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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMPRSS3 Gene

Pathways & Interactions for TMPRSS3 Gene

PathCards logo

SuperPathways for TMPRSS3 Gene

No Data Available

Interacting Proteins for TMPRSS3 Gene

Selected Interacting proteins: P57727-TMPS3_HUMAN for TMPRSS3 Gene via IID

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:0006897 endocytosis IEA --
GO:0007605 sensory perception of sound IBA 21873635
genes like me logo Genes that share ontologies with TMPRSS3: view

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

CRISPR Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for TMPRSS3 Gene

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



NURSA nuclear receptor signaling pathways regulating expression of TMPRSS3 Gene:

TMPRSS3

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.

Evidence on tissue expression from TISSUES for TMPRSS3 Gene

  • Lung(4.2)
  • Eye(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TMPRSS3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
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
chimpanzee
(Pan troglodytes)
Mammalia TMPRSS3 33 32
  • 98.6 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TMPRSS3 33 32
  • 86.09 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TMPRSS3 33 32
  • 84.99 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tmprss3 17 33 32
  • 84.55 (n)
rat
(Rattus norvegicus)
Mammalia Tmprss3 32
  • 84.03 (n)
oppossum
(Monodelphis domestica)
Mammalia TMPRSS3 33
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMPRSS3 33
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMPRSS3 33 32
  • 65.62 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmprss3 32
  • 61.78 (n)
zebrafish
(Danio rerio)
Actinopterygii tmprss3a 33 33 32
  • 58.75 (n)
OneToMany
TMPRSS3 (1 of 3) 33
  • 45 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG3355 34 32
  • 52.65 (n)
CG6048 34
  • 41 (a)
CG4613 34
  • 38 (a)
&lgr;Try 34
  • 38 (a)
CG11824 34
  • 38 (a)
CG18065 34
  • 37 (a)
CG10472 34
  • 37 (a)
CG8170 34
  • 37 (a)
CG11192 34
  • 37 (a)
CG13744 34
  • 36 (a)
CG6865 34
  • 35 (a)
CG1299 34
  • 35 (a)
Tequila 34
  • 35 (a)
CG8213 34
  • 35 (a)
CG7542 34
  • 35 (a)
CG7432 34
  • 34 (a)
CG7829 34
  • 34 (a)
Species where no ortholog for TMPRSS3 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TMPRSS3: view image

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 Variation AA Info Type
rs1060499811 pathogenic, Deafness, autosomal recessive 8 42,384,004(-) A/T coding_sequence_variant, stop_gained
rs111033261 uncertain-significance, not specified, Nonsyndromic Hearing Loss, Recessive, Deafness, autosomal recessive 8 42,380,123(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs111033292 benign-likely-benign, uncertain-significance, not specified, not provided 42,376,607(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant
rs113747896 benign, uncertain-significance, not specified, Nonsyndromic Hearing Loss, Recessive 42,376,613(-) G/A/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, synonymous_variant
rs114904237 benign-likely-benign, uncertain-significance, not specified, Nonsyndromic Hearing Loss, Recessive 42,375,754(-) C/G/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv1082026 CNV insertion 17803354
esv1143434 CNV insertion 17803354
nsv1136042 CNV deletion 24896259
nsv953632 CNV deletion 24416366

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)

Additional Variant Information for TMPRSS3 Gene

Human Gene Mutation Database (HGMD)
TMPRSS3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMPRSS3

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

Disorders for TMPRSS3 Gene

MalaCards: The human disease database

(19) MalaCards diseases for TMPRSS3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 8
  • dfnb8
nonsyndromic deafness
  • nonsyndromic hearing loss
non-syndromic genetic deafness
  • isolated genetic deafness
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
deafness, autosomal recessive 98
  • dfnb98
- 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:15447792, ECO:0000269 PubMed:16021470}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TMPRSS3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 SE (Journal of molecular medicine (Berlin, Germany) 2002) 2 3 4 23 43 56
  2. Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness. (PMID: 11462234) Masmoudi S … Guipponi M (Human mutation 2001) 2 3 4 23 56
  3. 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 ZM … Wilcox ER (BMC medical genetics 2004) 3 4 23 56
  4. The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. (PMID: 12393794) Guipponi M … Rossier BC (Human molecular genetics 2002) 3 4 23 56
  5. Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. (PMID: 11137999) Scott HS … Antonarakis SE (Nature genetics 2001) 3 4 23 56

Products for TMPRSS3 Gene

Sources for TMPRSS3 Gene