Human Gene TMPRSS2 (uc010gos.1) Description and Page Index
  Description: Homo sapiens transmembrane protease, serine 2 (TMPRSS2), transcript variant 2, mRNA.
RefSeq Summary (NM_005656): This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a type II transmembrane domain, a receptor class A domain, a scavenger receptor cysteine-rich domain and a protease domain. Serine proteases are known to be involved in many physiological and pathological processes. This gene was demonstrated to be up-regulated by androgenic hormones in prostate cancer cells and down-regulated in androgen-independent prostate cancer tissue. The protease domain of this protein is thought to be cleaved and secreted into cell media after autocleavage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008].
Transcript (Including UTRs)
   Position: hg19 chr21:42,839,661-42,903,043 Size: 63,383 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg19 chr21:42,839,661-42,870,060 Size: 30,400 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr21:42,839,661-42,903,043)mRNA (may differ from genome)Protein (489 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
OMIMPubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Transmembrane protease serine 2; EC=3.4.21.-; AltName: Full=Serine protease 10; Contains: RecName: Full=Transmembrane protease serine 2 non-catalytic chain; Contains: RecName: Full=Transmembrane protease serine 2 catalytic chain; Flags: Precursor;
SUBCELLULAR LOCATION: Cell membrane; Single-pass type II membrane protein.
SUBCELLULAR LOCATION: Transmembrane protease serine 2 catalytic chain: Secreted. Note=Activated by cleavage and secreted.
TISSUE SPECIFICITY: Expressed strongly in small intestine. Also expressed in prostate, colon, stomach and salivary gland.
SIMILARITY: Belongs to the peptidase S1 family.
SIMILARITY: Contains 1 LDL-receptor class A domain.
SIMILARITY: Contains 1 peptidase S1 domain.
SIMILARITY: Contains 1 SRCR domain.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): TMPRSS2
CDC HuGE Published Literature: TMPRSS2
Positive Disease Associations: Body Height , Lipids , Lipoproteins, HDL , Waist Circumference
Related Studies:
  1. Body Height
    , , . [PubMed 0]
  2. Lipids
    , , . [PubMed 0]
  3. Lipoproteins, HDL
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: TMPRSS2
Diseases sorted by gene-association score: prostatic acinar adenocarcinoma (16), prostate cancer 1 (12), influenza (12), prostate cancer (11), male reproductive organ cancer (9), prostate adenocarcinoma (9), severe acute respiratory syndrome (7), reproductive organ cancer (7), deafness, autosomal recessive 24 (6), small cell carcinoma (6), deafness, autosomal recessive 25 (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 85.73 RPKM in Prostate
Total median expression: 383.93 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -176.30434-0.406 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR023415 - LDLR_class-A_CS
IPR002172 - LDrepeatLR_classA_rpt
IPR009003 - Pept_cys/ser_Trypsin-like
IPR018114 - Peptidase_S1/S6_AS
IPR001254 - Peptidase_S1_S6
IPR001314 - Peptidase_S1A
IPR001190 - Srcr_rcpt
IPR017448 - Srcr_rcpt-rel

Pfam Domains:
PF00089 - Trypsin
PF00530 - Scavenger receptor cysteine-rich domain
PF09342 - Domain of unknown function (DUF1986)
PF15494 - Scavenger receptor cysteine-rich domain

SCOP Domains:
50494 - Trypsin-like serine proteases
56487 - SRCR-like
57424 - LDL receptor-like module

ModBase Predicted Comparative 3D Structure on O15393
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein SequenceProtein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004252 serine-type endopeptidase activity
GO:0005044 scavenger receptor activity
GO:0005515 protein binding
GO:0008233 peptidase activity
GO:0008236 serine-type peptidase activity
GO:0016787 hydrolase activity

Biological Process:
GO:0006508 proteolysis
GO:0006898 receptor-mediated endocytosis
GO:0016540 protein autoprocessing
GO:0046598 positive regulation of viral entry into host cell

Cellular Component:
GO:0005576 extracellular region
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0070062 extracellular exosome

-  Descriptions from all associated GenBank mRNAs
  BC051839 - Homo sapiens transmembrane protease, serine 2, mRNA (cDNA clone MGC:60144 IMAGE:6199625), complete cds.
AF329454 - Homo sapiens epitheliasin (TMPRSS2) mRNA, complete cds.
U75329 - Human serine protease mRNA, complete cds.
AK296860 - Homo sapiens cDNA FLJ56457 complete cds, highly similar to Transmembrane protease, serine 2 precursor (EC 3.4.21.-).
AK222784 - Homo sapiens mRNA for transmembrane protease, serine 2 variant, clone: HEP02362.
AK291813 - Homo sapiens cDNA FLJ78182 complete cds, highly similar to Homo sapiens transmembrane protease, serine 2, mRNA.
AF270487 - Homo sapiens androgen-regulated serine protease TMPRSS2 precursor (TMPRSS2) mRNA, complete cds.
BC035623 - Homo sapiens transmembrane protease, serine 2, mRNA (cDNA clone IMAGE:5187060).
HQ448630 - Synthetic construct Homo sapiens clone IMAGE:100072069; CCSB011816_03 transmembrane protease, serine 2 (TMPRSS2) gene, encodes complete protein.
KJ897688 - Synthetic construct Homo sapiens clone ccsbBroadEn_07082 TMPRSS2 gene, encodes complete protein.
AF123453 - Homo sapiens transmembrane serine protease 2 (TMPRSS2) mRNA, complete cds.
AK313338 - Homo sapiens cDNA, FLJ93860, highly similar to Homo sapiens transmembrane protease, serine 2 (TMPRSS2), mRNA.
CU690854 - Synthetic construct Homo sapiens gateway clone IMAGE:100021458 5' read TMPRSS2 mRNA.
BC015819 - Homo sapiens transmembrane protease, serine 2, mRNA (cDNA clone IMAGE:4273327), with apparent retained intron.
EU314931 - Homo sapiens TMPRSS2/ETV5 fusion isoform c mRNA, complete sequence.
EU314930 - Homo sapiens TMPRSS2/ETV5 fusion isoform b mRNA, complete sequence.
HM245389 - Homo sapiens TMPRSS2-FKBP5 breakpoint junction transcript variant 3 and FKBP5-ERG breakpoint junction transcript variant 3 mRNA sequence.
HM245390 - Homo sapiens TMPRSS2-FKBP5 breakpoint junction transcript variant 4 and FKBP5-ERG breakpoint junction transcript variant 4 mRNA sequence.
EU090249 - Homo sapiens TMPRSS2/ETV1 fusion mRNA, partial sequence.
AK092554 - Homo sapiens cDNA FLJ35235 fis, clone PROST2001599.
DQ204771 - Homo sapiens TMPRSS2/ETV1b fusion transcript.

-  Other Names for This Gene
  Alternate Gene Symbols: AK313338, B2R8E5, D3DSJ2, NM_005656, NP_005647, O15393, PRSS10, Q6GTK7, Q9BXX1, TMPS2_HUMAN
UCSC ID: uc010gos.1
RefSeq Accession: NM_005656
Protein: O15393 (aka TMPS2_HUMAN or TMS2_HUMAN)
CCDS: CCDS33564.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: AK313338.1
exon count: 14CDS single in 3' UTR: no RNA size: 1913
ORF size: 1467CDS single in intron: no Alignment % ID: 99.95
txCdsPredict score: 3038.00frame shift in genome: no % Coverage: 99.37
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: no retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.