Format

Send to:

Choose Destination

TMPRSS2 transmembrane serine protease 2 [ Homo sapiens (human) ]

Gene ID: 7113, updated on 13-Mar-2020

Summary

Official Symbol
TMPRSS2provided by HGNC
Official Full Name
transmembrane serine protease 2provided by HGNC
Primary source
HGNC:HGNC:11876
See related
Ensembl:ENSG00000184012 MIM:602060
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PP9284; PRSS10
Summary
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]
Expression
Biased expression in prostate (RPKM 167.2), colon (RPKM 59.9) and 10 other tissues See more
Orthologs

Genomic context

See TMPRSS2 in Genome Data Viewer
Location:
21q22.3
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (41464305..41508158, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (42836236..42880085, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene MX dynamin like GTPase 2 Neighboring gene MX dynamin like GTPase 1 Neighboring gene transmembrane protease serine 2 breakpoint cluster recombination region Neighboring gene uncharacterized LOC105372809 Neighboring gene prostate cancer expressed EZH2 associated transcript Neighboring gene uncharacterized LOC105372812

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.
NHGRI GWA Catalog
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ41954

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
scavenger receptor activity IEA
Inferred from Electronic Annotation
more info
 
serine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
serine-type peptidase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
endocytosis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of viral entry into host cell IDA
Inferred from Direct Assay
more info
PubMed 
protein autoprocessing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein autoprocessing IMP
Inferred from Mutant Phenotype
more info
PubMed 
proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
transmembrane protease serine 2
Names
epitheliasin
serine protease 10
transmembrane protease, serine 2
NP_001128571.1
NP_005647.3

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_047085.2 RefSeqGene

    Range
    27959..71812
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1368

mRNA and Protein(s)

  1. NM_001135099.1NP_001128571.1  transmembrane protease serine 2 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AA904080, AF270487, BC051839, DC382934
    Consensus CDS
    CCDS54486.1
    UniProtKB/Swiss-Prot
    O15393
    Related
    ENSP00000381588.3, ENST00000398585.7
    Conserved Domains (5) summary
    smart00020
    Location:292521
    Tryp_SPc; Trypsin-like serine protease
    cd00112
    Location:150185
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    cd00190
    Location:293524
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam12868
    Location:4491
    DUF3824; Domain of unknwon function (DUF3824)
    pfam15494
    Location:190283
    SRCR_2; Scavenger receptor cysteine-rich domain
  2. NM_005656.4NP_005647.3  transmembrane protease serine 2 isoform 2

    See identical proteins and their annotated locations for NP_005647.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' exon and uses a downstream AUG start codon, as compared to variant 1. The resulting isoform (2) has a shorter N-terminus, as compared to isoform 1.
    Source sequence(s)
    AF270487, AP001610, BC051839, BP276431
    Consensus CDS
    CCDS33564.1
    UniProtKB/Swiss-Prot
    O15393
    Related
    ENSP00000330330.5, ENST00000332149.10
    Conserved Domains (3) summary
    cd00112
    Location:113148
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    cd00190
    Location:256487
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam15494
    Location:153246
    SRCR_2; Scavenger receptor cysteine-rich domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    41464305..41508158 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center