| Name | transmembrane protease, serine 2 |
| Symbol | TMPRSS2 |
| Aliases | PRSS10; epitheliasin |
| Gene Product | - transmembrane protease, serine 2
|
| Category | - Mutation in Prostate cancer
|
| UniGene | Hs.318545 |
| OMIM | 602060 |
| Locus | 7113 |
| 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. The biological function of this gene is unknown. |
| Gene Ontology | |
| Expression | | EST (129 ESTs, 69 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| blood (1/27) |  | 1/40686 |
| colon (16/853) | | 22/165626 |
| eye (1/33) | | 1/93836 |
| kidney (3/86) | | 4/132968 |
| lung (4/312) | | 4/245386 |
| muscle (1/21) | | 1/71297 |
| nervous (1/475) | | 1/43438 |
| pancreas (2/33) | | 3/117255 |
| prostate (22/291) |  | 60/109871 |
| stomach (7/312) | | 16/129930 |
| uncharacterized tissue (7/1773) | | 11/713325 |
| uterus (4/212) | | 5/155110 |
|
| SAGE (4962347 tags, 96 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| blood (1/1) | | 1/48523 |
| brain (10/19) | | 19/690223 |
| colon (4/8) | | 24/305765 |
| eye (2/6) | | 3/162020 |
| kidney (2/2) | | 4/115792 |
| liver (1/1) | | 6/133722 |
| lung (1/1) | | 7/89143 |
| mammary gland (11/19) | | 22/734050 |
| muscle (1/2) | | 1/53853 |
| ovary (1/10) | | 1/42445 |
| pancreas (7/8) | | 10/320774 |
| prostate (11/13) | | 90/1199107 |
| skin (1/7) | | 1/13259 |
| stomach (3/3) | | 14/393967 |
| uncharacterized tissue (9/22) | | 25/472953 |
| vascular (3/3) | | 4/186751 |
|
|
| SNP | rs456298 (T/A:mrna-utr); rs391099 (C/T:intron); rs2257202 (T/C:intron); rs465576 (C/A:intron); rs389001 (G/A:mrna-utr); rs2156300 (T/C:intron); rs456142 (T/C:mrna-utr); rs2187238 (T/C:mrna-utr); rs417888 (A/G:intron); rs402197 (T/C:intron); rs374805 (G/A:intron); rs381179 (T/C:intron); rs392370 (C/A:intron); rs457909 (A/G:intron); rs386416 (G/C:intron); rs915823 (A/C:intron); rs401371 (C/G:intron); rs455045 (T/C:intron); rs378501 (A/G:intron); rs462471 (G/A:locus-region); rs2104810 (G/A:intron); rs415731 (A/G:intron); rs430915 (A/G:intron); rs462321 (C/G:intron); rs383510 (T/C:intron); rs402303 (C/T:intron); rs455281 (G/T:intron); rs462574 (G/A:mrna-utr); rs734055 (A/C:intron); rs467375 (G/A:intron); rs386519 (A/G:intron); rs415918 (T/C:intron); rs2094881 (T/C:intron); rs423596 (T/C:intron); rs462448 (C/T:intron); rs2070786 (C/T:intron); rs429442 (G/C:mrna-utr); rs456016 (T/C:intron); rs1003030 (C/T:intron); rs875393 (C/T:intron); rs2298857 (G/A:intron); rs386638 (C/T:intron); rs422761 (G/A:mrna-utr); rs3037873 (GG/-:intron); rs435877 (G/C:mrna-utr); rs387438 (A/G:intron); rs458280 (T/G:intron); rs464431 (G/A:intron); rs2298658 (A/C:intron); rs1056602 (G/C:coding-nonsyn); rs455922 (T/C:intron); rs2276205 (A/G:intron); rs364289 (G/A:intron); rs458213 (T/A:intron); rs928871 (C/T:intron); rs2838038 (C/T:mrna-utr); rs422471 (T/C:intron); rs387192 (A/G:intron); rs461194 (C/G:intron); rs375760 (G/T:intron); rs2150434 (C/G:mrna-utr); rs400969 (T/G:intron); rs2410428 (A/G:intron); rs914184 (A/G:intron); rs378616 (A/C:mrna-utr); rs463727 (A/T:locus-region); rs951027 (A/G:mrna-utr); rs420737 (A/G:mrna-utr); rs375408 (G/A:intron); rs743542 (C/T:intron); rs395584 (C/T:mrna-utr); |
| Evidence | Mutation in Prostate cancer
|
