| Name | MAD, mothers against decapentaplegic homolog 2 (Drosophila) |
| Symbol | MADH2 |
| Aliases | JV18; MADR2; SMAD2; JV18-1; Mothers against decapentaplegic, Drosophila, homolog of, 2; MAD (mothers against decapentaplegic, Drosophila) homolog 2 |
| Gene Product | - MAD, mothers against decapentaplegic homolog 2
|
| Category | - Mutation in Prostate cancer
|
| UniGene | Hs.82483 |
| OMIM | 601366 |
| Locus | 4087 |
| Summary | Member of the Smad family of proteins; may affect transcription in response to TGF-beta superfamily signaling pathways, may be a tumor suppressor |
| Gene Ontology | |
| Expression | | EST (188 ESTs, 99 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| blood (1/27) |  | 1/40686 |
| bone marrow (2/263) | | 2/38555 |
| brain (6/204) | | 15/362011 |
| cervix (1/7) | | 5/28115 |
| colon (10/853) | | 12/165626 |
| embryo (1/19) | | 2/37976 |
| eye (3/33) | | 3/93836 |
| germ cell (2/7) | | 2/57383 |
| head and neck (3/990) | | 9/79796 |
| kidney (3/86) | | 5/132968 |
| liver (1/38) | | 1/46472 |
| lung (8/312) | | 10/245386 |
| mammary gland (1/1) | | 2/2313 |
| muscle (2/21) | | 2/71297 |
| nervous (1/475) | | 1/43438 |
| oral cavity (1/18) | | 9/44567 |
| ovary (4/144) | | 4/81880 |
| pancreas (2/33) | | 3/117255 |
| parathyroid (1/4) | | 2/19377 |
| placenta (5/342) | | 20/157762 |
| prostate (6/291) |  | 10/109871 |
| spleen (1/7) | | 1/9511 |
| stomach (5/312) | | 9/129930 |
| testis (3/171) | | 4/117531 |
| uncharacterized tissue (24/1773) | | 52/713325 |
| uterus (2/212) | | 2/155110 |
|
| SAGE (9055207 tags, 174 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| blood (1/1) | | 1/48523 |
| brain (16/19) | | 45/2339426 |
| cerebellum (1/1) | | 3/153840 |
| colon (7/8) | | 11/542310 |
| eye (5/6) | | 13/756250 |
| foreskin (2/2) | | 2/19256 |
| heart (1/1) | | 3/168714 |
| kidney (1/2) | | 1/41857 |
| liver (1/1) | | 1/66861 |
| lung (1/1) | | 5/267429 |
| mammary gland (9/19) | | 21/986577 |
| muscle (1/2) | | 1/53853 |
| ovary (7/10) | | 16/347968 |
| pancreas (4/8) | | 8/245771 |
| prostate (12/13) | | 30/1083710 |
| skin (3/7) | | 5/59936 |
| stomach (2/3) | | 4/272930 |
| uncharacterized tissue (13/22) | | 27/1121336 |
| vascular (3/3) | | 9/478660 |
|
|
| SNP | rs1792672 (A/C:intron); rs1787191 (A/T:intron); rs1787185 (T/C:locus-region); rs1787176 (G/A:intron); rs1804712 (G/A:mrna-utr); rs2298816 (T/C:mrna-utr); rs1970666 (A/G:intron); rs1792681 (T/C:mrna-utr); rs1792667 (A/G:intron); rs15003 (G/T:mrna-utr); rs2282656 (A/G:coding-nonsyn); rs1613672 (T/C:intron); rs956860 (C/T:intron); rs1631576 (C/T:intron); rs1792653 (C/A:intron); |
| Evidence | Mutation in Prostate cancer
|
