| Name | endothelin receptor type B |
| Symbol | EDNRB |
| Aliases | ETB; ETRB; HSCR; ABCDS; HSCR2; Hirschsprung disease 2 |
| Gene Product | - endothelin receptor type B, isoform 1
- endothelin receptor type B isoform 2
|
| Category | - Methylation in Prostate cancer
|
| UniGene | Hs.82002 |
| OMIM | 131244 |
| Locus | 1910 |
| Summary | Endothelin receptor type B is a G protein-coupled receptor which activates a phosphatidylinoitol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. Studies suggest that the multigenic disorder, Hirschsprung disease type 2, is due to mutation in endothelin receptor type B gene. A splice variant, named SVR, has been described; the sequence of the ETB-SVR receptor is identical to ETRB except for the intracellular C-terminal domain. While both splice variants bind ET1, they exhibit different responses upon binding which suggests that they may be functionally distinct. |
| Gene Ontology | |
| Expression | | EST (184 ESTs, 64 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| adrenal gland (1/15) |  | 1/17521 |
| brain (9/204) | | 23/362011 |
| ear (1/2) | | 4/12660 |
| embryo (3/19) | | 4/37976 |
| eye (4/33) | | 8/93836 |
| foreskin (1/4) | | 13/20040 |
| germ cell (1/7) | | 1/57383 |
| heart (2/22) | | 5/55494 |
| intestine (1/4) | | 1/11528 |
| kidney (3/86) | | 6/132968 |
| liver (1/38) | | 2/46472 |
| lung (5/312) | | 8/245386 |
| muscle (1/21) | | 6/71297 |
| nervous (1/475) | | 1/43438 |
| ovary (2/144) | | 2/81880 |
| pancreas (4/33) | | 9/117255 |
| placenta (4/342) | | 33/157762 |
| prostate (2/291) |  | 10/109871 |
| skin (3/31) | | 11/100815 |
| stomach (1/312) | | 3/129930 |
| uncharacterized tissue (13/1773) | | 32/713325 |
|
| SAGE (9617721 tags, 184 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| brain (13/19) | | 38/1621401 |
| cerebellum (1/1) | | 3/102560 |
| colon (8/8) | | 154/661967 |
| eye (5/6) | | 19/1202138 |
| heart (1/1) | | 1/84357 |
| kidney (1/2) | | 1/41857 |
| liver (1/1) | | 3/133722 |
| lung (1/1) | | 35/445715 |
| mammary gland (18/19) | | 1028/1155961 |
| muscle (1/2) | | 1/53853 |
| ovary (8/10) | | 39/352068 |
| pancreas (7/8) | | 29/313406 |
| prostate (11/13) | | 270/1224358 |
| skin (5/7) | | 54/62886 |
| stomach (3/3) | | 49/364264 |
| uncharacterized tissue (20/22) | | 193/1516125 |
| vascular (2/3) | | 6/281083 |
|
|
| SNP | rs5345 (G/A:coding-nonsyn); rs3027092 (A/G:intron); rs1801406 (A/G:coding-nonsyn); rs1050928 (C/T:mrna-utr); rs942611 (A/G:intron); rs2329046 (A/C:intron); rs1134652 (C/A:intron); rs2147555 (T/G:intron); rs2296281 (G/C:intron); rs3027125 (G/A:intron); rs2070591 (G/A:mrna-utr); rs1886480 (C/T:intron); rs1924928 (A/G:intron); rs2227311 (G/T:coding-nonsyn); |
| Evidence | Methylation in Prostate cancer
|
