| Tbio | Anti-Muellerian hormone type-2 receptor |
On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for anti-Muellerian hormone.
This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promotes the development of male genitalia while the binding of AMH to the encoded receptor prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in this gene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2009]
This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promotes the development of male genitalia while the binding of AMH to the encoded receptor prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in this gene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2009]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Female Urogenital Diseases | 18 | 0.0 | 0.0 |
| Persistent Mullerian duct syndrome | 3 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| pituitary cancer | 1972 | 2.0e-05 |
| facioscapulohumeral dystrophy | 288 | 1.2e-03 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Pseudohermaphroditism | 16 | 6.091 | 3.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Mumps | 10 | 5.045 | 2.5 |
| Rubella | 15 | 4.718 | 2.4 |
| Measles | 22 | 4.602 | 2.3 |
| Chickenpox | 8 | 4.332 | 2.2 |
| Mixed gonadal dysgenesis | 1 | 3.747 | 1.9 |
| Infertility | 188 | 3.697 | 1.8 |
| Oophoritis | 10 | 3.64 | 1.8 |
| ovarian cancer | 8520 | 3.581 | 1.8 |
| Inguinal hernia | 14 | 3.468 | 1.7 |
| Premature ovarian failure | 65 | 3.353 | 1.7 |
| Ovarian hyperstimulation syndrome | 19 | 3.257 | 1.6 |
| Polycystic ovary syndrome | 360 | 3.18 | 1.6 |
| Disease | Target Count |
|---|---|
| Persistent Mullerian Duct Syndrome, Types 1 and 2 | 1 |
| Disease | log2 FC | p |
|---|---|---|
| facioscapulohumeral dystrophy | 2.200 | 1.2e-03 |
| pituitary cancer | 1.200 | 2.0e-05 |
MLGSLGLWALLPTAVEAPPNRRTCVFFEAPGVRGSTKTLGELLDTGTELPRAIRCLYSRCCFGIWNLTQD 1 - 70 RAQVEMQGCRDSDEPGCESLHCDPSPRAHPSPGSTLFTCSCGTDFCNANYSHLPPPGSPGTPGSQGPQAA 71 - 140 PGESIWMALVLLGLFLLLLLLLGSIILALLQRKNYRVRGEPVPEPRPDSGRDWSVELQELPELCFSQVIR 141 - 210 EGGHAVVWAGQLQGKLVAIKAFPPRSVAQFQAERALYELPGLQHDHIVRFITASRGGPGRLLSGPLLVLE 211 - 280 LHPKGSLCHYLTQYTSDWGSSLRMALSLAQGLAFLHEERWQNGQYKPGIAHRDLSSQNVLIREDGSCAIG 281 - 350 DLGLALVLPGLTQPPAWTPTQPQGPAAIMEAGTQRYMAPELLDKTLDLQDWGMALRRADIYSLALLLWEI 351 - 420 LSRCPDLRPDSSPPPFQLAYEAELGNTPTSDELWALAVQERRRPYIPSTWRCFATDPDGLRELLEDCWDA 421 - 490 DPEARLTAECVQQRLAALAHPQESHPFPESCPRGCPPLCPEDCTSIPAPTILPCRPQRSACHFSVQQGPC 491 - 560 SRNPQPACTLSPV 561 - 573 //
