| 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 |
|---|---|
| Female Urogenital Diseases | 18 |
| Disease | Target Count | P-value |
|---|---|---|
| pituitary cancer | 1972 | 2.04296874746643E-5 |
| facioscapulohumeral dystrophy | 286 | 0.00119707688963883 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Persistent Mullerian duct syndrome | 3 | 0.0 | 5.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Pseudohermaphroditism | 16 | 5.926 | 3.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Mumps | 10 | 4.87 | 2.4 |
| Rubella | 14 | 4.549 | 2.3 |
| Measles | 20 | 4.453 | 2.2 |
| Chickenpox | 6 | 4.375 | 2.2 |
| Mixed gonadal dysgenesis | 1 | 3.788 | 1.9 |
| Cryptorchidism | 67 | 3.527 | 1.8 |
| ovarian cancer | 8492 | 3.52 | 1.8 |
| Premature ovarian failure | 64 | 3.424 | 1.7 |
| Infertility | 163 | 3.238 | 1.6 |
| Inguinal hernia | 13 | 3.099 | 1.5 |
| Disease | Target Count |
|---|---|
| Persistent Mullerian Duct Syndrome, Types 1 and 2 | 1 |
| Disease | Target Count |
|---|---|
| Persistent Muellerian duct syndrome 2 | 1 |
| Disease | log2 FC | p |
|---|---|---|
| pituitary cancer | 1.200 | 0.000 |
| facioscapulohumeral dystrophy | 2.200 | 0.001 |
| Species | Source |
|---|---|
| Chimp | OMA EggNOG |
| Macaque | OMA Inparanoid |
| Mouse | OMA EggNOG Inparanoid |
| Rat | OMA EggNOG Inparanoid |
| Dog | OMA EggNOG Inparanoid |
| Cow | OMA EggNOG |
| Pig | OMA EggNOG Inparanoid |
| Anole lizard | OMA EggNOG Inparanoid |
| PMID | Text |
|---|---|
| 26848671 | Neither AMH nor AMHR2 polymorphisms were related to age, BMI, hormone levels or ovarian parameters in the follicular phase in women of late reproductive stage. |
| 26753790 | A significant subset of GnRH neurons express the AMH receptor. |
| 26464718 | There is no association between single nucleotide polymorphisms in the AMH/AMHR2 signaling pathway and early ovarian hyperstimulation syndrome in Han Chinese women |
| 25972076 | study demonstrated for the first time that human placenta and fetal membranes express and co-localize Anti-Mullerian hormone(AMH) and Anti-Mullerian hormone Receptor II |
| 25790842 | AMHR2 rs11170555 and rs3741664 were positively associated with AMH, estradiol and FSH levels. |
| 25663701 | A significant portion of AMHRII was missing most of its extracellular domain (ECD) and was unfolded and retained in the endoplasmic reticulum. |
| 25542251 | There was evidence that in specific subgroups of women undergoing IVF/ICSI, AMH and AMHRII SNPs may be related to patients' characteristics and controlled ovarian stimulation and pregnancy outcome |
| 25517316 | Data indicate that Muellerian inhibiting substance type II receptor (MISRII) is a promising target for the control of ovarian granulosa cell tumors (GCT) and epithelial ovarian cancers (EOC). |
| 24912417 | These findings suggest that patients with primary ovarian insufficiency in China share AMH and AMHR2 genetic variants with those who go through menopause at a normal age. |
| 24613539 | Antimullerian hormone receptor expression is increased in endometrium from patients with endometriosis. |
| More... |
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 //
| PMID | Year | Title |
|---|---|---|
| 27430550 | 2016 | A dominant negative mutation at the ATP binding domain of AMHR2 is associated with a defective anti-Müllerian hormone signaling pathway. |
| 26848671 | 2016 | The Relationship between AMH and AMHR2 Polymorphisms and the Follicular Phase in Late Reproductive Stage Women. |
| 26753790 | 2016 | Novel role for anti-Müllerian hormone in the regulation of GnRH neuron excitability and hormone secretion. |
| 26464718 | 2015 | Possible involvement of single nucleotide polymorphisms in anti-Müllerian hormone signaling pathway in the pathogenesis of early OHSS in Han Chinese women. |
| 25972076 | 2015 | Placenta expresses anti-Müllerian hormone and its receptor: Sex-related difference in fetal membranes. |
| 25790842 | 2015 | AMH and AMHR2 polymorphisms and AMH serum level can predict assisted reproduction outcomes: a cross-sectional study. |
| 25663701 | 2015 | Constitutive negative regulation in the processing of the anti-Müllerian hormone receptor II. |
| 25542251 | 2015 | Single nucleotide polymorphisms in the Anti-Müllerian hormone (AMH Ile(49)Ser) and Anti-Müllerian hormone type II receptor (AMHRII -482 A>G) as genetic markers in assisted reproduction technology. |
| 25517316 | 2014 | The human Müllerian inhibiting substance type II receptor as immunotherapy target for ovarian cancer. Validation using the mAb 12G4. |
| 24912417 | 2014 | AMH and AMHR2 genetic variants in Chinese women with primary ovarian insufficiency and normal age at natural menopause. |
| More... |
