Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 269
MIM: 600956
HGNC: 465
Ensembl: ENSG00000135409
Variants:
dbSNP: 269
ClinVar: 269
TCGA: ENSG00000135409
COSMIC: AMHR2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000135409 | ENST00000257863 | Q16671 |
| ENSG00000135409 | ENST00000379791 | Q16671 |
| ENSG00000135409 | ENST00000550311 | Q16671 |
| ENSG00000135409 | ENST00000550839 | H3BPI9 |
Expression (GTEx)
Pathways
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA443886 | Diabetes Mellitus | Disease | ClinicalAnnotation | associated | PK | PD | 24853734, 29352482 |
| PA450395 | metformin | Chemical | ClinicalAnnotation | associated | PK | PD | 24853734, 29352482 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34515230 | 2022 | AMH and AMHR2 Involvement in Congenital Disorders of Sex Development. | 5 |
| 35052499 | 2022 | Identification of AMH and AMHR2 Variants Led to the Diagnosis of Persistent Müllerian Duct Syndrome in Three Cases. | 2 |
| 35713750 | 2022 | Association of AMH and AMHR2 gene polymorphisms with ovarian response and pregnancy outcomes in Indian women. | 1 |
| 34515230 | 2022 | AMH and AMHR2 Involvement in Congenital Disorders of Sex Development. | 5 |
| 35052499 | 2022 | Identification of AMH and AMHR2 Variants Led to the Diagnosis of Persistent Müllerian Duct Syndrome in Three Cases. | 2 |
| 35713750 | 2022 | Association of AMH and AMHR2 gene polymorphisms with ovarian response and pregnancy outcomes in Indian women. | 1 |
| 32845508 | 2021 | Assessment of Anti-Mullerian Hormone and Anti-Mullerian Hormone Type II Receptor Variants in Women with Repeated Implantation Failures. | 2 |
| 33025551 | 2021 | Identification of four novel variant in the AMHR2 gene in six unrelated Turkish families. | 3 |
| 33682741 | 2021 | DNA methylation of AMHRII and INSR gene is associated with the pathogenesis of Polycystic Ovary Syndrome (PCOS). | 6 |
| 34480531 | 2021 | A novel mutation of AMHR2 in two brothers with persistent Müllerian duct syndrome and their intracytoplasmic sperm injection outcome. | 2 |
| 32845508 | 2021 | Assessment of Anti-Mullerian Hormone and Anti-Mullerian Hormone Type II Receptor Variants in Women with Repeated Implantation Failures. | 2 |
| 33025551 | 2021 | Identification of four novel variant in the AMHR2 gene in six unrelated Turkish families. | 3 |
| 33682741 | 2021 | DNA methylation of AMHRII and INSR gene is associated with the pathogenesis of Polycystic Ovary Syndrome (PCOS). | 6 |
| 34480531 | 2021 | A novel mutation of AMHR2 in two brothers with persistent Müllerian duct syndrome and their intracytoplasmic sperm injection outcome. | 2 |
| 32333774 | 2020 | Mutational Analysis of the Putative Anti-Müllerian Hormone (AMH) Binding Interface on its Type II Receptor, AMHR2. | 8 |
Citation
Dessen P
AMHR2 (anti-Mullerian hormone receptor type 2)
Atlas Genet Cytogenet Oncol Haematol. 2003-12-01
Online version: http://atlasgeneticsoncology.org/gene/629/amhr2
