AMHR2 Gene: Anti-Müllerian Hormone Receptor Type 2
Key regulator of Müllerian duct regression and reproductive development
Gene Information Card
| Symbol | AMHR2 |
|---|---|
| Full Name | anti-Müllerian hormone receptor type 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 269 ncbi.nlm.nih.gov/gene/269 |
| Ensembl ID | ENSG00000135409 |
| UniProt ID | Q16671 |
| OMIM ID | 600956 |
| HGNC ID | 465 |
| Aliases | AMHR, MISR2, MISRII |
Description
The AMHR2 gene encodes the anti-Müllerian hormone receptor type 2, a serine/threonine kinase receptor that binds anti-Müllerian hormone (AMH). This receptor is essential for Müllerian duct regression during male sexual development. Mutations in AMHR2 cause persistent Müllerian duct syndrome (PMDS), characterized by the presence of uterus and fallopian tubes in males. The receptor is also involved in ovarian follicle development and has been implicated in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Persistent Müllerian duct syndrome (PMDS) | Loss-of-function mutations in AMHR2 impair AMH signaling, preventing regression of Müllerian ducts in males. | ClinVar, OMIM |
| Ovarian granulosa cell tumors | Altered AMH/AMHR2 signaling may contribute to tumorigenesis; AMHR2 expression is used as a diagnostic marker. | COSMIC, literature |
| Premature ovarian failure (POF) | Polymorphisms in AMHR2 have been associated with altered ovarian reserve and early menopause. | NCBI Gene, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.6 | Low |
| Ovary | 12.3 | Medium |
| Uterus | 0.2 | Not detected |
| Prostate | 0.1 | Not detected |
| Breast | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| KGN (ovarian granulosa cell line) | 15.2 | High expression; used as positive control |
| OVCAR-3 (ovarian cancer) | 8.7 | Moderate expression |
| LNCaP (prostate cancer) | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.133G>A (p.Gly45Arg) | Missense | Rare | Loss of function; associated with PMDS |
| c.785C>T (p.Pro262Leu) | Missense | Rare | Loss of function; impairs receptor activation |
| c.1072C>T (p.Arg358*) | Nonsense | Rare | Loss of function; truncated protein |
| c.1462G>A (p.Glu488Lys) | Missense | Rare | Loss of function; disrupts kinase activity |
Mutation functional classification
Loss of Function (LOF)
Most AMHR2 mutations are loss-of-function, leading to persistent Müllerian duct syndrome due to impaired AMH signaling.
Gain of Function (GOF)
No gain-of-function mutations have been reported in AMHR2.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by forming inactive receptor complexes, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004675 – transmembrane receptor protein serine/threonine kinase activity | • GO:0005024 – transforming growth factor beta receptor activity |
| • type II | • GO:0005515 – protein binding |
| • GO:0005886 – plasma membrane | • GO:0007179 – transforming growth factor beta receptor signaling pathway |
| • GO:0007506 – mesonephric duct development | • GO:0030509 – BMP signaling pathway |
| • GO:0042698 – ovulation cycle | • GO:0043401 – steroid hormone mediated signaling pathway |
Pathways
• TGF-beta signaling pathway (KEGG: hsa04350)
• Signaling by TGF-beta family members (Reactome: R-HSA-9006936)
• AMH signaling pathway (Reactome: R-HSA-376176)
Protein Summary
The AMHR2 protein is a type II serine/threonine kinase receptor of the TGF-beta receptor family. It consists of an extracellular ligand-binding domain, a single transmembrane domain, and an intracellular kinase domain. Upon binding AMH, it recruits and phosphorylates type I receptors (e.g., ACVR1, BMPR1A), initiating SMAD-dependent signaling. The protein is predominantly expressed in gonadal tissues and is critical for male reproductive tract development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AMHR2 Knockout HEK293 Cell Line | EDJ-KQ365 | Human | 269 | Details Get a Quote |
| AMHR2 Knockout HeLa Cell Line | EDJ-KQ52608 | Human | 269 | Details Get a Quote |
| AMHR2 Knockout A-549 Cell Line | EDJ-KQ61087 | Human | 269 | Details Get a Quote |
| AMHR2 Knockout HCT 116 Cell Line | EDJ-KQ69570 | Human | 269 | Details Get a Quote |
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