AMHR2 Chromosome 12
Anti-Mullerian hormone receptor type 2
Upload your DNA to see your personal genotypes for variants in AMHR2.
What This Gene Does
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]
Gene Info
Gene Group
Type 2 receptor serine/threonine kinases
Locus Type
gene with protein product
Location
12q13.13
Ensembl
ENSG00000135409
Associated Conditions (8)
Inborn genetic diseases
Genetic non-acquired premature ovarian failure
Persistent mullerian duct syndrome
type II
Persistent Mullerian duct syndrome
Differences in sex development
Male pseudohermaphroditism
AMHR2-related disorder
Key Variants
RS116317145
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS374038746
Conflicting classifications of pathogenicity
Health Risk
RS374943863
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1182853719
Likely pathogenic
Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
Health Risk
RS137853104
Likely pathogenic
Persistent mullerian duct syndrome, type II, Persistent mullerian duct syndrome
Health Risk
RS1412432973
Likely pathogenic
Health Risk
RS2136938115
Likely pathogenic
Persistent Mullerian duct syndrome, Persistent Mullerian duct syndrome
Health Risk
RS2136943263
Likely pathogenic
Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
Health Risk
RS756301317
Likely pathogenic
Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
Health Risk
RS766488520
Likely pathogenic
Health Risk
RS1252019616
Pathogenic
Persistent Mullerian duct syndrome, Persistent Mullerian duct syndrome
Health Risk
RS1313418437
Pathogenic
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116317145 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS374038746 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374943863 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1182853719 | Health Risk | Likely pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS137853104 | Health Risk | Likely pathogenic | Persistent mullerian duct syndrome, type II, Persistent mullerian duct syndrome |
| RS1412432973 | Health Risk | Likely pathogenic | — |
| RS2136938115 | Health Risk | Likely pathogenic | Persistent Mullerian duct syndrome, Persistent Mullerian duct syndrome |
| RS2136943263 | Health Risk | Likely pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS756301317 | Health Risk | Likely pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS766488520 | Health Risk | Likely pathogenic | — |
| RS1252019616 | Health Risk | Pathogenic | Persistent Mullerian duct syndrome, Persistent Mullerian duct syndrome |
| RS1313418437 | Health Risk | Pathogenic | — |
| RS1565829821 | Health Risk | Pathogenic | — |
| RS1939497801 | Health Risk | Pathogenic | Persistent mullerian duct syndrome, type II, Persistent mullerian duct syndrome |
| RS2136937857 | Health Risk | Pathogenic | — |
| RS2498847212 | Health Risk | Pathogenic | — |
| RS2498922382 | Health Risk | Pathogenic | Persistent Mullerian duct syndrome, Persistent Mullerian duct syndrome |
| RS376565347 | Health Risk | Pathogenic | Persistent Mullerian duct syndrome, Persistent Mullerian duct syndrome |
| RS746905091 | Health Risk | Pathogenic | Genetic non-acquired premature ovarian failure, Persistent Mullerian duct syndrome, Genetic non-acquired premature ovarian failure |
| RS763798144 | Health Risk | Pathogenic | Persistent mullerian duct syndrome, type II, Persistent mullerian duct syndrome |
| RS764761319 | Health Risk | Pathogenic | Persistent mullerian duct syndrome, type II, Persistent Mullerian duct syndrome |
| RS769617823 | Health Risk | Pathogenic | — |
| RS772294564 | Health Risk | Pathogenic | Persistent Mullerian duct syndrome, Persistent Mullerian duct syndrome |
| RS781745214 | Health Risk | Pathogenic | Male pseudohermaphroditism, Persistent Mullerian duct syndrome, Male pseudohermaphroditism |
| RS374247138 | Health Risk | Pathogenic/Likely pathogenic | AMHR2-related disorder, Persistent Mullerian duct syndrome, AMHR2-related disorder |
| RS374601719 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS755196112 | Health Risk | Pathogenic/Likely pathogenic | Persistent Mullerian duct syndrome, Persistent Mullerian duct syndrome |
| RS767904039 | Health Risk | Pathogenic/Likely pathogenic | Persistent Mullerian duct syndrome, Persistent Mullerian duct syndrome |