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Description for Protein AMHR2

anti-Mullerian hormone receptor, type II
3 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
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] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • TM: Transmembrane domain
  • S_T_kinase: Serine/Threonine protein kinases, catalytic domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.7.11.30
    KEGG - Orthology:
    K04672
    KEGG - Pathway(s):
    hsa04060; hsa04350
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Anti Mullerian hormone receptor; AMHR; AMH type 2 receptor; MIS type 2 receptor; MISR2; MR2
    Approved Symbol:
    AMHR2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • Adenosine triphosphate(db)

    Associated Genetic Diseases:

  • Persistent mullerian duct syndrome, type II(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 02978 Entrez Gene ID: 269 OMIM ID: 600956 Swissprot Accession: Q16671; Q647K2;