{ "uniprot_canonical_ac": "Q16671-1", "uniprot_ac": "Q16671", "uniprot_id": "AMHR2_HUMAN", "mass": { "chemical_mass": 62750.0, "monoisotopic_mass": 62750.0 }, "refseq": { "ac": "NP_001158162", "name": "anti-Muellerian hormone type-2 receptor isoform 2 precursor", "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, Sep 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158162" }, "gene_names": [ { "name": "AMHR2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q16671", "id": "Q16671" }, { "name": "AMHR2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158162", "id": "NP_001158162" }, { "name": "AMHR; MISR2; MISRII; MRII", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158162", "id": "NP_001158162" }, { "name": "AMHR", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q16671", "id": "Q16671" }, { "name": "MISR2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q16671", "id": "Q16671" } ], "protein_names": [ { "name": "Anti-Muellerian hormone type-2 receptor", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q16671" }, { "name": "2.7.11.30", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q16671" }, { "name": "AMH type II receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q16671" }, { "name": "Anti-Muellerian hormone type II receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q16671" }, { "name": "MIS type II receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q16671" }, { "name": "MISRII", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q16671" }, { "name": "MRII", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q16671" }, { "name": "Mullerian inhibiting substance type II receptor; MIS type II receptor; AMH type II receptor; anti-Muellerian hormone type II receptor; Muellerian inhibiting substance type II receptor; anti-Mullerian hormone receptor, type II", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158162", "id": "NP_001158162" }, { "name": "anti-Muellerian hormone type-2 receptor isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158162", "id": "NP_001158162" } ], "function": [ { "annotation": "A novel mutation of AMHR2 in two brothers with persistent Mullerian duct syndrome and their intracytoplasmic sperm injection outcome.", "evidence": [ { "database": "RefSeq", "id": "NP_001158162", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158162" }, { "database": "PubMed", "id": "34480531", "url": "https://glygen.org/publication/PubMed/34480531" } ] }, { "annotation": "AMH and AMHR2 Involvement in Congenital Disorders of Sex Development. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001158162", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158162" }, { "database": "PubMed", "id": "34515230", "url": "https://glygen.org/publication/PubMed/34515230" } ] }, { "annotation": "Association of AMH and AMHR2 gene polymorphisms with ovarian response and pregnancy outcomes in Indian women.", "evidence": [ { "database": "RefSeq", "id": "NP_001158162", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158162" }, { "database": "PubMed", "id": "35713750", "url": "https://glygen.org/publication/PubMed/35713750" } ] }, { "annotation": "Identification of AMH and AMHR2 Variants Led to the Diagnosis of Persistent Mullerian Duct Syndrome in Three Cases. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001158162", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158162" }, { "database": "PubMed", "id": "35052499", "url": "https://glygen.org/publication/PubMed/35052499" } ] }, { "annotation": "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.", "evidence": [ { "database": "UniProtKB", "id": "Q16671", "url": "https://www.uniprot.org/uniprot/Q16671#function" } ] }, { "annotation": "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].", "evidence": [ { "database": "RefSeq", "id": "NP_001158162", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158162" } ] } ], "disease": [ { "disease_id": "DOID:0050791", "recommended_name": { "id": "DOID:0050791", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050791", "name": "persistent Mullerian duct syndrome", "description": "A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male." }, "synonyms": [ { "id": "DOID:0050791", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050791", "name": "persistent Muellerian duct syndrome", "description": "" }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "persistent Mullerian duct syndrome", "description": "Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Mllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys." }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "PMDS", "description": "" }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "persistent Muellerian duct syndrome", "description": "" }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "persistent Mullerian derivatives", "description": "" }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "persistent Mullerian duct syndrome", "description": "" }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "persistent Mllerian derivatives", "description": "" }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "persistent mullerian duct syndrome, type I", "description": "" }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "persistent mullerian duct syndrome, type II", "description": "" }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "female genital ducts in otherwise normal Male", "description": "" }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "female genital ducts in otherwise normal male", "description": "" }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "hernia uteri inguinale", "description": "" }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "persistent MULLERIAN duct syndrome, types I and II", "description": "" }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "persistent Mllerian duct syndrome", "description": "" }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "persistent mullerian duct syndrome, types 1 and 2", "description": "" }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "persistent oviduct syndrome", "description": "" }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "pseudohermaphroditism, Male internal", "description": "" }, { "id": "MIM:261550", "resource": "MIM", "url": "https://www.omim.org/entry/261550", "name": "Persistent Muellerian duct syndrome 1", "description": "Persistent Muellerian duct syndrome 1" } ], "evidence": [ { "id": "261550", "database": "MIM", "url": "https://www.omim.org/entry/261550" } ] } ], "snv": [ { "evidence": [ { "id": "rs770030378", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770030378" }, { "id": "rs770030378", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770030378" }, { "id": "rs770030378", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770030378" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 119, "end_pos": 119, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYS->KYS).", "chr_id": "12", "chr_pos": "53424833", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N119", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749717207", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749717207" }, { "id": "rs749717207", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749717207" }, { "id": "rs749717207", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749717207#frequency_tab" }, { "id": "rs749717207", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749717207" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 121, "end_pos": 121, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYS->NYN).", "chr_id": "12", "chr_pos": "53424838", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S121", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761279948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761279948" }, { "id": "rs761279948", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761279948" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 176, "end_pos": 176, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NYR->NYS).", "chr_id": "12", "chr_pos": "53425480", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R176", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q16671", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q16671" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 176, "end_pos": 176, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NYR->NYT).", "chr_id": "12", "chr_pos": "53425479", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "R176", "disease": 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"https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, 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"https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1255734992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1255734992" }, { "id": "rs1255734992", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1255734992" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 192, "end_pos": 192, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DWS->NWS).", "chr_id": "12", "chr_pos": "53425526", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D192", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q16671", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q16671" } ], "glycoeffect": [], "start_pos": 22, "end_pos": 22, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "53424303", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R22", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q16671", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q16671" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"UniProtKB", "categories": [ "Protein" ] }, { "id": "Q16671", "url": "https://www.uniprot.org/uniprot/Q16671", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q16671-1", "url": "https://www.uniprot.org/uniprot/Q16671-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q16671-2", "url": "https://www.uniprot.org/uniprot/Q16671-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q16671-3", "url": "https://www.uniprot.org/uniprot/Q16671-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLGSLGLWALLPTAVEAPPNRRTCVFFEAPGVRGSTKTLGELLDTGTELPRAIRCLYSRCCFGIWNLTQDRAQVEMQGCRDSDEPGCESLHCDPSPRAHPSPGSTLFTCSCGTDFCNANYSHLPPPGSPGTPGSQGPQAAPGESIWMALVLLGLFLLLLLLLGSIILALLQRKNYRVRGEPVPEPRPDSGRDWSVELQELPELCFSQVIREGGHAVVWAGQLQGKLVAIKAFPPRSVAQFQAERALYELPGLQHDHIVRFITASRGGPGRLLSGPLLVLELHPKGSLCHYLTQYTSDWGSSLRMALSLAQGLAFLHEERWQNGQYKPGIAHRDLSSQNVLIREDGSCAIGDLGLALVLPGLTQPPAWTPTQPQGPAAIMEAGTQRYMAPELLDKTLDLQDWGMALRRADIYSLALLLWEILSRCPDLRPDSSPPPFQLAYEAELGNTPTSDELWALAVQERRRPYIPSTWRCFATDPDGLRELLEDCWDADPEARLTAECVQQRLAALAHPQESHPFPESCPRGCPPLCPEDCTSIPAPTILPCRPQRSACHFSVQQGPCSRNPQPACTLSPV", "length": 573, "header": "sp|Q16671-1|AMHR2_HUMAN Isoform 1 of Anti-Muellerian hormone type-2 receptor OS=Homo sapiens OX=9606 GN=AMHR2 PE=1 SV=1 CANONICAL=Q16671-1" }, "isoforms": [ { "isoform_ac": "H3BPI9-1", "url": "", "sequence": { "sequence": "MALSLAQGLAFLHEERWQNGQYKPGIAHRDLSSQNVLIREDGSCAIGDLGLALVLPGLTQPPAWTPTQPQGPAAIMEAGTQRYMAPELLDKTLDLQDWGMALRRADIYSLALLLWEILSRCPDLRPDSSPPPFQLAYEAELGNTPTSDELWALAVQERRRPYIPSTWRCFAT", "length": 172, "header": "tr|H3BPI9-1|H3BPI9_HUMAN Computationally mapped isoform of receptor protein serine/threonine kinase OS=Homo sapiens OX=9606 GN=AMHR2 PE=3 SV=1 CANONICAL=Q16671-1" }, "locus": { "chromosome": "12", "start_pos": 53430282, "end_pos": 53428953, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000550839.1", "url": "https://www.ensembl.org/id/ENST00000550839.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000455338.1", "url": "https://www.ensembl.org/id/ENSP00000455338.1" } ] } }, { "isoform_ac": "Q16671-1", "url": "", "sequence": { "sequence": "MLGSLGLWALLPTAVEAPPNRRTCVFFEAPGVRGSTKTLGELLDTGTELPRAIRCLYSRCCFGIWNLTQDRAQVEMQGCRDSDEPGCESLHCDPSPRAHPSPGSTLFTCSCGTDFCNANYSHLPPPGSPGTPGSQGPQAAPGESIWMALVLLGLFLLLLLLLGSIILALLQRKNYRVRGEPVPEPRPDSGRDWSVELQELPELCFSQVIREGGHAVVWAGQLQGKLVAIKAFPPRSVAQFQAERALYELPGLQHDHIVRFITASRGGPGRLLSGPLLVLELHPKGSLCHYLTQYTSDWGSSLRMALSLAQGLAFLHEERWQNGQYKPGIAHRDLSSQNVLIREDGSCAIGDLGLALVLPGLTQPPAWTPTQPQGPAAIMEAGTQRYMAPELLDKTLDLQDWGMALRRADIYSLALLLWEILSRCPDLRPDSSPPPFQLAYEAELGNTPTSDELWALAVQERRRPYIPSTWRCFATDPDGLRELLEDCWDADPEARLTAECVQQRLAALAHPQESHPFPESCPRGCPPLCPEDCTSIPAPTILPCRPQRSACHFSVQQGPCSRNPQPACTLSPV", "length": 573, "header": "sp|Q16671-1|AMHR2_HUMAN Isoform 1 of Anti-Muellerian hormone type-2 receptor OS=Homo sapiens OX=9606 GN=AMHR2 PE=1 SV=1 CANONICAL=Q16671-1" }, "locus": { "chromosome": "12", "start_pos": 53431470, "end_pos": 53423935, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000257863.9", "url": "https://www.ensembl.org/id/ENST00000257863.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000257863.3", "url": "https://www.ensembl.org/id/ENSP00000257863.3" } ] } }, { "isoform_ac": "Q16671-2", "url": "", "sequence": { "sequence": "MLGSLGLWALLPTAVEAPPNRRTCVFFEAPGVRGSTKTLGELLDTGTELPRAIRCLYSRCCFGIWNLTQDRAQVEMQGCRDSDEPGCESLHCDPSPRAHPSPGSTLFTCSCGTDFCNANYSHLPPPGSPGTPGSQGPQAAPGESIWMALVLLGLFLLLLLLLGSIILALLQRKNYRVRGEPVPEPRPDSGRDWSVELQELPELCFSQVIREGGHAVVWAGQLQGKLVAIKAFPPRSVAQFQAERALYELPGLQHDHIVRFITASRGGPGRLLSGPLLVLELHPKGSLCHYLTQYTSDWGSSLRMALSLAQGLAFLHEERWQNGQYKPGIAHRDLSSQNVLIREDGSCAIGDLGLALVLPGLTQPPAWTPTQPQGPAAIMEAGTQRYMAPELLDKTLDLQDWGMALRRADIYSLALLLWEILSRCPDLRPAVHHPSNWPMRQNWAIPLPLMSYGPWQCRRGGVPTSHPPGAALPQTLMG", "length": 478, "header": "sp|Q16671-2|AMHR2_HUMAN Isoform 2 of Anti-Muellerian hormone type-2 receptor OS=Homo sapiens OX=9606 GN=AMHR2 PE=1 SV=1 CANONICAL=Q16671-1" }, "locus": { "chromosome": "12", "start_pos": 53431189, "end_pos": 53423935, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000550311.5", "url": "https://www.ensembl.org/id/ENST00000550311.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000446661.1", "url": "https://www.ensembl.org/id/ENSP00000446661.1" } ] } }, { "isoform_ac": "Q16671-3", "url": "", "sequence": { "sequence": "MLGSLGLWALLPTAVEAPPNRRTCVFFEAPGVRGSTKTLGELLDTGTELPRAIRCLYSRCCFGIWNLTQDRAQVEMQGCRDSDEPGCESLHCDPSPRAHPSPGSTLFTCSCGTDFCNANYSHLPPPGSPGTPGSQGPQAAPGESIWMALVLLGLFLLLLLLLGSIILALLQRKNYRVRGEPVPEPRPDSGRDWSVELQELPELCFSQVIREGGHAVVWAGQLQGKLVAIKAFPPRSVAQFQAERALYELPGLQHDHIVRFITASRGGPGRLLSGPLLVLELHPKGSLCHYLTQYTSDWGSSLRMALSLAQGLAFLHEERWQNGQYKPGIAHRDLSSQNVLIREDGSCAIGDLGLALVLPGLTQPPAWTPTQPQGPAAIMEDPDGLRELLEDCWDADPEARLTAECVQQRLAALAHPQESHPFPESCPRGCPPLCPEDCTSIPAPTILPCRPQRSACHFSVQQGPCSRNPQPACTLSPV", "length": 478, "header": "sp|Q16671-3|AMHR2_HUMAN Isoform 3 of Anti-Muellerian hormone type-2 receptor OS=Homo sapiens OX=9606 GN=AMHR2 PE=1 SV=1 CANONICAL=Q16671-1" }, "locus": { "chromosome": "12", "start_pos": 53431470, "end_pos": 53423935, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000379791.7", "url": "https://www.ensembl.org/id/ENST00000379791.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000369117.3", "url": "https://www.ensembl.org/id/ENSP00000369117.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 119, "start_aa": "Asn", "end_pos": 119, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn119", "evidence": [ { "id": "Q16671", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16671#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 66, "start_aa": "Asn", "end_pos": 66, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn66", "evidence": [ { "id": "Q16671", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16671#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "A SMAD ubiquitin ligase targets the BMP pathway and affects embryonic pattern formation.", "journal": "Nature", "date": "1999", "authors": "Zhu H, Kavsak P, Abdollah S, Wrana JL, Thomsen GH", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "10458166", "url": "https://glygen.org/publication/PubMed/10458166" } ] }, { "title": "SMAD destruction turns off signalling.", "journal": "Nature cell biology", "date": "1999", "authors": "Heldin CH, ten Dijke P", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "10587654", "url": "https://glygen.org/publication/PubMed/10587654" } ] }, { "title": "Human ovarian cancer, cell lines, and primary ascites cells express the human Muellerian inhibiting substance (MIS) type II receptor, bind, and are responsive to MIS.", "journal": "Clin. Cancer Res.", "date": "1999", "authors": "Dombkowski D.M., Donahoe P.K., Fuller A.F. Jr., Ha T.U., Kehas D.J., Kenneally M.K., MacLaughlin D.T., Maheswaran S., Masiakos P.T., Preffer F.I., Shah P.C., Teixeira J.", "evidence": [ { "database": "UniProtKB", "id": "Q16671", "url": "https://www.uniprot.org/uniprot/Q16671" } ], "reference": [ { "type": "PubMed", "id": "10589763", "url": "https://glygen.org/publication/PubMed/10589763" } ] }, { "title": "Bone morphogenetic protein receptor complexes on the surface of live cells: a new oligomerization mode for serine/threonine kinase receptors.", "journal": "Molecular biology of the cell", "date": "2000", "authors": "Gilboa L, Nohe A, Geissendorfer T, Sebald W, Henis YI, Knaus P", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "10712517", "url": "https://glygen.org/publication/PubMed/10712517" } ] }, { "title": "Smurf2 is a ubiquitin E3 ligase mediating proteasome-dependent degradation of Smad2 in transforming growth factor-beta signaling.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Lin X, Liang M, Feng XH", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "11016919", "url": "https://glygen.org/publication/PubMed/11016919" } ] }, { "title": "Ski represses bone morphogenic protein signaling in Xenopus and mammalian cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Wang W, Mariani FV, Harland RM, Luo K", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "11121043", "url": "https://glygen.org/publication/PubMed/11121043" } ] }, { "title": "Regulation of Smad degradation and activity by Smurf2, an E3 ubiquitin ligase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Zhang Y, Chang C, Gehling DJ, Hemmati-Brivanlou A, Derynck R", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "11158580", "url": "https://glygen.org/publication/PubMed/11158580" } ] }, { "title": "Smurf1 interacts with transforming growth factor-beta type I receptor through Smad7 and induces receptor degradation.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Ebisawa T, Fukuchi M, Murakami G, Chiba T, Tanaka K, Imamura T, Miyazono K", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "11278251", "url": "https://glygen.org/publication/PubMed/11278251" } ] }, { "title": "Nucleocytoplasmic shuttling of Smad1 conferred by its nuclear localization and nuclear export signals.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Xiao Z, Watson N, Rodriguez C, Lodish HF", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "11509558", "url": "https://glygen.org/publication/PubMed/11509558" } ] }, { "title": "Autosomal recessive segregation of a truncating mutation of anti-Muellerian type II receptor in a family affected by the persistent Muellerian duct syndrome contrasts with its dominant negative activity in vitro.", "journal": "J. Clin. Endocrinol. 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protein serine/threonine kinase activity", "id": "GO:0004675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004675", "evidence": [ { "database": "UniProtKB", "id": "Q16671", "url": "https://www.uniprot.org/uniprot/Q16671" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q16671", "url": "https://www.uniprot.org/uniprot/Q16671" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q16671", "url": "https://www.uniprot.org/uniprot/Q16671" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q16671", "url": "https://www.uniprot.org/uniprot/Q16671" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 11, "go_terms": [ { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q16671", "url": "https://www.uniprot.org/uniprot/Q16671" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor signaling pathway", "id": "GO:0007179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007179", "evidence": [ { "database": "UniProtKB", "id": "Q16671", "url": "https://www.uniprot.org/uniprot/Q16671" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "Q16671", "url": "https://www.uniprot.org/uniprot/Q16671" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "Q16671", "url": "https://www.uniprot.org/uniprot/Q16671" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "Q16671", "url": "https://www.uniprot.org/uniprot/Q16671" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "Q16671", "url": "https://www.uniprot.org/uniprot/Q16671" } ], "pmid": "" }, { "name": "Mullerian duct regression", "id": "GO:0001880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001880", "evidence": [ { "database": "UniProtKB", "id": "Q16671", "url": "https://www.uniprot.org/uniprot/Q16671" } ], "pmid": "" }, { "name": "sex differentiation", "id": "GO:0007548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007548", "evidence": [ { "database": "UniProtKB", "id": "Q16671", "url": "https://www.uniprot.org/uniprot/Q16671" } ], "pmid": "" }, { "name": "female gonad development", "id": "GO:0008585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008585", "evidence": [ { "database": "UniProtKB", "id": "Q16671", "url": "https://www.uniprot.org/uniprot/Q16671" } ], "pmid": "" }, { "name": "pathway-restricted SMAD protein phosphorylation", "id": "GO:0060389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060389", "evidence": [ { "database": "UniProtKB", "id": "Q16671", "url": "https://www.uniprot.org/uniprot/Q16671" } ], "pmid": "" }, { "name": "anti-Mullerian hormone signaling pathway", "id": "GO:1990262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990262", "evidence": [ { "database": "UniProtKB", "id": "Q16671", "url": "https://www.uniprot.org/uniprot/Q16671" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 119, "end_pos": 121, "annotation": "n_glycosylation_sequon" }, { "start_pos": 66, "end_pos": 68, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "18673", "name": "", "equation": "ATP + L-seryl-[receptor-protein] = ADP + H(+) + O-phospho-L-seryl-[receptor-protein]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P38445-1", "P80202-1", "Q78EA7-1", "P80201-1", "P70539-1", "P80203-1", "Q62893-1", "P38444-1", "P38438-1", "P80204-1", "F1LQC5-1", "A0A8I5ZJI2-1", "P36894-1", "Q13873-1", "Q13705-1", "P37023-1", "Q8NER5-1", "P36896-1", "Q16671-1", "Q04771-1", "O00238-1", "P27037-1", "P36897-1", "P37173-1", "Q8K348-1", "Q61288-1", "Q8K592-1", "Q61271-1", "P37172-1", "P27040-1", "P36895-1", "O35607-1", "P36898-1", "P27038-1", "Q62312-2", "Q64729-1" ], "evidence": [ { "id": "18673", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/18673" } ] }, { "id": "44880", "name": "", "equation": "ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho-L-threonyl-[receptor-protein]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P38445-1", "P80201-1", "P80202-1", "Q78EA7-1", "P70539-1", "P80203-1", "Q62893-1", "P38444-1", "P38438-1", "P80204-1", "F1LQC5-1", "A0A8I5ZJI2-1", "P36894-1", "Q13873-1", "Q13705-1", "P37023-1", "Q8NER5-1", "P36896-1", "Q16671-1", "Q04771-1", "O00238-1", "P27037-1", "P36897-1", "P37173-1", "Q8K348-1", "Q61288-1", "Q8K592-1", "P37172-1", "Q61271-1", "P27040-1", "P36895-1", "O35607-1", "P36898-1", "P27038-1", "Q62312-2", "Q64729-1", "A0A0B4KG59-1" ], "evidence": [ { "id": "44880", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/44880" } ] }, { "id": "R-HSA-8858346", "name": "AMHR2 binds AMH", "equation": "", "summary": "Anti-M\u00fcllerian hormone (AMH), also known as M\u00fcllerian inhibiting substance (MIS), is a member of the Transforming growth factor Beta (TGFB) superfamily (Massagu\u00e9 1998). It plays a crucial role during male sexual differentiation, inducing the regression of the M\u00fcllerian ducts in male fetuses (Nef & Parada 2000). Mutations in the AMH gene (Cate et al.1986) cause Persistent M\u00fcllerian duct syndrome, a rare form of male pseudohermaphroditism (Belville et al. 1999, MacLaughlin & Donahoe 2004). As a member of the TGFB superfamily, it was expected that AMH signaling would resemble the signaling pathways defined for other family members (Visser 2003). TGFB family members signal through a heteromeric receptor complex consisting of two related serine/threonine kinase receptors, the type I and II receptors. The dimeric ligand initially binds to the type II receptor, which recruits and phosphorylates the type I receptor. This activates the type I receptor resulting in phosphorylation of Smad proteins.

Prior to secretion, AMH undergoes glycosylation and dimerization to produce a 144-kDa dimer composed of identical disulphide-linked 72-kDa monomer subunits; each monomer contains an N-terminal domain 'pro' region and a C-terminal domain 'mature' region. The type II receptor for AMH is AMHR2 (Baarends et al. 1994, di Clemente et al. 1994, Teixeira et al. 1996). AMH must be cleaved to bind AMHR2 but dissociation of the pro-region from the mature C-terminal dimer is not required for this initial interaction (di Clemente et al. 2010). The AMH:AMHR2 complex has been reported to recruit in a context specific manner two candidate type I receptors, Bone morphogenetic protein receptor type-1B (BMPR1A, ALK3) (Jamin et al. 2002), and Activin receptor type-1 (ACVR1, ALK2) (Clarke et al. 2001, Visser et al. 2001) leading to SMAD1/5/8 activation (Gouedard et al. 2000, Zhan et al. 2006).", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q16671-1" ], "evidence": [ { "id": "R-HSA-8858346", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8858346" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A0A0B4KG59", "gene_name": "put", "activity": [ { "ec_number": "2.7.11.30", "activity": "ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho-L-threonyl-[receptor-protein].", "evidence": [ { "id": "A0A0B4KG59", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A0B4KG59" } ] }, { "ec_number": "2.7.11.30", "activity": "", "evidence": [ { "id": "A0A0B4KG59", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A0B4KG59" } ] } ] }, { "uniprot_ac": "A0A8I5ZJI2", "gene_name": "Bmpr1b", "activity": [ { "ec_number": "2.7.11.30", "activity": "ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho-L-threonyl-[receptor-protein].", "evidence": [ { "id": "A0A8I5ZJI2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I5ZJI2" } ] }, { "ec_number": "2.7.11.30", "activity": "", "evidence": [ { "id": "A0A8I5ZJI2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I5ZJI2" } ] } ] }, { "uniprot_ac": "F1LQC5", "gene_name": "Bmpr2", "activity": [ { "ec_number": "2.7.11.30", "activity": "ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho-L-threonyl-[receptor-protein].", "evidence": [ { "id": "F1LQC5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/F1LQC5" } ] }, { "ec_number": "2.7.11.30", "activity": "", "evidence": [ { "id": "F1LQC5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/F1LQC5" } ] } ] }, { "uniprot_ac": "O00238", "gene_name": "BMPR1B", "activity": [ { "ec_number": "2.7.11.30", "activity": "ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho-L-threonyl-[receptor-protein].", "evidence": [ { "id": "O00238", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00238" } ] }, { "ec_number": "2.7.11.30", "activity": "", "evidence": [ { "id": "O00238", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00238" } ] } ] }, { "uniprot_ac": "O35607", "gene_name": "Bmpr2", "activity": [ { "ec_number": "2.7.11.30", "activity": "ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho-L-threonyl-[receptor-protein].", "evidence": [ { "id": "O35607", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35607" } ] }, { "ec_number": "2.7.11.30", "activity": "", "evidence": [ { "id": "O35607", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35607" } ] } ] }, { "uniprot_ac": "P27037", "gene_name": "ACVR2A", "activity": [ { "ec_number": "2.7.11.30", "activity": "ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho-L-threonyl-[receptor-protein].", "evidence": [ { "id": "P27037", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27037" } ] }, { "ec_number": "2.7.11.30", "activity": "", "evidence": [ { "id": "P27037", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27037" } ] } ] }, { "uniprot_ac": "P27038", "gene_name": "Acvr2a", "activity": [ { "ec_number": "2.7.11.30", "activity": "ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho-L-threonyl-[receptor-protein].", "evidence": [ { "id": "P27038", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27038" } ] }, { "ec_number": "2.7.11.30", "activity": "", "evidence": [ { "id": "P27038", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27038" } ] } ] }, { "uniprot_ac": "P27040", "gene_name": "Acvr2b", "activity": [ { "ec_number": "2.7.11.30", "activity": "ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho-L-threonyl-[receptor-protein].", "evidence": [ { "id": "P27040", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27040" } ] }, { "ec_number": "2.7.11.30", "activity": "", "evidence": [ { "id": "P27040", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27040" } ] } ] }, { "uniprot_ac": "P36894", "gene_name": "BMPR1A", "activity": [ { "ec_number": "2.7.11.30", "activity": "ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho-L-threonyl-[receptor-protein].", "evidence": [ { "id": "P36894", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36894" } ] }, { "ec_number": "2.7.11.30", "activity": "", "evidence": [ { "id": "P36894", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36894" } ] } ] }, { "uniprot_ac": "P36895", "gene_name": "Bmpr1a", "activity": [ { "ec_number": "2.7.11.30", "activity": "ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho-L-threonyl-[receptor-protein].", "evidence": [ { "id": "P36895", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36895" } ] }, { "ec_number": "2.7.11.30", "activity": "", "evidence": [ { "id": "P36895", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36895" } ] } ] }, { "uniprot_ac": "P36896", "gene_name": "ACVR1B", "activity": [ { "ec_number": "2.7.11.30", "activity": "ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho-L-threonyl-[receptor-protein].", "evidence": [ { "id": "P36896", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36896" } ] }, { "ec_number": "2.7.11.30", "activity": "", "evidence": [ { "id": "P36896", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36896" } ] } ] }, { "uniprot_ac": "P36897", "gene_name": "TGFBR1", "activity": [ { "ec_number": "2.7.11.30", "activity": "ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho-L-threonyl-[receptor-protein].", "evidence": [ { "id": "P36897", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36897" } ] }, { "ec_number": "2.7.11.30", "activity": "", "evidence": [ { "id": "P36897", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36897" } ] } ] }, { "uniprot_ac": "P36898", "gene_name": "Bmpr1b", "activity": [ { "ec_number": "2.7.11.30", "activity": "ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho-L-threonyl-[receptor-protein].", "evidence": [ { "id": "P36898", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36898" } ] }, { "ec_number": "2.7.11.30", "activity": "", "evidence": [ { "id": "P36898", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36898" } ] } ] }, { "uniprot_ac": "P37023", "gene_name": "ACVRL1", "activity": [ { "ec_number": "2.7.11.30", "activity": "ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho-L-threonyl-[receptor-protein].", "evidence": [ { "id": "P37023", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P37023" } ] }, { "ec_number": "2.7.11.30", "activity": "", "evidence": [ { "id": "P37023", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P37023" } ] } ] }, { "uniprot_ac": "P37172", "gene_name": "Acvr1", "activity": [ { "ec_number": "2.7.11.30", "activity": "ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho-L-threonyl-[receptor-protein].", "evidence": [ { "id": "P37172", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P37172" } ] }, { "ec_number": "2.7.11.30", "activity": "", "evidence": [ { "id": "P37172", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P37172" } ] } ] }, { "uniprot_ac": "P37173", "gene_name": "TGFBR2", "activity": [ { "ec_number": "2.7.11.30", "activity": "ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho-L-threonyl-[receptor-protein].", "evidence": [ { "id": "P37173", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P37173" } ] }, { "ec_number": "2.7.11.30", "activity": "", "evidence": [ { "id": "P37173", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P37173" } ] } ] }, { "uniprot_ac": "P38438", "gene_name": "Tgfbr2", "activity": [ { "ec_number": "2.7.11.30", "activity": "ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho-L-threonyl-[receptor-protein].", "evidence": [ { "id": "P38438", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38438" } ] }, { "ec_number": "2.7.11.30", "activity": "", "evidence": [ { "id": "P38438", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38438" } ] } ] }, { "uniprot_ac": "P38444", "gene_name": "Acvr2a", "activity": [ { "ec_number": "2.7.11.30", "activity": "ATP + L-threonyl-[receptor-protein] = ADP + H(+) + 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