{ "uniprot_canonical_ac": "O60383-1", "uniprot_ac": "O60383", "uniprot_id": "GDF9_HUMAN", "mass": { "chemical_mass": 51444.0, "monoisotopic_mass": 51444.0 }, "refseq": { "ac": "NP_001275753", "name": "growth/differentiation factor 9 isoform 2", "summary": "This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates ovarian function. Reduced expression of this gene may be associated with polycystic ovary syndrome and mutations in this gene may be more common in mothers of dizygotic twins. [provided by RefSeq, Jul 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275753" }, "gene_names": [ { "name": "GDF9", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60383", "id": "O60383" }, { "name": "GDF9", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275753", "id": "NP_001275753" }, { "name": "POF14", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275753", "id": "NP_001275753" } ], "protein_names": [ { "name": "Growth/differentiation factor 9", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60383" }, { "name": "GDF-9", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60383" }, { "name": "growth/differentiation factor 9 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275753", "id": "NP_001275753" } ], "function": [ { "annotation": "Decreased GDF9 and BMP15 in follicle fluid and granulosa cells and outcomes of IVF-ET among young patients with low prognosis.", "evidence": [ { "database": "RefSeq", "id": "NP_001275753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275753" }, { "database": "PubMed", "id": "36689045", "url": "https://glygen.org/publication/PubMed/36689045" } ] }, { "annotation": "GDF9 concentration in embryo culture medium is linked to human embryo quality and viability.", "evidence": [ { "database": "RefSeq", "id": "NP_001275753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275753" }, { "database": "PubMed", "id": "34845575", "url": "https://glygen.org/publication/PubMed/34845575" } ] }, { "annotation": "Interleukin 17 and Growth Differentiation Factor 9 Influence in a Sample of Iraqi Infertile Males. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001275753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275753" }, { "database": "PubMed", "id": "38028840", "url": "https://glygen.org/publication/PubMed/38028840" } ] }, { "annotation": "Required for ovarian folliculogenesis. Promotes primordial follicle development. Stimulates granulosa cell proliferation. Promotes cell transition from G0/G1 to S and G2/M phases, through an increase of CCND1 and CCNE1 expression, and RB1 phosphorylation. It regulates STAR expression and cAMP-dependent progesterone release in granulosa and thecal cells. Attenuates the suppressive effects of activin A on STAR expression and progesterone production by increasing the expression of inhibin B. It suppresses FST and FSTL3 production in granulosa-lutein cells.", "evidence": [ { "database": "UniProtKB", "id": "O60383", "url": "https://www.uniprot.org/uniprot/O60383#function" }, { "database": "PubMed", "id": "12050262", "url": "https://glygen.org/publication/PubMed/12050262" }, { "database": "PubMed", "id": "20660033", "url": "https://glygen.org/publication/PubMed/20660033" }, { "database": "PubMed", "id": "19366876", "url": "https://glygen.org/publication/PubMed/19366876" }, { "database": "PubMed", "id": "21632818", "url": "https://glygen.org/publication/PubMed/21632818" }, { "database": "PubMed", "id": "21829661", "url": "https://glygen.org/publication/PubMed/21829661" } ] }, { "annotation": "Serum GDF9 and BMP15 as potential markers of ovarian function in women with and without polycystic ovary syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_001275753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275753" }, { "database": "PubMed", "id": "36372988", "url": "https://glygen.org/publication/PubMed/36372988" } ] }, { "annotation": "This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates ovarian function. Reduced expression of this gene may be associated with polycystic ovary syndrome and mutations in this gene may be more common in mothers of dizygotic twins. [provided by RefSeq, Jul 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001275753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275753" } ] } ], "disease": [ { "disease_id": "DOID:0080871", "recommended_name": { "id": "DOID:0080871", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080871", "name": "primary ovarian insufficiency 14", "description": "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the GDF9 gene on chromosome 5q31." }, "synonyms": [ { "id": "MONDO:0044777", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044777", "name": "premature ovarian failure 14", "description": "" }, { "id": "MONDO:0044777", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044777", "name": "premature ovarian failure 14", "description": "" }, { "id": "MONDO:0044777", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044777", "name": "GDF9-related primary ovarian insufficiency", "description": "" }, { "id": "MONDO:0044777", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044777", "name": "POF14", "description": "" }, { "id": "MIM:618014", "resource": "MIM", "url": "https://www.omim.org/entry/618014", "name": "Premature ovarian failure 14", "description": "Premature ovarian failure 14" } ], "evidence": [ { "id": "618014", "database": "MIM", "url": "https://www.omim.org/entry/618014" } ] } ], "snv": [ { "evidence": [ { "id": "rs779967455", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779967455" }, { "id": "rs779967455", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779967455" }, { "id": "rs779967455", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779967455" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "start_pos": 163, "end_pos": 163, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->SNS); n-glyco-sequon-gain (NIN->NIS).", "chr_id": "5", "chr_pos": "132862202", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N163", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765964867", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765964867" }, { "id": "rs765964867", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765964867" }, { "id": "rs765964867", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765964867" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 106, "end_pos": 106, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRS->DRS).", "chr_id": "5", "chr_pos": "132864218", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N106", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1335614535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1335614535" }, { "id": "rs1335614535", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1335614535" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 108, "end_pos": 108, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRS->NRL).", "chr_id": "5", "chr_pos": "132862367", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S108", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs148994190", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148994190" }, { "id": "rs148994190", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148994190" }, { "id": "rs148994190", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs148994190#frequency_tab" }, { "id": "rs148994190", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs148994190" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 108, "end_pos": 108, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRS->NRN).", "chr_id": "5", "chr_pos": "132864211", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S108", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1581248711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1581248711" }, { "id": "rs1581248711", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1581248711" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 147, "end_pos": 147, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "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", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O60383", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60383" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { 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"url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { 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"" }, { "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": "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": 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O60383", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60383" } ], "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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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60383" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"MARPNKFLLWFCCFAWLCFPISLGSQASGGEAQIAASAELESGAMPWSLLQHIDERDRAGLLPALFKVLSVGRGGSPRLQPDSRALHYMKKLYKTYATKEGIPKSNRSHLYNTVRLFTPCTRHKQAPGDQVTGILPSVELLFNLDRITTVEHLLKSVLLYNINNSVSFSSAVKCVCNLMIKEPKSSSRTLGRAPYSFTFNSQFEFGKKHKWIQIDVTSLLQPLVASNKRSIHMSINFTCMKDQLEHPSAQNGLFNMTLVSPSLILYLNDTSAQAYHSWYSLHYKRRPSQGPDQERSLSAYPVGEEAAEDGRSSHHRHRRGQETVSSELKKPLGPASFNLSEYFRQFLLPQNECELHDFRLSFSQLKWDNWIVAPHRYNPRYCKGDCPRAVGHRYGSPVHTMVQNIIYEKLDSSVPRPSCVPAKYSPLSVLTIEPDGSIAYKEYEDMIATKCTCR", "length": 454, "header": "sp|O60383-1|GDF9_HUMAN Isoform 1 of Growth/differentiation factor 9 OS=Homo sapiens OX=9606 GN=GDF9 PE=1 SV=1 CANONICAL=O60383-1" }, "locus": { "chromosome": "5", "start_pos": 132864533, "end_pos": 132861592, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000464378.2", "url": "https://www.ensembl.org/id/ENST00000464378.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000509893.1", "url": "https://www.ensembl.org/id/ENSP00000509893.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 106, "start_aa": "Asn", "end_pos": 106, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn106", "evidence": [ { "id": "O60383", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60383#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 163, "start_aa": "Asn", "end_pos": 163, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn163", "evidence": [ { "id": "O60383", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60383#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 236, "start_aa": "Asn", "end_pos": 236, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn236", "evidence": [ { "id": "O60383", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60383#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 255, "start_aa": "Asn", "end_pos": 255, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn255", "evidence": [ { "id": "O60383", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60383#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 268, "start_aa": "Asn", "end_pos": 268, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn268", "evidence": [ { "id": "O60383", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60383#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 338, "start_aa": "Asn", "end_pos": 338, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn338", "evidence": [ { "id": "O60383", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60383#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 325, "end_pos": 325, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by CK", "evidence": [ { "database": "UniProtKB", "id": "O60383", "url": "https://www.uniprot.org/uniprot/O60383" }, { "database": "iPTMnet", "id": "O60383", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60383" }, { "database": "PubMed", "id": "20067794", "url": "https://glygen.org/publication/PubMed/20067794" } ], "site_lbl": "Ser325" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Human growth differentiation factor 9 (GDF-9) and its novel homolog GDF-9B are expressed in oocytes during early folliculogenesis.", "journal": "J. Clin. Endocrinol. Metab.", "date": "1999", "authors": "Aaltonen J, Laitinen MP, Vuojolainen K, Jaatinen R, Horelli-Kuitunen N, Seppa L, Louhio H, Tuuri T, Sjoberg J, Butzow R, Hovata O, Dale L, Ritvos O", "evidence": [ { "database": "UniProtKB", "id": "O60383", "url": "https://www.uniprot.org/uniprot/O60383" } ], "reference": [ { "type": "PubMed", "id": "10443672", "url": "https://glygen.org/publication/PubMed/10443672" } ] }, { "title": "Growth differentiation factor-9 inhibits 3'5'-adenosine monophosphate-stimulated steroidogenesis in human granulosa and theca cells.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2002", "authors": "Yamamoto N, Christenson LK, McAllister JM, Strauss JF 3rd", "evidence": [ { "database": "UniProtKB", "id": "O60383", "url": "https://www.uniprot.org/uniprot/O60383" } ], "reference": [ { "type": "PubMed", "id": "12050262", "url": "https://glygen.org/publication/PubMed/12050262" } ] }, { "title": "Mutational screening of the coding region of growth differentiation factor 9 gene in Indian women with ovarian failure.", "journal": "Menopause (New York, N.Y.)", "date": "2005", "authors": "Dixit H, Rao LK, Padmalatha V, Kanakavalli M, Deenadayal M, Gupta N, Chakravarty B, Singh L", "evidence": [ { "database": "UniProtKB", "id": "O60383", "url": "https://www.uniprot.org/uniprot/O60383" } ], "reference": [ { "type": "PubMed", "id": "16278619", "url": "https://glygen.org/publication/PubMed/16278619" } ] }, { "title": "Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure.", "journal": "European journal of endocrinology", "date": "2006", "authors": "Laissue P, Christin-Maitre S, Touraine P, Kuttenn F, Ritvos O, Aittomaki K, Bourcigaux N, Jacquesson L, Bouchard P, Frydman R, Dewailly D, Reyss AC, Jeffery L, Bachelot A, Massin N, Fellous M, Veitia RA", "evidence": [ { "database": "UniProtKB", "id": "O60383", "url": "https://www.uniprot.org/uniprot/O60383" } ], "reference": [ { "type": "PubMed", "id": "16645022", "url": "https://glygen.org/publication/PubMed/16645022" } ] }, { "title": "Novel variants in growth differentiation factor 9 in mothers of dizygotic twins.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2006", "authors": "Palmer JS, Zhao ZZ, Hoekstra C, Hayward NK, Webb PM, Whiteman DC, Martin NG, Boomsma DI, Duffy DL, Montgomery GW", "evidence": [ { "database": "UniProtKB", "id": "O60383", "url": "https://www.uniprot.org/uniprot/O60383" } ], "reference": [ { "type": "PubMed", "id": "16954162", "url": "https://glygen.org/publication/PubMed/16954162" } ] }, { "title": "Growth differentiating factor-9 mutations may be associated with premature ovarian failure.", "journal": "Fertility and sterility", "date": "2007", "authors": "Kovanci E, Rohozinski J, Simpson JL, Heard MJ, Bishop CE, Carson SA", "evidence": [ { "database": "UniProtKB", "id": "O60383", "url": "https://www.uniprot.org/uniprot/O60383" } ], "reference": [ { "type": "PubMed", "id": "17156781", "url": "https://glygen.org/publication/PubMed/17156781" } ] }, { "title": "Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure.", "journal": "Fertility and sterility", "date": "2007", "authors": "Zhao H, Qin Y, Kovanci E, Simpson JL, Chen ZJ, Rajkovic A", "evidence": [ { "database": "UniProtKB", "id": "O60383", "url": "https://www.uniprot.org/uniprot/O60383" } ], "reference": [ { "type": "PubMed", "id": "17482612", "url": "https://glygen.org/publication/PubMed/17482612" } ] }, { "title": "Phosphorylation of bone morphogenetic protein-15 and growth and differentiation factor-9 plays a critical role in determining agonistic or antagonistic functions.", "journal": "Endocrinology", "date": "2008", "authors": "McMahon HE, Sharma S, Shimasaki S", "evidence": [ { "database": "UniProtKB", "id": "O60383", "url": "https://www.uniprot.org/uniprot/O60383" } ], "reference": [ { "type": "PubMed", "id": "18006624", "url": "https://glygen.org/publication/PubMed/18006624" } ] }, { "title": "Effects of growth differentiation factor 9 on cell cycle regulators and ERK42/44 in human granulosa cell proliferation.", "journal": "American journal of physiology. Endocrinology and metabolism", "date": "2009-06", "authors": "Huang Qing, Cheung Anthony P, Zhang Yu, Huang He-Feng, Auersperg Nelly, Leung Peter C K", "evidence": [ { "database": "UniProtKB", "id": "O60383", "url": "https://www.uniprot.org/uniprot/O60383" } ], "reference": [ { "type": "PubMed", "id": "19366876", "url": "https://glygen.org/publication/PubMed/19366876" } ] }, { "title": "Analyses of growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) mutation in Chinese women with premature ovarian failure.", "journal": "Clinical endocrinology", "date": "2010", "authors": "Wang B, Wen Q, Ni F, Zhou S, Wang J, Cao Y, Ma X", "evidence": [ { "database": "UniProtKB", "id": "O60383", "url": "https://www.uniprot.org/uniprot/O60383" } ], "reference": [ { "type": "PubMed", "id": "19438907", "url": "https://glygen.org/publication/PubMed/19438907" } ] }, { "title": "Golgi apparatus casein kinase phosphorylates bioactive Ser-6 of bone morphogenetic protein 15 and growth and differentiation factor 9.", "journal": "FEBS letters", "date": "2010", "authors": "Tibaldi E, Arrigoni G, Martinez HM, Inagaki K, Shimasaki S, Pinna LA", "evidence": [ { "database": "UniProtKB", "id": "O60383", "url": "https://www.uniprot.org/uniprot/O60383" }, { "database": "iPTMnet", "id": "O60383", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60383" } ], "reference": [ { "type": "PubMed", "id": "20067794", "url": "https://glygen.org/publication/PubMed/20067794" } ] }, { "title": "Growth differentiation factor 9 reverses activin A suppression of steroidogenic acute regulatory protein expression and progesterone production in human granulosa-lutein cells.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2010", "authors": "Shi FT, Cheung AP, Klausen C, Huang HF, Leung PC", "evidence": [ { "database": "UniProtKB", "id": "O60383", "url": "https://www.uniprot.org/uniprot/O60383" } ], "reference": [ { "type": "PubMed", "id": "20660033", "url": "https://glygen.org/publication/PubMed/20660033" } ] }, { "title": "Growth differentiating factor 9 (GDF9) and bone morphogenetic protein 15 both activate development of human primordial follicles in vitro, with seemingly more beneficial effects of GDF9.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2011-08", "authors": "Kedem Alon, Fisch Benjamin, Garor Roni, Ben-Zaken Adi, Gizunterman Taya, Felz Carmela, Ben-Haroush Avi, Kravarusic Dragan, Abir Ronit", "evidence": [ { "database": "UniProtKB", "id": "O60383", "url": "https://www.uniprot.org/uniprot/O60383" } ], "reference": [ { "type": "PubMed", "id": "21632818", "url": "https://glygen.org/publication/PubMed/21632818" } ] }, { "title": "Growth differentiation factor 9 (GDF9) suppresses follistatin and follistatin-like 3 production in human granulosa-lutein cells.", "journal": "PloS one", "date": "2011", "authors": "Shi Feng-Tao, Cheung Anthony P, Huang He-Feng, Leung Peter C K", "evidence": [ { "database": "UniProtKB", "id": "O60383", "url": "https://www.uniprot.org/uniprot/O60383" } ], "reference": [ { "type": "PubMed", "id": "21829661", "url": "https://glygen.org/publication/PubMed/21829661" } ] }, { "title": "The ratio of growth differentiation factor 9: bone morphogenetic protein 15 mRNA expression is tightly co-regulated and differs between species over a wide range of ovulation rates.", "journal": "Mol. Cell. Endocrinol.", "date": "2012", "authors": "Crawford Janet L, McNatty Kenneth P", "evidence": [ { "database": "UniProtKB", "id": "O60383", "url": "https://www.uniprot.org/uniprot/O60383" } ], "reference": [ { "type": "PubMed", "id": "21970812", "url": "https://glygen.org/publication/PubMed/21970812" } ] }, { "title": "Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing.", "journal": "Clin. Genet.", "date": "2018", "authors": "Fran\u00e7a M M, Funari M F A, Nishi M Y, Narcizo A M, Domenice S, Costa E M F, Lerario A M, Mendonca B B", "evidence": [ { "database": "UniProtKB", "id": "O60383", "url": "https://www.uniprot.org/uniprot/O60383" } ], "reference": [ { "type": "PubMed", "id": "29044499", "url": "https://glygen.org/publication/PubMed/29044499" } ] }, { "title": "GDF9 concentration in embryo culture medium is linked to human embryo quality and viability.", "journal": "Journal of assisted reproduction and genetics", "date": "2022", "authors": "Li J, Li C, Liu X, Yang J, Zhang Q, Han W, Huang G", "evidence": [ { "database": "RefSeq", "id": "NP_001275753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275753" } ], "reference": [ { "type": "PubMed", "id": "34845575", "url": "https://glygen.org/publication/PubMed/34845575" } ] }, { "title": "Serum GDF9 and BMP15 as potential markers of ovarian function in women with and without polycystic ovary syndrome.", "journal": "Clinical endocrinology", "date": "2022-11-13", "authors": "Riepsamen Angelique H, Donoghoe Mark W, Indran Inthrani R, Hechtman Leah, Robertson David M, Gilchrist Robert B, Ledger William L, Yong Eu-Leong", "evidence": [ { "database": "RefSeq", "id": "NP_001275753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275753" } ], "reference": [ { "type": "PubMed", "id": "36372988", "url": "https://glygen.org/publication/PubMed/36372988" } ] }, { "title": "Decreased GDF9 and BMP15 in follicle fluid and granulosa cells and outcomes of IVF-ET among young patients with low prognosis.", "journal": "Journal of assisted reproduction and genetics", "date": "2023-03", "authors": "Huang Tian-Hong, Chen Fu-Rui, Zhang Ya-Nan, Chen Shi-Qi, Long Fang-Yi, Wei Jia-Jing, Zhang Kun, Zeng Jiu-Zhi, Zhu Qiao-Ying, Li-Ling Jesse, Gong Yan", "evidence": [ { "database": "RefSeq", "id": "NP_001275753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275753" } ], "reference": [ { "type": "PubMed", "id": "36689045", "url": "https://glygen.org/publication/PubMed/36689045" } ] }, { "title": "Interleukin 17 and Growth Differentiation Factor 9 Influence in a Sample of Iraqi Infertile Males.", "journal": "Archives of Razi Institute", "date": "2023-06", "authors": "Al-Rubaye D S, Mohammed Hamza H, Ahmed Al-Khafaji Q", "evidence": [ { "database": "RefSeq", "id": "NP_001275753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275753" } ], "reference": [ { "type": "PubMed", "id": "38028840", "url": "https://glygen.org/publication/PubMed/38028840" } ] } ], "pathway": [ { "id": "hsa:2661", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2661", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q07105-1", "protein_name": "Growth/differentiation factor 9", "gene_name": "Gdf9", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MALPSNFLLGVCCFAWLCFLSSLSSQASTEESQSGASENVESEADPWSLLLPVDGTDRSGLLPPLFKVLSDRRGETPKLQPDSRALYYMKKLYKTYATKEGVPKPSRSHLYNTVRLFSPCAQQEQAPSNQVTGPLPMVDLLFNLDRVTAMEHLLKSVLLYTLNNSASSSSTVTCMCDLVVKEAMSSGRAPPRAPYSFTLKKHRWIEIDVTSLLQPLVTSSERSIHLSVNFTCTKDQVPEDGVFSMPLSVPPSLILYLNDTSTQAYHSWQSLQSTWRPLQHPGQAGVAARPVKEEAIEVERSPRRRRGQKAIRSEAKGPLLTASFNLSEYFKQFLFPQNECELHDFRLSFSQLKWDNWIVAPHRYNPRYCKGDCPRAVRHRYGSPVHTMVQNIIYEKLDPSVPRPSCVPGKYSPLSVLTIEPDGSIAYKEYEDMIATRCTCR", "length": 441 }, "evidence": [ { "id": "45919477", "url": "http://www.informatics.jax.org/homology/45919477", "database": "MGI" }, { "id": "O60383", "url": "https://omabrowser.org/oma/group/O60383/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9QYW4-1", "protein_name": "Growth/differentiation factor 9", "gene_name": "Gdf9", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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