{ "uniprot_canonical_ac": "O75603-1", "uniprot_ac": "O75603", "uniprot_id": "GCM2_HUMAN", "mass": { "chemical_mass": 56610.0, "monoisotopic_mass": 56610.0 }, "refseq": { "ac": "NP_004743", "name": "chorion-specific transcription factor GCMb", "summary": "This gene is a homolog of the Drosophila glial cells missing gene, which is thought to act as a binary switch between neuronal and glial cell determination. The protein encoded by this gene contains a conserved N-terminal GCM motif that has DNA-binding activity. The protein is a transcription factor that acts as a master regulator of parathyroid development. It has been suggested that this transcription factor might mediate the effect of calcium on parathyroid hormone expression and secretion in parathyroid cells. Mutations in this gene are associated with hypoparathyroidism. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004743" }, "gene_names": [ { "name": "GCM2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75603", "id": "O75603" }, { "name": "FIH2; GCMB; hGCMb; HRPT4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004743", "id": "NP_004743" }, { "name": "GCM2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004743", "id": "NP_004743" }, { "name": "GCMB", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75603", "id": "O75603" } ], "protein_names": [ { "name": "Chorion-specific transcription factor GCMb", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75603" }, { "name": "GCM motif protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75603" }, { "name": "Glial cells missing homolog 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75603" }, { "name": "chorion-specific transcription factor GCMb", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004743", "id": "NP_004743" }, { "name": "glide/gcm protein homolog; GCM motif protein 2; glial cells missing 2; glial cells missing homolog b; glial cells missing homolog 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004743", "id": "NP_004743" }, { "name": "hGCMb", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75603" } ], "function": [ { "annotation": "Five patients with disorders of calcium metabolism presented with GCM2 gene variants. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004743", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004743" }, { "database": "PubMed", "id": "33536578", "url": "https://glygen.org/publication/PubMed/33536578" } ] }, { "annotation": "GCM2 Silencing in Parathyroid Adenoma Is Associated With Promoter Hypermethylation and Gain of Methylation on Histone 3.", "evidence": [ { "database": "RefSeq", "id": "NP_004743", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004743" }, { "database": "PubMed", "id": "34077544", "url": "https://glygen.org/publication/PubMed/34077544" } ] }, { "annotation": "GCM2 Variants in Familial and Multiglandular Primary Hyperparathyroidism.", "evidence": [ { "database": "RefSeq", "id": "NP_004743", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004743" }, { "database": "PubMed", "id": "34967908", "url": "https://glygen.org/publication/PubMed/34967908" } ] }, { "annotation": "GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004743", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004743" }, { "database": "PubMed", "id": "38130397", "url": "https://glygen.org/publication/PubMed/38130397" } ] }, { "annotation": "Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004743", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004743" }, { "database": "PubMed", "id": "35038313", "url": "https://glygen.org/publication/PubMed/35038313" } ] }, { "annotation": "The glial cell missing gene, GCMB , encodes a transcription factor, which is a master regulator of parathyroid development. GCMB expression is upregulated in abnormal parathyroid glands of hyperparathyroidism and decreases in response to hypocalcemia.", "evidence": [ { "database": "RefSeq", "id": "NP_004743", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004743" }, { "database": "PubMed", "id": "15657585", "url": "https://glygen.org/publication/PubMed/15657585" } ] }, { "annotation": "This gene is a homolog of the Drosophila glial cells missing gene, which is thought to act as a binary switch between neuronal and glial cell determination. The protein encoded by this gene contains a conserved N-terminal GCM motif that has DNA-binding activity. The protein is a transcription factor that acts as a master regulator of parathyroid development. It has been suggested that this transcription factor might mediate the effect of calcium on parathyroid hormone expression and secretion in parathyroid cells. Mutations in this gene are associated with hypoparathyroidism. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_004743", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004743" } ] }, { "annotation": "Transcription factor that binds specific sequences on gene promoters and activate their transcription. Through the regulation of gene transcription, may play a role in parathyroid gland development.", "evidence": [ { "database": "UniProtKB", "id": "O75603", "url": "https://www.uniprot.org/uniprot/O75603#function" }, { "database": "PubMed", "id": "20190276", "url": "https://glygen.org/publication/PubMed/20190276" }, { "database": "PubMed", "id": "27745835", "url": "https://glygen.org/publication/PubMed/27745835" }, { "database": "PubMed", "id": "9928992", "url": "https://glygen.org/publication/PubMed/9928992" } ] } ], "disease": [ { "disease_id": "MONDO:0020798", "recommended_name": { "id": "MONDO:0020798", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020798", "name": "hypoparathyroidism, familial isolated, 2", "description": "" }, "synonyms": [ { "id": "MONDO:0020798", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020798", "name": "FIH2", "description": "" }, { "id": "MONDO:0020798", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020798", "name": "hypoparathyroidism, familial isolated 2", "description": "" }, { "id": "MONDO:0020798", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020798", "name": "hypoparathyroidism, familial isolated, 2", "description": "" }, { "id": "MIM:618883", "resource": "MIM", "url": "https://www.omim.org/entry/618883", "name": "Hypoparathyroidism, familial isolated, 2", "description": "Hypoparathyroidism, familial isolated, 2" } ], "evidence": [ { "id": "618883", "database": "MIM", "url": "https://www.omim.org/entry/618883" } ] }, { "disease_id": "MONDO:0024570", "recommended_name": { "id": "MONDO:0024570", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024570", "name": "hyperparathyroidism 4", "description": "Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene." }, "synonyms": [ { "id": "MONDO:0024570", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024570", "name": "GCM2 familial isolated hyperparathyroidism", "description": "" }, { "id": "MONDO:0024570", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024570", "name": "familial isolated hyperparathyroidism caused by mutation in GCM2", "description": "" }, { "id": "MONDO:0024570", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024570", "name": "hyperparathyroidism 4", "description": "" }, { "id": "MONDO:0024570", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024570", "name": "hyperparathyroidism type 4", "description": "" }, { "id": "MONDO:0024570", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024570", "name": "HRPT4", "description": "" }, { "id": "MIM:617343", "resource": "MIM", "url": "https://www.omim.org/entry/617343", "name": "Hyperparathyroidism 4", "description": "Hyperparathyroidism 4" } ], "evidence": [ { "id": "617343", "database": "MIM", "url": "https://www.omim.org/entry/617343" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "36.87", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000124827", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124827" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000124827", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124827" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "27.66", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124827", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124827" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000124827", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124827" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000124827", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124827" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "23.44", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000124827", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124827" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000124827", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124827" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "35.01", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000124827", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124827" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "33.43", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124827", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124827" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124827", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124827" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "31.37", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000124827", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124827" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "28.35", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000124827", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124827" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "33.23", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000124827", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124827" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75603", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75603" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": 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"https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", 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"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": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "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 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"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, 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"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": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75603" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "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": "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, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "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 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"MONDO:0008903", "resource": "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" } ] } ] }, { "significant": "No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O75603", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75603" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75603", "url": "https://www.uniprot.org/uniprot/O75603" } ], "common_name": "Human" } ], "gene": [ { "name": "GCM2", "url": "https://www.uniprot.org/uniprot/O75603", "locus": { "chromosome": "6", "start_pos": 10873223, "end_pos": 10882041, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000124827", "url": "https://www.ensembl.org/id/ENSG00000124827" } ] } } ], "crossref": [ { "id": "ENSG00000124827", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124827", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "GCM2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=GCM2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "9247", "url": "https://www.ncbi.nlm.nih.gov/gene/9247", "database": "GeneID", "categories": [ 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"InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9247", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9247", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603716", "url": "http://www.omim.org/entry/603716", "database": "MIM", "categories": [ "Other" ] }, { "id": "617343", "url": "http://www.omim.org/entry/617343", "database": "MIM", "categories": [ "Other" ] }, { "id": "618883", "url": "http://www.omim.org/entry/618883", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75603", "url": "https://www.nextprot.org/entry/NX_O75603", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "PFQKYPN", "url": "https://omabrowser.org/oma/group/PFQKYPN/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2900401at2759", "url": "http://www.orthodb.org/?query=2900401at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12414", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12414", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12414:SF7", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12414:SF7", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF03615", "url": "http://pfam.xfam.org/family/PF03615", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75603", "url": "https://pharos.nih.gov/targets/O75603", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75603", "url": "http://purl.obolibrary.org/obo/PR_O75603", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_004743", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004743", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O75603", "url": "https://www.uniprot.org/uniprot/O75603", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75603-1", "url": "https://www.uniprot.org/uniprot/O75603-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPAAAVQEAVGVCSYGMQLSWDINDPQMPQELALFDQFREWPDGYVRFIYSSDEKKAQRHLSGWAMRNTNNHNGHILKKSCLGVVVCTQACTLPDGSRLQLRPAICDKARLKQQKKACPNCHSALELIPCRGHSGYPVTNFWRLDGNAIFFQAKGVHDHPRPESKSETEARRSAIKRQMASFYQPQKKRIRESEAEENQDSSGHFSNIPPLENPEDFDIVTETSFPIPGQPCPSFPKSDVYKATCDLATFQGDKMPPFQKYSSPRIYLPRPPCSYELANPGYTNSSPYPTLYKDSTSIPNDTDWVHLNTLQCNVNSYSSYERSFDFTNKQHGWKPALGKPSLVERTNHGQFQAMATRPYYNPELPCRYLTTPPPGAPALQTVITTTTKVSYQAYQPPAMKYSDSVREVKSLSSCNYAPEDTGMSVYPEPWGPPVTVTRAASPSGPPPMKIAGDCRAIRPTVAIPHEPVSSRTDEAETWDVCLSGLGSAVSYSDRVGPFFTYNNEDF", "length": 506, "header": "sp|O75603-1|GCM2_HUMAN Isoform 1 of Chorion-specific transcription factor GCMb OS=Homo sapiens OX=9606 GN=GCM2 PE=1 SV=1 CANONICAL=O75603-1" }, "isoforms": [ { "isoform_ac": "O75603-1", "url": "", "sequence": { "sequence": "MPAAAVQEAVGVCSYGMQLSWDINDPQMPQELALFDQFREWPDGYVRFIYSSDEKKAQRHLSGWAMRNTNNHNGHILKKSCLGVVVCTQACTLPDGSRLQLRPAICDKARLKQQKKACPNCHSALELIPCRGHSGYPVTNFWRLDGNAIFFQAKGVHDHPRPESKSETEARRSAIKRQMASFYQPQKKRIRESEAEENQDSSGHFSNIPPLENPEDFDIVTETSFPIPGQPCPSFPKSDVYKATCDLATFQGDKMPPFQKYSSPRIYLPRPPCSYELANPGYTNSSPYPTLYKDSTSIPNDTDWVHLNTLQCNVNSYSSYERSFDFTNKQHGWKPALGKPSLVERTNHGQFQAMATRPYYNPELPCRYLTTPPPGAPALQTVITTTTKVSYQAYQPPAMKYSDSVREVKSLSSCNYAPEDTGMSVYPEPWGPPVTVTRAASPSGPPPMKIAGDCRAIRPTVAIPHEPVSSRTDEAETWDVCLSGLGSAVSYSDRVGPFFTYNNEDF", "length": 506, "header": "sp|O75603-1|GCM2_HUMAN Isoform 1 of Chorion-specific transcription factor GCMb OS=Homo sapiens OX=9606 GN=GCM2 PE=1 SV=1 CANONICAL=O75603-1" }, "locus": { "chromosome": "6", "start_pos": 10881793, "end_pos": 10873998, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000379491.5", "url": "https://www.ensembl.org/id/ENST00000379491.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000368805.4", "url": "https://www.ensembl.org/id/ENSP00000368805.4" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "GCMB, a second human homolog of the fly glide/gcm gene.", "journal": "Cytogenet. Cell Genet.", "date": "1999", "authors": "Kammerer M, Pirola B, Giglio S, Giangrande A", "evidence": [ { "database": "UniProtKB", "id": "O75603", "url": "https://www.uniprot.org/uniprot/O75603" } ], "reference": [ { "type": "PubMed", "id": "10343099", "url": "https://glygen.org/publication/PubMed/10343099" } ] }, { "title": "GCMB gene, a master regulator of parathyroid gland development, expression, and regulation in hyperparathyroidism.", "journal": "Surgery", "date": "2004", "authors": "Kebebew E, Peng M, Wong MG, Ginzinger D, Duh QY, Clark OH", "evidence": [ { "database": "RefSeq", "id": "NP_004743", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004743" } ], "reference": [ { "type": "PubMed", "id": "15657585", "url": "https://glygen.org/publication/PubMed/15657585" } ] }, { "title": "GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2005", "authors": "Thomee C, Schubert SW, Parma J, Le PQ, Hashemolhosseini S, Wegner M, Abramowicz MJ", "evidence": [ { "database": "UniProtKB", "id": "O75603", "url": "https://www.uniprot.org/uniprot/O75603" } ], "reference": [ { "type": "PubMed", "id": "15728199", "url": "https://glygen.org/publication/PubMed/15728199" } ] }, { "title": "Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism.", "journal": "Journal of medical genetics", "date": "2005", "authors": "Baumber L, Tufarelli C, Patel S, King P, Johnson CA, Maher ER, Trembath RC", "evidence": [ { "database": "UniProtKB", "id": "O75603", "url": "https://www.uniprot.org/uniprot/O75603" } ], "reference": [ { "type": "PubMed", "id": "15863676", "url": "https://glygen.org/publication/PubMed/15863676" } ] }, { "title": "Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.", "journal": "Human molecular genetics", "date": "2010", "authors": "Bowl MR, Mirczuk SM, Grigorieva IV, Piret SE, Cranston T, Southam L, Allgrove J, Bahl S, Brain C, Loughlin J, Mughal Z, Ryan F, Shaw N, Thakker YV, Tiosano D, Nesbit MA, Thakker RV", "evidence": [ { "database": "UniProtKB", "id": "O75603", "url": "https://www.uniprot.org/uniprot/O75603" } ], "reference": [ { "type": "PubMed", "id": "20190276", "url": "https://glygen.org/publication/PubMed/20190276" } ] }, { "title": "A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2010", "authors": "Mirczuk SM, Bowl MR, Nesbit MA, Cranston T, Fratter C, Allgrove J, Brain C, Thakker RV", "evidence": [ { "database": "UniProtKB", "id": "O75603", "url": "https://www.uniprot.org/uniprot/O75603" } ], "reference": [ { "type": "PubMed", "id": "20463099", "url": "https://glygen.org/publication/PubMed/20463099" } ] }, { "title": "Mutational analysis of GCMB, a parathyroid-specific transcription factor, in parathyroid adenoma of primary hyperparathyroidism.", "journal": "The Journal of endocrinology", "date": "2011", "authors": "Mannstadt M, Holick E, Zhao W, Juppner H", "evidence": [ { "database": "UniProtKB", "id": "O75603", "url": "https://www.uniprot.org/uniprot/O75603" } ], "reference": [ { "type": "PubMed", "id": "21642377", "url": "https://glygen.org/publication/PubMed/21642377" } ] }, { "title": "A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism.", "journal": "Journal of pediatric endocrinology & metabolism : JPEM", "date": "2012", "authors": "Doyle D, Kirwin SM, Sol-Church K, Levine MA", "evidence": [ { "database": "UniProtKB", "id": "O75603", "url": "https://www.uniprot.org/uniprot/O75603" } ], "reference": [ { "type": "PubMed", "id": "23155703", "url": "https://glygen.org/publication/PubMed/23155703" } ] }, { "title": "GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.", "journal": "American journal of human genetics", "date": "2016", "authors": "Guan B, Welch JM, Sapp JC, Ling H, Li Y, Johnston JJ, Kebebew E, Biesecker LG, Simonds WF, Marx SJ, Agarwal SK", "evidence": [ { "database": "UniProtKB", "id": "O75603", "url": "https://www.uniprot.org/uniprot/O75603" } ], "reference": [ { "type": "PubMed", "id": "27745835", "url": "https://glygen.org/publication/PubMed/27745835" } ] }, { "title": "Specifying the molecular pattern of sporadic parathyroid tumorigenesis-The Y282D variant of the GCM2 gene.", "journal": "Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie", "date": "2017", "authors": "Marchiori E, Pelizzo MR, Herten M, Townsend DM, Rubello D, Boschin IM", "evidence": [ { "database": "Entrez", "id": "9247", "url": "https://www.ncbi.nlm.nih.gov/gene/9247" } ], "reference": [ { "type": "PubMed", "id": "28609842", "url": "https://glygen.org/publication/PubMed/28609842" } ] }, { "title": "Five patients with disorders of calcium metabolism presented with GCM2 gene variants.", "journal": "Scientific reports", "date": "2021", "authors": "Garcia-Castano A, Madariaga L, Gomez-Conde S, Cordo CLR, Lopez-Iglesias M, Garcia-Fernandez Y, Martin A, Gonzalez P, Goicolea I, de Nanclares GP, De la Hoz AB, Aguayo A, de LaPiscina IM, Martinez R, Saso L, Urrutia I, Velasco O, Castano L, Gaztambide S", "evidence": [ { "database": "RefSeq", "id": "NP_004743", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004743" } ], "reference": [ { "type": "PubMed", "id": "33536578", "url": "https://glygen.org/publication/PubMed/33536578" } ] }, { "title": "GCM2 Silencing in Parathyroid Adenoma Is Associated With Promoter Hypermethylation and Gain of Methylation on Histone 3.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2021", "authors": "Singh P, Bhadada SK, Dahiya D, Saikia UN, Arya AK, Sachdeva N, Kaur J, Behera A, Brandi ML, Rao SD", "evidence": [ { "database": "RefSeq", "id": "NP_004743", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004743" } ], "reference": [ { "type": "PubMed", "id": "34077544", "url": "https://glygen.org/publication/PubMed/34077544" } ] }, { "title": "GCM2 Variants in Familial and Multiglandular Primary Hyperparathyroidism.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2022", "authors": "Vincze S, Peters NV, Kuo CL, Brown TC, Korah R, Murtha TD, Bellizzi J, Riccardi A, Parham K, Carling T, Costa-Guda J, Arnold A", "evidence": [ { "database": "RefSeq", "id": "NP_004743", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004743" } ], "reference": [ { "type": "PubMed", "id": "34967908", "url": "https://glygen.org/publication/PubMed/34967908" } ] }, { "title": "Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders.", "journal": "European journal of endocrinology", "date": "2022", "authors": "Canaff L, Guarnieri V, Kim Y, Wong BYL, Nolin-Lapalme A, Cole DEC, Minisola S, Eller-Vainicher C, Cetani F, Repaci A, Turchetti D, Corbetta S, Scillitani A, Goltzman D", "evidence": [ { "database": "RefSeq", "id": "NP_004743", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004743" } ], "reference": [ { "type": "PubMed", "id": "35038313", "url": "https://glygen.org/publication/PubMed/35038313" } ] }, { "title": "GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism.", "journal": "Frontiers in endocrinology", "date": "2023", "authors": "Szalat Auryan, Shpitzen Shoshana, Pollack Rena, Mazeh Haggi, Durst Ronen, Meiner Vardiella", "evidence": [ { "database": "RefSeq", "id": "NP_004743", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004743" } ], "reference": [ { "type": "PubMed", "id": "38130397", "url": "https://glygen.org/publication/PubMed/38130397" } ] }, { "title": "Isolation and expression analysis of a novel human homologue of the Drosophila glial cells missing (gcm) gene.", "journal": "FEBS letters", "date": "1999-01-15", "authors": "Kanemura Y, Hiraga S, Arita N, Ohnishi T, Izumoto S, Mori K, Matsumura H, Yamasaki M, Fushiki S, Yoshimine T", "evidence": [ { "database": "UniProtKB", "id": "O75603", "url": "https://www.uniprot.org/uniprot/O75603" } ], "reference": [ { "type": "PubMed", "id": "9928992", "url": "https://glygen.org/publication/PubMed/9928992" } ] } ], "pathway": [ { "id": "hsa:9247", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9247", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZXW4-1", "protein_name": "Glial cells missing transcription factor 2", "gene_name": "Gcm2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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