{ "url": "https://dantelabs.com/fi/genes/gcm2", "gene": { "slug": "gcm2", "symbol": "GCM2", "name": "GCM transcription factor 2", "hgnc": "HGNC:4198", "summary": null, "location": "6p24.2", "locusType": "gene with protein product", "aliases": [ "hGCMb" ], "previousSymbols": [ "GCMB" ], "ensemblId": "ENSG00000124827", "entrezId": 9247, "omim": [ "603716" ], "uniprot": [ "O75603" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "6", "start": 10873223, "end": 10882041, "strand": "-", "ensemblTranscript": "ENST00000379491.5", "refseqTranscript": "NM_004752.4", "ensemblProtein": "ENSP00000368805.4", "refseqProtein": "NP_004743.1", "exons": [ { "start": 10873223, "end": 10874933 }, { "start": 10875891, "end": 10876016 }, { "start": 10876445, "end": 10876557 }, { "start": 10877140, "end": 10877392 }, { "start": 10881704, "end": 10882041 } ], "cds": { "start": 10873995, "end": 10881793 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "6", "start": 10873456, "end": 10882174, "strand": "-" }, "neighbourhood": { "release": "116", "start": 10377632, "end": 11377631, "genes": [ { "symbol": "TFAP2A", "ensemblId": "ENSG00000137203", "biotype": "protein_coding", "start": 10393186, "end": 10419659, "strand": "-", "slug": "tfap2a" }, { "symbol": "GCNT2", "ensemblId": "ENSG00000111846", "biotype": "protein_coding", "start": 10492223, "end": 10629377, "strand": "+", "slug": "gcnt2" }, { "symbol": "C6orf52", "ensemblId": "ENSG00000137434", "biotype": "protein_coding", "start": 10671283, "end": 10694797, "strand": "-", "slug": "c6orf52" }, { "symbol": "PAK1IP1", "ensemblId": "ENSG00000111845", "biotype": "protein_coding", "start": 10694633, "end": 10711168, "strand": "+", "slug": "pak1ip1" }, { "symbol": "TMEM14C", "ensemblId": "ENSG00000111843", "biotype": "protein_coding", "start": 10722915, "end": 10731141, "strand": "+", "slug": "tmem14c" }, { "symbol": "TMEM14B", "ensemblId": "ENSG00000137210", "biotype": "protein_coding", "start": 10747695, "end": 10866590, "strand": "+", "slug": "tmem14b" }, { "symbol": "", "ensemblId": "ENSG00000272162", "biotype": "protein_coding", "start": 10747794, "end": 10930423, "strand": "+" }, { "symbol": "MAK", "ensemblId": "ENSG00000111837", "biotype": "protein_coding", "start": 10762723, "end": 10838553, "strand": "-", "slug": "mak" }, { "symbol": "SYCP2L", "ensemblId": "ENSG00000153157", "biotype": "protein_coding", "start": 10886831, "end": 10979320, "strand": "+", "slug": "sycp2l" }, { "symbol": "ELOVL2", "ensemblId": "ENSG00000197977", "biotype": "protein_coding", "start": 10980742, "end": 11044446, "strand": "-", "slug": "elovl2" }, { "symbol": "SMIM13", "ensemblId": "ENSG00000224531", "biotype": "protein_coding", "start": 11093820, "end": 11138733, "strand": "+", "slug": "smim13" }, { "symbol": "KANGD1", "ensemblId": "ENSG00000293642", "biotype": "protein_coding", "start": 11093834, "end": 11138733, "strand": "+", "slug": "kangd1" }, { "symbol": "ERVFRD-1", "ensemblId": "ENSG00000244476", "biotype": "protein_coding", "start": 11102324, "end": 11111845, "strand": "-", "slug": "ervfrd-1" }, { "symbol": "NEDD9", "ensemblId": "ENSG00000111859", "biotype": "protein_coding", "start": 11181524, "end": 11382348, "strand": "-", "slug": "nedd9" } ], "truncated": false }, "reports": [ { "slug": "inherited-parathyroid-calcium-sensing-disorders", "name": "Perinnölliset kilpirauhasen lisäkkeiden ja kalsiumin säätelyn häiriöt", "diseases": [ { "mondoId": "MONDO:0015027", "name": "Perinnöllinen eristetty lisäkilpirauhasen liikatoiminta", "genes": 2, "inheritance": "autosomal-dominant", "description": "Suvussa esiintyvä lisäkilpirauhasen liikatoiminta ilman muita hormonaalisia kasvaimia.", "management": null, "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0016390", "name": "Perinnöllinen lisäkilpirauhasen vajaatoiminta", "genes": 4, "inheritance": null, "description": "Matala lisäkilpirauhashormonin ja matala veren kalsiumpitoisuus, mukaan lukien autosomaalisesti dominantti hypokalsemia, jonka aiheuttaa liiallinen kalsiumin tunnistus.", "management": "Autosomaalisesti dominantin hypokalsemian hoidossa tavallinen kalsium- ja D-vitamiinihoito voi pahentaa munuaisten kalsiumhäviötä, joten hoito vaatii erikoislääkärin tekemiä säätöjä.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fi/conditions/inherited-parathyroid-calcium-sensing-disorders" }, { "slug": "thyroid-cancer-report", "name": "Kilpirauhassyöpä", "diseases": [ { "mondoId": "MONDO:0001223", "name": "Lisäkilpirauhasen sairaus", "genes": 10, "inheritance": null, "description": "Lisäkilpirauhasta koskeva sairaus.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fi/conditions/thyroid-cancer-report" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-symptom", "name": "Abdominal symptom", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abdominal-symptom" }, { "slug": "chondrocalcinosis", "name": "Calcium deposits in joints", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/chondrocalcinosis" }, { "slug": "congenital-hypoparathyroidism", "name": "Congenital hypoparathyroidism", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/congenital-hypoparathyroidism" }, { "slug": "decreased-circulating-parathyroid-hormone-level", "name": "Decreased circulating parathyroid hormone level", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-circulating-parathyroid-hormone-level" }, { "slug": "elevated-circulating-parathyroid-hormone-level", "name": "Elevated circulating parathyroid hormone level", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/elevated-circulating-parathyroid-hormone-level" }, { "slug": "hypercalciuria", "name": "Elevated urine calcium levels", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypercalciuria" }, { "slug": "generalized-osteoporosis", "name": "Generalized osteoporosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/generalized-osteoporosis" }, { "slug": "hypercalcemia", "name": "High blood calcium levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypercalcemia" }, { "slug": "hyperphosphatemia", "name": "High blood phosphate levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hyperphosphatemia" }, { "slug": "hyperphosphaturia", "name": "High urine phosphate levels", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hyperphosphaturia" }, { "slug": "nephrocalcinosis", "name": "Increased calcium level in kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nephrocalcinosis" }, { "slug": "kidney-stone", "name": "Kidney stone", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/kidney-stone" }, { "slug": "hypocalcemia", "name": "Low blood calcium levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypocalcemia" }, { "slug": "hypomagnesemia", "name": "Low blood magnesium levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypomagnesemia" }, { "slug": "hypophosphatemia", "name": "Low blood phosphate level", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypophosphatemia" }, { "slug": "hypocalcemic-seizures", "name": "Low calcium seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypocalcemic-seizures" }, { "slug": "male-infertility", "name": "Male infertility", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/male-infertility" }, { "slug": "osteopenia", "name": "Osteopenia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/osteopenia" }, { "slug": "parathyroid-adenoma", "name": "Parathyroid adenoma", "systems": [ "abnormality-of-the-endocrine-system", "neoplasm" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/parathyroid-adenoma" }, { "slug": "parathyroid-agenesis", "name": "Parathyroid agenesis", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/parathyroid-agenesis" }, { "slug": "parathyroid-carcinoma", "name": "Parathyroid carcinoma", "systems": [ "abnormality-of-the-endocrine-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/parathyroid-carcinoma" }, { "slug": "primary-hyperparathyroidism", "name": "Primary hyperparathyroidism", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/primary-hyperparathyroidism" }, { "slug": "renal-insufficiency", "name": "Renal failure", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/renal-insufficiency" } ], "related": [ { "slug": "casr", "symbol": "CASR", "name": "calcium sensing receptor", "shared": 2, "url": "https://dantelabs.com/fi/genes/casr" }, { "slug": "cdc73", "symbol": "CDC73", "name": "cell division cycle 73", "shared": 2, "url": "https://dantelabs.com/fi/genes/cdc73" }, { "slug": "gna11", "symbol": "GNA11", "name": "G protein subunit alpha 11", "shared": 2, "url": "https://dantelabs.com/fi/genes/gna11" }, { "slug": "pth", "symbol": "PTH", "name": "parathyroid hormone", "shared": 2, "url": "https://dantelabs.com/fi/genes/pth" }, { "slug": "aire", "symbol": "AIRE", "name": "autoimmune regulator", "shared": 1, "url": "https://dantelabs.com/fi/genes/aire" }, { "slug": "gnas", "symbol": "GNAS", "name": "GNAS complex locus", "shared": 1, "url": "https://dantelabs.com/fi/genes/gnas" }, { "slug": "men1", "symbol": "MEN1", "name": "menin 1", "shared": 1, "url": "https://dantelabs.com/fi/genes/men1" }, { "slug": "stx16", "symbol": "STX16", "name": "syntaxin 16", "shared": 1, "url": "https://dantelabs.com/fi/genes/stx16" }, { "slug": "trpv6", "symbol": "TRPV6", "name": "transient receptor potential cation channel subfamily V member 6", "shared": 1, "url": "https://dantelabs.com/fi/genes/trpv6" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }