{ "url": "https://dantelabs.com/nl/genes/spint2", "gene": { "slug": "spint2", "symbol": "SPINT2", "name": "serine peptidase inhibitor, Kunitz type 2", "hgnc": "HGNC:11247", "summary": null, "location": "19q13.2", "locusType": "gene with protein product", "aliases": [ "Kop", "HAI-2", "HAI2" ], "previousSymbols": [], "ensemblId": "ENSG00000167642", "entrezId": 10653, "omim": [ "605124" ], "uniprot": [ "O43291" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 38264573, "end": 38292615, "strand": "+", "ensemblTranscript": "ENST00000301244.12", "refseqTranscript": "NM_021102.4", "ensemblProtein": "ENSP00000301244.5", "refseqProtein": "NP_066925.1", "exons": [ { "start": 38264573, "end": 38264998 }, { "start": 38283627, "end": 38283797 }, { "start": 38287876, "end": 38287935 }, { "start": 38289138, "end": 38289191 }, { "start": 38290119, "end": 38290280 }, { "start": 38290537, "end": 38290575 }, { "start": 38291840, "end": 38292615 } ], "cds": { "start": 38264893, 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"end": 38388274, "strand": "-", "slug": "ggn" }, { "symbol": "SPRED3", "ensemblId": "ENSG00000188766", "biotype": "protein_coding", "start": 38388421, "end": 38399588, "strand": "+", "slug": "spred3" }, { "symbol": "TSLIG3C", "ensemblId": "ENSG00000130244", "biotype": "protein_coding", "start": 38403093, "end": 38409088, "strand": "+", "slug": "tslig3c" }, { "symbol": "RASGRP4", "ensemblId": "ENSG00000171777", "biotype": "protein_coding", "start": 38409051, "end": 38426305, "strand": "-", "slug": "rasgrp4" }, { "symbol": "RYR1", "ensemblId": "ENSG00000196218", "biotype": "protein_coding", "start": 38433691, "end": 38595273, "strand": "+", "slug": "ryr1" }, { "symbol": "MAP4K1", "ensemblId": "ENSG00000104814", "biotype": "protein_coding", "start": 38587641, "end": 38619161, "strand": "-", "slug": "map4k1" }, { "symbol": "EIF3K", "ensemblId": "ENSG00000178982", "biotype": "protein_coding", "start": 38619055, "end": 38636959, "strand": "+", "slug": "eif3k" }, { "symbol": "ACTN4", "ensemblId": "ENSG00000130402", "biotype": "protein_coding", "start": 38647515, "end": 38731589, "strand": "+", "slug": "actn4" }, { "symbol": "CAPN12", "ensemblId": "ENSG00000182472", "biotype": "protein_coding", "start": 38730187, "end": 38769904, "strand": "-", "slug": "capn12" }, { "symbol": "LGALS7", "ensemblId": "ENSG00000205076", "biotype": "protein_coding", "start": 38770968, "end": 38773542, "strand": "-", "slug": "lgals7" } ], "truncated": false }, "reports": [ { "slug": "congenital-diarrhoeas-and-enteropathies", "name": "Aangeboren diarree en enteropathieën", "diseases": [ { "mondoId": "MONDO:0000824", "name": "Aangeboren diarree", "genes": 12, "inheritance": null, "description": "Erfelijke aandoeningen, waaronder aangeboren chloridediarree (SLC26A3), microvillus-inclusieziekte (MYO5B), tufting-enteropathie (EPCAM) en aangeboren natriumdiarree (SPINT2, SLC9A3), die chronische diarree veroorzaken vanaf de vroege zuigelingenleeftijd.", "management": "Een specifieke diagnose stuurt de behandeling, zoals vervanging van elektrolyten bij chloridediarree, of vroegtijdige planning van parenterale voeding of darmtransplantatie bij microvillus-inclusieziekte en tufting-enteropathie.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/nl/conditions/congenital-diarrhoeas-and-enteropathies" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-distention", "name": "Abdominal bloating", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/abdominal-distention" }, { "slug": "rectovaginal-fistula", "name": "Abnormal connection between rectum and vagina", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/rectovaginal-fistula" }, { "slug": "anal-atresia", "name": "Absent anus", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anal-atresia" }, { "slug": "macrocephaly", "name": "Big calvaria", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/macrocephaly" }, { "slug": "choanal-atresia", "name": "Blockage of the rear opening of the nasal cavity", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/choanal-atresia" }, { "slug": "cleft-palate", "name": "Cleft palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/cleft-palate" }, { "slug": "corneal-erosion", "name": "Damage to outer layer of the cornea of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/corneal-erosion" }, { "slug": "ureteral-duplication", "name": "Double ureter", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ureteral-duplication" }, { "slug": "renal-duplication", "name": "Extra kidney", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/renal-duplication" }, { "slug": "cutis-laxa", "name": "Hanging skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cutis-laxa" }, { "slug": "polyhydramnios", "name": "High levels of amniotic fluid", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/polyhydramnios" }, { "slug": "intestinal-malrotation", "name": "Intestinal malrotation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intestinal-malrotation" }, { "slug": "low-set-ears", "name": "Low-set ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/low-set-ears" }, { "slug": "optic-disc-coloboma", "name": "Optic disc coloboma", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/optic-disc-coloboma" }, { "slug": "secretory-diarrhea", "name": "Secretory diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/secretory-diarrhea" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypertelorism" } ], "related": [ { "slug": "dgat1", "symbol": "DGAT1", "name": "diacylglycerol O-acyltransferase 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/dgat1" }, { "slug": "epcam", "symbol": "EPCAM", "name": "epithelial cell adhesion molecule", "shared": 1, "url": "https://dantelabs.com/nl/genes/epcam" }, { "slug": "gucy2c", "symbol": "GUCY2C", "name": "guanylate cyclase 2C", "shared": 1, "url": "https://dantelabs.com/nl/genes/gucy2c" }, { "slug": "myo5b", "symbol": "MYO5B", "name": "myosin VB", "shared": 1, "url": "https://dantelabs.com/nl/genes/myo5b" }, { "slug": "neurog3", "symbol": "NEUROG3", "name": "neurogenin 3", "shared": 1, "url": "https://dantelabs.com/nl/genes/neurog3" }, { "slug": "plvap", "symbol": "PLVAP", "name": "plasmalemma vesicle associated protein", "shared": 1, "url": "https://dantelabs.com/nl/genes/plvap" }, { "slug": "slc26a3", "symbol": "SLC26A3", "name": "solute carrier family 26 member 3", "shared": 1, "url": "https://dantelabs.com/nl/genes/slc26a3" }, { "slug": "slc5a1", "symbol": "SLC5A1", "name": "solute carrier family 5 member 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/slc5a1" }, { "slug": "slc9a3", "symbol": "SLC9A3", "name": "solute carrier family 9 member A3", "shared": 1, "url": "https://dantelabs.com/nl/genes/slc9a3" }, { "slug": "stx3", "symbol": "STX3", "name": "syntaxin 3", "shared": 1, "url": "https://dantelabs.com/nl/genes/stx3" }, { "slug": "wnt2b", "symbol": "WNT2B", "name": "Wnt family member 2B", "shared": 1, "url": "https://dantelabs.com/nl/genes/wnt2b" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }