{
  "url": "https://dantelabs.com/cs/genes/vipas39",
  "gene": {
    "slug": "vipas39",
    "symbol": "VIPAS39",
    "name": "VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog",
    "hgnc": "HGNC:20347",
    "summary": null,
    "location": "14q24.3",
    "locusType": "gene with protein product",
    "aliases": [
      "VIPAR",
      "VPS16B",
      "SPE-39",
      "SPE39",
      "hSPE-39"
    ],
    "previousSymbols": [
      "C14orf133"
    ],
    "ensemblId": "ENSG00000151445",
    "entrezId": 63894,
    "omim": [
      "613401"
    ],
    "uniprot": [
      "Q9H9C1"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "14",
      "start": 77426675,
      "end": 77457601,
      "strand": "-",
      "ensemblTranscript": "ENST00000557658.6",
      "refseqTranscript": "NM_001193315.2",
      "ensemblProtein": "ENSP00000452191.1",
      "refseqProtein": "NP_001180244.1",
      "exons": [
        {
          "start": 77426675,
          "end": 77427636
        },
        {
          "start": 77428370,
          "end": 77428474
        },
        {
          "start": 77429006,
          "end": 77429095
        },
        {
          "start": 77429681,
          "end": 77429767
        },
        {
          "start": 77433842,
          "end": 77433931
        },
        {
          "start": 77434262,
          "end": 77434303
        },
        {
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          "end": 77435393
        },
        {
          "start": 77435844,
          "end": 77435919
        },
        {
          "start": 77437808,
          "end": 77437881
        },
        {
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          "end": 77441093
        },
        {
          "start": 77442560,
          "end": 77442662
        },
        {
          "start": 77443119,
          "end": 77443152
        },
        {
          "start": 77444249,
          "end": 77444341
        },
        {
          "start": 77448494,
          "end": 77448550
        },
        {
          "start": 77449293,
          "end": 77449357
        },
        {
          "start": 77449714,
          "end": 77449752
        },
        {
          "start": 77451187,
          "end": 77451333
        },
        {
          "start": 77453299,
          "end": 77453401
        },
        {
          "start": 77454010,
          "end": 77454102
        },
        {
          "start": 77457495,
          "end": 77457601
        }
      ],
      "cds": {
        "start": 77427616,
        "end": 77454102
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "14",
      "start": 77893018,
      "end": 77924295,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 76942138,
      "end": 77942137,
      "genes": [
        {
          "symbol": "IRF2BPL",
          "ensemblId": "ENSG00000119669",
          "biotype": "protein_coding",
          "start": 77024543,
          "end": 77028708,
          "strand": "-",
          "slug": "irf2bpl"
        },
        {
          "symbol": "CIPC",
          "ensemblId": "ENSG00000198894",
          "biotype": "protein_coding",
          "start": 77098126,
          "end": 77117287,
          "strand": "+",
          "slug": "cipc"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000259164",
          "biotype": "protein_coding",
          "start": 77098311,
          "end": 77225462,
          "strand": "+"
        },
        {
          "symbol": "TMEM63C",
          "ensemblId": "ENSG00000165548",
          "biotype": "protein_coding",
          "start": 77116568,
          "end": 77259498,
          "strand": "+",
          "slug": "tmem63c"
        },
        {
          "symbol": "ZDHHC22",
          "ensemblId": "ENSG00000177108",
          "biotype": "protein_coding",
          "start": 77131266,
          "end": 77143032,
          "strand": "-",
          "slug": "zdhhc22"
        },
        {
          "symbol": "NGB",
          "ensemblId": "ENSG00000165553",
          "biotype": "protein_coding",
          "start": 77265483,
          "end": 77271211,
          "strand": "-",
          "slug": "ngb"
        },
        {
          "symbol": "POMT2",
          "ensemblId": "ENSG00000009830",
          "biotype": "protein_coding",
          "start": 77274956,
          "end": 77320898,
          "strand": "-",
          "slug": "pomt2"
        },
        {
          "symbol": "GSTZ1",
          "ensemblId": "ENSG00000100577",
          "biotype": "protein_coding",
          "start": 77320996,
          "end": 77344021,
          "strand": "+",
          "slug": "gstz1"
        },
        {
          "symbol": "TMED8",
          "ensemblId": "ENSG00000100580",
          "biotype": "protein_coding",
          "start": 77335024,
          "end": 77377348,
          "strand": "-",
          "slug": "tmed8"
        },
        {
          "symbol": "SAMD15",
          "ensemblId": "ENSG00000100583",
          "biotype": "protein_coding",
          "start": 77376689,
          "end": 77392372,
          "strand": "+",
          "slug": "samd15"
        },
        {
          "symbol": "NOXRED1",
          "ensemblId": "ENSG00000165555",
          "biotype": "protein_coding",
          "start": 77394021,
          "end": 77423523,
          "strand": "-",
          "slug": "noxred1"
        },
        {
          "symbol": "AHSA1",
          "ensemblId": "ENSG00000100591",
          "biotype": "protein_coding",
          "start": 77457743,
          "end": 77469482,
          "strand": "+",
          "slug": "ahsa1"
        },
        {
          "symbol": "ISM2",
          "ensemblId": "ENSG00000100593",
          "biotype": "protein_coding",
          "start": 77474394,
          "end": 77499408,
          "strand": "-",
          "slug": "ism2"
        },
        {
          "symbol": "SPTLC2",
          "ensemblId": "ENSG00000100596",
          "biotype": "protein_coding",
          "start": 77505997,
          "end": 77616781,
          "strand": "-",
          "slug": "sptlc2"
        },
        {
          "symbol": "ALKBH1",
          "ensemblId": "ENSG00000100601",
          "biotype": "protein_coding",
          "start": 77672401,
          "end": 77708038,
          "strand": "-",
          "slug": "alkbh1"
        },
        {
          "symbol": "SLIRP",
          "ensemblId": "ENSG00000119705",
          "biotype": "protein_coding",
          "start": 77708045,
          "end": 77761104,
          "strand": "+",
          "slug": "slirp"
        },
        {
          "symbol": "SNW1",
          "ensemblId": "ENSG00000100603",
          "biotype": "protein_coding",
          "start": 77709019,
          "end": 77761207,
          "strand": "-",
          "slug": "snw1"
        },
        {
          "symbol": "ADCK1",
          "ensemblId": "ENSG00000063761",
          "biotype": "protein_coding",
          "start": 77800059,
          "end": 77937188,
          "strand": "+",
          "slug": "adck1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "arc-syndrome-2-vipas39",
        "name": "ARC Syndrome 2 (VIPAS39)",
        "diseases": [
          {
            "mondoId": "MONDO:0013255",
            "name": "Arthrogryposis, Renal Dysfunction and Cholestasis 2",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Caused by changes in both copies of VIPAS39. Changes in VPS33B cause the same syndrome, and the condition affects the liver, kidneys, skin and platelets.",
            "management": "Care is supportive, with nutrition, correction of salt and acid losses, treatment of itching and jaundice (ursodeoxycholic acid helped one reported patient), and attention to bleeding risk. Genetic testing is valuable, especially in atypical presentations. Genetic counselling explains the recessive inheritance, and carrier and prenatal testing are available for families.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/cs/conditions/arc-syndrome-2-vipas39"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-alpha-granules",
        "name": "Abnormal alpha granules",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-alpha-granules"
      },
      {
        "slug": "hip-dysplasia",
        "name": "Abnormal formation of the hip",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hip-dysplasia"
      },
      {
        "slug": "renal-tubular-dysfunction",
        "name": "Abnormal function of filtrating structures in kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-tubular-dysfunction"
      },
      {
        "slug": "abnormal-platelet-aggregation",
        "name": "Abnormal platelet aggregation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-platelet-aggregation"
      },
      {
        "slug": "abnormal-platelet-count",
        "name": "Abnormal platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-platelet-count"
      },
      {
        "slug": "aminoaciduria",
        "name": "Abnormal urinary amino-acid findings",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/aminoaciduria"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "renal-tubular-acidosis",
        "name": "Accumulation of acid in body due to kidney problem",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/renal-tubular-acidosis"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-corpus-callosum",
        "name": "Aplasia/Hypoplasia of the corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "arthrogryposis-multiplex-congenita",
        "name": "Arthrogryposis multiplex congenita",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/arthrogryposis-multiplex-congenita"
      },
      {
        "slug": "cholestatic-liver-disease",
        "name": "Cholestatic liver disease",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cholestatic-liver-disease"
      },
      {
        "slug": "chronic-diarrhea",
        "name": "Chronic diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-diarrhea"
      },
      {
        "slug": "congenital-bilateral-hip-dislocation",
        "name": "Congenital bilateral hip dislocation",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/congenital-bilateral-hip-dislocation"
      },
      {
        "slug": "conjugated-hyperbilirubinemia",
        "name": "Conjugated hyperbilirubinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/conjugated-hyperbilirubinemia"
      },
      {
        "slug": "elevated-gamma-glutamyltransferase-level",
        "name": "Elevated gamma-glutamyltransferase level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-gamma-glutamyltransferase-level"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "failure-to-thrive-in-infancy",
        "name": "Faltering weight in infancy",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive-in-infancy"
      },
      {
        "slug": "lissencephaly",
        "name": "Fewer or absent grooves in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lissencephaly"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "giant-cell-hepatitis",
        "name": "Giant cell hepatitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/giant-cell-hepatitis"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "glycosuria",
        "name": "Glucose in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/glycosuria"
      },
      {
        "slug": "cutis-laxa",
        "name": "Hanging skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cutis-laxa"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "proteinuria",
        "name": "High urine protein levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "ventricular-septal-defect",
        "name": "Hole in heart wall separating two lower heart chambers",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/ventricular-septal-defect"
      },
      {
        "slug": "hyperkeratosis",
        "name": "Hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperkeratosis"
      },
      {
        "slug": "ichthyosis",
        "name": "Ichthyosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ichthyosis"
      },
      {
        "slug": "nephrocalcinosis",
        "name": "Increased calcium level in kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nephrocalcinosis"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "intrahepatic-biliary-atresia",
        "name": "Intrahepatic biliary atresia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intrahepatic-biliary-atresia"
      },
      {
        "slug": "pruritus",
        "name": "Itching",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pruritus"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "nephropathy",
        "name": "Kidney damage",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/nephropathy"
      },
      {
        "slug": "decreased-fetal-movement",
        "name": "Less than 10 fetal movements in 12 hours",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-fetal-movement"
      },
      {
        "slug": "oligohydramnios",
        "name": "Low levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oligohydramnios"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "neonatal-cholestatic-liver-disease",
        "name": "Neonatal cholestatic liver disease",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neonatal-cholestatic-liver-disease"
      },
      {
        "slug": "nephrogenic-diabetes-insipidus",
        "name": "Nephrogenic diabetes insipidus",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nephrogenic-diabetes-insipidus"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "renal-fanconi-syndrome",
        "name": "Renal Fanconi syndrome",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-fanconi-syndrome"
      },
      {
        "slug": "right-ventricular-hypertrophy",
        "name": "Right ventricular hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/right-ventricular-hypertrophy"
      },
      {
        "slug": "sloping-forehead",
        "name": "Sloping forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/sloping-forehead"
      },
      {
        "slug": "pathologic-fracture",
        "name": "Spontaneous fracture",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pathologic-fracture"
      },
      {
        "slug": "talipes-calcaneovalgus",
        "name": "Talipes calcaneovalgus",
        "systems": [
          "abnormality-of-limbs"
        ],
        "url": "https://dantelabs.com/traits/talipes-calcaneovalgus"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}