{
  "url": "https://dantelabs.com/fi/genes/nhlh2",
  "gene": {
    "slug": "nhlh2",
    "symbol": "NHLH2",
    "name": "nescient helix-loop-helix 2",
    "hgnc": "HGNC:7818",
    "summary": null,
    "location": "1p13.1",
    "locusType": "gene with protein product",
    "aliases": [
      "NSCL2",
      "bHLHa34"
    ],
    "previousSymbols": [
      "HEN2"
    ],
    "ensemblId": "ENSG00000177551",
    "entrezId": 4808,
    "omim": [
      "162361"
    ],
    "uniprot": [
      "Q02577"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 115836377,
      "end": 115841126,
      "strand": "-",
      "ensemblTranscript": "ENST00000320238.3",
      "refseqTranscript": "NM_005599.3",
      "ensemblProtein": "ENSP00000322087.3",
      "refseqProtein": "NP_005590.1",
      "exons": [
        {
          "start": 115836377,
          "end": 115838380
        },
        {
          "start": 115840216,
          "end": 115840544
        },
        {
          "start": 115840948,
          "end": 115841126
        }
      ],
      "cds": {
        "start": 115837965,
        "end": 115838372
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 116378998,
      "end": 116386538,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 115338752,
      "end": 116338751,
      "genes": [
        {
          "symbol": "NGF",
          "ensemblId": "ENSG00000134259",
          "biotype": "protein_coding",
          "start": 115285904,
          "end": 115338770,
          "strand": "-",
          "slug": "ngf"
        },
        {
          "symbol": "VANGL1",
          "ensemblId": "ENSG00000173218",
          "biotype": "protein_coding",
          "start": 115641854,
          "end": 115698224,
          "strand": "+",
          "slug": "vangl1"
        },
        {
          "symbol": "CASQ2",
          "ensemblId": "ENSG00000118729",
          "biotype": "protein_coding",
          "start": 115697988,
          "end": 115837921,
          "strand": "-",
          "slug": "casq2"
        },
        {
          "symbol": "SLC22A15",
          "ensemblId": "ENSG00000163393",
          "biotype": "protein_coding",
          "start": 115976310,
          "end": 116072747,
          "strand": "+",
          "slug": "slc22a15"
        },
        {
          "symbol": "MAB21L3",
          "ensemblId": "ENSG00000173212",
          "biotype": "protein_coding",
          "start": 116111068,
          "end": 116138149,
          "strand": "+",
          "slug": "mab21l3"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-the-dentition",
        "name": "Abnormal dentition",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-dentition"
      },
      {
        "slug": "abnormality-of-body-height",
        "name": "Abnormality of body height",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-body-height"
      },
      {
        "slug": "abnormality-of-the-voice",
        "name": "Abnormality of the voice",
        "systems": [],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-voice"
      },
      {
        "slug": "absence-of-pubertal-development",
        "name": "Absence of pubertal development",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absence-of-pubertal-development"
      },
      {
        "slug": "absence-of-secondary-sex-characteristics",
        "name": "Absence of secondary sex characteristics",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/absence-of-secondary-sex-characteristics"
      },
      {
        "slug": "azoospermia",
        "name": "Absent sperm in semen",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/azoospermia"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "congenital-sensorineural-hearing-impairment",
        "name": "Congenital sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congenital-sensorineural-hearing-impairment"
      },
      {
        "slug": "decreased-circulating-follicle-stimulating-hormone-concentration",
        "name": "Decreased circulating follicle stimulating hormone concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-follicle-stimulating-hormone-concentration"
      },
      {
        "slug": "decreased-circulating-luteinizing-hormone-level",
        "name": "Decreased circulating luteinizing hormone level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-luteinizing-hormone-level"
      },
      {
        "slug": "male-hypogonadism",
        "name": "Decreased function of male gonad",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/male-hypogonadism"
      },
      {
        "slug": "decreased-serum-testosterone-concentration",
        "name": "Decreased serum testosterone level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-serum-testosterone-concentration"
      },
      {
        "slug": "decreased-testicular-size",
        "name": "Decreased testicular size",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-testicular-size"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "delayed-puberty",
        "name": "Delayed puberty",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-puberty"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "impotence",
        "name": "Difficulty getting a full erection",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/impotence"
      },
      {
        "slug": "gynecomastia",
        "name": "Enlarged male breast",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gynecomastia"
      },
      {
        "slug": "eunuchoid-habitus",
        "name": "Eunuchoid habitus",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/eunuchoid-habitus"
      },
      {
        "slug": "female-hypogonadism",
        "name": "Female hypogonadism",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/female-hypogonadism"
      },
      {
        "slug": "generalized-joint-hypermobility",
        "name": "Hypermobility of all joints",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-joint-hypermobility"
      },
      {
        "slug": "hypogonadotropic-hypogonadism",
        "name": "Hypogonadotropic hypogonadism",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypogonadotropic-hypogonadism"
      },
      {
        "slug": "increased-female-libido",
        "name": "Increased female sex drive",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-female-libido"
      },
      {
        "slug": "non-obstructive-azoospermia",
        "name": "Non-obstructive azoospermia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/non-obstructive-azoospermia"
      },
      {
        "slug": "obesity",
        "name": "Obesity",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/obesity"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "camptodactyly",
        "name": "Permanent flexion of the finger or toe",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/camptodactyly"
      },
      {
        "slug": "secondary-amenorrhea",
        "name": "Previous menstrual periods stop",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/secondary-amenorrhea"
      },
      {
        "slug": "primary-amenorrhea",
        "name": "Primary amenorrhea",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/primary-amenorrhea"
      },
      {
        "slug": "reduced-response-to-gonadotropin-releasing-hormone-stimulation-test",
        "name": "Reduced response to gonadotropin-releasing hormone stimulation test",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-response-to-gonadotropin-releasing-hormone-stimulation-test"
      },
      {
        "slug": "micropenis",
        "name": "Short penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/micropenis"
      },
      {
        "slug": "hypoplasia-of-the-uterus",
        "name": "Small uterus",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-uterus"
      },
      {
        "slug": "sparse-body-hair",
        "name": "Sparse body hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sparse-body-hair"
      },
      {
        "slug": "breast-hypoplasia",
        "name": "Underdeveloped breasts",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/breast-hypoplasia"
      },
      {
        "slug": "hypoplasia-of-the-ovary",
        "name": "Underdeveloped ovary",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-ovary"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertelorism"
      },
      {
        "slug": "wide-intermamillary-distance",
        "name": "Wide-spaced nipples",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/wide-intermamillary-distance"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}