{
  "url": "https://dantelabs.com/no/genes/ighmbp2",
  "gene": {
    "slug": "ighmbp2",
    "symbol": "IGHMBP2",
    "name": "immunoglobulin mu DNA binding protein 2",
    "hgnc": "HGNC:5542",
    "summary": null,
    "location": "11q13.3",
    "locusType": "gene with protein product",
    "aliases": [
      "ZFAND7",
      "SMUBP2",
      "CATF1",
      "SMARD1",
      "HCSA",
      "HMN6",
      "CMT2S"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000132740",
    "entrezId": 3508,
    "omim": [
      "600502"
    ],
    "uniprot": [
      "P38935"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 68903891,
      "end": 68940601,
      "strand": "+",
      "ensemblTranscript": "ENST00000255078.8",
      "refseqTranscript": "NM_002180.3",
      "ensemblProtein": "ENSP00000255078.4",
      "refseqProtein": "NP_002171.2",
      "exons": [
        {
          "start": 68903891,
          "end": 68904038
        },
        {
          "start": 68906069,
          "end": 68906238
        },
        {
          "start": 68908145,
          "end": 68908337
        },
        {
          "start": 68908534,
          "end": 68908631
        },
        {
          "start": 68911440,
          "end": 68911603
        },
        {
          "start": 68914823,
          "end": 68915023
        },
        {
          "start": 68917736,
          "end": 68917883
        },
        {
          "start": 68929183,
          "end": 68929357
        },
        {
          "start": 68933299,
          "end": 68933481
        },
        {
          "start": 68933795,
          "end": 68933913
        },
        {
          "start": 68934464,
          "end": 68934558
        },
        {
          "start": 68935299,
          "end": 68935422
        },
        {
          "start": 68936237,
          "end": 68937091
        },
        {
          "start": 68938182,
          "end": 68938354
        },
        {
          "start": 68939534,
          "end": 68940601
        }
      ],
      "cds": {
        "start": 68903953,
        "end": 68939731
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 68671310,
      "end": 68708070,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 68422246,
      "end": 69422245,
      "genes": [
        {
          "symbol": "LRP5",
          "ensemblId": "ENSG00000162337",
          "biotype": "protein_coding",
          "start": 68312430,
          "end": 68449275,
          "strand": "+",
          "slug": "lrp5"
        },
        {
          "symbol": "PPP6R3",
          "ensemblId": "ENSG00000110075",
          "biotype": "protein_coding",
          "start": 68460475,
          "end": 68615343,
          "strand": "+",
          "slug": "ppp6r3"
        },
        {
          "symbol": "GAL",
          "ensemblId": "ENSG00000069482",
          "biotype": "protein_coding",
          "start": 68683020,
          "end": 68691205,
          "strand": "+",
          "slug": "gal"
        },
        {
          "symbol": "TESMIN",
          "ensemblId": "ENSG00000132749",
          "biotype": "protein_coding",
          "start": 68705313,
          "end": 68751569,
          "strand": "-",
          "slug": "tesmin"
        },
        {
          "symbol": "CPT1A",
          "ensemblId": "ENSG00000110090",
          "biotype": "protein_coding",
          "start": 68754620,
          "end": 68844410,
          "strand": "-",
          "slug": "cpt1a"
        },
        {
          "symbol": "MRPL21",
          "ensemblId": "ENSG00000197345",
          "biotype": "protein_coding",
          "start": 68862382,
          "end": 68903841,
          "strand": "-",
          "slug": "mrpl21"
        },
        {
          "symbol": "MRGPRD",
          "ensemblId": "ENSG00000172938",
          "biotype": "protein_coding",
          "start": 68980021,
          "end": 68980986,
          "strand": "-",
          "slug": "mrgprd"
        },
        {
          "symbol": "MRGPRF",
          "ensemblId": "ENSG00000172935",
          "biotype": "protein_coding",
          "start": 69004376,
          "end": 69014407,
          "strand": "-",
          "slug": "mrgprf"
        },
        {
          "symbol": "TPCN2",
          "ensemblId": "ENSG00000162341",
          "biotype": "protein_coding",
          "start": 69048844,
          "end": 69136317,
          "strand": "+",
          "slug": "tpcn2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000287725",
          "biotype": "protein_coding",
          "start": 69072915,
          "end": 69162440,
          "strand": "+"
        },
        {
          "symbol": "SMIM38",
          "ensemblId": "ENSG00000284713",
          "biotype": "protein_coding",
          "start": 69155478,
          "end": 69162440,
          "strand": "+",
          "slug": "smim38"
        },
        {
          "symbol": "MYEOV",
          "ensemblId": "ENSG00000172927",
          "biotype": "protein_coding",
          "start": 69294114,
          "end": 69341682,
          "strand": "+",
          "slug": "myeov"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "charcot-marie-tooth-disease-type-1",
        "name": "Charcot-Marie-Tooth-sykdom",
        "diseases": [
          {
            "mondoId": "MONDO:0018894",
            "name": "Distal hereditær motorisk nevropati",
            "genes": 22,
            "inheritance": null,
            "description": "Arvelige nevropatier som hovedsakelig rammer motoriske nerver og gir svakhet og muskelatrofi i hender og føtter, inkludert SORD-relatert nevropati.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0015626",
            "name": "Charcot-Marie-Tooth sykdom",
            "genes": 62,
            "inheritance": null,
            "description": "En gruppe arvelige perifere nevropatier som gir progressiv svakhet og atrofi i de distale musklene og tap av sensibilitet, hovedsakelig i føtter og hender.",
            "management": "Genetisk veiledning, undertypespesifikk oppfølging, fysioterapi, ortopediske hjelpemidler, unngåelse av nevrotoksiske legemidler, genspesifikke kliniske studier, overvåking for tilknyttede symptomer",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/no/conditions/charcot-marie-tooth-disease-type-1"
      },
      {
        "slug": "spinal-muscular-atrophy",
        "name": "Spinal muskelatrofi",
        "diseases": [
          {
            "mondoId": "MONDO:0001516",
            "name": "Spinal muskelatrofi",
            "genes": 28,
            "inheritance": null,
            "description": "En gruppe sykdommer preget av degenerasjon av fremre hornceller i ryggmargen, som fører til progressiv muskelsvakhet og muskelatrofi.",
            "management": "Genterapi (onasemnogen abeparvovec), antisense-oligonukleotidbehandling (nusinersen), oral splicing-modifikator (risdiplam), støttende behandling",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/spinal-muscular-atrophy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "areflexia-of-lower-limbs",
        "name": "Areflexia of lower limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/areflexia-of-lower-limbs"
      },
      {
        "slug": "areflexia-of-upper-limbs",
        "name": "Areflexia of upper limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/areflexia-of-upper-limbs"
      },
      {
        "slug": "axonal-degeneration",
        "name": "Axonal degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/axonal-degeneration"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "upper-limb-muscle-weakness",
        "name": "Decreased arm strength",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/upper-limb-muscle-weakness"
      },
      {
        "slug": "decreased-nerve-conduction-velocity",
        "name": "Decreased nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-nerve-conduction-velocity"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "distal-sensory-impairment",
        "name": "Decreased sensation in extremities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-sensory-impairment"
      },
      {
        "slug": "degeneration-of-anterior-horn-cells",
        "name": "Degeneration of anterior horn cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/degeneration-of-anterior-horn-cells"
      },
      {
        "slug": "denervation-of-the-diaphragm",
        "name": "Denervation of the diaphragm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/denervation-of-the-diaphragm"
      },
      {
        "slug": "diaphragmatic-eventration",
        "name": "Diaphragmatic eventration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/diaphragmatic-eventration"
      },
      {
        "slug": "diaphragmatic-paralysis",
        "name": "Diaphragmatic paralysis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/diaphragmatic-paralysis"
      },
      {
        "slug": "distal-amyotrophy",
        "name": "Distal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/distal-amyotrophy"
      },
      {
        "slug": "emg-neuropathic-changes",
        "name": "EMG: neuropathic changes",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/emg-neuropathic-changes"
      },
      {
        "slug": "hyperhidrosis",
        "name": "Excessive sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/hyperhidrosis"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "foot-dorsiflexor-weakness",
        "name": "Foot drop",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness"
      },
      {
        "slug": "steppage-gait",
        "name": "High stepping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/steppage-gait"
      },
      {
        "slug": "tachypnea",
        "name": "Increased respiratory rate or depth of breathing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/tachypnea"
      },
      {
        "slug": "inspiratory-stridor",
        "name": "Inspiratory stridor",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/inspiratory-stridor"
      },
      {
        "slug": "decreased-fetal-movement",
        "name": "Less than 10 fetal movements in 12 hours",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "url": "https://dantelabs.com/traits/decreased-fetal-movement"
      },
      {
        "slug": "limb-muscle-weakness",
        "name": "Limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/limb-muscle-weakness"
      },
      {
        "slug": "urinary-incontinence",
        "name": "Loss of bladder control",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/urinary-incontinence"
      },
      {
        "slug": "neonatal-hypotonia",
        "name": "Low muscle tone, in neonatal onset",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/neonatal-hypotonia"
      },
      {
        "slug": "lower-limb-muscle-weakness",
        "name": "Lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness"
      },
      {
        "slug": "sensorimotor-neuropathy",
        "name": "Nerve damage causing decreased feeling and movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/sensorimotor-neuropathy"
      },
      {
        "slug": "peripheral-axonal-degeneration",
        "name": "Peripheral axonal degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/peripheral-axonal-degeneration"
      },
      {
        "slug": "camptodactyly-of-finger",
        "name": "Permanent flexion of the finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/camptodactyly-of-finger"
      },
      {
        "slug": "premature-birth",
        "name": "Premature birth",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "url": "https://dantelabs.com/traits/premature-birth"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "proximal-muscle-weakness",
        "name": "Proximal neurogenic muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/proximal-muscle-weakness"
      },
      {
        "slug": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      },
      {
        "slug": "spinal-muscular-atrophy",
        "name": "Spinal muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/spinal-muscular-atrophy"
      },
      {
        "slug": "ventilator-dependence-with-inability-to-wean",
        "name": "Ventilator dependence with inability to wean",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/ventilator-dependence-with-inability-to-wean"
      },
      {
        "slug": "tongue-atrophy",
        "name": "Wasting of the tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tongue-atrophy"
      },
      {
        "slug": "weak-cry",
        "name": "Weak cry",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "url": "https://dantelabs.com/traits/weak-cry"
      },
      {
        "slug": "diaphragmatic-weakness",
        "name": "Weak diaphragm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/diaphragmatic-weakness"
      },
      {
        "slug": "distal-muscle-weakness",
        "name": "Weakness of outermost muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/distal-muscle-weakness"
      }
    ],
    "related": [
      {
        "slug": "dync1h1",
        "symbol": "DYNC1H1",
        "name": "dynein cytoplasmic 1 heavy chain 1",
        "shared": 3,
        "url": "https://dantelabs.com/no/genes/dync1h1"
      },
      {
        "slug": "gars1",
        "symbol": "GARS1",
        "name": "glycyl-tRNA synthetase 1",
        "shared": 3,
        "url": "https://dantelabs.com/no/genes/gars1"
      },
      {
        "slug": "hspb8",
        "symbol": "HSPB8",
        "name": "heat shock protein family B (small) member 8",
        "shared": 3,
        "url": "https://dantelabs.com/no/genes/hspb8"
      },
      {
        "slug": "plekhg5",
        "symbol": "PLEKHG5",
        "name": "pleckstrin homology and RhoGEF domain containing G5",
        "shared": 3,
        "url": "https://dantelabs.com/no/genes/plekhg5"
      },
      {
        "slug": "atp7a",
        "symbol": "ATP7A",
        "name": "ATPase copper transporting alpha",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/atp7a"
      },
      {
        "slug": "bscl2",
        "symbol": "BSCL2",
        "name": "BSCL2 lipid droplet biogenesis associated, seipin",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/bscl2"
      },
      {
        "slug": "dctn1",
        "symbol": "DCTN1",
        "name": "dynactin subunit 1",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/dctn1"
      },
      {
        "slug": "dnajb2",
        "symbol": "DNAJB2",
        "name": "DnaJ heat shock protein family (Hsp40) member B2",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/dnajb2"
      },
      {
        "slug": "emilin1",
        "symbol": "EMILIN1",
        "name": "elastin microfibril interfacer 1",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/emilin1"
      },
      {
        "slug": "fbxo38",
        "symbol": "FBXO38",
        "name": "F-box protein 38",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/fbxo38"
      },
      {
        "slug": "reep1",
        "symbol": "REEP1",
        "name": "receptor accessory protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/reep1"
      },
      {
        "slug": "sigmar1",
        "symbol": "SIGMAR1",
        "name": "sigma receptor chaperone 1",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/sigmar1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}