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Gene

SUFU

SUFU negative regulator of hedgehog signaling

Summary

Cytogenetic location
10q24.32
Coordinates
Chromosome 10: 102,503,972–102,633,535 (GRCh38)
Exons
12 exons across 129.6 kb
Protein
484 amino acids
Inheritance
Autosomal dominant
Also known as
SUFUH, SUFUXL, PRO1280
MANE Select transcript
ENST00000369902.8NM_016169.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Joubert Syndrome And Related Disorders

    • Joubert Syndrome

      A ciliopathy defined by a malformation of the cerebellum and brainstem (the molar tooth sign), with low muscle tone, developmental delay and abnormal eye movements, sometimes with kidney, liver or eye involvement.

      • 3 GenCC submitters rate it definitive or strong

  • Medulloblastoma

    • Autosomal dominant
      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong

  • Nevoid Basal Cell Carcinoma (Gorlin) Syndrome

    • Nevoid basal cell carcinoma syndromeAutosomal dominant

      PTCH1- or SUFU-related syndrome with multiple basal cell carcinomas, odontogenic keratocysts of the jaw, skeletal changes and risk of medulloblastoma.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Regular skin, dental and (in young children) neurological checks, sun protection, and avoiding radiotherapy where possible.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How SUFU is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 10, with a bracket where SUFU sits. SUFU and 22 genes near it on chromosome 10, from 102,068,754 to 103,068,753.Chromosome 1010q24.32p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.3102.2 Mb102.4 Mb102.6 Mb102.8 Mb103 MbLDB1: 102,106,489–102,120,451, reverse strandLDB1PPRC1: 102,132,994–102,150,333, forward strandPPRC1NOLC1: 102,152,170–102,163,875, forward strandNOLC1ELOVL3: 102,226,294–102,229,589, forward strandELOVL3PITX3: 102,229,754–102,241,512, reverse strandPITX3GBF1: 102,245,371–102,382,899, forward strandGBF1NFKB2: 102,394,110–102,402,529, forward strandPSD: 102,402,614–102,421,539, reverse strandPSDFBXL15: 102,408,835–102,423,142, forward strandFBXL15CUEDC2: 102,423,239–102,432,718, reverse strandCUEDC2C10orf95: 102,449,619–102,451,548, reverse strandC10orf95SLC68A1: 102,461,363–102,477,046, forward strandSLC68A1ACTR1A: 102,461,881–102,502,744, reverse strandACTR1ASUFU: 102,503,972–102,633,535, forward strandSUFUTRIM8: 102,642,394–102,662,789, forward strandTRIM8ARL3: 102,673,731–102,714,527, reverse strandARL3SFXN2: 102,714,476–102,743,492, forward strandSFXN2WBP1L: 102,743,923–102,834,613, forward strandWBP1LCYP17A1: 102,830,460–102,837,506, reverse strandCYP17A1BORCS7: 102,854,224–102,864,979, forward strandBORCS7BORCS7-ASMT: 102,854,272–102,901,899, forward strandBORCS7-ASMTAS3MT: 102,869,296–102,901,911, forward strandAS3MTCNNM2: 102,918,123–103,090,222, forward strandCNNM2Diagram of SUFU: 12 exons on the forward strand of chromosome 10Exon 1: 21 known disease-causing sitesExon 2: 4 known disease-causing sitesExon 3: 5 known disease-causing sitesExon 4: 6 known disease-causing sitesExon 5: 4 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 7: 15 known disease-causing sitesExon 8: 7 known disease-causing sitesExon 9: 7 known disease-causing sitesExon 10: 9 known disease-causing sitesExon 11: 2 known disease-causing sitesExon 1: 102,503,972–102,504,334, 363 basesExon 2: 102,509,169–102,509,303, 135 basesExon 3: 102,549,970–102,550,106, 137 basesExon 4: 102,592,582–102,592,724, 143 basesExon 5: 102,593,636–102,593,721, 86 basesExon 6: 102,593,993–102,594,065, 73 basesExon 7: 102,597,140–102,597,293, 154 basesExon 8: 102,599,433–102,599,544, 112 basesExon 9: 102,615,268–102,615,402, 135 basesExon 10: 102,617,290–102,617,428, 139 basesExon 11: 102,627,175–102,627,243, 69 basesExon 12: 102,630,066–102,633,535, 3,470 bases1510125′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 5 kb of the gene's 129.6 kb; 1,455 of those bases code for the protein.

How a genome test reads SUFU

106

positions in SUFU where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 129.6 kb of SUFU, introns included, not only the 5 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). SUFU gene: SUFU negative regulator of hedgehog signaling. Retrieved 17 October 2026, from https://dantelabs.com/genes/sufu

Vancouver

Dante Labs. SUFU gene: SUFU negative regulator of hedgehog signaling [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sufu

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