SUFU

Chr 10

SUFU negative regulator of hedgehog signaling

Also known as: BCNS2, JBTS32, PRO1280, SUFUH, SUFUXL

NCBI Gene: 51684 ENSG00000107882 UniProt: Q9UMX1

The protein functions as a negative regulator of the Hedgehog signaling pathway, which controls pattern formation and cellular proliferation during development. Loss-of-function mutations cause autosomal dominant basal cell nevus syndrome 2 and medulloblastoma susceptibility, autosomal recessive Joubert syndrome 32, and somatic mutations contribute to sporadic medulloepitheliomas and meningiomas. The gene is highly intolerant to loss-of-function variation, reflecting its critical role in developmental regulation.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMedulloblastoma

UniProtJoubert syndrome 32

UniProtBasal cell nevus syndrome 2

Clinical highlights

Gene-disease validity (ClinGen)

medulloblastoma · ADDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

111

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.11

LOEUF· LoF intol.

LOF

Mechanism· G2P

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