SUFU SUFU negative regulator of hedgehog signaling
Gene ID: 51684, updated on 3-Apr-2024Gene type: protein coding
Also known as: BCNS2; SUFUH; JBTS32; SUFUXL; PRO1280
- See all available tests in GTR for this gene
- Go to complete Gene record for SUFU
- Go to Variation Viewer for SUFU variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Basal cell nevus syndrome 2 | not available |
| Familial meningioma | See labs |
| Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. GeneReviews: Not available | |
| Joubert syndrome 32 | See labs |
| Medulloblastoma | See labs |
Genomic context
- Location:
- 10q24.32
- Sequence:
- Chromosome: 10; NC_000010.11 (102502819..102633535)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SUFU variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SUFU database
- Variation ViewerRelated Variants
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