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SUFU (Suppressor of fused homolog) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Skin cancer, Lung cancer, Medulloblastoma and 3 more.
Negative regulator in the hedgehog/smoothened signalling pathway that acts by sequestering the GLI (GI1, GLI2 and GLI3) transcription factors in the cytoplasm. When smoothened signalling is initiated, GLI transcription factors dissociate from SUFU, translocate to the nucleus and activate expression of target genes. In absence of smoothened signalling, the SUFU-GLI3 complex is recruited to cilia, leading to the efficient processing of full-length GLI3 into transcription repressor GLI3R: SUFU participates to GLI3 processing by promoting recruitment of GSK3B to GLI3.
CIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Sonidegib. Open Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes literature 0.92, animal model 0.54, genetic association 0.34, somatic mutation 0.88). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Pilocytic Astrocytoma.
In plain words · SUFU (Suppressor of fused homolog) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Skin cancer, Lung cancer, Medulloblastoma and 3 more.
SUFU (Suppressor of fused homolog) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Skin cancer, Lung cancer, Medulloblastoma and 3 more.
Negative regulator in the hedgehog/smoothened signalling pathway that acts by sequestering the GLI (GI1, GLI2 and GLI3) transcription factors in the cytoplasm.
No product in this corpus aims at SUFU yet. Because the protein is lost rather than overactive, drugs either restore its function or exploit the weakness its loss leaves (synthetic lethality).
Germline variant: UniProt lists Basal cell nevus syndrome 2 (BCNS2) under involvement in disease, and the record is a tumour suppressor; the medicines linked to it act through the loss (synthetic lethality) or use the variant to pick patients. HPA SUFU: RNA low tissue specificity; high antibody staining in 11 normal tissues; highest cancer staining glioma (2 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Lung cancer (all types), Brain and spinal cord tumours (all types)); Open Targets associates it with 4 specific cancer types at or above 0.5 (medulloblastoma, nevoid basal cell carcinoma syndrome, familial meningioma, hereditary neoplastic syndrome). (Rule 2 of scripts/fetch-target-specificity.ts.)
Sources: UniProt Q9UMX1; Human Protein Atlas SUFU tissue; Open Targets ENSG00000107882 associations
First described 1999. Earliest sequence paper UniProt cites for the protein: Stone D.M. et al, J. Cell Sci, 1999, "Characterization of the human suppressor of fused, a negative regulator of the zinc-finger transcription factor Gli". Source.
Sources: HGNC HGNC:16466 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q9UMX1 (protein name, function text, keywords and locations (REST API)); CIViC gene SUFU (1 evidence items, 0 assertions, 1 variants; diseases: Medulloblastoma (GraphQL API, CC0)); Open Targets ENSG00000107882 (association with cancer (MONDO_0004992) 0.71; per-cancer scores at or above 0.5: melanoma 0.54, skin cancer 0.57, medulloblastoma 0.80, lung cancer 0.51, meningioma 0.72 (GraphQL API, CC0)); IntOGen SUFU (driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Negative regulator in the hedgehog/smoothened signalling pathway that acts by sequestering the GLI (GI1, GLI2 and GLI3) transcription factors in the cytoplasm. When smoothened signalling is initiated, GLI transcription factors dissociate from SUFU, translocate to the nucleus and activate expression of target genes. In absence of smoothened signalling, the SUFU-GLI3 complex is recruited to cilia, leading to the efficient processing of full-length GLI3 into transcription repressor GLI3R: SUFU participates to GLI3 processing by promoting recruitment of GSK3B to GLI3. May also act as a negative regulator of beta-catenin signalling. Required for normal embryonic development. Required for the proper formation of hair follicles and the control of epidermal differentiation. Location: Cytoplasm; Nucleus; Cell projection, cilium (UniProt). Locus 10q24.32 (HGNC).
RNA: low tissue specificity, detected in all normal tissues.
Medium: Adipose tissue, Appendix, Bronchus, Caudate, Colon, Duodenum, Endometrium, Epididymis.
Medium only: breast cancer, carcinoid, cervical cancer, colorectal cancer.
Human Protein Atlas version 25.1, antibody staining at reliability approved, enhanced or supported; used under CC BY-SA 3.0. Staining counts are patients per level in the atlas cohort, not population prevalence.
Query for this target: (TITLE:"SUFU" OR ABSTRACT:"SUFU" OR TITLE:"SUFU negative regulator of hedgehog signaling" OR ABSTRACT:"SUFU negative regulator of hedgehog signaling" OR TITLE:"Suppressor of fused homolog" OR ABSTRACT:"Suppressor of fused homolog" OR TITLE:"SUFUH" OR ABSTRACT:"SUFUH" OR TITLE:"SUFUXL" OR ABSTRACT:"SUFUXL" OR TITLE:"PRO1280" OR ABSTRACT:"PRO1280") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about SUFU, not a curated reading list.
Shares Medulloblastoma, Skin cancer (all types), IntOGen, Melanoma.
Shares Medulloblastoma, Skin cancer (all types), CIViC, IntOGen.
Shares Paediatric low-grade glioma, Medulloblastoma, CIViC, IntOGen.
Shares Medulloblastoma, Skin cancer (all types), IntOGen, Lung cancer (all types).
Shares Basal cell carcinoma (KEGG map), Hedgehog signalling, IntOGen.
Shares Medulloblastoma, Skin cancer (all types), IntOGen, Melanoma.
Shares Paediatric low-grade glioma, Skin cancer (all types), CIViC, Melanoma.
Shares Paediatric low-grade glioma, Skin cancer (all types), IntOGen, Melanoma.