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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SUFU Gene

protein-coding   GIFtS: 57
GCID: GC10P104253

suppressor of fused homolog (Drosophila)
 Explore 12 diseases affiliated with
SUFU via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SUFU    

Aliases
for SUFU gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Suppressor Of Fused Homolog (Drosophila)1 2
SUFUH1 2 3 5
SUFUXL1 2 5
PRO12801 2
Suppressor Of Fused Homolog2

External Ids:    HGNC: 164661   Entrez Gene: 516842   Ensembl: ENSG000001078827   OMIM: 6070355   UniProtKB: Q9UMX13   

Export aliases for SUFU gene to outside databases

Previous GC identifers: GC10P103156 GC10P103497 GC10P104394 GC10P103928 GC10P097897


Summaries
for SUFU gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SUFU:
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)

UniProtKB/Swiss-Prot: SUFU_HUMAN, Q9UMX1
Function: Negative regulator in the hedgehog signaling pathway. Down-regulates GLI1-mediated transactivation of target
genes. Part of a corepressor complex that acts on DNA-bound GLI1. May also act by linking GLI1 to BTRC and thereby
targeting GLI1 to degradation by the proteasome. Sequesters GLI1, GLI2 and GLI3 in the cytoplasm, this effect is
overcome by binding of STK36 to both SUFU and a GLI protein. Negative regulator of beta-catenin signaling. Regulates
the formation of either the repressor form (GLI3R) or the activator form (GLI3A) of the full length form of GLI3
(GLI3FL). GLI3FL is complexed with SUFU in the cytoplasm and is maintained in a neutral state. Without the Hh signal,
the SUFU-GLI3 complex is recruited to cilia, leading to the efficient processing of GLI3FL into GLI3R. When Hh
signaling is initiated, SUFU dissociates from GLI3FL and the latter translocates to the nucleus, where it is
phosphorylated, destabilized, and converted to a transcriptional activator (GLI3A)

Gene Wiki entry for SUFU


Genomic Views
for SUFU gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SUFU gene promoter:
         E2F-4   E2F-3a   E2F-5   SREBP-1c   E2F-2   Egr-2   AREB6   RORalpha1   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SUFU promoter sequence
   Search SABiosciences Chromatin IP Primers for SUFU

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SUFU


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q24.32   Ensembl cytogenetic band:  10q24.32   HGNC cytogenetic band: 10q24.32

SUFU Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SUFU gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P104253:  view genomic region     (about GC identifiers)

Start:
 104,263,719 bp from pter      End:
 104,393,292 bp from pter
Size:
 129,574 bases      Orientation:
 plus strand

Proteins
for SUFU gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: SUFU_HUMAN, Q9UMX1 (See protein sequence)
Recommended Name: Suppressor of fused homolog  
Size: 484 amino acids; 53947 Da
Subunit: May form homodimers. Part of a DNA-bound corepressor complex containing SAP18, GLI1 and SIN3. Part of a
complex containing CTNNB1. Binds BTRC, GLI2, GLI3, SAP18 and STK36. Binds both free and DNA-bound GLI1. Interacts with
KIF7. Interacts with GLI3FL and this interaction regulates the formation of either repressor or activator forms of
GLI3. Its association with GLI3FL is regulated by Hh signaling and dissociation of the SUFU-GLI3 interaction requires
the presence of the ciliary motor KIF3A (By similarity). Interacts with ULK3; inactivating the protein kinase activity
of ULK3. Interacts with RAB23
Subcellular location: Cytoplasm. Nucleus
1 PDB 3D structure from and Proteopedia for SUFU:
1M1L (3D)    
Secondary accessions: Q7LCP7 Q9NT90 Q9NZ07 Q9UHK2 Q9UHM8 Q9UMY0
Alternative splicing: 3 isoforms:  Q9UMX1-1   Q9UMX1-2   Q9UMX1-3   (Major isoform)

Explore the universe of human proteins at neXtProt for SUFU: NX_Q9UMX1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UMX1

    • SUFU Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001171604.1  NP_057253.2  

    ENSEMBL proteins: 
     ENSP00000358918   ENSP00000358915   ENSP00000411597  

    Human Recombinant Protein Products: 
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    Novus Biologicals SUFU Proteins
    Novus Biologicals SUFU Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for SUFU
    Uscn Proteins for SUFU

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm NAS10564661
    GO:0005929cilium IEA--


    SUFU for ontologies           About GeneDecksing



    SUFU Antibody Products: 
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    Abcam antibodies for SUFU 
    Uscn Antibodies for SUFU
    ThermoFisher Antibodies for SUFU

    Assay Products for SUFU: 
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    Uscn ELISAs and CLIAs for SUFU

    Protein Domains /
    Families
    for SUFU gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SUFU for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR016591 Suppressor_of_fused_protein
     IPR020941 SUFU_domain
     IPR024314 SUFU_C
     IPR007768 SUFU-like

    Graphical View of Domain Structure for InterPro Entry Q9UMX1

    ProtoNet protein and cluster: Q9UMX1

    UniProtKB/Swiss-Prot: SUFU_HUMAN, Q9UMX1
    Similarity: Belongs to the SUFU family


    Function
    for SUFU gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: SUFU_HUMAN, Q9UMX1
    Function: Negative regulator in the hedgehog signaling pathway. Down-regulates GLI1-mediated transactivation of target
    genes. Part of a corepressor complex that acts on DNA-bound GLI1. May also act by linking GLI1 to BTRC and thereby
    targeting GLI1 to degradation by the proteasome. Sequesters GLI1, GLI2 and GLI3 in the cytoplasm, this effect is
    overcome by binding of STK36 to both SUFU and a GLI protein. Negative regulator of beta-catenin signaling. Regulates
    the formation of either the repressor form (GLI3R) or the activator form (GLI3A) of the full length form of GLI3
    (GLI3FL). GLI3FL is complexed with SUFU in the cytoplasm and is maintained in a neutral state. Without the Hh signal,
    the SUFU-GLI3 complex is recruited to cilia, leading to the efficient processing of GLI3FL into GLI3R. When Hh
    signaling is initiated, SUFU dissociates from GLI3FL and the latter translocates to the nucleus, where it is
    phosphorylated, destabilized, and converted to a transcriptional activator (GLI3A)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SUFU
    8/67 QIAGEN miScript miRNA Assays for microRNAs that regulate SUFU (see all 67):
    hsa-miR-4254 hsa-miR-1321 hsa-miR-1914* hsa-miR-1224-3p hsa-miR-1260b hsa-miR-3916 hsa-miR-4325 hsa-miR-376a*
    SwitchGear 3'UTR luciferase reporter plasmid: SUFU 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SUFU (see all 7)
    OriGene shRNA RFP: SUFU
    OriGene siRNA: SUFU
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SUFU

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SUFU

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SUFU (see all 5)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SUFU 

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    Search LifeMap BioReagents cell lines for SUFU

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SUFU

    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003714transcription corepressor activity TAS10564661
    GO:0004871signal transducer activity TAS10564661
    GO:0005515protein binding IPI10564661
    GO:0008013beta-catenin binding IEA--
    GO:0008134transcription factor binding IDA10564661


    SUFU for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for SUFU: Sufutm1Aeb Sufutm1Rto
         12 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Sufu):
     adipose tissue  cardiovascular system  embryogenesis  growth/size  homeostasis/metabolism 
     integument  mortality/aging  nervous system  no phenotypic analysis  normal 
     pigmentation  tumorigenesis 

    SUFU for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SUFU gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Hedgehog Signaling Pathway
    		Hedgehog Signaling Pathway1.00
    		Hedgehog Pathway0.32
    2Basal cell carcinoma
    		Basal cell carcinoma1.00
    		Hedgehog signaling pathway0.41
    3Wnt / Hedgehog / Notch
    		Wnt / Hedgehog / Notch1.00
    4Hedgehog signaling events mediated by Gli proteins
    		Hedgehog signaling events mediated by Gli proteins1.00
    5Pathways in cancer
    		Pathways in cancer1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SUFU
        Activation of PKA through GPCR
    Molecular Mechanisms of Cancer
    Hedgehog Signaling in Mammals

    1 Cell Signaling Technology (CST) Pathway for SUFU
        Wnt / Hedgehog / Notch

    1 Tocris Bioscience Pathway for SUFU
        Hedgehog Pathway

    2 BioSystems Pathways for SUFU 
        Hedgehog Signaling Pathway
    Hedgehog signaling events mediated by Gli proteins


    3         Kegg Pathways  (Kegg details for SUFU):
        Hedgehog signaling pathway
    Pathways in cancer
    Basal cell carcinoma


    SUFU for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SUFU

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/72 Interacting proteins for SUFU (Q9UMX11, 2, 3 ENSP000003589184) via UniProtKB, MINT, STRING, and/or I2D (see all 72)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MID1IP1Q9NPA32, 3, ENSP000003387064MINT-67700 I2D: score=5 STRING: ENSP00000338706
    GLI1P081511, 3, ENSP000002286824EBI-740595,EBI-308084 I2D: score=3 STRING: ENSP00000228682
    STK36Q9NRP71, 3, ENSP000002957094EBI-740595,EBI-863797 I2D: score=2 STRING: ENSP00000295709
    RCN3Q96D151, 2, 3, ENSP000002706454EBI-740595,EBI-746283 MINT-67210 I2D: score=6 STRING: ENSP00000270645
    CALM1P621583I2D: score=1 
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA10564661
    GO:0001501skeletal system development TAS10559945
    GO:0001843neural tube closure IEA--
    GO:0001947heart looping IEA--
    GO:0006355regulation of transcription, DNA-dependent TAS10564661


    SUFU for ontologies           About GeneDecksing



    Drugs & Compounds
    for SUFU gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SUFU
    Search CenterWatch for drugs/clinical trials and news about SUFU 

    Transcripts
    for SUFU gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SUFU gene (2 alternative transcripts): 
    NM_001178133.1  NM_016169.3  

    Unigene Cluster for SUFU:

    Suppressor of fused homolog (Drosophila)
    Hs.404089  [show with all ESTs]
    Unigene Representative Sequence: NM_016169
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369902(uc001kvy.2 uc009xxe.2 uc009xxf.2) ENST00000369899(uc001kvx.3)
    ENST00000423559(uc001kvw.2) ENST00000471000

    miRNA
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    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SUFU
    8/67 QIAGEN miScript miRNA Assays for microRNAs that regulate SUFU (see all 67):
    hsa-miR-4254 hsa-miR-1321 hsa-miR-1914* hsa-miR-1224-3p hsa-miR-1260b hsa-miR-3916 hsa-miR-4325 hsa-miR-376a*
    SwitchGear 3'UTR luciferase reporter plasmid: SUFU 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SUFU (see all 7)
    OriGene shRNA RFP: SUFU
    OriGene siRNA: SUFU
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SUFU
    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SUFU
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SUFU

    Additional cDNA sequence: 

    AF144231.1 AF159447.1 AF172319.1 AF175770.1 AF222345.1 AK307370.1 AK311503.1 AK312319.1 
    AL137465.1 AY358550.1 BC013291.2 

    7 DOTS entries:

    DT.452595  DT.95275796  DT.40224712  DT.121287368  DT.121287371  DT.97812676  DT.95114414 

    24/125 AceView cDNA sequences (see all 125):

    BM542659 AW016570 BU677680 AF172319 AL137465 CF145567 AW589972 BU161970 
    AI952084 AI431463 AY358550 BP345300 BC013291 AI871667 AI765745 AI766418 
    AI218084 BI061515 BQ437048 AI199315 BM545981 AW593833 AF144231 AF159447 

    GeneLoc Exon Structure


    Expression
    for SUFU gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SUFU expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SUFU expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeNeuroblastic LayerEarly Retinal Progenitor CellsRetina
    EyeNeuroblastic LayerLate Retinal Progenitor CellsRetina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SUFU Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SUFU

    SOURCE GeneReport for Unigene cluster: Hs.404089

    UniProtKB/Swiss-Prot: SUFU_HUMAN, Q9UMX1
    Tissue specificity: Ubiquitous in adult tissues. Detected in osteoblasts of the perichondrium in the developing limb of
    12-week old embryos. Isoform 1 is detected in fetal brain, lung, kidney and testis. Isoform 2 is detected in fetal
    testis, and at much lower levels in fetal brain, lung and kidney

        SABiosciences Expression via Pathway-Focused PCR Arrays including SUFU: 
              Hedgehog Signaling Pathway in human mouse rat
              Primary Cilia in human mouse rat
              Stem Cell Signaling in human mouse rat
              Notch Signaling Pathway in human mouse rat

    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
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    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SUFU
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SUFU
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SUFU

    Orthologs
    for SUFU gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for SUFU gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Sufu1 , 5 suppressor of fused homolog (Drosophila)1, 5 91.12(n)1
    97.73(a)1    		   19 (38.85 cM)5
    240691  NM_015752.21  NP_056567.21 
     463968965 
    chicken
    (Gallus gallus)    		 Aves SUFU1 suppressor of fused homolog (Drosophila) 80.99(n)
    91.53(a)    		   374118  NM_204264.1  NP_989595.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SUFU6
    		 --
    		 83(a)
    		 1 ↔ 1
    		 3(39671111-39768598)
    African clawed frog
    (Xenopus laevis)    		 Amphibia 480435022   -- 80.43(n)    48043502 
    zebrafish
    (Danio rerio)    		 Actinopterygii sufu2 suppressor of fused homolog (Drosophila) 77.25(n)   334291  BC045348.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Su(fu)1 , 3 smoothened receptor signaling pathway3
    Suppressor of fused1    		 37(a)3
    51.58(n)1
    40.76(a)1    		   3 87C53
    415651  NM_080502.41  NP_536750.21 


    ENSEMBL Gene Tree for SUFU (if available)
    TreeFam Gene Tree for SUFU (if available) 

    Paralogs
    for SUFU gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for SUFU gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1884 NCBI SNPs in SUFU are shown (see all 1884)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1387844971,2
    		C,non-pathogenic104269119(+) GAGCAG/AGGGTG 2 -- int11Minor allele frequency- A:0.00EU 1319
    rs2022477571,2
    		Cnon-pathogenic104357064(+) CATCAC/TTCAGC 2 -- int10--------
    rs38247561,2
    		C,F,A,H,non-pathogenic104359350(-) CCTTCA/GGAAAA 2 -- int122Minor allele frequency- G:0.25NA NS EA CSA WA 2488
    rs2022477581,2
    		Cnon-pathogenic104374997(+) TGTGCC/TGAACC 2 -- int10--------
    rs777568881,2
    		--104264676(+) TCGTAT/GCAGGG 2 -- int11Minor allele frequency- G:0.01WA 118
    rs1464280951,2
    		--104264714(+) GAGCAA/GCTCTT 2 -- int10--------
    rs1908254551,2
    		--104264763(+) CTCCGA/TGCAGA 2 -- int10--------
    rs1482900711,2
    		--104264882(+) AAATGA/GTGGAG 2 -- int10--------
    rs1830232601,2
    		--104264935(+) AAGAGA/GAGCTT 2 -- int10--------
    rs1414063331,2
    		C,--104265041(+) GCAGCC/TTGTTT 2 -- int10--------

    HapMap Linkage Disequilibrium report for SUFU (104263719 - 104393292 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SUFU: --
    Human Gene Mutation Database (HGMD): SUFU

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SUFU
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    Disorders / Diseases
    for SUFU gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SUFU for disorders           About GeneDecksing

    OMIM gene information: 607035   
    OMIM disorders: 155255  
    UniProtKB/Swiss-Prot: SUFU_HUMAN, Q9UMX1
  • Defects in SUFU are a cause of medulloblastoma (MDB) [MIM:155255]. MDB is a malignant, invasive embryonal
    • tumor of the cerebellum with a preferential manifestation in children. Defects in SUFU play a role in predisposition
    to desmoplastic MDB. These tumors make up about 20 to 30% of medulloblastomas, have a more nodular architecture than
    'classical' medulloblastoma, and may have a better prognosis

    12 diseases for SUFU:    About MalaCards
    medulloblastoma    nevoid basal cell carcinoma syndrome    basal cell carcinoma    rhabdomyosarcoma
    esophageal cancer    alzheimer's disease    esophagitis    pancreatic cancer
    colorectal cancer    carcinoma    pancreatitis    desmoplastic medulloblastoma

    3 diseases from the University of Copenhagen DISEASES database for SUFU:
    Medulloblastoma     Nevoid basal cell carcinoma syndrome     Basal cell carcinoma

    6 Novoseek disease relationships for SUFU gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    medulloblastoma 73.6 3 17102621 (2)
    allelic loss 52.6 1 17102621 (1)
    somatic mutations 43.2 3 15488029 (1), 15656799 (1)
    carcinoma basal cell 42.8 1 15656799 (1)
    cancer 17.8 1 17102621 (1)
    tumors 0 1 17102621 (1)

    Human Genome Epidemiology (HuGE) Navigator: SUFU (2 documents)

    Export disorders for SUFU gene to outside databases

    Publications
    for SUFU gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SUFU gene, integrated from 9 sources (see all 64):
    (articles sorted by number of sources associating them with SUFU)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Suppressor of fused regulates Gli activity through a dual binding mechanism. (PubMed id 15367681)1, 2, 3, 9 Merchant M.... de Sauvage F.J. (2004)
    2. Rab23 negatively regulates Gli1 transcriptional factor in a Su(Fu)-dependent manner. (PubMed id 22365972)1, 2 Chi S....Xie J. (2012)
    3. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    6. Mutations in SUFU predispose to medulloblastoma. (PubMed id 12068298)1, 2 Taylor M.D.... Hogg D. (2002)
    7. Gli regulation by the opposing activities of fused and suppressor of fused. (PubMed id 10806483)1, 2 Murone M.... de Sauvage F.J. (2000)
    8. Characterization of the human suppressor of fused, a negative regulator of the zinc-finger transcription factor Gli. (PubMed id 10564661)1, 2 Stone D.M.... Rosenthal A. (1999)
    9. Suppressor of fused gene involved in hedgehog signal transduction in Drosophila melanogaster is conserved in mammals. (PubMed id 11252182)1, 2 Delattre M.... Blanchet-Tournier M.-F. (1999)
    10. Mammalian suppressor-of-fused modulates nuclear-cytoplasmic shuttling of Gli-1. (PubMed id 10559945)1, 2 Kogerman P.... Zaphiropoulos P.G. (1999)

    External Searches for SUFU gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SUFU gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51684 HGNC: 16466 AceView: SUFU Ensembl:ENSG00000107882 euGenes: HUgn51684
    ECgene: SUFU Kegg: 51684 H-InvDB: SUFU

    Other Databases showing SUFU gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SUFU gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SUFU Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SUFU Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for SUFU gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SUFU gene:
    Search GeneIP for patents involving SUFU

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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