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Sufu Gene Detail
Summary
  • Symbol
    Sufu
  • Name
    suppressor of fused homolog (Drosophila)
  • Synonyms
    2810026F04Rik, b2b273Clo, Su(Fu)
  • Feature Type
    protein coding gene
  • IDs
    MGI:1345643
    NCBI Gene: 24069
  • Gene Overview
    MyGene.info: SUFU
Location & Maps
more
  • Sequence Map
    Chr19:46396896-46488804 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      91909 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 38.85 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    SUFU, SUFU negative regulator of hedgehog signaling
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SUFU, SUFU negative regulator of hedgehog signaling
    Orthology source: HGNC, HomoloGene
  • Synonyms
    PRO1280, SUFUH, SUFUXL
  • Links
    NCBI Gene ID: 51684
    neXtProt AC: NX_Q9UMX1

  • Chr Location
    10q24.32; chr10:102502874-102633457 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Sufu mouse models; 3 with human SUFU associations

Human Disease Mouse Models
       Basal Cell Nevus Syndrome; BCNS   OMIM: 109400 View 1 model
       Medulloblastoma; MDB   OMIM: 155255 View 1 model
Meningioma, Familial, Susceptibility to   OMIM: 607174
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    65 phenotypes from 9 alleles in 9 genetic backgrounds
    5 phenotypes from multigenic genotypes
    15 images
    34 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    36
  • Chemically induced (ENU)
    3
  • Gene trapped
    25
  • Targeted
    8
  • Incidental Mutations
Targeted disruption results in mid-gestation lethality, embryonic growth retardation, incomplete embryo turning, open neural tube, abnormal somite development, left-right asymmetry defects resulting in cardiac looping, and hemorrhage in the diencephalon.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000030508 VEGA Gene Model | MGI Sequence Detail 91909 C57BL/6J ±  kb
transcript OTTMUST00000075542 VEGA | MGI Sequence Detail 1747 Not Applicable  
polypeptide OTTMUSP00000039623 VEGA | MGI Sequence Detail 485 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    564 from dbSNP Build 142
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000003324 suppressor of fused homolog
  • InterPro Domains
    IPR007768 Suppressor of fused
    IPR024314 Suppressor of fused C-terminal
    IPR016591 Suppressor of fused, eukaryotic
    IPR020941 Suppressor of fused-like domain
Molecular
Reagents
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  • All nucleic 17
    cDNA 16
    Primer pair 1

    Microarray probesets 6
Other
Accession IDs
less
MGI:1919902, MGI:5313707
References
more
  • Summaries
    All 84
    Developmental Gene Expression 24
    Diseases 2
    Gene Ontology 22
    Phenotypes 34
  • Earliest
    J:56940 Pearse RV 2nd, et al., Vertebrate homologs of Drosophila suppressor of fused interact with the gli family of transcriptional regulators. Dev Biol. 1999 Aug 15;212(2):323-36
  • Latest
    J:228335 Makino S, et al., T396I mutation of mouse Sufu reduces the stability and activity of Gli3 repressor. PLoS One. 2015;10(3):e0119455

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory