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Sufu Gene Detail
Summary
  • Symbol
    Sufu
  • Name
    SUFU negative regulator of hedgehog signaling
  • Synonyms
    2810026F04Rik, b2b273Clo, Su(Fu)
  • Feature Type
    protein coding gene
  • IDs
    MGI:1345643
    NCBI Gene: 24069
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:46385335-46477243 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 38.85 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    564 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1345643
 protein coding gene Chr19:46385335-46477243 (+)
129S1/SvImJ MGP_129S1SvImJ_G0025209
 protein coding gene Chr19:46085294-46183195 (+)
A/J MGP_AJ_G0025185
 protein coding gene Chr19:43815646-43907251 (+)
AKR/J MGP_AKRJ_G0025154
 protein coding gene Chr19:45236635-45328978 (+)
BALB/cJ MGP_BALBcJ_G0025180
 protein coding gene Chr19:43872029-43965385 (+)
C3H/HeJ MGP_C3HHeJ_G0024940
 protein coding gene Chr19:45403150-45501930 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025623
 protein coding gene Chr19:47231791-47327294 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023037
 protein coding gene Chr19:43052985-43144384 (+)
CAST/EiJ MGP_CASTEiJ_G0024405
 protein coding gene Chr19:45204378-45306542 (+)
CBA/J MGP_CBAJ_G0024920
 protein coding gene Chr19:49593593-49704969 (+)
DBA/2J MGP_DBA2J_G0025052
 protein coding gene Chr19:43636241-43728370 (+)
FVB/NJ MGP_FVBNJ_G0025013
 protein coding gene Chr19:43417963-43512874 (+)
LP/J MGP_LPJ_G0025138
 protein coding gene Chr19:45993112-46090751 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025044
 protein coding gene Chr19:48937206-49040369 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025681
 protein coding gene Chr19:45343994-45442135 (+)
PWK/PhJ MGP_PWKPhJ_G0024154
 protein coding gene Chr19:43584723-43680724 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023958
 protein coding gene Chr19:43998525-44094077 (+)
WSB/EiJ MGP_WSBEiJ_G0024475
 protein coding gene Chr19:45486396-45590196 (+)



Homology
more
  • Human Ortholog
    SUFU, SUFU negative regulator of hedgehog signaling
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SUFU, SUFU negative regulator of hedgehog signaling
  • Synonyms
    BCNS2, JBTS32, PRO1280, SUFUH, SUFUXL
  • Links
    NCBI Gene ID: 51684
    neXtProt AC: NX_Q9UMX1
    UniProt: Q9UMX1

  • Chr Location
    10q24.32; chr10:102502819-102633535 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Sufu mouse models; 4 with human SUFU associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
 View 1 model
IDs
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
less
  • Phenotype Summary
    69 phenotypes from 9 alleles in 9 genetic backgrounds
    5 phenotypes from multigenic genotypes
    15 images
    58 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.
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
less
  • All GO Annotations
    60
  • GO References
    25
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    918
  • Tissues
    132
  • cDNA Data
    19
  • Literature Summary
    39
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 24069 NCBI Gene Model | MGI Sequence Detail 91909 C57BL/6J ±  kb
    transcript NM_015752 RefSeq | MGI Sequence Detail 4525 ZRU/MplStud  
    polypeptide Q9Z0P7 UniProt | EBI | MGI Sequence Detail 484 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 29
      cDNA 21
      Primer pair 5
      Other 3

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1919902, MGI:5313707
    References
    more
    • Summaries
      All 123
      Developmental Gene Expression 39
      Diseases 2
      Gene Ontology 25
      Phenotypes 58
    • 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:346579 Han B, et al., Increasing Sufu gene dosage reveals its unorthodox role in promoting polydactyly and medulloblastoma tumorigenesis. JCI Insight. 2024 Feb 15;9(6)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory