About   Help   FAQ
Sp7 Gene Detail
Summary
  • Symbol
    Sp7
  • Name
    Sp7 transcription factor 7
  • Synonyms
    6430578P22Rik, osterix, Osx
  • Feature Type
    protein coding gene
  • IDs
    MGI:2153568
    NCBI Gene: 170574
  • Gene Overview
    MyGene.info: SP7
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr15:102356606-102367040 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      10435 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 57.51 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    SP7, Sp7 transcription factor
  • Vertebrate Orthologs
    9
  • Human Ortholog
    SP7, Sp7 transcription factor
    Orthology source: HomoloGene, HGNC
  • Synonyms
    OI11, OI12, osterix, OSX
  • Links
    NCBI Gene ID: 121340
    neXtProt AC: NX_Q8TDD2
    UniProt: Q8TDD2

  • Chr Location
    12q13.13; chr12:53326575-53344793 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 15607
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: SP7
  • Gene Tree
    Sp7
Human Diseases
more
  • Diseases
    1 with human SP7 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    18 phenotypes from 5 alleles in 7 genetic backgrounds
    4 images
    51 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.
Mice homozygous for a reporter allele die within minutes of birth displaying cyanosis, respiratory distress, arrested osteoblast differentiation, and failure of endochondral and intramembranous bone formation. Mice homozygous for a knock-out allele exhibit failure of bone ossification.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 170574 NCBI Gene Model | MGI Sequence Detail 10435 C57BL/6J ±  kb
    transcript NM_001348205 RefSeq | MGI Sequence Detail 3051 C57BL/6  
    polypeptide Q8VI67 UniProt | EBI | MGI Sequence Detail 428 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      45 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 25
      Genomic 1
      cDNA 15
      Primer pair 2
      Other 7

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:2159409, MGI:2443070
    References
    more
    • Summaries
      All 229
      Developmental Gene Expression 123
      Diseases 1
      Gene Ontology 10
      Phenotypes 51
    • Earliest
      J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
    • Latest
      J:256083 Yang T, et al., Pten regulates neural crest proliferation and differentiation during mouse craniofacial development. Dev Dyn. 2018 Feb;247(2):304-314

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    06/12/2018
    MGI 6.12
    The Jackson Laboratory