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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
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:102265038-102275498 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 57.51 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    196 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2153568
 protein coding gene Chr15:102265038-102275617 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022411
 protein coding gene Chr15:104530802-104540521 (-)
A/J MGP_AJ_G0022373
 protein coding gene Chr15:100416883-100426434 (-)
AKR/J MGP_AKRJ_G0022348
 protein coding gene Chr15:103460232-103470025 (-)
BALB/cJ MGP_BALBcJ_G0022377
 protein coding gene Chr15:100463046-100472745 (-)
C3H/HeJ MGP_C3HHeJ_G0022144
 protein coding gene Chr15:103532817-103543171 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022826
 protein coding gene Chr15:108404352-108413936 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020349
 protein coding gene Chr15:96190697-96201005 (-)
CAST/EiJ MGP_CASTEiJ_G0021670
 protein coding gene Chr15:104408882-104418483 (-)
CBA/J MGP_CBAJ_G0022113
 protein coding gene Chr15:112224646-112237403 (-)
DBA/2J MGP_DBA2J_G0022244
 protein coding gene Chr15:99705183-99715035 (-)
FVB/NJ MGP_FVBNJ_G0022220
 protein coding gene Chr15:98767319-98777814 (-)
LP/J MGP_LPJ_G0022313
 protein coding gene Chr15:104685283-104695094 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022242
 protein coding gene Chr15:115785669-115796811 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022838
 protein coding gene Chr15:103485483-103495163 (-)
PWK/PhJ MGP_PWKPhJ_G0021410
 protein coding gene Chr15:99861256-99871162 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021242
 protein coding gene Chr15:103335914-103345580 (-)
WSB/EiJ MGP_WSBEiJ_G0021720
 protein coding gene Chr15:104117428-104129450 (-)



Homology
more
  • Human Ortholog
    SP7, Sp7 transcription factor
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SP7, Sp7 transcription factor
  • Synonyms
    OI11, OI12, osterix, OSX
  • Links
    NCBI Gene ID: 121340
    neXtProt AC: NX_Q8TDD2
    UniProt: Q8TDD2

  • Chr Location
    12q13.13; chr12:53326575-53345315 (-)  GRCh38
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
    2 phenotypes from multigenic genotypes
    4 images
    82 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
    41
  • GO References
    12
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
membraneless 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
    1116
  • Tissues
    176
  • cDNA Data
    16
  • Literature Summary
    224
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 170574 NCBI Gene Model | MGI Sequence Detail 10461 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
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 46
      Genomic 2
      cDNA 16
      Primer pair 12
      Other 16

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:2159409, MGI:2443070
    References
    more
    • Summaries
      All 372
      Developmental Gene Expression 224
      Diseases 1
      Gene Ontology 12
      Phenotypes 82
    • 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:355649 Li Q, et al., Metabolic rewiring during bone development underlies tRNA m7G-associated primordial dwarfism. J Clin Invest. 2024 Sep 10;134(20)
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory