About   Help   FAQ
Sp6 Gene Detail
Summary
  • Symbol
    Sp6
  • Name
    trans-acting transcription factor 6
  • Synonyms
    1110025J03Rik, Epfn, epiprofin, Klf14
  • Feature Type
    protein coding gene
  • IDs
    MGI:1932575
    NCBI Gene: 83395
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:96904395-96915565 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 60.51 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    265 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1932575
 protein coding gene Chr11:96904220-96915565 (+)
129S1/SvImJ MGP_129S1SvImJ_G0019019
 protein coding gene Chr11:99389816-99402520 (+)
A/J MGP_AJ_G0018987
 protein coding gene Chr11:95321333-95333575 (+)
AKR/J MGP_AKRJ_G0018957
 protein coding gene Chr11:98278145-98289653 (+)
BALB/cJ MGP_BALBcJ_G0018960
 protein coding gene Chr11:95809663-95821655 (+)
C3H/HeJ MGP_C3HHeJ_G0018774
 protein coding gene Chr11:98389138-98400237 (+)
C57BL/6NJ MGP_C57BL6NJ_G0019412
 protein coding gene Chr11:102473705-102486636 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0017043
 protein coding gene Chr11:92784823-92795871 (+)
CAST/EiJ MGP_CASTEiJ_G0018327
 protein coding gene Chr11:99240584-99255382 (+)
CBA/J MGP_CBAJ_G0018745
 protein coding gene Chr11:106681046-106695085 (+)
DBA/2J MGP_DBA2J_G0018853
 protein coding gene Chr11:94872310-94884712 (+)
FVB/NJ MGP_FVBNJ_G0018842
 protein coding gene Chr11:94350491-94361694 (+)
LP/J MGP_LPJ_G0018923
 protein coding gene Chr11:99917448-99930837 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0018869
 protein coding gene Chr11:106604695-106617206 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0019452
 protein coding gene Chr11:98571235-98584390 (+)
PWK/PhJ MGP_PWKPhJ_G0018099
 protein coding gene Chr11:95844526-95855839 (+)
SPRET/EiJ MGP_SPRETEiJ_G0017889
 protein coding gene Chr11:98296120-98307097 (+)
WSB/EiJ MGP_WSBEiJ_G0018377
 protein coding gene Chr11:98477865-98490152 (+)



Homology
more
  • Human Ortholog
    SP6, Sp6 transcription factor
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SP6, Sp6 transcription factor
  • Synonyms
    AI1K, EPFN, EPIPROFIN, KLF14
  • Links
    NCBI Gene ID: 80320
    neXtProt AC: NX_Q3SY56
    UniProt: Q3SY56

  • Chr Location
    17q21.32; chr17:47844908-47876311 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human SP6 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    42 phenotypes from 3 alleles in 3 genetic backgrounds
    3 images
    17 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 disruption at this locus display impaired skin, hair follicle, tooth and lung development as well as limb abnormalities and partial postnatal lethality.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    16
  • GO References
    10
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
    866
  • Tissues
    123
  • cDNA Data
    13
  • Literature Summary
    22
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 83395 NCBI Gene Model | MGI Sequence Detail 11171 C57BL/6J ±  kb
    transcript NM_001363230 RefSeq | MGI Sequence Detail 3620 C57BL/6  
    polypeptide Q9ESX2 UniProt | EBI | MGI Sequence Detail 376 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 21
      cDNA 13
      Primer pair 4
      Other 4

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1915872, MGI:2144036, MGI:2144231
    References
    more
    • Summaries
      All 65
      Developmental Gene Expression 22
      Gene Ontology 10
      Phenotypes 17
    • Earliest
      J:56548 Zheng B, et al., Engineering a mouse balancer chromosome. Nat Genet. 1999 Aug;22(4):375-8
    • Latest
      J:354246 Zhu S, et al., Follistatin controls the number of murine teeth by limiting TGF-beta signaling. iScience. 2024 Sep 20;27(9):110785
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory