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Sall4 Gene Detail
Summary
  • Symbol
    Sall4
  • Name
    sal-like 4 (Drosophila)
  • Synonyms
    5730441M18Rik, C330011P20Rik, Tex20
  • Feature Type
    protein coding gene
  • IDs
    MGI:2139360
    NCBI Gene: 99377
Location & Maps
more
  • Sequence Map
    Chr2:168748332-168767943 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      19612 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    SALL4, spalt-like transcription factor 4
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SALL4, spalt-like transcription factor 4
    Orthology source: HomoloGene
  • Synonyms
    DRRS, HSAL4, ZNF797
  • Links
    NCBI Gene ID: 57167
    neXtProt AC: NX_Q9UJQ4

  • Chr Location
    20q13.2; chr20:51784009-51913245 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 10716
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: SALL4
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Sall4 mouse models; 2 with human SALL4 associations

Human Disease Mouse Models
       Duane-Radial Ray Syndrome; DRRS   OMIM: 607323 View 4 models
       Otitis Media, Susceptibility to   OMIM: 166760 View 1 model
       IVIC Syndrome   OMIM: 147750
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    66 phenotypes from 13 alleles in 10 genetic backgrounds
    46 phenotypes from multigenic genotypes
    2 images
    25 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
Homozygous mutation of this gene results in early embryonic lethality before somite formation. Heterozygous mutation of this locus causes variable phenotypes, from heart and digit defects to deafness, anogenital tract defects, cranial and carpal bone defects and renal agenesis or hypoplasia.
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 OTTMUSG00000016116 VEGA Gene Model | MGI Sequence Detail 19612 C57BL/6J ±  kb
transcript OTTMUST00000038511 VEGA | MGI Sequence Detail 5073 Not Applicable  
polypeptide OTTMUSP00000017238 VEGA | MGI Sequence Detail 1067 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    94 from dbSNP Build 137
Protein
Information
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  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000014439 Sal-like protein 4
  • InterPro Domains
    IPR007087 Zinc finger, C2H2
    IPR015880 Zinc finger, C2H2-like
    IPR013087 Zinc finger C2H2-type/integrase DNA-binding domain
Molecular
Reagents
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  • All nucleic 24
    cDNA 21
    Primer pair 3

    Microarray probesets 5
Other
Accession IDs
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MGI:1922958, MGI:2138745, MGI:2139124, MGI:2139468, MGI:2139473
References
more
  • Summaries
    All 84
    Developmental Gene Expression 35
    Diseases 5
    Gene Ontology 13
    Phenotypes 25
  • Earliest
    J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
  • Latest
    J:226028 Lewandowski JP, et al., Spatiotemporal regulation of GLI target genes in the mammalian limb bud. Dev Biol. 2015 Oct 1;406(1):92-103

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
02/02/2016
MGI 6.02
The Jackson Laboratory