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Sall4 Gene Detail
Summary
  • Symbol
    Sall4
  • Name
    spalt like transcription factor 4
  • Synonyms
    5730441M18Rik, C330011P20Rik, Tex20
  • Feature Type
    protein coding gene
  • IDs
    MGI:2139360
    NCBI Gene: 99377
  • Alliance
    gene page
  • Transcription Start Sites
    18 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:168590252-168609121 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 88.99 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    86 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2139360
 protein coding gene Chr2:168590252-168609863 (-)
129S1/SvImJ MGP_129S1SvImJ_G0026929
 protein coding gene Chr2:174635563-174659243 (-)
A/J MGP_AJ_G0026896
 protein coding gene Chr2:167389627-167413472 (-)
AKR/J MGP_AKRJ_G0026867
 protein coding gene Chr2:172391831-172417220 (-)
BALB/cJ MGP_BALBcJ_G0026905
 protein coding gene Chr2:167752460-167772992 (-)
C3H/HeJ MGP_C3HHeJ_G0026647
 protein coding gene Chr2:172762676-172784172 (-)
C57BL/6NJ MGP_C57BL6NJ_G0027352
 protein coding gene Chr2:179716858-179738488 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024723
 protein coding gene Chr2:160695672-160715904 (-)
CAST/EiJ MGP_CASTEiJ_G0026105
 protein coding gene Chr2:173264839-173286319 (-)
CBA/J MGP_CBAJ_G0026624
 protein coding gene Chr2:186329732-186352186 (-)
DBA/2J MGP_DBA2J_G0026762
 protein coding gene Chr2:166492993-166512823 (-)
FVB/NJ MGP_FVBNJ_G0026728
 protein coding gene Chr2:165068726-165088427 (-)
LP/J MGP_LPJ_G0026863
 protein coding gene Chr2:174629361-174651479 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026747
 protein coding gene Chr2:189584419-189617405 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027409
 protein coding gene Chr2:172321718-172342691 (-)
PWK/PhJ MGP_PWKPhJ_G0025842
 protein coding gene Chr2:166183514-166205131 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025643
 protein coding gene Chr2:171294506-171318508 (-)
WSB/EiJ MGP_WSBEiJ_G0026178
 protein coding gene Chr2:173244364-173266878 (-)



Homology
more
  • Human Ortholog
    SALL4, spalt like transcription factor 4
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SALL4, spalt like transcription factor 4
  • Synonyms
    DRRS, HSAL4, IVIC, ZNF797
  • Links
    NCBI Gene ID: 57167
    neXtProt AC: NX_Q9UJQ4
    UniProt: Q9UJQ4

  • Chr Location
    20q13.2; chr20:51782331-51802521 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Sall4 mouse models; 5 with human SALL4 associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    68 phenotypes from 13 alleles in 10 genetic backgrounds
    27 phenotypes from multigenic genotypes
    2 images
    34 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.
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
less
  • All GO Annotations
    41
  • GO References
    16
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
    1090
  • Tissues
    184
  • cDNA Data
    23
  • Literature Summary
    55
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 99377 NCBI Gene Model | MGI Sequence Detail 18870 C57BL/6J ±  kb
    transcript NM_175303 RefSeq | MGI Sequence Detail 5015 C57BL/6  
    polypeptide Q8BX22 UniProt | EBI | MGI Sequence Detail 1067 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 35
      cDNA 23
      Primer pair 7
      Other 5

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1922958, MGI:2138745, MGI:2139124, MGI:2139468, MGI:2139473
    References
    more
    • Summaries
      All 119
      Developmental Gene Expression 55
      Diseases 3
      Gene Ontology 16
      Phenotypes 34
    • 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:346126 Pappas MP, et al., Sall4 regulates posterior trunk mesoderm development by promoting mesodermal gene expression and repressing neural genes in the mesoderm. Development. 2024 Mar 1;151(5)
    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
    04/09/2024
    MGI 6.23     		The Jackson Laboratory