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Aliases for SALL4 Gene

Aliases for SALL4 Gene

  • Spalt-Like Transcription Factor 4 2 3
  • Zinc Finger Protein SALL4 3 4
  • Zinc Finger Protein 797 3 4
  • ZNF797 3 4
  • HSAL4 3 6
  • Sal (Drosophila)-Like 4 2
  • Sal-Like 4 (Drosophila) 2
  • Sal-Like Protein 4 3
  • DJ1112F19.1 3
  • DRRS 3

External Ids for SALL4 Gene

Previous GeneCards Identifiers for SALL4 Gene

  • GC20M050129
  • GC20M051039
  • GC20M051086
  • GC20M049833
  • GC20M050400
  • GC20M047147

Summaries for SALL4 Gene

Entrez Gene Summary for SALL4 Gene

  • The protein encoded by this gene may be a zinc finger transcription factor. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). [provided by RefSeq, Jul 2008]

GeneCards Summary for SALL4 Gene

SALL4 (Spalt-Like Transcription Factor 4) is a Protein Coding gene. Diseases associated with SALL4 include duane-radial ray syndrome and ivic syndrome. Among its related pathways are Regulation of Wnt-mediated beta catenin signaling and target gene transcription. An important paralog of this gene is SALL3.

UniProtKB/Swiss-Prot for SALL4 Gene

  • Transcription factor with a key role in the maintenance and self-renewal of embryonic and hematopoietic stem cells.

Gene Wiki entry for SALL4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SALL4 Gene

Genomics for SALL4 Gene

Regulatory Elements for SALL4 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SALL4 Gene

51,784,012 bp from pter
51,802,520 bp from pter
18,509 bases
Minus strand

Genomic View for SALL4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SALL4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SALL4 Gene

Proteins for SALL4 Gene

  • Protein details for SALL4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Sal-like protein 4
    Protein Accession:
    Secondary Accessions:
    • A2A2D8
    • Q540H3
    • Q6Y8G6

    Protein attributes for SALL4 Gene

    1053 amino acids
    Molecular mass:
    112231 Da
    Quaternary structure:
    • Interacts with NANOG (By similarity). Interacts with POU5F1/OCT4.

    Alternative splice isoforms for SALL4 Gene


neXtProt entry for SALL4 Gene

Proteomics data for SALL4 Gene at MOPED

Post-translational modifications for SALL4 Gene

  • Isoform SALL4B exists primarily as a ubiquitinated form.
  • Sumoylation with both SUMO1 and SUMO2 regulates the stability, subcellular localization, transcriptional activity, and may reduce interaction with POU5F1/OCT4.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SALL4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SALL4 (SALL4)

No data available for DME Specific Peptides for SALL4 Gene

Domains for SALL4 Gene

Gene Families for SALL4 Gene

  • ZNF :Zinc fingers, C2H2-type

Protein Domains for SALL4 Gene

Suggested Antigen Peptide Sequences for SALL4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Q9UJQ4
  • Belongs to the sal C2H2-type zinc-finger protein family.
  • Contains 7 C2H2-type zinc fingers.
genes like me logo Genes that share domains with SALL4: view

Function for SALL4 Gene

Molecular function for SALL4 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor with a key role in the maintenance and self-renewal of embryonic and hematopoietic stem cells.

Gene Ontology (GO) - Molecular Function for SALL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SALL4: view
genes like me logo Genes that share phenotypes with SALL4: view

Animal Models for SALL4 Gene

MGI Knock Outs for SALL4:

Animal Model Products

miRNA for SALL4 Gene

miRTarBase miRNAs that target SALL4

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SALL4 Gene

Localization for SALL4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SALL4 Gene

Cytoplasm. Nucleus.

Subcellular locations from

Jensen Localization Image for SALL4 Gene COMPARTMENTS Subcellular localization image for SALL4 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for SALL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000792 heterochromatin IEA --
GO:0005634 nucleus --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with SALL4: view

Pathways for SALL4 Gene

genes like me logo Genes that share pathways with SALL4: view

Pathways by source for SALL4 Gene

Gene Ontology (GO) - Biological Process for SALL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001701 in utero embryonic development --
GO:0001833 inner cell mass cell proliferation IEA --
GO:0001843 neural tube closure IEA --
GO:0003281 ventricular septum development IEA --
genes like me logo Genes that share ontologies with SALL4: view

Compounds for SALL4 Gene

(1) Novoseek inferred chemical compound relationships for SALL4 Gene

Compound -log(P) Hits PubMed IDs
zinc 32.3 2
genes like me logo Genes that share compounds with SALL4: view

Transcripts for SALL4 Gene

Unigene Clusters for SALL4 Gene

Sal-like 4 (Drosophila):
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SALL4

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SALL4 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d · 5e ^ 6 ^ 7a · 7b
SP1: - - - - - -
SP2: - -
SP3: - - - - - - -
SP4: - - - - - - - - - - -
SP5: - -

Relevant External Links for SALL4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SALL4 Gene

mRNA expression in normal human tissues for SALL4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SALL4 Gene

This gene is overexpressed in Thyroid (12.2), Testis (8.2), Pancreas (4.7), and Prostate (4.3).

Protein differential expression in normal tissues for SALL4 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SALL4 Gene

SOURCE GeneReport for Unigene cluster for SALL4 Gene Hs.517113

mRNA Expression by UniProt/SwissProt for SALL4 Gene

Tissue specificity: Expressed in testis. Constitutively expressed in acute myeloid leukemia (AML).
genes like me logo Genes that share expressions with SALL4: view

Expression partners for SALL4 Gene

In Situ Assay Products

Orthologs for SALL4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SALL4 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia SALL4 35
  • 80.73 (n)
  • 81.05 (a)
SALL4 36
  • 80 (a)
(Canis familiaris)
Mammalia SALL4 35
  • 86.24 (n)
  • 87.25 (a)
-- 36
  • 87 (a)
(Mus musculus)
Mammalia Sall4 35
  • 78.54 (n)
  • 75.64 (a)
Sall4 16
Sall4 36
  • 74 (a)
(Pan troglodytes)
Mammalia SALL4 35
  • 99.62 (n)
  • 99.53 (a)
SALL4 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Sall4 35
  • 78.83 (n)
  • 76.63 (a)
(Monodelphis domestica)
Mammalia SALL4 36
  • 60 (a)
(Ornithorhynchus anatinus)
Mammalia SALL4 36
  • 62 (a)
(Gallus gallus)
Aves SALL4 35
  • 66.4 (n)
  • 63.69 (a)
SALL4 36
  • 58 (a)
(Anolis carolinensis)
Reptilia SALL4 36
  • 56 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sall4 35
  • 58.73 (n)
  • 56.96 (a)
Str.6496 35
African clawed frog
(Xenopus laevis)
Amphibia SALL4 35
(Danio rerio)
Actinopterygii sall4 35
  • 56.56 (n)
  • 52.54 (a)
sbcb372 35
sall4 36
  • 46 (a)
fruit fly
(Drosophila melanogaster)
Insecta salm 36
  • 20 (a)
salr 36
  • 22 (a)
(Caenorhabditis elegans)
Secernentea sem-4 36
  • 27 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FZF1 36
  • 25 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 25 (a)
-- 36
  • 21 (a)
Species with no ortholog for SALL4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SALL4 Gene

Gene Tree for SALL4 (if available)
Gene Tree for SALL4 (if available)

Paralogs for SALL4 Gene

Paralogs for SALL4 Gene

Selected SIMAP similar genes for SALL4 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SALL4: view

Variants for SALL4 Gene

Sequence variations from dbSNP and Humsavar for SALL4 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs727968 -- 51,797,024(+) TAGAT(A/G)AGAAA intron-variant
rs730090 -- 51,787,799(+) ACTGC(A/G)TCCGG intron-variant
rs1018422 -- 51,787,913(+) acctc(C/T)caggt intron-variant
rs1018423 -- 51,788,105(+) gggtg(C/T)tgagc intron-variant
rs2104897 -- 51,787,764(+) cacct(C/T)ccaaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SALL4 Gene

Variant ID Type Subtype PubMed ID
dgv1334e1 CNV Complex 17122850

Relevant External Links for SALL4 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SALL4 Gene

Disorders for SALL4 Gene

(2) OMIM Diseases for SALL4 Gene (607343)


  • Duane-radial ray syndrome (DRRS) [MIM:607323]: Disorder characterized by the association of forearm malformations with Duane retraction syndrome. {ECO:0000269 PubMed:12393809, ECO:0000269 PubMed:12395297, ECO:0000269 PubMed:16402211}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Oculootoradial syndrome (OORS) [MIM:147750]: Autosomal dominant condition characterized by upper limbs anomalies (radial ray defects, carpal bones fusion), extraocular motor disturbances, congenital bilateral non-progressive mixed hearing loss. Other less consistent malformations include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation or rectovaginal fistula. The IVIC syndrome is an allelic disorder of Duane-radial ray syndrome (DRRS) with a similar phenotype. {ECO:0000269 PubMed:17256792}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for SALL4 Gene

(1) Novoseek inferred disease relationships for SALL4 Gene

Disease -log(P) Hits PubMed IDs
okihiro syndrome 98.6 10

Relevant External Links for SALL4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with SALL4: view

No data available for Genatlas for SALL4 Gene

Publications for SALL4 Gene

  1. Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. (PMID: 12395297) Al-Baradie R. … Engle E.C. (Am. J. Hum. Genet. 2002) 3 4 23
  2. A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome. (PMID: 16402211) Miertus J. … Kohlhase J. (Hum. Genet. 2006) 3 4 23
  3. A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation. (PMID: 16411190) Terhal P. … Kohlhase J. (Am. J. Med. Genet. A 2006) 3 23
  4. Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum. (PMID: 15286162) Borozdin W. … Kohlhase J. (J. Med. Genet. 2004) 3 23
  5. SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. (PMID: 16086360) Kohlhase J. … RAPsler B. (Hum. Mutat. 2005) 3 23

Products for SALL4 Gene

Sources for SALL4 Gene

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