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Aliases for SALL4 Gene

Aliases for SALL4 Gene

  • Spalt Like Transcription Factor 4 2 3 5
  • Zinc Finger Protein SALL4 3 4
  • Zinc Finger Protein 797 3 4
  • ZNF797 3 4
  • Sal (Drosophila)-Like 4 2
  • Sal-Like 4 (Drosophila) 2
  • Sal-Like Protein 4 3
  • HSAL4 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

  • This gene encodes a zinc finger transcription factor thought to play a role in the development of abducens motor neurons. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

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 Wnt/beta-catenin Signaling Pathway in Leukemia and Developmental Biology. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. 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

Additional gene information for SALL4 Gene

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

Genomics for SALL4 Gene

GeneHancer (GH) Regulatory Elements for SALL4 Gene

Promoters and enhancers for SALL4 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20I051797 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 577 +113.0 112973 6 HDGF PKNOX1 ARID4B NEUROD1 SIN3A FEZF1 ZBTB7B YY1 ZNF213 E2F8 SALL4 ADNP DPM1 MOCS3 ZFP64 PSMD10P1 RNU7-6P ATP9A PIR39254 GC20M051835
GH20I051810 Enhancer 0.9 ENCODE 11.9 +102.1 102105 0.8 FOXA2 MLX ARID4B DMAP1 ETS1 SLC30A9 FOS DEK SP5 ZHX2 SALL4 PIR39254 GC20M051835
GH20I051741 Enhancer 1.4 Ensembl ENCODE dbSUPER 5.1 +169.8 169788 4.7 PKNOX1 FOXA2 MLX ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B YY1 ADNP DPM1 PSMD10P1 ATP9A SALL4 LOC100419570
GH20I051909 Enhancer 1.2 FANTOM5 Ensembl ENCODE 5.2 +2.6 2596 1.8 SIX4 YBX1 ZNF507 GATA3 RCOR1 PRDM10 FOSL2 FOS TCF7L2 SMARCE1 SALL4 GC20P051905
GH20I051887 Enhancer 0.6 ENCODE 5.9 +24.1 24070 2.4 ZNF664 ZNF121 SP1 GATA3 ZSCAN4 POU5F1 ZSCAN29 PRDM1 ZBTB17 SALL4 RNU6-347P LINC01429
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SALL4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SALL4 gene promoter:

Genomic Locations for SALL4 Gene

Genomic Locations for SALL4 Gene
130,915 bases
Minus strand

Genomic View for SALL4 Gene

Genes around SALL4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SALL4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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. Interacts with BEND3.

    Alternative splice isoforms for SALL4 Gene


neXtProt entry for SALL4 Gene

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.

Other Protein References for SALL4 Gene

No data available for DME Specific Peptides for SALL4 Gene

Domains & Families for SALL4 Gene

Gene Families for SALL4 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

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



  • Belongs to the sal C2H2-type zinc-finger protein family.
  • Belongs to the sal C2H2-type zinc-finger protein family.
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.

Phenotypes From GWAS Catalog for SALL4 Gene

Gene Ontology (GO) - Molecular Function for SALL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity IBA --
GO:0005515 protein binding IPI 21914818
GO:0008134 transcription factor binding IEA --
genes like me logo Genes that share ontologies with SALL4: view
genes like me logo Genes that share phenotypes with SALL4: view

Human Phenotype Ontology for SALL4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SALL4 Gene

MGI Knock Outs for SALL4:

Clone Products

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

Localization for SALL4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SALL4 Gene

Cytoplasm. Nucleus.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SALL4 gene
Compartment Confidence
nucleus 5
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SALL4 Gene

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

Pathways & Interactions for SALL4 Gene

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

Gene Ontology (GO) - Biological Process for SALL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0001701 in utero embryonic development IEA --
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

No data available for SIGNOR curated interactions for SALL4 Gene

Drugs & Compounds for SALL4 Gene

(1) Drugs for SALL4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x12.2), Testis (x8.2), Pancreas (x4.7), and Prostate (x4.3).

Protein differential expression in normal tissues from HIPED for SALL4 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SALL4 Gene

Protein tissue co-expression partners for SALL4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SALL4 Gene:


SOURCE GeneReport for Unigene cluster for SALL4 Gene:


mRNA Expression by UniProt/SwissProt for SALL4 Gene:

Tissue specificity: Expressed in testis. Constitutively expressed in acute myeloid leukemia (AML).

Phenotype-based relationships between genes and organs from Gene ORGANizer for SALL4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • mouth
  • nose
  • outer ear
  • pharynx
  • skull
  • chest wall
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
  • anus
  • pelvis
  • rectum
  • ureter
  • urinary bladder
  • vagina
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shoulder
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • coagulation system
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with SALL4: view

No data available for Evidence on tissue expression from TISSUES for SALL4 Gene

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
(Pan troglodytes)
Mammalia SALL4 33 34
  • 99.62 (n)
(Canis familiaris)
Mammalia -- 34
  • 87 (a)
SALL4 33
  • 86.24 (n)
(Bos Taurus)
Mammalia SALL4 33 34
  • 80.73 (n)
(Rattus norvegicus)
Mammalia Sall4 33
  • 78.83 (n)
(Mus musculus)
Mammalia Sall4 33 16 34
  • 78.54 (n)
(Ornithorhynchus anatinus)
Mammalia SALL4 34
  • 62 (a)
(Monodelphis domestica)
Mammalia SALL4 34
  • 60 (a)
(Gallus gallus)
Aves SALL4 33 34
  • 66.4 (n)
(Anolis carolinensis)
Reptilia SALL4 34
  • 56 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sall4 33
  • 58.73 (n)
Str.6496 33
African clawed frog
(Xenopus laevis)
Amphibia SALL4 33
(Danio rerio)
Actinopterygii sall4 33 34
  • 56.56 (n)
sbcb372 33
fruit fly
(Drosophila melanogaster)
Insecta salr 34
  • 22 (a)
salm 34
  • 20 (a)
(Caenorhabditis elegans)
Secernentea sem-4 34
  • 27 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FZF1 34
  • 25 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 25 (a)
-- 34
  • 21 (a)
Species where no ortholog for SALL4 was found in the sources mined by GeneCards:
  • 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

(13) 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 Variation AA Info Type
rs13038893 benign, not specified, SALL4-Related Spectrum Disorders 51,791,427(-) C/T coding_sequence_variant, synonymous_variant
rs13043248 benign, not specified, SALL4-Related Spectrum Disorders 51,790,446(-) G/A coding_sequence_variant, intron_variant, synonymous_variant
rs137963401 uncertain-significance, SALL4-Related Spectrum Disorders 51,791,487(-) G/A coding_sequence_variant, synonymous_variant
rs138604469 likely-benign, SALL4-Related Spectrum Disorders 51,792,267(-) G/A/C 5_prime_UTR_variant, coding_sequence_variant, missense_variant, synonymous_variant
rs138721208 uncertain-significance, SALL4-Related Spectrum Disorders 51,790,221(-) C/T coding_sequence_variant, intron_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
nsv979442 CNV duplication 23825009
nsv964409 CNV duplication 23825009
esv2758800 CNV loss 17122850

Variation tolerance for SALL4 Gene

Residual Variation Intolerance Score: 16.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.17; 92.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SALL4 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for SALL4 Gene

MalaCards: The human disease database

(27) MalaCards diseases for SALL4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
duane-radial ray syndrome
  • drrs
ivic syndrome
  • radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
okihiro syndrome due to a point mutation
  • duane-radial ray syndrome due to a point mutation
okihiro syndrome due to 20q13 microdeletion
  • duane-radial ray syndrome due to monosomy 20q13
  • spermatocytic seminoma
- elite association - COSMIC cancer census association via MalaCards
Search SALL4 in MalaCards View complete list of genes associated with diseases


  • 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.

Additional Disease Information for SALL4

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SALL4: view

No data available for Genatlas for SALL4 Gene

Publications for SALL4 Gene

  1. 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 (Human genetics 2006) 3 4 22 58
  2. 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 EC (American journal of human genetics 2002) 3 4 22 58
  3. Sumoylation is important for stability, subcellular localization, and transcriptional activity of SALL4, an essential stem cell transcription factor. (PMID: 23012367) Yang F … Dai W (The Journal of biological chemistry 2012) 3 4 58
  4. A BEN-domain-containing protein associates with heterochromatin and represses transcription. (PMID: 21914818) Sathyan KM … Prasanth SG (Journal of cell science 2011) 3 4 58
  5. A novel SALL4/OCT4 transcriptional feedback network for pluripotency of embryonic stem cells. (PMID: 20505821) Yang J … Ma Y (PloS one 2010) 3 22 58

Products for SALL4 Gene

Sources for SALL4 Gene

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