Free for academic non-profit institutions. Other users need a Commercial license

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
  • 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 Developmental Biology and Transcriptional regulation of pluripotent stem cells. 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

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

Enhancers for SALL4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SALL4 on UCSC Golden Path with GeneCards custom track

Genomic Location for SALL4 Gene

Chromosome:
20
Start:
51,782,331 bp from pter
End:
51,913,245 bp from pter
Size:
130,915 bases
Orientation:
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:
    Q9UJQ4-SALL4_HUMAN
    Recommended name:
    Sal-like protein 4
    Protein Accession:
    Q9UJQ4
    Secondary Accessions:
    • A2A2D8
    • Q540H3
    • Q6Y8G6

    Protein attributes for SALL4 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

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

No data available for DME Specific Peptides for SALL4 Gene

Domains & Families for SALL4 Gene

Gene Families for SALL4 Gene

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

UniProtKB/Swiss-Prot:

SALL4_HUMAN :
  • Belongs to the sal C2H2-type zinc-finger protein family.
  • Contains 7 C2H2-type zinc fingers.
Family:
  • Belongs to the sal C2H2-type zinc-finger protein family.
Similarity:
  • 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 IEA --
GO:0044212 transcription regulatory region DNA binding IBA --
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:

Animal Model Products

miRNA for SALL4 Gene

miRTarBase miRNAs that target SALL4

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

COMPARTMENTS
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:0005737 cytoplasm IEA --
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 from RNA polymerase II promoter IEA --
GO:0001833 inner cell mass cell proliferation IEA --
GO:0001843 neural tube closure IEA --
GO:0003281 ventricular septum development IEA --
GO:0007165 signal transduction IBA --
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:

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: - -
SP6:

Relevant External Links for SALL4 Gene

GeneLoc Exon Structure for
SALL4
ECgene alternative splicing isoforms for
SALL4

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 (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



SOURCE GeneReport for Unigene cluster for SALL4 Gene Hs.517113

mRNA Expression by UniProt/SwissProt for SALL4 Gene

Q9UJQ4-SALL4_HUMAN
Tissue specificity: Expressed in testis. Constitutively expressed in acute myeloid leukemia (AML).
genes like me logo Genes that share expression patterns with SALL4: view

Protein tissue co-expression partners for SALL4 Gene

- Elite partner

Primer Products

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
cow
(Bos Taurus)
Mammalia SALL4 35
  • 80.73 (n)
  • 81.05 (a)
SALL4 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SALL4 35
  • 86.24 (n)
  • 87.25 (a)
-- 36
  • 87 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Sall4 35
  • 78.54 (n)
  • 75.64 (a)
Sall4 16
Sall4 36
  • 74 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SALL4 35
  • 99.62 (n)
  • 99.53 (a)
SALL4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sall4 35
  • 78.83 (n)
  • 76.63 (a)
oppossum
(Monodelphis domestica)
Mammalia SALL4 36
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SALL4 36
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves SALL4 35
  • 66.4 (n)
  • 63.69 (a)
SALL4 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SALL4 36
  • 56 (a)
OneToOne
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
zebrafish
(Danio rerio)
Actinopterygii sall4 35
  • 56.56 (n)
  • 52.54 (a)
sbcb372 35
sall4 36
  • 46 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta salm 36
  • 20 (a)
ManyToMany
salr 36
  • 22 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea sem-4 36
  • 27 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FZF1 36
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 25 (a)
ManyToMany
-- 36
  • 21 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for SALL4 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs6126344 - 51,790,963(+) GCTGC(A/C/T)GGTCA intron-variant, reference, missense
rs6091375 - 51,790,091(+) CTTGA(G/T)GCTTT intron-variant, reference, missense
VAR_033054 Duane-radial ray syndrome (DRRS)
rs1015286 -- 51,908,110(-) ttatg(C/T)GTTGG intron-variant
rs1018422 -- 51,787,913(+) acctc(C/T)caggt intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1334e1 CNV Complex 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)

Relevant External Links for SALL4 Gene

HapMap Linkage Disequilibrium report
SALL4
Human Gene Mutation Database (HGMD)
SALL4

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

Disorders for SALL4 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
duane-radial ray syndrome
  • acrorenoocular syndrome
ivic syndrome
  • instituto venezolano de investigaciones cientificas syndrome
acro-renal-ocular syndrome
okihiro syndrome due to a point mutation
  • duane-radial ray syndrome due to a point mutation
sall4-related disorders
- elite association - COSMIC cancer census association via MalaCards
Search SALL4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SALL4_HUMAN
  • 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.

Relevant External Links for SALL4

Genetic Association Database (GAD)
SALL4
Human Genome Epidemiology (HuGE) Navigator
SALL4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SALL4
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. (Hum. Genet. 2006) 3 4 23 67
  2. A novel SALL4/OCT4 transcriptional feedback network for pluripotency of embryonic stem cells. (PMID: 20505821) Yang J. … Ma Y. (PLoS ONE 2010) 3 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. 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
  5. 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

Products for SALL4 Gene

Sources for SALL4 Gene

Content