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SALL4 Gene

protein-coding   GIFtS: 59
GCID: GC20M050400

Spalt-Like Transcription Factor 4

(Previous names: sal (Drosophila)-like 4, sal-like 4 (Drosophila))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Spalt-Like Transcription Factor 41 2     Sal (Drosophila)-Like 41
Zinc Finger Protein 7972 3     Sal-Like 4 (Drosophila)1
Zinc Finger Protein SALL42 3     DRRS2
ZNF7972 3     dJ1112F19.12
HSAL42 5     Sal-Like Protein 42

External Ids:    HGNC: 159241   Entrez Gene: 571672   Ensembl: ENSG000001011157   OMIM: 6073435   UniProtKB: Q9UJQ43   

Export aliases for SALL4 gene to outside databases

Previous GC identifers: GC20M050129 GC20M051039 GC20M051086 GC20M049833 GC20M047147


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 ivic syndrome, and acro-renal-ocular syndrome. An important paralog of this gene is SALL3.

UniProtKB/Swiss-Prot: SALL4_HUMAN, Q9UJQ4
Function: Transcription factor with a key role in the maintenance and self-renewal of embryonic and hematopoietic
stem cells

Gene Wiki entry for SALL4 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000020.11  NT_011362.11  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SALL4 gene promoter:
         AhR   NF-1   Pax-5   Pbx1a   POU6F1 (c2)   CUTL1   Cdc5   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSALL4 promoter sequence
   Search Chromatin IP Primers for SALL4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SALL4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q13.2   Ensembl cytogenetic band:  20q13.2   HGNC cytogenetic band: 20q13.2

SALL4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SALL4 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M050400:  view genomic region     (about GC identifiers)

Start:
50,400,581 bp from pter      End:
50,419,059 bp from pter
Size:
18,479 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SALL4_HUMAN, Q9UJQ4 (See protein sequence)
Recommended Name: Sal-like protein 4  
Size: 1053 amino acids; 112231 Da
Subunit: Interacts with NANOG (By similarity). Interacts with POU5F1/OCT4
Secondary accessions: A2A2D8 Q540H3 Q6Y8G6
Alternative splicing: 2 isoforms:  Q9UJQ4-1   Q9UJQ4-2   

Explore the universe of human proteins at neXtProt for SALL4: NX_Q9UJQ4

Explore proteomics data for SALL4 at MOPED

Post-translational modifications: 

  • Isoform SALL4B exists primarily as a ubiquitinated form1
  • Sumoylation with both SUMO1 and SUMO2 regulates the stability, subcellular localization, transcriptional activity,
    and may reduce interaction with POU5F1/OCT41
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SALL4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065169.1  
    ENSEMBL proteins: 
     ENSP00000217086   ENSP00000379319   ENSP00000360594  
    Reactome Protein details: Q9UJQ4

    SALL4 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for SALL4
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    Novus Biologicals SALL4 Protein
    Novus Biologicals SALL4 Lysate
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for SALL4

    SALL4 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    ThermoFisher Antibody for SALL4
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    Cloud-Clone Corp. CLIAs for SALL4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ZNF: Zinc fingers, C2H2-type

    3 InterPro protein domains:
     IPR015880 Znf_C2H2-like
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q9UJQ4

    ProtoNet protein and cluster: Q9UJQ4

    UniProtKB/Swiss-Prot: SALL4_HUMAN, Q9UJQ4
    Similarity: Belongs to the sal C2H2-type zinc-finger protein family
    Similarity: Contains 7 C2H2-type zinc fingers


    SALL4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SALL4_HUMAN, Q9UJQ4
    Function: Transcription factor with a key role in the maintenance and self-renewal of embryonic and hematopoietic
    stem cells

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0005515protein binding ----
    GO:0046872metal ion binding IEA--
         
    SALL4 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SALL4:
     G2 arrest  Increased G2M DNA content 

         Selected MGI mutant phenotypes (inferred from 13 alleles(MGI details for Sall4) (see all 16):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  growth/size/body  hearing/vestibular/ear  immune system  limbs/digits/tail 
     mortality/aging  nervous system  renal/urinary system  reproductive system  skeleton 

    SALL4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SALL4: Sall4tm1Bili Sall4tm1Ryn Sall4tm2.1Tre Sall4tm1Tre Sall4tm4Ryn Sall4tm1Brd

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SALL4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SALL4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SALL4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SALL4

    miRNA
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    miRTarBase miRNAs that target SALL4:
    hsa-mir-335-5p (MIRT016935)

    Block miRNA regulation of human, mouse, rat SALL4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SALL4 (see all 15):
    hsa-miR-579 hsa-miR-15a hsa-miR-497 hsa-miR-219-5p hsa-miR-507 hsa-miR-103a hsa-miR-508-3p hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidSALL4 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SALL4
    Predesigned siRNA for gene silencing in human, mouse, rat SALL4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SALL4

    Clone
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    OriGene clones in human, mouse for SALL4 (see all 8)
    OriGene ORF clones in mouse, rat for SALL4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SALL4 (NM_020436)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SALL4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SALL4

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for SALL4 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SALL4


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SALL4_HUMAN, Q9UJQ4: Cytoplasm. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000792heterochromatin IEA--
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--
    GO:0043234protein complex IEA--

    SALL4 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SALL4 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Regulation of Wnt-mediated beta catenin signaling and target gene transcription
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SALL4
        Regulation of Wnt-mediated beta catenin signaling and target gene transcription

    1 Reactome Pathway for SALL4
        Transcriptional regulation of pluripotent stem cells



    SALL4 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SALL4
    Interactions:

        Search GeneGlobe Interaction Network for SALL4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SALL4 (Q9UJQ43 ENSP000002170864) via UniProtKB, MINT, STRING, and/or I2D (see all 77)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000235068Q018603, ENSP000004050414I2D: score=4 STRING: ENSP00000405041
    ENSG00000206454Q018603I2D: score=4 
    ENSG00000229094Q018603I2D: score=4 
    ENSG00000230336Q018603I2D: score=4 
    ENSG00000233911Q018603I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001701in utero embryonic development ----
    GO:0001833inner cell mass cell proliferation IEA--
    GO:0001843neural tube closure IEA--
    GO:0003281ventricular septum development IEA--

    SALL4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SALL4

    1 Novoseek inferred chemical compound relationship for SALL4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 32.3 2 16086360 (1), 16411190 (1)



    SALL4 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SALL4 gene: 
    NM_020436.3  

    Unigene Cluster for SALL4:

    Sal-like 4 (Drosophila)
    Hs.517113  [show with all ESTs]
    Unigene Representative Sequence: NM_020436
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000217086(uc002xwh.4 uc010gii.3 uc002xwi.4) ENST00000395997
    ENST00000483130 ENST00000481363 ENST00000371539
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SALL4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SALL4 (see all 15):
    hsa-miR-579 hsa-miR-15a hsa-miR-497 hsa-miR-219-5p hsa-miR-507 hsa-miR-103a hsa-miR-508-3p hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidSALL4 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SALL4
    Predesigned siRNA for gene silencing in human, mouse, rat SALL4
    Clone
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    OriGene ORF clones in mouse, rat for SALL4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SALL4 (NM_020436)
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SALL4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SALL4
      QuantiTect SYBR Green Assays in human, mouse, rat SALL4
      QuantiFast Probe-based Assays in human, mouse, rat SALL4

    Additional mRNA sequence: 

    AK001666.1 AY170621.1 AY170622.1 AY172738.1 BC111714.1 

    3 DOTS entries:

    DT.108738  DT.100725623  DT.120827482 

    Selected AceView cDNA sequences (see all 35):

    AY172738 BX089818 AW582834 AW270757 AY170622 BX479229 NM_020436 AA419623 
    AA399371 CD655292 BM557759 CD642385 AA417660 AI968562 AI632569 BF056751 
    CD656859 AA872683 AA601246 AI334028 AA401779 AY170621 AI638657 CD644001 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SALL4 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for SALL4

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SALL4 expression in normal human tissues (normalized intensities)      SALL4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCAATGGCG
    SALL4 Expression
    About this image


    SALL4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 14 entries
             Zygote Zygote
             Line H1 (WA01)
     
     Zygote (Early Embryonic Tissues)    fully expand to see all 5 entries
             Zygote Zygote
     
     Trophoblast (Extraembryonic Tissues)    fully expand to see all 5 entries
             Zygote Zygote
     
     Kidney (Urinary System)
             Intermediate mesoderm derivatives
     
     NULL (Uncategorized)    fully expand to see all 2 entries
             Intermediate mesoderm derivatives
    SALL4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SALL4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.517113

    UniProtKB/Swiss-Prot: SALL4_HUMAN, Q9UJQ4
    Tissue specificity: Expressed in testis. Constitutively expressed in acute myeloid leukemia (AML)

        Custom PCR Arrays for SALL4
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SALL4
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    QuantiFast Probe-based Assays in human, mouse, rat SALL4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SALL4

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SALL4 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sall41 , 5 sal-like 4 (Drosophila)1, 5 78.54(n)1
    75.64(a)1
      2 (88.99 cM)5
    993771  NM_175303.31  NP_780512.21 
     1687483325 
    chicken
    (Gallus gallus)
    Aves SALL41 sal-like 4 (Drosophila) 66.4(n)
    63.69(a)
      769286  NM_001080872.1  NP_001074341.1 
    lizard
    (Anolis carolinensis)
    Reptilia SALL46
    spalt-like transcription factor 4
    56(a)
    1 ↔ 1
    GL343226.1(1367462-1391084)
    African clawed frog
    (Xenopus laevis)
    Amphibia SALL42 zinc finger transcription factor SALL4 76.56(n)    AY336983.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sbcb3722 sbcb372 76.97(n)   321225  CA588086.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta salr6
    salm6
    spalt major
    22(a)
    20(a)
    many ↔ many
    many ↔ many
    2L(11358873-11373637)
    2L(11434311-11445603)
    worm
    (Caenorhabditis elegans)
    Secernentea sem-46
    Protein SEM-4 (sem-4) mRNA, complete cds
    27(a)
    1 → many
    I(7038900-7048834) WBGene00004773
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FZF16
    Transcription factor involved in sulfite metabolis...
    25(a)
    1 → many
    VII(22304-23203) YGL254W


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SALL4 gene
    SALL32  ZNF2362  SALL22  SALL12  
    13 SIMAP similar genes for SALL4 using alignment to 2 protein entries:     SALL4_HUMAN (see all proteins):
    DKFZp434J0650    HZF16    ZFS-4    ZNF78L1    ZFS-5    ZNF
    kr-znf3    SALL3    ZNF844    ZFS-6    ZNF702P    SALL1
    A-328A3.4

    SALL4 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for SALL4 (see all 9)
    PGOHUM00000248494 PGOHUM00000247817 PGOHUM00000248080 PGOHUM00000249005 PGOHUM00000259289


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SALL4 (see all 582)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0330544
    Duane-radial ray syndrome (DRRS)4--see VAR_0330542 H R mis40--------
    rs743154281,2
    Cpathogenic150376251(-) GTGGGC/TGAGCT 2 R * stg10--------
    rs743154291,2
    Cpathogenic150376301(-) GATCCA/GCGAGC 2 H R mis10--------
    rs743154251,2
    Cpathogenic150376371(-) CACGCC/TGACAG 2 R * stg10--------
    rs743154241,2
    Cpathogenic150377890(-) GCGGTC/TAGATT 2 Q * stg10--------
    rs743154271,2
    Cpathogenic150377995(-) TTCACC/TGAACC 2 R * stg10--------
    rs743154261,2
    Cpathogenic150379321(-) AAGGCA/TAAGTG 2 K * stg10--------
    rs1411794401,2
    --50370908(+) CTCCCC/TTCAAT 1 -- ds50010--------
    rs341055501,2
    C--50371099(+) AAAAA-/AGTGCC 1 -- ds50011Minor allele frequency- A:0.50NA 2
    rs3772906881,2
    C--50371120(+) GCTCAC/TCCTGT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for SALL4 (50400581 - 50419059 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SALL4:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv1334e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): SALL4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SALL4
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607343   
    OMIM disorders: 607323  147750  
    UniProtKB/Swiss-Prot: SALL4_HUMAN, Q9UJQ4
  • Duane-radial ray syndrome (DRRS) [MIM:607323]: Disorder characterized by the association of forearm
    malformations with Duane retraction syndrome. 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for SALL4 (see all 40):    About MalaCards
    ivic syndrome    acro-renal-ocular syndrome    ovarian primitive germ cell tumor    okihiro syndrome due to a point mutation
    sall4-related disorders    duane-radial ray syndrome    malignant germ cell tumor    okihiro syndrome due to 20q13 microdeletion
    spermatocytoma    duane retraction syndrome    alk-positive anaplastic large cell lymphoma    extragonadal germ cell tumor
    congenital fibrosis of the extraocular muscles    wolf-hirschhorn syndrome    was-related disorders    imperforate anus
    holt-oram syndrome    anaplastic large cell lymphoma    germ cell tumors    rhabdoid tumor

    2 diseases from the University of Copenhagen DISEASES database for SALL4:
    Duane retraction syndrome     Teratoma

    SALL4 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for SALL4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    okihiro syndrome 98.6 12 16402211 (2), 16411190 (2), 15286162 (1), 16790473 (1) (see all 8)

    GeneTests: SALL4
    GeneReviews: SALL4
    Genetic Association Database (GAD): SALL4
    Human Genome Epidemiology (HuGE) Navigator: SALL4 (4 documents)

    Export disorders for SALL4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SALL4 gene, integrated from 10 sources (see all 81):
    (articles sorted by number of sources associating them with SALL4)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 16402211)1, 2, 9 Miertus J.... Kohlhase J. (Hum. Genet. 2006)
    2. Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. (PubMed id 12395297)1, 2, 9 Al-Baradie R.... Engle E.C. (Am. J. Hum. Genet. 2002)
    3. Sumoylation is important for stability, subcellular localization, and transcriptional activity of SALL4, an essential stem cell transcription factor. (PubMed id 23012367)1, 2 Yang F.... Dai W. (J. Biol. Chem. 2012)
    4. Genetic variation of SAL-Like 4 (SALL4) in ventricular septal defect. (PubMed id 19619907)1, 4 Wang B....Ma X. (Int. J. Cardiol. 2010)
    5. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    6. Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia. (PubMed id 19478329)1, 4 Aston K.I. and Carrell D.T. (J. Androl. 2009)
    7. Mutational analysis of SAL-Like 4 (SALL4) in Han Chinese women with premature ovarian failure. (PubMed id 19581335)1, 4 Wang B....Cao Y. (Mol. Hum. Reprod. 2009)
    8. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PubMed id 18519826)1, 4 Uhl G.R....Lerman C. (Arch. Gen. Psychiatry 2008)
    9. IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus. (PubMed id 17256792)1, 2 Paradisi I. and Arias S. (Am. J. Med. Genet. A 2007)
    10. SALL4, a novel oncogene, is constitutively expressed in human acute myeloid leukemia (AML) and induces AML in transgenic mice. (PubMed id 16763212)1, 2 Ma Y.... Chai L. (Blood 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 57167 HGNC: 15924 AceView: SALL4 Ensembl:ENSG00000101115 euGenes: HUgn57167
    ECgene: SALL4 H-InvDB: SALL4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SALL4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SALL4[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SALL4 gene:
    Search GeneIP for patents involving SALL4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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