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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SALL4 Gene

protein-coding   GIFtS: 57
GCID: GC20M050400

sal-like 4 (Drosophila)

(Previous name: sal (Drosophila)-like 4 )
 Explore 31 diseases affiliated with
SALL4 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SALL4    

Aliases
for SALL4 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Sal-Like 4 (Drosophila)1 2     HSAL42 5
ZNF7971 2 3     Sal (Drosophila)-Like 41
DJ1112F19.11     DRRS2
Zinc Finger Protein 7972 3     Sal-Like Protein 42
Zinc Finger Protein SALL42 3     

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


Summaries
for SALL4 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SALL4:
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)

UniProtKB/Swiss-Prot: SALL4_HUMAN, Q9UJQ4
Function: Probable transcription factor

Gene Wiki entry for SALL4


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  NT_011362.10  
Regulatory elements:
   SABiosciences 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 plasmid: SALL4 promoter sequence
   Search SABiosciences Chromatin IP Primers for SALL4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for SALL4 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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)
Subcellular location: Nucleus (Probable)
Secondary accessions: Q540H3

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UJQ4

    • SALL4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_065169.1  
    ENSEMBL proteins: 
     ENSP00000217086   ENSP00000379319   ENSP00000360594  

    Human Recombinant Protein Products: 
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    Novus Biologicals SALL4 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SALL4

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000792heterochromatin IEA--
    GO:0005622intracellular ----
    GO:0005634nucleus IEA--
    GO:0043234protein complex IEA--


    SALL4 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for SALL4 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SALL4 for domains           About GeneDecksing

    3 InterPro domains/families:
     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


    Function
    for SALL4 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: SALL4_HUMAN, Q9UJQ4
    Function: Probable transcription factor

    miRNA
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    8/15 QIAGEN miScript miRNA 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 plasmid: SALL4 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SALL4 (see all 4)
    OriGene shRNA RFP: SALL4
    OriGene siRNA: SALL4
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    Gene Editing
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    Clone
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    Search LifeMap BioReagents cell lines for SALL4

    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--


    SALL4 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for SALL4: Sall4tm1Bili Sall4tm1Ryn Sall4tm2.1Tre Sall4tm1Tre Sall4tm4Ryn Sall4tm1Brd
         15/16 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  hearing/vestibular/ear  immune system  limbs/digits/tail 
     mortality/aging  nervous system  renal/urinary system  reproductive system  skeleton 

    SALL4 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SALL4 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Regulation of Wnt-mediated beta catenin signaling and target gene transcription
    		Regulation of Wnt-mediated beta catenin signaling and target gene transcription1.00


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


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SALL4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/52 Interacting proteins for SALL4 (Q9UJQ43 ENSP000002170864) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NANOGQ9H9S03, ENSP000002293074I2D: score=4 STRING: ENSP00000229307
    SALL2Q9Y4673, ENSP000003335374I2D: score=1 STRING: ENSP00000333537
    SMARCB1Q128243, ENSP000002631214I2D: score=1 STRING: ENSP00000263121
    VRTNQ9H8Y13, ENSP000002563624I2D: score=1 STRING: ENSP00000256362
    NR0B1P518433, ENSP000003682534I2D: score=2 STRING: ENSP00000368253
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (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



    Drugs & Compounds
    for SALL4 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SALL4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SALL4
    1 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about SALL4 

    Transcripts
    for SALL4 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
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    8/15 QIAGEN miScript miRNA 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 plasmid: SALL4 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SALL4 (see all 4)
    OriGene shRNA RFP: SALL4
    OriGene siRNA: SALL4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SALL4
    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SALL4
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SALL4

    Additional cDNA sequence: 

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

    3 DOTS entries:

    DT.108738  DT.100725623  DT.120827482 

    24/35 AceView cDNA sequences (see all 35):

    BX479229 AW270757 AA399371 AY170622 AW582834 AA419623 NM_020436 AY172738 
    BX089818 AI334028 CD642385 CD644001 AA601246 CD655292 AY170621 AA401779 
    AK001666 AA872683 CD642332 CD656859 AI632569 AA417660 AI638657 AU132898 

    GeneLoc Exon Structure

    5/6 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

    Expression
    for SALL4 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SALL4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTCAATGGCG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SALL4 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    9 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Early Embryo (Zygote)ZygoteZygoteEarly Embryo
    Early Embryo (Zygote)Morula8-Cell EmbryoEarly Embryo
    Early Embryo (Zygote)MorulaMorula CellsEarly Embryo
    Early Embryo (Zygote)Zygote2-Cell EmbryoEarly Embryo
    Early Embryo (Zygote)Zygote4-Cell EmbryoEarly Embryo
    Inner Cell MassInner Cell MassInner Cell Mass CellsEarly Embryo
    Inner Cell MassInner Cell MassInner Cell Mass CellsEarly Embryo
    LiverIntrahepatic Biliary TreeImmature Biliary Epithelial CellsLiver
    KidneyUreteric BudKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 5 LifeMap Cells 
    NameCategory
    Induced pluripotent stem cells (using UTF1) (Induced Pluripotent Stem Cell)Early Embryo, Fibroblast
    Line H1 (WA01) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Secondary follicles (Primary Cell)Ovary, Reproductive System
    Intermediate mesoderm derivatives (Generation of interm...)
    Definitive endoderm-like cells (A scalable, suspensi...)

    See SALL4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SALL4

    SOURCE GeneReport for Unigene cluster: Hs.517113

    UniProtKB/Swiss-Prot: SALL4_HUMAN, Q9UJQ4
    Tissue specificity: Expressed in testis

        SABiosciences Custom PCR Arrays for SALL4
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    In Situ
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    Orthologs
    for SALL4 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for SALL4 gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SALL41 sal-like 4 (Drosophila) 66.54(n)
    63.73(a)    		   769286  NM_001080872.1  NP_001074341.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SALL46
    		 --
    		 51(a)
    		 1 ↔ 1
    		 GL343226.1(1383234-1391084)
    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
    		 18(a)
    17(a)
    		 many ↔ many
    many ↔ many
    		 2L(11358873-11373637)
    2L(11434311-11445603)
    worm
    (Caenorhabditis elegans)    		 Secernentea sem-46
    		 SEx Muscle abnormal family member (sem-4)
    		 23(a)
    		 1 → many
    		 I(7038897-7048833)


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

    Paralogs
    for SALL4 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SALL4 gene
    SALL32  SALL22  ZNF2362  SALL12  
    14 SIMAP similar genes for SALL4 using alignment to 3 protein entries:     SALL4_HUMAN (see all proteins):
    DKFZp434J0650    HZF16    ZFS-4    ZNF78L1    ZFS-5    ZNF
    kr-znf3    ZNF844    SALL3    ZNF702P    PLAGL1    ZFS-6
    SALL1    A-328A3.4

    SALL4 for paralogs           About GeneDecksing


    5/9 Pseudogenes.org Pseudogenes for SALL4 (see all 9)
    PGOHUM00000248494 PGOHUM00000247817 PGOHUM00000248080 PGOHUM00000249005 PGOHUM00000259289


    Genomic Variants
    for SALL4 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/456 NCBI SNPs in SALL4 are shown (see all 456)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 20 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs743154281,2
    		Cpathogenic50405429(-) GTGGGC/TGAGCT 2 R * stg10--------
    rs743154291,2
    		Cpathogenic50405479(-) GATCCA/GCGAGC 2 H R mis10--------
    rs743154241,2
    		Cpathogenic50407068(-) GCGGTC/TAGATT 2 Q * stg10--------
    rs743154271,2
    		Cpathogenic50407173(-) TTCACC/TGAACC 2 R * stg10--------
    rs743154261,2
    		Cpathogenic50408499(-) AAGGCA/TAAGTG 2 K * stg10--------
    rs1411794401,2
    		--50400087(+) CTCCCC/TTCAAT 1 -- ds50010--------
    rs341055501,2
    		C--50400264(+) AAAAA-/AGTGCC 1 -- ds50011Minor allele frequency- A:0.50NA 2
    rs1503001741,2
    		--50400307(+) CTGTAA/GTCCCA 1 -- ds50010--------
    rs1865261481,2
    		--50400377(+) CAACAG/TGGTGA 1 -- ds50010--------
    rs1378985631,2
    		--50400521(+) GCCACA/TGCACT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for SALL4 (50400581 - 50419059 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SALL4
         1 CNV: 3221
    Human Gene Mutation Database (HGMD): SALL4

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    Disorders / Diseases
    for SALL4 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SALL4 for disorders           About GeneDecksing

    OMIM gene information: 607343   
    OMIM disorders: 607323  147750  
    UniProtKB/Swiss-Prot: SALL4_HUMAN, Q9UJQ4
  • Defects in SALL4 are the cause of Duane-radial ray syndrome (DRRS) [MIM:607323]; also known as Okihiro
    • syndrome. DRRS is a disorder characterized by the association of forearm malformations with Duane retraction syndrome
  • Defects in SALL4 are the cause of oculootoradial syndrome (OORS) [MIM:147750]. Oculootoradial syndrome is an
    • 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

    20/31 diseases for SALL4 (see all 31):    About MalaCards
    duane-radial ray syndrome    acro-renal-ocular syndrome    holt-oram syndrome    wolf-hirschhorn syndrome
    fibrosis of extraocular muscles    duane retraction syndrome    ovarian primitive germ cell tumor    imperforate anus
    congenital fibrosis of the extraocular muscles    ivic syndrome    germ cell tumor    premature ovarian failure
    spermatocytoma    was-related disorders    acute myeloid leukemia    myeloid leukemia
    arthrogryposis    ophthalmoplegia    wilms tumor    teratoma

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

    1 Novoseek 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
    SALL4-Related Disorders

    Human Genome Epidemiology (HuGE) Navigator: SALL4 (4 documents)

    Export disorders for SALL4 gene to outside databases

    Publications
    for SALL4 gene

    (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)
    About This Section

    PubMed articles for SALL4 gene, integrated from 9 sources (see all 68):
    (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. (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. (2002)
    3. IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus. (PubMed id 17256792)1, 2 Paradisi I. and Arias S. (2007)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Okihiro syndrome is caused by SALL4 mutations. (PubMed id 12393809)1, 2 Kohlhase J.... Reardon W. (2002)
    6. A novel SALL4/OCT4 transcriptional feedback network f or pluripotency of embryonic stem cells. (PubMed id 20505821)1, 9 Yang J....Ma Y. (2010)
    7. SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. (PubMed id 16086360)1, 9 Kohlhase J....Rosler B. (2005)
    8. A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation. (PubMed id 16411190)1, 9 Terhal P....Kohlhase J. (2006)
    9. Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum. (PubMed id 15286162)1, 9 Borozdin W....Kohlhase J. (2004)
    10. Diagnostic utility of CD117, CD133, SALL4, OCT4, TCL1 and glypican-3 in malignant germ cell tumors of the ovary. (PubMed id 22448662)1 Trinh D.T....Kikkawa F. (2012)

    External Searches for SALL4 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SALL4 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57167 HGNC: 15924 AceView: SALL4 Ensembl:ENSG00000101115 euGenes: HUgn57167
    ECgene: SALL4 H-InvDB: SALL4

    Other Databases showing SALL4 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SALL4 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SALL4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SALL4

    Intellectual Property
    for SALL4 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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