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Aliases & Descriptions for SALL4
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| DRRS 2 | | HSAL4 2, 5 | | MGC133050 2 | | OTTHUMP00000031296 2 | | ZNF797 1, 2 | | dJ1112F19.1 1, 2 |
| | | Descriptions |
|---|
| Zinc finger protein SALL4 3 | | sal (Drosophila)-like 4 1 | | sal-like 4 2 | | sal-like 4 (Drosophila) 2 |
|
| | Search outside databases for aliases for SALL4 genePrevious GC identifers: GC20M050129 GC20M051039 GC20M051086 |
Summaries for SALL4(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene 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] UniProtKB/Swiss-Prot: SALL4_HUMAN, Q9UJQ4Function: Probable transcription factorGene Wiki entry for SALL4 |
Genomic Location for SALL4
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the SALL4 gene 
Entrez Gene cytogenetic band: 20q13.13-q13.2 Ensembl cytogenetic band: 20q13.2 HGNC cytogenetic band: 20q13.2SALL4 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 20 GeneLoc Exon Structure GeneLoc location for GC20M049833:
(about GC identifiers)
Start:
|
49,833,988 bp from pter |
End:
|
49,852,421 bp from pter |
Size:
|
18,434 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000020.9 NT_011362.9
| Proteins for SALL4
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
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: Q540H3Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_065169.1
ENSEMBL proteins: ENSP00000379319 ENSP00000217086 ENSP00000360594
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for SALL4: Assays for SALL4: | Protein
Domains/ Families for SALL4(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q9UJQ4
ProtoNet protein and cluster: Q9UJQ4 UniProtKB/Swiss-Prot: SALL4_HUMAN, Q9UJQ4Similarity: Belongs to the sal C2H2-type zinc-finger protein familySimilarity: Contains 7 C2H2-type zinc fingers | Gene Function for SALL4
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_020436
Applied Biosystems Silencer® siRNAs for SALL4
Sigma-Aldrich siRNA for SALL4  Sigma-Aldrich shRNA for SALL4  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_020436                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_020436                                  untagged cDNA clone in CMV expression vector: NM_020436 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_020436
UniProtKB/Swiss-Prot: SALL4_HUMAN, Q9UJQ4Function: Probable transcription factor15/18 MGI mutant phenotypes (inferred from 10 alleles ) (MGI details for Sall4) (see all 18
):
3 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for SALL4
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 2 Sigma-Aldrich "Your Favorite Gene" Pathways for SALL4 (Your Favorite Gene powered by Ingenuity) 
5/13 Interacting proteins for SALL4 (ENSP000002170863) via UniProtKB, MINT, and/or STRING (see all 13
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006350 | transcription |
IEA | -- | | GO:0006355 | regulation of transcription, DNA-dependent |
IEA | -- | About this table
|
Drugs & Compounds for SALL4(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for SALL4 1 Novoseek chemical compound relationship for SALL4 gene
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| zinc |
37.42 |
2 |
16086360 (1), 16411190 (1) |
About this table
|
Transcripts for SALL4(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_020436
Sigma-Aldrich siRNA for SALL4  Sigma-Aldrich shRNA for SALL4  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_020436 REFSEQ mRNAs for SALL4 gene: NM_020436.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_020436               OriGene GFP tagged cDNA clone in CMV expression vector: NM_020436                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_020436                                  untagged cDNA clone in CMV expression vector: NM_020436  Additional cDNA sequence: AK001666.1 AY170621.1 AY170622.1 AY172738.1 BC111714.1 5 DOTS entries: DT.108738 DT.40255005 DT.100725623 DT.120827482 DT.95148058 24/35 AceView cDNA sequences (see all 35
):NM_020436 AW582834 BX089818 AY170622 AY172738 BX479229 AW270757 AA399371 AA419623 AK001666 CD656859 AI334028 AI968562 AY170621 AI632569 BQ278036 BM557759 CD644001 CD642385 CD655292 BF056751 AA738181 AA601246 CD642332
highest scoring ESTs for SALL4:AI638036 AK001666 AU132898 AY170621 AY170622 AY172738 CD642332 CD642385 CD655292 AA399371 Unigene Cluster for SALL4: Sal-like 4 (Drosophila) Hs.517113 [show with all ESTs]Unigene Representative Sequence: NM_020436
GeneLoc Exon Structure
5/6 Alternative Splicing Database (ASD) splice patterns (SP) for SALL4 (see all 6
)
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | · | 5c | · | 5d | · | 5e | ^ | 6 | ^ | 7a | · | 7b | |
| SP1: | |   | |   | - |   | - |   | - |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | - |   | - |   | - |   | - |   | - |   | - |   | |   | |   | |   | |   | - |   | |   | |   | |   | |
| SP4: | |   | |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for SALL4
3 Ensembl transcripts including schematic representations: ENST00000395997
ENST00000217086
ENST00000371539
|
Expression for SALL4
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| SALL4 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for SALL4
1 / 2 / 3 3 probe-sets matching SALL4 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: CTCAATGGCG
SOURCE GeneReport for Unigene cluster: Hs.517113 UniProtKB/Swiss-Prot: SALL4_HUMAN, Q9UJQ4Tissue specificity: Expressed in testis |
Orthologs for SALL4
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for SALL4 gene from 5/8 species (see all 8
)
About this table Species with no ortholog for SALL4
ENSEMBL Gene Tree for SALL4 | Paralogs for SALL4(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for SALL4 gene
- SALL32 SALL12
Pseudogenes
- 2 related pseudogenes
|
SNPs/Variants for SALL4(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for SALL4 (up to first 250kb)
|
Disorders & Mutations for SALL4
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 607343 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 IVIC syndrome [MIM:147750]. IVIC 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 phenotype1 Novoseek disease relationship for SALL4 gene
About this table
GeneTests: SALL4 SALL4-Related Disorders Human Gene Mutation Database: SALL4 Human Genome Epidemiology Navigator: SALL4 (1 document)
|
Medical News for SALL4(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for SALL4 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/30 PubMed articles for SALL4 gene (see all 30
):- 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, 3, 4 Miertus J.... Kohlhase J. (2006)
- 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, 3, 4 Al-Baradie R.... Engle E.C. (2002)
- IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus. (PubMed id 17256792)3, 4 Paradisi I. and Arias S. (2007)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Okihiro syndrome is caused by SALL4 mutations. (PubMed id 12393809)3, 4 Kohlhase J.... Reardon W. (2002)
- SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. (PubMed id 16086360)1, 3 Kohlhase J....Rosler B. (2005)
- A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation. (PubMed id 16411190)1, 3 Terhal P....Kohlhase J. (2006)
- 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, 3 Borozdin W....Kohlhase J. (2004)
- [Okihiro syndrome : Duane's syndrome and radial malformations of the limbs] (PubMed id 18299846)3 Haus A.H....Seitz B. (2008)
- Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PubMed id 18519826)3 Uhl G.R....Lerman C. (2008)
|
Search for SALL4
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing SALL4
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing SALL4
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SALL4(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=SALL4 |
|
| | | About This Section
| --
| Services for SALL4(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for SALL4:

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