SALL4

Sal-like 4 (Drosophila)
Identifiers
Symbols	SALL4; DRRS; HSAL4; ZNF797; dJ1112F19.1
External IDs	OMIM: 607343 MGI: 2139360 HomoloGene: 10716 GeneCards: SALL4 Gene
Gene Ontology Molecular function • DNA binding • zinc ion binding • metal ion binding Cellular component • heterochromatin • nucleus • protein complex Biological process • negative regulation of transcription from RNA polymerase II promoter • inner cell mass cell proliferation • neural tube closure • ventricular septum development • transcription, DNA-dependent • embryonic limb morphogenesis • positive regulation of transcription from RNA polymerase II promoter Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	57167	99377
Ensembl	ENSG00000101115	ENSMUSG00000027547
UniProt	Q9UJQ4	Q8BX22
RefSeq (mRNA)	NM_020436	NM_175303
RefSeq (protein)	NP_065169	NP_780512
Location (UCSC)	Chr 20: 50.4 – 50.42 Mb	Chr 2: 168.75 – 168.77 Mb
PubMed search	[1]	[2]

Sal-like protein 4 is a protein that in humans is encoded by the SALL4 gene.

Sal-like genes encode putative zinc finger transcription factors. For background information on SALL genes, see SALL1 (MIM 602218).[supplied by OMIM]

It can be associated with Duane-radial ray syndrome.

External links

• GeneReviews/NCBI/NIH/UW entry on SALL4-Related Disorders

Further reading

• Sweetman D, Münsterberg A (2006). "The vertebrate spalt genes in development and disease.". Dev. Biol. 293 (2): 285–93. doi:10.1016/j.ydbio.2006.02.009. PMID 16545361. 
• Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20.". Nature 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052. 
• Kohlhase J, Heinrich M, Schubert L, et al. (2003). "Okihiro syndrome is caused by SALL4 mutations.". Hum. Mol. Genet. 11 (23): 2979–87. doi:10.1093/hmg/11.23.2979. PMID 12393809. 
• Al-Baradie R, Yamada K, St Hilaire C, et al. (2003). "Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.". Am. J. Hum. Genet. 71 (5): 1195–9. doi:10.1086/343821. PMC 385096. PMID 12395297. 
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. 
• Kohlhase J, Schubert L, Liebers M, et al. (2003). "Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.". J. Med. Genet. 40 (7): 473–8. doi:10.1136/jmg.40.7.473. PMC 1735528. PMID 12843316. 
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. 
• Borozdin W, Wright MJ, Hennekam RC, et al. (2004). "Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum.". J. Med. Genet. 41 (8): e102. doi:10.1136/jmg.2004.019505. PMC 1735876. PMID 15286162. 
• Kohlhase J, Holmes LB (2005). "Mutations in SALL4 in malformed father and daughter postulated previously due to reflect mutagenesis by thalidomide.". Birth Defects Res. Part a Clin. Mol. Teratol. 70 (8): 550–1. doi:10.1002/bdra.20050. PMID 15329836. 
• Borozdin W, Boehm D, Leipoldt M, et al. (2005). "SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.". J. Med. Genet. 41 (9): e113. doi:10.1136/jmg.2004.019901. PMC 1735888. PMID 15342710. 
• Wabbels BK, Lorenz B, Kohlhase J (2005). "No evidence of SALL4-mutations in isolated sporadic duane retraction "syndrome" (DURS).". Am. J. Med. Genet. A 131 (2): 216–8. doi:10.1002/ajmg.a.30321. PMID 15386473. 
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. 
• Kohlhase J, Chitayat D, Kotzot D, et al. (2006). "SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.". Hum. Mutat. 26 (3): 176–83. doi:10.1002/humu.20215. PMID 16086360. 
• Miertus J, Borozdin W, Frecer V, et al. (2007). "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.". Hum. Genet. 119 (1-2): 154–61. doi:10.1007/s00439-005-0124-7. PMID 16402211. 
• Terhal P, Rösler B, Kohlhase J (2006). "A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation.". Am. J. Med. Genet. A 140 (3): 222–6. doi:10.1002/ajmg.a.31060. PMID 16411190. 
• Ma Y, Cui W, Yang J, et al. (2006). "SALL4, a novel oncogene, is constitutively expressed in human acute myeloid leukemia (AML) and induces AML in transgenic mice.". Blood 108 (8): 2726–35. doi:10.1182/blood-2006-02-001594. PMC 1895586. PMID 16763212. 
• Paradisi I, Arias S (2007). "IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus.". Am. J. Med. Genet. A 143 (4): 326–32. doi:10.1002/ajmg.a.31603. PMID 17256792. 
• Habano W, Sugai T, Jiao YF, Nakamura S (2007). "Novel approach for detecting global epigenetic alterations associated with tumor cell aneuploidy.". Int. J. Cancer 121 (7): 1487–93. doi:10.1002/ijc.22847. PMID 17546590. 
• Yang J, Chai L, Liu F, et al. (2007). "Bmi-1 is a target gene for SALL4 in hematopoietic and leukemic cells.". Proc. Natl. Acad. Sci. U.S.A. 104 (25): 10494–9. doi:10.1073/pnas.0704001104. PMC 1965541. PMID 17557835.