GeneID: 185


Common Name: SALL2 Type: Gene
Chromosome: 14 (NC_000014.9) Locus: NG_051069.1 (SALL2)
HUGO Symbol: SALL2 Full Name: spalt like transcription factor 2
Exons: 2 Introns: 1

SALL2 belongs to the family of spalt-like genes, which encode transcription factors containing multiple C2H2 zinc finger domains distributed over the entire protein. It plays a role in neuronal development via interaction with neurotrophin receptors. It functions in optical fissure closure during eye development in the embryo. It is considered a tumour suppressor gene. It was first identified in mice as a binding target of the large T antigen of polyoma virus, an interaction which suppresses SALL2 activity and promotes viral DNA replication and tumour induction. It maps to a chromosomal region that is frequently affected in ovarian cancer. It increases the promoter activity of p16 and p21 (cyclin-dependent kinase inhibitors), as well as BAX (apoptosis regulator) genes to negatively regulate cell proliferation and inhibit tumour growth. It is involved in normal haematopoiesis, as well as in the entry of fibroblasts into cellular quiescence. The consensus sequence for optimal binding in vitro is GGG(T/C)GGG, placing SALL2 among a large group of GC box-binding proteins including the Sp1 family of transcription factors. It contains a highly-conserved 12-amino acid peptide motif in the N-terminus that recruits the nucleosome remodeling and deacetylase corepressor complex (NuRD), which possesses HDAC activity, to mediate repression of target genes. This motif is also found in the transcription factor BCL11A, a master repressor of fetal haemoglobin (HbF). Polymoprhisms in SALL2 associated with higher HbF response to hydroxyurea treatment. SALL2 exists in two isoforms that differ only in their N-terminus, and are generated by alternative usage of 5’exons (exon 1 or exon 1A) through two distinct promoters, P1 (distal promoter) and P2 (proximal promoter).

Synonyms: COLB , HSAL2 , Sal-2 , ZNF795 , p150(Sal2)


Sequence Viewer

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Publications / Origin

  1. Ma Y, Li D, Chai L, Luciani AM, Ford D, Morgan J, Maizel AL, Cloning and characterization of two promoters for the human HSAL2 gene and their transcriptional repression by the Wilms tumor suppressor gene product., J. Biol. Chem. , 276(51), 48223-30, 2001 PubMed
  2. Lauberth SM, Rauchman M, A conserved 12-amino acid motif in Sall1 recruits the nucleosome remodeling and deacetylase corepressor complex., J. Biol. Chem. , 281(33), 23922-31, 2006 PubMed
  3. Pincheira R, Baerwald M, Dunbar JD, Donner DB, Sall2 is a novel p75NTR-interacting protein that links NGF signalling to cell cycle progression and neurite outgrowth., EMBO J. , 28(3), 261-73, 2009 PubMed
  4. de Celis JF, Barrio R, Regulation and function of Spalt proteins during animal development., Int. J. Dev. Biol. , 53(8), 1385-98, 2009 PubMed
  5. Gu H, Li D, Sung CK, Yim H, Troke P, Benjamin T, DNA-binding and regulatory properties of the transcription factor and putative tumor suppressor p150(Sal2)., Biochim. Biophys. Acta , 1809(4), 276-83, 2011 PubMed
  6. Chai L, The role of HSAL (SALL) genes in proliferation and differentiation in normal hematopoiesis and leukemogenesis., Transfusion , 51(0), 87S-93S, 2011 PubMed
  7. Farkas C, Martins CP, Escobar D, Hepp MI, Castro AF, Evan G, Gutiérrez JL, Warren R, Donner DB, Pincheira R, Wild type p53 transcriptionally represses the SALL2 transcription factor under genotoxic stress., PLoS ONE , 8(9), e73817, 2013 PubMed
  8. Kelberman D, Islam L, Lakowski J, Bacchelli C, Chanudet E, Lescai F, Patel A, Stupka E, Buck A, Wolf S, Beales PL, Jacques TS, Bitner-Glindzicz M, Liasis A, Lehmann OJ, Kohlhase J, Nischal KK, Sowden JC, Mutation of SALL2 causes recessive ocular coloboma in humans and mice., Hum. Mol. Genet. , 23(10), 2511-26, 2014 PubMed
  9. Sheehan VA, Crosby JR, Sabo A, Mortier NA, Howard TA, Muzny DM, Dugan-Perez S, Aygun B, Nottage KA, Boerwinkle E, Gibbs RA, Ware RE, Flanagan JM, Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia., PLoS ONE , 9(10), e110740, 2014 PubMed
  10. Wu Z, Cheng K, Shi L, Li Z, Negi H, Gao G, Kamle S, Li D, Sal-like protein 2 upregulates p16 expression through a proximal promoter element., Cancer Sci. , 106(3), 253-61, 2015 PubMed
Created on 2016-10-17 15:08:41, Last reviewed on (Show full history)

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