SNAI2 (SNAIL HOMOLOG 2)

Identity

Other names	SLUG
	SLUGH
	Neural Crest Transcription Factor SLUG
HGNC	SNAI2
Location	8q11.21

DNA/RNA

Description	SNAI2 is a neurogenic transcription factor belonging to the SNAIL family implicated in the epithelial-mesenchymal transition and cell survival, in important morphogenetic processes during embryo development and in tumor metastasis. The gene has 3 exons (243bp, 546bp,1299bp).
Transcription	Transcript length: 2.2Kb.

Protein

Description	SNAI2 is a zinc-finger transcription factor. Translation length: 268 residues (79bp 1st exon, 546bp 2nd exon, 181bp 3rd exon). Zinc-finger information : Type: C2H2 ; Number of domains: 5. 1st(from residue 128 to 150) 2nd(from residue 159 to 181) 3rd(from residue 185 to 207) 4th(from residue 213 to 235) 5th(from residue 241 to 264)
Expression	Placenta, adult heart, pancreas, liver, kidney and skeletal muscle.
Localisation	Nuclear (probable).
Function	Transcriptional repressor implicated in the epithelial-mesenchymal transition and cell survival.
Homology	The human SLUG protein is 95, 93, and 88% homologous to mouse, chicken, and Xenopus slug, respectively, but it shows only 47% homology to mouse Snail. The zinc finger region is 100% identical between human and mouse Slug.

Implicated in

Note	SNAI2 is a vertebrate gene encoding a zinc finger protein of the Snail family implicated in the epithelial-mesenchymal transition and cell survival. It was identified in the neural crest and in mesodermal cells emigrating from the primitive streak in chick embryos. It is involved in chick limb development and has conserved and divergent roles in the chick and mouse embryo. Human SNAI2 maps to the long arm of chromosome 8 (8q11.21), contains 3 exons and codes for a protein of 268bp (29KDa) with 5 zinc finger regions. This gene has been identified as downstream target of E2A-HLF oncoprotein and its expression is strongly correlated with loss of E-cadherin. SNAI2 contributes to the function of the stem cell factor c-kit signaling pathway and mediates the radioresistance biological function of the SCF/kit. The alterations of this gene have been associated to different human syndromes.
Disease	Missense mutation has been identified in patients with neural tube defects. Deletions of the SNAI2 gene results in human piebaldism, a cancer prone disease, and has been detected in patients with Waardenburg disease. Duplication of SNAI2 gene is implicated in a rare congenital heart disease (data submitted).

External links

	Nomenclature
HGNC	SNAI2   11094
Entrez_Gene	SNAI2  6591  snail homolog 2 (Drosophila)
	Cards
Atlas	SNAI2ID453
GeneCards	SNAI2
Ensembl	SNAI2 [Search_View]   ENSG00000019549 [Gene_View]
Genatlas	SNAI2
GeneLynx	SNAI2
eGenome	SNAI2
euGene	6591
	Genomic and cartography
GoldenPath	SNAI2  -  8q11.21   chr8:49992794-49996541 -  8q11.21   [Description]    (hg18-Mar_2006)
Ensembl	SNAI2 - 8q11.21 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	SNAI2
	Gene and transcription
Genbank	AA410443 [ ENTREZ ]
Genbank	AK223368 [ ENTREZ ]
Genbank	AK312661 [ ENTREZ ]
Genbank	BC014890 [ ENTREZ ]
Genbank	BC015895 [ ENTREZ ]
RefSeq	NM_003068 [ SRS ]    NM_003068 [ ENTREZ ]
RefSeq	AC_000051 [ SRS ]    AC_000051 [ ENTREZ ]
RefSeq	AC_000140 [ SRS ]    AC_000140 [ ENTREZ ]
RefSeq	NC_000008 [ SRS ]    NC_000008 [ ENTREZ ]
RefSeq	NT_008183 [ SRS ]    NT_008183 [ ENTREZ ]
RefSeq	NW_001839132 [ SRS ]    NW_001839132 [ ENTREZ ]
RefSeq	NW_923929 [ SRS ]    NW_923929 [ ENTREZ ]
AceView	SNAI2 AceView - NCBI
Unigene	Hs.360174 [ SRS ]    Hs.360174 [ NCBI ]     HS360174 [ spliceNest ]
Fast-db	5043 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	O00514 [ SRS]    O00514 [ EXPASY ]     O00514 [ INTERPRO ]     O00514 [ UNIPROT ]
CluSTr	O00514
Blocks	O00514
HPRD	03689
	Protein Interaction databases
DIP	O00514
IntAct	O00514
	Polymorphism : SNP, mutations, diseases
OMIM	172800;602150;608890    [ map ]
GENECLINICS	172800;602150;608890
SNP	SNAI2 [dbSNP-NCBI]
SNP	NM_003068 [SNP-NCI]
SNP	SNAI2 [GeneSNPs - Utah]  SNAI2] [HGBASE - SRS]
HAPMAP	SNAI2 [HAPMAP]
COSMIC	SNAI2 [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	SNAI2
	General knowledge
Family Browser	SNAI2 [UCSC Family Browser]
SOURCE	NM_003068
SMD	Hs.360174
SAGE	Hs.360174
GO	negative regulation of transcription from RNA polymerase II promoter [Amigo]  negative regulation of transcription from RNA polymerase II promoter
GO	DNA binding [Amigo]  DNA binding
GO	intracellular [Amigo]  intracellular
GO	nucleus [Amigo]  nucleus
GO	transcription [Amigo]  transcription
GO	regulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GO	multicellular organismal development [Amigo]  multicellular organismal development
GO	ectoderm and mesoderm interaction [Amigo]  ectoderm and mesoderm interaction
GO	sensory perception of sound [Amigo]  sensory perception of sound
GO	zinc ion binding [Amigo]  zinc ion binding
GO	response to radiation [Amigo]  response to radiation
GO	metal ion binding [Amigo]  metal ion binding
KEGG	Adherens junction
PubGene	SNAI2
TreeFam	SNAI2
CTD	6591 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	SNAI2 Related clones (RZPD - Berlin)
	PubMed
PubMed	29 Pubmed reference(s) in LocusLink

Bibliography

Control of cell behavior during vertebrate development by Slug, a zinc finger gene.

Nieto MA, Sargent MG, Wilkinson DG, Cooke J

Science (New York, N.Y.). 1994 ; 264 (5160) : 835-839.

PMID 7513443

Slug, a zinc finger gene previously implicated in the early patterning of the mesoderm and the neural crest, is also involved in chick limb development.

Ros MA, Sefton M, Nieto MA

Development (Cambridge, England). 1997 ; 124 (9) : 1821-1829.

PMID 9165129

Human SLUG gene organization, expression, and chromosome map location on 8q.

Cohen ME, Yin M, Paznekas WA, Schertzer M, Wood S, Jabs EW

Genomics. 1998 ; 51 (3) : 468-471.

PMID 9721220

Conserved and divergent roles for members of the Snail family of transcription factors in the chick and mouse embryo.

Sefton M, Sˆ°nchez S, Nieto MA

Development (Cambridge, England). 1998 ; 125 (16) : 3111-3121.

PMID 9671584

SLUG, a ces-1-related zinc finger transcription factor gene with antiapoptotic activity, is a downstream target of the E2A-HLF oncoprotein.

Inukai T, Inoue A, Kurosawa H, Goi K, Shinjyo T, Ozawa K, Mao M, Inaba T, Look AT

Molecular cell. 1999 ; 4 (3) : 343-352.

PMID 10518215

Human transcription factor SLUG: mutation analysis in patients with neural tube defects and identification of a missense mutation (D119E) in the Slug subfamily-defining region.

Stegmann K, Boecker J, Kosan C, Ermert A, Kunz J, Koch MC

Mutation research. 1999 ; 406 (2-4) : 63-69.

PMID 10479723

The SLUG zinc-finger protein represses E-cadherin in breast cancer.

Hajra KM, Chen DY, Fearon ER

Cancer research. 2002 ; 62 (6) : 1613-1618.

PMID 11912130

Slug, a highly conserved zinc finger transcriptional repressor, protects hematopoietic progenitor cells from radiation-induced apoptosis in vivo.

Inoue A, Seidel MG, Wu W, Kamizono S, Ferrando AA, Bronson RT, Iwasaki H, Akashi K, Morimoto A, Hitzler JK, Pestina TI, Jackson CW, Tanaka R, Chong MJ, McKinnon PJ, Inukai T, Grosveld GC, Look AT

Cancer cell. 2002 ; 2 (4) : 279-288.

PMID 12398892

Zinc-finger transcription factor Slug contributes to the function of the stem cell factor c-kit signaling pathway.

Pˆ©rez-Losada J, Sˆ°nchez-Martˆ‚n M, Rodrˆ‚guez-Garcˆ‚a A, Sˆ°nchez ML, Orfao A, Flores T, Sˆ°nchez-Garcˆ‚a I

Blood. 2002 ; 100 (4) : 1274-1286.

PMID 12149208

SLUG (SNAI2) deletions in patients with Waardenburg disease.

Sˆ°nchez-Martˆ‚n M, Rodrˆ‚guez-Garcˆ‚a A, Pˆ©rez-Losada J, Sagrera A, Read AP, Sˆ°nchez-Garcˆ‚a I

Human molecular genetics. 2002 ; 11 (25) : 3231-3236.

PMID 12444107

The radioresistance biological function of the SCF/kit signaling pathway is mediated by the zinc-finger transcription factor Slug.

Pˆ©rez-Losada J, Sˆ°nchez-Martˆ‚n M, Pˆ©rez-Caro M, Pˆ©rez-Mancera PA, Sˆ°nchez-Garcˆ‚a I

Oncogene. 2003 ; 22 (27) : 4205-4211.

PMID 12833143

Deletion of the SLUG (SNAI2) gene results in human piebaldism.

Sˆ°nchez-Martˆ‚n M, Pˆ©rez-Losada J, Rodrˆ‚guez-Garcˆ‚a A, Gonzˆ°lez-Sˆ°nchez B, Korf BR, Kuster W, Moss C, Spritz RA, Sˆ°nchez-Garcˆ‚a I

American journal of medical genetics. Part A. 2003 ; 122 (2) : 125-132.

PMID 12955764

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	04-2004	Manuel Sánchez-Martìn, Inés González-Herrero, Isidro Sánchez-García

Citation

This paper should be referenced as such :

Sánchez-Martìn M, González-Herrero I, Sánchez-García I . SNAI2 (SNAIL HOMOLOG 2). Atlas Genet Cytogenet Oncol Haematol. April 2004 . URL : http://AtlasGeneticsOncology.org/Genes/SNAI2ID453.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Aug 11 21:17:35 2008