SNAI2 (SNAIL HOMOLOG 2)

2004-04-01   Manuel Sánchez-Martín , Ines González-Herrero , Isidro Sánchez-García 

Laboratorio 13, Instituto de Biologia Molecular y Celular del Cancer (IBMCC), Centro de Investigacion del Cancer, Campus Unamuno, 37.007-Salamanca, Spain

Identity

HGNC
LOCATION
8q11.21
IMAGE
Atlas Image
LOCUSID
ALIAS
SLUG,SLUGH,SLUGH1,SNAIL2,WS2D

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.

Proteins

Atlas Image

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).

    Bibliography

    Pubmed IDLast YearTitleAuthors
    97212201998Human SLUG gene organization, expression, and chromosome map location on 8q.Cohen ME et al
    119121302002The SLUG zinc-finger protein represses E-cadherin in breast cancer.Hajra KM et al
    123988922002Slug, a highly conserved zinc finger transcriptional repressor, protects hematopoietic progenitor cells from radiation-induced apoptosis in vivo.Inoue A et al
    105182151999SLUG, a ces-1-related zinc finger transcription factor gene with antiapoptotic activity, is a downstream target of the E2A-HLF oncoprotein.Inukai T et al
    75134431994Control of cell behavior during vertebrate development by Slug, a zinc finger gene.Nieto MA et al
    128331432003The radioresistance biological function of the SCF/kit signaling pathway is mediated by the zinc-finger transcription factor Slug.Pérez-Losada J et al
    91651291997Slug, 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 et al
    129557642003Deletion of the SLUG (SNAI2) gene results in human piebaldism.Sánchez-Martín M et al
    96715841998Conserved and divergent roles for members of the Snail family of transcription factors in the chick and mouse embryo.Sefton M et al
    104797231999Human 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 et al

    Other Information

    Locus ID:

    NCBI: 6591
    MIM: 602150
    HGNC: 11094
    Ensembl: ENSG00000019549

    Variants:

    dbSNP: 6591
    ClinVar: 6591
    TCGA: ENSG00000019549
    COSMIC: SNAI2

    RNA/Proteins

    Gene IDTranscript IDUniprot
    ENSG00000019549ENST00000020945O43623
    ENSG00000019549ENST00000396822A0A1X7SC17

    Expression (GTEx)

    0
    50
    100
    150
    200
    250

    Pathways

    PathwaySourceExternal ID
    Adherens junctionKEGGko04520
    Adherens junctionKEGGhsa04520
    Hippo signaling pathwayKEGGhsa04390
    Hippo signaling pathwayKEGGko04390

    Protein levels (Protein atlas)

    Not detected
    Low
    Medium
    High

    References

    Pubmed IDYearTitleCitations
    223859652012Slug and Sox9 cooperatively determine the mammary stem cell state.376
    119121302002The SLUG zinc-finger protein represses E-cadherin in breast cancer.337
    161694652005The transcriptional repressor Snail promotes mammary tumor recurrence.266
    179843062007Jagged1-mediated Notch activation induces epithelial-to-mesenchymal transition through Slug-induced repression of E-cadherin.173
    187996182008Snail and Slug promote epithelial-mesenchymal transition through beta-catenin-T-cell factor-4-dependent expression of transforming growth factor-beta3.165
    234109732013Integrated analyses identify a master microRNA regulatory network for the mesenchymal subtype in serous ovarian cancer.151
    194486272009p53 controls cancer cell invasion by inducing the MDM2-mediated degradation of Slug.149
    198214822009Comprehensive analysis of the independent effect of twist and snail in promoting metastasis of hepatocellular carcinoma.139
    211998052011Snail2 is an essential mediator of Twist1-induced epithelial mesenchymal transition and metastasis.139
    186631432008Slug is a direct Notch target required for initiation of cardiac cushion cellularization.121

    Citation

    Manuel Sánchez-Martín ; Ines González-Herrero ; Isidro Sánchez-García

    SNAI2 (SNAIL HOMOLOG 2)

    Atlas Genet Cytogenet Oncol Haematol. 2004-04-01

    Online version: http://atlasgeneticsoncology.org/gene/453/snai2