This gene encodes a member of the Snail family of C2H2-type zinc finger transcription factors. The encoded protein acts as a transcriptional repressor that binds to E-box motifs and is also likely to repress E-cadherin transcription in breast carcinoma. This protein is involved in epithelial-mesenchymal transitions and has antiapoptotic activity. Mutations in this gene may be a... See more...

Aliases for SNAI2 Gene

Aliases for SNAI2 Gene

  • Snail Family Transcriptional Repressor 2 2 3 5
  • SLUGH 2 3 4
  • Snail Family Zinc Finger 2 2 3
  • Zinc Finger Protein SNAI2 3 4
  • Protein Snail Homolog 2 3 4
  • SLUGH1 2 3
  • SNAIL2 2 3
  • SLUG 3 4
  • Slug Homolog, Zinc Finger Protein (Chicken) 2
  • Slug (Chicken Homolog), Zinc Finger Protein 3
  • Neural Crest Transcription Factor SLUG 3
  • Neural Crest Transcription Factor Slug 4
  • Snail Homolog 2 (Drosophila) 2
  • Snail Homolog 2 3
  • SNAI2 5
  • WS2D 3

External Ids for SNAI2 Gene

Previous HGNC Symbols for SNAI2 Gene

  • SLUG

Previous GeneCards Identifiers for SNAI2 Gene

  • GC08M049834
  • GC08M049553
  • GC08M049880
  • GC08M049992
  • GC08M045294
  • GC08M049830

Summaries for SNAI2 Gene

Entrez Gene Summary for SNAI2 Gene

  • This gene encodes a member of the Snail family of C2H2-type zinc finger transcription factors. The encoded protein acts as a transcriptional repressor that binds to E-box motifs and is also likely to repress E-cadherin transcription in breast carcinoma. This protein is involved in epithelial-mesenchymal transitions and has antiapoptotic activity. Mutations in this gene may be associated with sporatic cases of neural tube defects. [provided by RefSeq, Jul 2008]

GeneCards Summary for SNAI2 Gene

SNAI2 (Snail Family Transcriptional Repressor 2) is a Protein Coding gene. Diseases associated with SNAI2 include Waardenburg Syndrome, Type 2D and Piebald Trait. Among its related pathways are Regulation of Wnt-mediated beta catenin signaling and target gene transcription and Neural Crest Differentiation. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific. An important paralog of this gene is SNAI1.

UniProtKB/Swiss-Prot Summary for SNAI2 Gene

  • Transcriptional repressor that modulates both activator-dependent and basal transcription. Involved in the generation and migration of neural crest cells. Plays a role in mediating RAF1-induced transcriptional repression of the TJ protein, occludin (OCLN) and subsequent oncogenic transformation of epithelial cells (By similarity). Represses BRCA2 expression by binding to its E2-box-containing silencer and recruiting CTBP1 and HDAC1 in breast cells. In epidermal keratinocytes, binds to the E-box in ITGA3 promoter and represses its transcription. Involved in the regulation of ITGB1 and ITGB4 expression and cell adhesion and proliferation in epidermal keratinocytes. Binds to E-box2 domain of BSG and activates its expression during TGFB1-induced epithelial-mesenchymal transition (EMT) in hepatocytes. Represses E-Cadherin/CDH1 transcription via E-box elements. Involved in osteoblast maturation. Binds to RUNX2 and SOC9 promoters and may act as a positive and negative transcription regulator, respectively, in osteoblasts. Binds to CXCL12 promoter via E-box regions in mesenchymal stem cells and osteoblasts. Plays an essential role in TWIST1-induced EMT and its ability to promote invasion and metastasis.

Gene Wiki entry for SNAI2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SNAI2 Gene

Genomics for SNAI2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SNAI2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SNAI2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SNAI2

Top Transcription factor binding sites by QIAGEN in the SNAI2 gene promoter:
  • AREB6
  • C/EBPalpha
  • CREB
  • deltaCREB
  • MyoD
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • SEF-1 (1)

Genomic Locations for SNAI2 Gene

Genomic Locations for SNAI2 Gene
chr8:48,917,598-48,921,740
(GRCh38/hg38)
Size:
4,143 bases
Orientation:
Minus strand
chr8:49,830,236-49,834,299
(GRCh37/hg19)
Size:
4,064 bases
Orientation:
Minus strand

Genomic View for SNAI2 Gene

Genes around SNAI2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNAI2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNAI2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNAI2 Gene

Proteins for SNAI2 Gene

  • Protein details for SNAI2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43623-SNAI2_HUMAN
    Recommended name:
    Zinc finger protein SNAI2
    Protein Accession:
    O43623
    Secondary Accessions:
    • B2R6P6
    • Q53FC1

    Protein attributes for SNAI2 Gene

    Size:
    268 amino acids
    Molecular mass:
    29986 Da
    Quaternary structure:
    • Interacts (via SNAG domain) with LIMD1 (via LIM domains), WTIP (via LIM domains) and AJUBA (via LIM domains) (By similarity). Interacts (via zinc fingers) with KPNA2, KPNB1, and TNPO1. May interact (via zinc fingers) with IPO7.

neXtProt entry for SNAI2 Gene

Post-translational modifications for SNAI2 Gene

  • GSK3B-mediated phosphorylation results in cytoplasmic localization and degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SNAI2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for SNAI2

No data available for DME Specific Peptides for SNAI2 Gene

Domains & Families for SNAI2 Gene

Gene Families for SNAI2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for SNAI2 Gene

InterPro:
Blocks:
  • C2H2-type zinc finger signature
ProtoNet:

Suggested Antigen Peptide Sequences for SNAI2 Gene

GenScript: Design optimal peptide antigens:
  • Protein snail homolog 2 (SNAI2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43623

UniProtKB/Swiss-Prot:

SNAI2_HUMAN :
  • Repression activity depends on the C-terminal DNA-binding zinc fingers and on the N-terminal repression domain.
  • Belongs to the snail C2H2-type zinc-finger protein family.
Domain:
  • Repression activity depends on the C-terminal DNA-binding zinc fingers and on the N-terminal repression domain.
Family:
  • Belongs to the snail C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with SNAI2: view

Function for SNAI2 Gene

Molecular function for SNAI2 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor that modulates both activator-dependent and basal transcription. Involved in the generation and migration of neural crest cells. Plays a role in mediating RAF1-induced transcriptional repression of the TJ protein, occludin (OCLN) and subsequent oncogenic transformation of epithelial cells (By similarity). Represses BRCA2 expression by binding to its E2-box-containing silencer and recruiting CTBP1 and HDAC1 in breast cells. In epidermal keratinocytes, binds to the E-box in ITGA3 promoter and represses its transcription. Involved in the regulation of ITGB1 and ITGB4 expression and cell adhesion and proliferation in epidermal keratinocytes. Binds to E-box2 domain of BSG and activates its expression during TGFB1-induced epithelial-mesenchymal transition (EMT) in hepatocytes. Represses E-Cadherin/CDH1 transcription via E-box elements. Involved in osteoblast maturation. Binds to RUNX2 and SOC9 promoters and may act as a positive and negative transcription regulator, respectively, in osteoblasts. Binds to CXCL12 promoter via E-box regions in mesenchymal stem cells and osteoblasts. Plays an essential role in TWIST1-induced EMT and its ability to promote invasion and metastasis.

Phenotypes From GWAS Catalog for SNAI2 Gene

Gene Ontology (GO) - Molecular Function for SNAI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 11912130
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IEA --
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IEA,IDA 10866665
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IBA 21873635
genes like me logo Genes that share ontologies with SNAI2: view
genes like me logo Genes that share phenotypes with SNAI2: view

Human Phenotype Ontology for SNAI2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SNAI2 Gene

MGI Knock Outs for SNAI2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SNAI2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SNAI2 Gene

Localization for SNAI2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNAI2 Gene

Nucleus. Cytoplasm. Note=Observed in discrete foci in interphase nuclei. These nuclear foci do not overlap with the nucleoli, the SP100 and the HP1 heterochromatin or the coiled body, suggesting SNAI2 is associated with active transcription or active splicing regions.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SNAI2 gene
Compartment Confidence
nucleus 5
plasma membrane 3
extracellular 3
cytoskeleton 3
cytosol 3
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SNAI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 16707493
GO:0005634 nucleus IBA,IDA 10866665
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with SNAI2: view

Pathways & Interactions for SNAI2 Gene

genes like me logo Genes that share pathways with SNAI2: view

Pathways by source for SNAI2 Gene

2 Qiagen pathways for SNAI2 Gene
  • Epithelial Adherens Junctions
  • ILK Signaling
1 Cell Signaling Technology pathway for SNAI2 Gene
1 GeneTex pathway for SNAI2 Gene

SIGNOR curated interactions for SNAI2 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SNAI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA,IMP 17984306
GO:0001649 osteoblast differentiation IEP 20128911
GO:0001837 epithelial to mesenchymal transition IMP 9182671
GO:0003180 aortic valve morphogenesis TAS 20951801
GO:0003198 epithelial to mesenchymal transition involved in endocardial cushion formation IEA,TAS 20951801
genes like me logo Genes that share ontologies with SNAI2: view

Drugs & Compounds for SNAI2 Gene

(3) Drugs for SNAI2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for SNAI2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SNAI2: view

Transcripts for SNAI2 Gene

mRNA/cDNA for SNAI2 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SNAI2

Alternative Splicing Database (ASD) splice patterns (SP) for SNAI2 Gene

No ASD Table

Relevant External Links for SNAI2 Gene

GeneLoc Exon Structure for
SNAI2

Expression for SNAI2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SNAI2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SNAI2

SOURCE GeneReport for Unigene cluster for SNAI2 Gene:

Hs.360174

mRNA Expression by UniProt/SwissProt for SNAI2 Gene:

O43623-SNAI2_HUMAN
Tissue specificity: Expressed in most adult human tissues, including spleen, thymus, prostate, testis, ovary, small intestine, colon, heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Not detected in peripheral blood leukocyte. Expressed in the dermis and in all layers of the epidermis, with high levels of expression in the basal layers (at protein level). Expressed in osteoblasts (at protein level). Expressed in mesenchymal stem cells (at protein level). Expressed in breast tumor cells (at protein level).

Evidence on tissue expression from TISSUES for SNAI2 Gene

  • Skin(4.7)
  • Heart(3.4)
  • Intestine(3.3)
  • Kidney(3.2)
  • Lung(3.2)
  • Liver(3.2)
  • Muscle(3.1)
  • Lymph node(3.1)
  • Spleen(3)
  • Pancreas(2.9)
  • Nervous system(2.9)
  • Bone marrow(2.7)
  • Blood(2.5)
  • Stomach(2.5)
  • Eye(2.4)
  • Thyroid gland(2.2)
  • Bone(2.1)
  • Adrenal gland(2)
  • Gall bladder(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SNAI2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • nose
  • skull
Thorax:
  • chest wall
  • rib
  • rib cage
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
General:
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with SNAI2: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for SNAI2 Gene

Orthologs for SNAI2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SNAI2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SNAI2 30 31
  • 99.88 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SNAI2 31
  • 95 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia SNAI2 30 31
  • 94.78 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SNAI2 31
  • 94 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Snai2 30 17 31
  • 90.05 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Snai2 30
  • 90.05 (n)
Cow
(Bos Taurus)
Mammalia SNAI2 30 31
  • 87.81 (n)
OneToOne
Chicken
(Gallus gallus)
Aves SNAI2 30 31
  • 85.7 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SNAI2 31
  • 93 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia snai2 30
  • 79.32 (n)
slug 30
African clawed frog
(Xenopus laevis)
Amphibia snai2-A-prov 30
Zebrafish
(Danio rerio)
Actinopterygii snai2 30 31
  • 72.4 (n)
OneToOne
idibd5003 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG17181 32
  • 50 (a)
sna 31 32
  • 31 (a)
ManyToMany
esg 31 32
  • 29 (a)
ManyToMany
wor 31 32
  • 24 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea K02D7.2 30 31 32
  • 56.19 (n)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8617 31
  • 50 (a)
OneToMany
Species where no ortholog for SNAI2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SNAI2 Gene

ENSEMBL:
Gene Tree for SNAI2 (if available)
TreeFam:
Gene Tree for SNAI2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SNAI2: view image

Paralogs for SNAI2 Gene

genes like me logo Genes that share paralogs with SNAI2: view

Variants for SNAI2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SNAI2 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
666922 Uncertain Significance: not specified 48,919,950(-) C/T MISSENSE_VARIANT
681165 Likely Benign: not provided 48,920,428(-) C/T SYNONYMOUS_VARIANT
708042 Likely Benign: Partial albinism; not provided 48,920,156(-) G/A MISSENSE_VARIANT
716553 Likely Benign: not provided 48,920,260(-) A/G SYNONYMOUS_VARIANT
778395 Likely Benign: not provided 48,920,375(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SNAI2 Gene

Variation tolerance for SNAI2 Gene

Residual Variation Intolerance Score: 35.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.54; 11.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SNAI2 Gene

Human Gene Mutation Database (HGMD)
SNAI2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNAI2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SNAI2 Gene

Disorders for SNAI2 Gene

MalaCards: The human disease database

(35) MalaCards diseases for SNAI2 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
waardenburg syndrome, type 2d
  • ws2d
piebald trait
  • albinoidism, oculocutaneous, autosomal dominant
waardenburg syndrome, type 2e
  • ws2
waardenburg's syndrome
  • waardenburg syndrome, type 4a
neural tube defects
  • neural tube defects, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search SNAI2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SNAI2_HUMAN
  • Waardenburg syndrome 2D (WS2D) [MIM:608890]: WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1. {ECO:0000269 PubMed:12444107}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Piebald trait (PBT) [MIM:172800]: Autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes. {ECO:0000269 PubMed:12955764}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SNAI2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SNAI2: view

No data available for Genatlas for SNAI2 Gene

Publications for SNAI2 Gene

  1. Slug regulates integrin expression and cell proliferation in human epidermal keratinocytes. (PMID: 16707493) Turner FE … Hotchin NA (The Journal of biological chemistry 2006) 3 4 23
  2. SLUG (SNAI2) deletions in patients with Waardenburg disease. (PMID: 12444107) Sánchez-Martín M … Sánchez-García I (Human molecular genetics 2002) 3 4 23
  3. The SLUG zinc-finger protein represses E-cadherin in breast cancer. (PMID: 11912130) Hajra KM … Fearon ER (Cancer research 2002) 3 4 23
  4. Human SLUG gene organization, expression, and chromosome map location on 8q. (PMID: 9721220) Cohen ME … Jabs EW (Genomics 1998) 2 3 4
  5. Localization of a neural crest transcription factor, Slug, to mouse chromosome 16 and human chromosome 8. (PMID: 9337409) Rhim H … Pavan WJ (Mammalian genome : official journal of the International Mammalian Genome Society 1997) 2 3 23

Products for SNAI2 Gene

  • Signalway Proteins for SNAI2

Sources for SNAI2 Gene