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SNAI2 snail family transcriptional repressor 2 [ Homo sapiens (human) ]

Gene ID: 6591, updated on 20-Jun-2021

Summary

Official Symbol
SNAI2provided by HGNC
Official Full Name
snail family transcriptional repressor 2provided by HGNC
Primary source
HGNC:HGNC:11094
See related
Ensembl:ENSG00000019549 MIM:602150
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SLUG; WS2D; SLUGH; SLUGH1; SNAIL2
Summary
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]
Expression
Ubiquitous expression in endometrium (RPKM 22.8), ovary (RPKM 21.9) and 22 other tissues See more
Orthologs
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Genomic context

See SNAI2 in Genome Data Viewer
Location:
8q11.21
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (48917598..48921429, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (49830157..49833988, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene EF-hand calcium binding domain 1 Neighboring gene uncharacterized LOC105375825 Neighboring gene uncharacterized LOC107986942 Neighboring gene pancreatic progenitor cell differentiation and proliferation factor like

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Partial albinism
MedGen: C0080024 OMIM: 172800 GeneReviews: Not available
Compare labs
Waardenburg syndrome type 2D
MedGen: C1837203 OMIM: 608890 GeneReviews: Not available
Compare labs

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of snail homolog 2 (Drosophila) (SNAI2) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Vpu vpu HIV-1 Vpu leads to the depression of both total and beta-catenin-associated E-cadherin levels through Vpu-induced upregulation of the transcriptional repressor Snail PubMed
vpu HIV-1 Vpu upregulates the expression of Snail in HeLa cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC10182

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in Notch signaling involved in heart development TAS
Traceable Author Statement
more info
PubMed 
involved_in Notch signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in aortic valve morphogenesis TAS
Traceable Author Statement
more info
PubMed 
involved_in cell migration involved in endocardial cushion formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to epidermal growth factor stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in desmosome disassembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in epithelial to mesenchymal transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in epithelial to mesenchymal transition involved in endocardial cushion formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in epithelial to mesenchymal transition involved in endocardial cushion formation TAS
Traceable Author Statement
more info
PubMed 
involved_in epithelium development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in negative regulation of DNA damage response, signal transduction by p53 class mediator IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of anoikis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of canonical Wnt signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of negative regulation of cell adhesion mediated by integrin IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of chondrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of extrinsic apoptotic signaling pathway in absence of ligand ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of keratinocyte proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of vitamin D biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of vitamin D receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in neural crest cell development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in osteoblast differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in pigmentation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of bicellular tight junction assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of chemokine production IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of osteoblast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in chromatin IDA
Inferred from Direct Assay
more info
PubMed 
located_in chromatin IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
zinc finger protein SNAI2
Names
neural crest transcription factor SLUG
protein snail homolog 2
slug (chicken homolog), zinc finger protein
snail family zinc finger 2
snail homolog 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012130.1 RefSeqGene

    Range
    5001..8832
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1359

mRNA and Protein(s)

  1. NM_003068.5NP_003059.1  zinc finger protein SNAI2

    See identical proteins and their annotated locations for NP_003059.1

    Status: REVIEWED

    Source sequence(s)
    AC013701, BC015895, DA522147
    Consensus CDS
    CCDS6146.1
    UniProtKB/Swiss-Prot
    O43623
    Related
    ENSP00000020945.1, ENST00000020945.4
    Conserved Domains (5) summary
    COG5189
    Location:101182
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:187207
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:130150
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:213235
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:200223
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    48917598..48921429 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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