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

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; AllianceGenome:HGNC:11094
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: mouse all
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Genomic context

Location:: 8q11.21

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (48917598..48921429, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (49295468..49299299, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (49830157..49833988, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The deubiquitinase USP7 and E3 ligase TRIM21 regulate vasculogenic mimicry and malignant progression of RMS by balancing SNAI2 homeostasis.
Title: The deubiquitinase USP7 and E3 ligase TRIM21 regulate vasculogenic mimicry and malignant progression of RMS by balancing SNAI2 homeostasis.
Downregulation of miR-95 in gastric cancer promotes EMT via regulation of Slug, thereby promoting migration and invasion.
Title: Downregulation of miR-95 in gastric cancer promotes EMT via regulation of Slug, thereby promoting migration and invasion.
Hsa_circ_0001707 regulates endothelial-mesenchymal transition in esophageal squamous cell carcinoma via miR-203a-3p/Snail2 pathway.
Title: Hsa_circ_0001707 regulates endothelial-mesenchymal transition in esophageal squamous cell carcinoma via miR-203a-3p/Snail2 pathway.
SNAI2 promotes the malignant transformation of oral leukoplakia by modulating p-EMT.
Title: SNAI2 promotes the malignant transformation of oral leukoplakia by modulating p-EMT.
Liver X receptor alpha ensures blood-brain barrier function by suppressing SNAI2.
Title: Liver X receptor alpha ensures blood-brain barrier function by suppressing SNAI2.
A SNAI2/CTCF Interaction is Required for NOTCH1 Expression in Rhabdomyosarcoma.
Title: A SNAI2/CTCF Interaction is Required for NOTCH1 Expression in Rhabdomyosarcoma.
Specific intracellular retention of circSKA3 promotes colorectal cancer metastasis by attenuating ubiquitination and degradation of SLUG.
Title: Specific intracellular retention of circSKA3 promotes colorectal cancer metastasis by attenuating ubiquitination and degradation of SLUG.
FSCN1 and epithelial mesenchymal transformation transcription factor expression in human pancreatic intraepithelial neoplasia and ductal adenocarcinoma.
Title: FSCN1 and epithelial mesenchymal transformation transcription factor expression in human pancreatic intraepithelial neoplasia and ductal adenocarcinoma.
ZNF451 favors triple-negative breast cancer progression by enhancing SLUG-mediated CCL5 transcriptional expression.
Title: ZNF451 favors triple-negative breast cancer progression by enhancing SLUG-mediated CCL5 transcriptional expression.
PAK5 potentiates slug transactivation of N-cadherin to facilitate metastasis of renal cell carcinoma.
Title: PAK5 potentiates slug transactivation of N-cadherin to facilitate metastasis of renal cell carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (380)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SNAI2__6869 (e-PCR)
- UniSTS:466463

Snai2 (e-PCR), detects polymorphism
- UniSTS:516413

RH102835 (e-PCR)
- UniSTS:97169

SHGC-110054 (e-PCR)
- UniSTS:170210

RH48259 (e-PCR)
- UniSTS:12284

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables E-box binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in Notch signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in Notch signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in aortic valve morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in cartilage morphogenesis	IEA Inferred from Electronic Annotation more info
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 cellular response to ionizing radiation	IEA Inferred from Electronic Annotation more info
involved_in chromatin organization	IEA Inferred from Electronic Annotation more info
involved_in desmosome disassembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endothelial cell migration	IEA Inferred from Electronic Annotation more info
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 hematopoietic stem cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in myeloid cell apoptotic process	IEA Inferred from Electronic Annotation more info
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
involved_in negative regulation of cell adhesion involved in substrate-bound cell migration	IEA Inferred from Electronic Annotation more info
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 hematopoietic stem cell proliferation	IEA Inferred from Electronic Annotation more info
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 myeloid cell apoptotic process	IEA Inferred from Electronic Annotation more info
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 positive regulation of fat cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of bicellular tight junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of branching involved in salivary gland morphogenesis	IEA Inferred from Electronic Annotation more info
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 roof of mouth development	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in white fat cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of 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

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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

NG_012130.1 RefSeqGene

Range

5001..8832

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1359

mRNA and Protein(s)

NM_003068.5 → NP_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

B2R6P6, O43623, Q53FC1

Related

ENSP00000020945.1, ENST00000020945.4

Conserved Domains (5) summary

COG5189
Location:101 → 182

SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

sd00017
Location:187 → 207

ZF_C2H2; C2H2 Zn finger [structural motif]

sd00019
Location:130 → 150

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:213 → 235

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:200 → 223

zf-H2C2_2; Zinc-finger double domain