SNAI2

Protein identityUniProt · HPA

UniProt accession

O43623

Gene

SNAI2

Ensembl

ENSG00000019549

Chromosome

8

Canonical length

268 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm,Cytosol

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

268 residues, UniProt reviewed canonical sequence.

>O43623|SNAI2
     1  MPRSFLVKKH FNASKKPNYS ELDTHTVIIS PYLYESYSMP VIPQPEILSS GAYSPITVWT
    61  TAAPFHAQLP NGLSPLSGYS SSLGRVSPPP PSDTSSKDHS GSESPISDEE ERLQSKLSDP
   121  HAIEAEKFQC NLCNKTYSTF SGLAKHKQLH CDAQSRKSFS CKYCDKEYVS LGALKMHIRT
   181  HTLPCVCKIC GKAFSRPWLL QGHIRTHTGE KPFSCPHCNR AFADRSNLRA HLQTHSDVKK
   241  YQCKNCSKTF SRMSLLHKHE ESGCCVAH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SNAI2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.55

Highest tissue expression

45 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SNAI2.

Disease | AllUniProt

Conditions SNAI2 is implicated in, by any mechanism.

• Waardenburg syndrome 2D (WS2D) MIM:608890
• Piebald trait (PBT) MIM:172800

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.49

gnomAD pLI

0.8

gnomAD missense Z

1.15

DepMap mean gene effect

-0.09

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• aortic valve morphogenesis
• cartilage morphogenesis
• cell migration involved in endocardial cushion formation
• cellular response to epidermal growth factor stimulus
• cellular response to ionizing radiation
• chromatin organization
• endothelial cell migration
• epithelial cell migration
• epithelial to mesenchymal transition
• epithelial to mesenchymal transition involved in endocardial cushion formation
• epithelium development
• hematopoietic stem cell proliferation
• myeloid cell apoptotic process
• negative regulation of anoikis
• negative regulation of canonical Wnt signaling pathway
• negative regulation of cell adhesion involved in substrate-bound cell migration
• negative regulation of cell adhesion mediated by integrin
• negative regulation of chondrocyte differentiation
• negative regulation of DNA damage response, signal transduction by p53 class mediator
• negative regulation of extrinsic apoptotic signaling pathway in absence of ligand
• negative regulation of hematopoietic stem cell proliferation
• negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage
• negative regulation of keratinocyte proliferation
• negative regulation of myeloid cell apoptotic process
• negative regulation of transcription by RNA polymerase II
• negative regulation of vitamin D biosynthetic process
• negative regulation of vitamin D receptor signaling pathway
• neural crest cell development
• Notch signaling pathway
• osteoblast differentiation
• pigmentation
• positive regulation of cell migration
• positive regulation of fat cell differentiation
• regulation of bicellular tight junction assembly
• regulation of branching involved in salivary gland morphogenesis
• regulation of chemokine production
• regulation of DNA-templated transcription
• regulation of osteoblast differentiation
• roof of mouth development
• sensory perception of sound
• white fat cell differentiation
• desmosome disassembly

Molecular functions

• chromatin binding
• DNA-binding transcription factor activity, RNA polymerase II-specific
• DNA-binding transcription repressor activity, RNA polymerase II-specific
• E-box binding
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• RNA polymerase II transcription regulatory region sequence-specific DNA binding
• sequence-specific DNA binding
• sequence-specific double-stranded DNA binding
• zinc ion binding

Cellular components

• chromatin
• cytosol
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Zinc finger C2H2-type
• Zinc finger C2H2 superfamily
• Zinc finger, C2H2 type

KeywordsUniProt

• Cytoplasm
• Deafness
• Developmental protein
• DNA-binding
• Metal-binding
• Nucleus
• Repeat
• Repressor
• Transcription
• Transcription regulation
• Ubl conjugation
• Waardenburg syndrome
• Zinc
• Zinc-finger

InteractionsUniProt · HPA

Protein binding partners of SNAI2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TNPO1