Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - O43623 (SNAI2_HUMAN)

Protein

Zinc finger protein SNAI2

Gene

SNAI2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.By similarity6 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri128 – 150C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri159 – 181C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri185 – 207C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri213 – 235C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri241 – 264C2H2-type 5; atypicalPROSITE-ProRule annotationAdd BLAST24

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDevelopmental protein, DNA-binding, Repressor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-8943724 Regulation of PTEN gene transcription
SIGNORiO43623

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger protein SNAI2
Alternative name(s):
Neural crest transcription factor Slug
Protein snail homolog 2
Gene namesi
Name:SNAI2
Synonyms:SLUG, SLUGH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000019549.8
HGNCiHGNC:11094 SNAI2
MIMi602150 gene
neXtProtiNX_O43623

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Waardenburg syndrome 2D (WS2D)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionWS2 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.
See also OMIM:608890
Piebald trait (PBT)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes.
See also OMIM:172800

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi87S → A: Increases protein stability. Does not affect repressor activity on E-cadherin/CDH1 promoter. 1 Publication1
Mutagenesisi92S → A: Increases protein stability, nuclear accumulation and repressor activity on E-cadherin/CDH1 promoter; when associated with A-96. 1 Publication1
Mutagenesisi96S → A: Increases protein stability, nuclear accumulation and repressor activity on E-cadherin/CDH1 promoter; when associated with A-92. 1 Publication1
Mutagenesisi100S → A: Increases protein stability and half-life, nuclear accumulation and repressor activity on E-cadherin/CDH1 promoter; when associated with A-104. 1 Publication1
Mutagenesisi104S → A: Increases protein stability and half-life, nuclear accumulation and repressor activity on E-cadherin/CDH1 promoter; when associated with A-100. 1 Publication1
Mutagenesisi166K → E: Abolishes binding to KPNA2, KPNB1 and IPO7 and impairs binding to TMPO1; when associated with E-175. 1 Publication1
Mutagenesisi175K → E: Abolishes binding to KPNA2, KPNB1 and IPO7 and impairs binding to TMPO1; when associated with E-166. 1 Publication1
Mutagenesisi192K → E: Abolishes binding to KPNA2 and impairs binding to KPNB1, IPO7 and TMPO1; when associated with E-196. 1 Publication1
Mutagenesisi196R → E: Abolishes binding to KPNA2 and impairs binding to KPNB1, IPO7 and TMPO1; when associated with E-192. 1 Publication1
Mutagenesisi225R → E: Abolishes binding to KPNA2, KPNB1 and IPO7 and impairs binding to TMPO1; when associated with E-229. 1 Publication1
Mutagenesisi229R → E: Abolishes binding to KPNA2, KPNB1 and IPO7 and impairs binding to TMPO1; when associated with E-225. 1 Publication1

Keywords - Diseasei

Deafness, Waardenburg syndrome

Organism-specific databases

DisGeNETi6591
MalaCardsiSNAI2
MIMi172800 phenotype
608890 phenotype
OpenTargetsiENSG00000019549
Orphaneti2884 Piebaldism
895 Waardenburg syndrome type 2
PharmGKBiPA35945

Polymorphism and mutation databases

BioMutaiSNAI2

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000470321 – 268Zinc finger protein SNAI2Add BLAST268

Post-translational modificationi

GSK3B-mediated phosphorylation results in cytoplasmic localization and degradation.1 Publication

Proteomic databases

EPDiO43623
PaxDbiO43623
PeptideAtlasiO43623
PRIDEiO43623
ProteomicsDBi49085

PTM databases

iPTMnetiO43623
PhosphoSitePlusiO43623

Expressioni

Tissue specificityi

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).4 Publications

Gene expression databases

BgeeiENSG00000019549 Expressed in 205 organ(s), highest expression level in tibia
CleanExiHS_SNAI2
ExpressionAtlasiO43623 baseline and differential
GenevisibleiO43623 HS

Organism-specific databases

HPAiCAB011671

Interactioni

Subunit structurei

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.By similarity1 Publication

Binary interactionsi

Protein-protein interaction databases

BioGridi112476, 23 interactors
IntActiO43623, 5 interactors
STRINGi9606.ENSP00000020945

Structurei

3D structure databases

ProteinModelPortaliO43623
SMRiO43623
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 20SNAG domainBy similarityAdd BLAST20

Domaini

Repression activity depends on the C-terminal DNA-binding zinc fingers and on the N-terminal repression domain.

Sequence similaritiesi

Belongs to the snail C2H2-type zinc-finger protein family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri128 – 150C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri159 – 181C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri185 – 207C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri213 – 235C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri241 – 264C2H2-type 5; atypicalPROSITE-ProRule annotationAdd BLAST24

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG2462 Eukaryota
ENOG41106JS LUCA
GeneTreeiENSGT00390000011027
HOGENOMiHOG000261665
HOVERGENiHBG007477
InParanoidiO43623
KOiK05706
OMAiVIPQPEV
OrthoDBiEOG091G0Q0V
PhylomeDBiO43623
TreeFamiTF315515

Family and domain databases

InterProiView protein in InterPro
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF00096 zf-C2H2, 5 hits
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 5 hits
SUPFAMiSSF57667 SSF57667, 4 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 4 hits
PS50157 ZINC_FINGER_C2H2_2, 5 hits

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

O43623-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MPRSFLVKKH FNASKKPNYS ELDTHTVIIS PYLYESYSMP VIPQPEILSS 
        60         70         80         90        100
GAYSPITVWT TAAPFHAQLP NGLSPLSGYS SSLGRVSPPP PSDTSSKDHS 
       110        120        130        140        150
GSESPISDEE ERLQSKLSDP HAIEAEKFQC NLCNKTYSTF SGLAKHKQLH 
       160        170        180        190        200
CDAQSRKSFS CKYCDKEYVS LGALKMHIRT HTLPCVCKIC GKAFSRPWLL 
       210        220        230        240        250
QGHIRTHTGE KPFSCPHCNR AFADRSNLRA HLQTHSDVKK YQCKNCSKTF 
       260 
SRMSLLHKHE ESGCCVAH
Length:268
Mass (Da):29,986
Last modified:June 1, 1998 - v1
Checksum:i63F068C8E6B275D4
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1X7SC17A0A1X7SC17_HUMAN
Zinc finger protein SNAI2
SNAI2
89Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti126E → K in BAD97088 (Ref. 5) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06916331P → T. Corresponds to variant dbSNP:rs11544360Ensembl.1
Natural variantiVAR_009873119D → E in a patient with neural tube defects. 1 PublicationCorresponds to variant dbSNP:rs748917911Ensembl.1
Natural variantiVAR_069164234T → I. Corresponds to variant dbSNP:rs13280993Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF042001 Genomic DNA Translation: AAC34288.1
AF084243 Genomic DNA Translation: AAD55240.1
AK312661 mRNA Translation: BAG35543.1
AK223368 mRNA Translation: BAD97088.1
CH471068 Genomic DNA Translation: EAW86700.1
BC014890 mRNA Translation: AAH14890.1
BC015895 mRNA Translation: AAH15895.1
CCDSiCCDS6146.1
RefSeqiNP_003059.1, NM_003068.4
UniGeneiHs.360174

Genome annotation databases

EnsembliENST00000020945; ENSP00000020945; ENSG00000019549
ENST00000642303; ENSP00000494171; ENSG00000019549
GeneIDi6591
KEGGihsa:6591
UCSCiuc003xqp.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF042001 Genomic DNA Translation: AAC34288.1
AF084243 Genomic DNA Translation: AAD55240.1
AK312661 mRNA Translation: BAG35543.1
AK223368 mRNA Translation: BAD97088.1
CH471068 Genomic DNA Translation: EAW86700.1
BC014890 mRNA Translation: AAH14890.1
BC015895 mRNA Translation: AAH15895.1
CCDSiCCDS6146.1
RefSeqiNP_003059.1, NM_003068.4
UniGeneiHs.360174

3D structure databases

ProteinModelPortaliO43623
SMRiO43623
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112476, 23 interactors
IntActiO43623, 5 interactors
STRINGi9606.ENSP00000020945

PTM databases

iPTMnetiO43623
PhosphoSitePlusiO43623

Polymorphism and mutation databases

BioMutaiSNAI2

Proteomic databases

EPDiO43623
PaxDbiO43623
PeptideAtlasiO43623
PRIDEiO43623
ProteomicsDBi49085

Protocols and materials databases

DNASUi6591
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000020945; ENSP00000020945; ENSG00000019549
ENST00000642303; ENSP00000494171; ENSG00000019549
GeneIDi6591
KEGGihsa:6591
UCSCiuc003xqp.5 human

Organism-specific databases

CTDi6591
DisGeNETi6591
EuPathDBiHostDB:ENSG00000019549.8
GeneCardsiSNAI2
H-InvDBiHIX0007497
HGNCiHGNC:11094 SNAI2
HPAiCAB011671
MalaCardsiSNAI2
MIMi172800 phenotype
602150 gene
608890 phenotype
neXtProtiNX_O43623
OpenTargetsiENSG00000019549
Orphaneti2884 Piebaldism
895 Waardenburg syndrome type 2
PharmGKBiPA35945
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2462 Eukaryota
ENOG41106JS LUCA
GeneTreeiENSGT00390000011027
HOGENOMiHOG000261665
HOVERGENiHBG007477
InParanoidiO43623
KOiK05706
OMAiVIPQPEV
OrthoDBiEOG091G0Q0V
PhylomeDBiO43623
TreeFamiTF315515

Enzyme and pathway databases

ReactomeiR-HSA-8943724 Regulation of PTEN gene transcription
SIGNORiO43623

Miscellaneous databases

GeneWikiiSNAI2
GenomeRNAii6591
PROiPR:O43623
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000019549 Expressed in 205 organ(s), highest expression level in tibia
CleanExiHS_SNAI2
ExpressionAtlasiO43623 baseline and differential
GenevisibleiO43623 HS

Family and domain databases

InterProiView protein in InterPro
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF00096 zf-C2H2, 5 hits
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 5 hits
SUPFAMiSSF57667 SSF57667, 4 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 4 hits
PS50157 ZINC_FINGER_C2H2_2, 5 hits
ProtoNetiSearch...

Entry informationi

Entry nameiSNAI2_HUMAN
AccessioniPrimary (citable) accession number: O43623
Secondary accession number(s): B2R6P6, Q53FC1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: June 1, 1998
Last modified: October 10, 2018
This is version 185 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again