Gene: SNAI2

Basic information

Tag Content
Uniprot ID O43623; B2R6P6; Q53FC1;
Entrez ID 6591
Genbank protein ID BAD97088.1; EAW86700.1; BAG35543.1; AAH15895.1; AAC34288.1; AAH14890.1; AAD55240.1;
Genbank nucleotide ID NM_003068.4
Ensembl protein ID ENSP00000020945
Ensembl nucleotide ID ENSG00000019549
Gene name Zinc finger protein SNAI2
Gene symbol SNAI2
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description 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.
Sequence
MPRSFLVKKH FNASKKPNYS ELDTHTVIIS PYLYESYSMP VIPQPEILSS GAYSPITVWT 60
TAAPFHAQLP NGLSPLSGYS SSLGRVSPPP PSDTSSKDHS GSESPISDEE ERLQSKLSDP 120
HAIEAEKFQC NLCNKTYSTF SGLAKHKQLH CDAQSRKSFS CKYCDKEYVS LGALKMHIRT 180
HTLPCVCKIC GKAFSRPWLL QGHIRTHTGE KPFSCPHCNR AFADRSNLRA HLQTHSDVKK 240
YQCKNCSKTF SRMSLLHKHE ESGCCVAH 268

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologSNAI2520631Q3MHQ4Bos taurusPredictionMore>>
1:1 orthologSNAI2F1PTM6Canis lupus familiarisPredictionMore>>
1:1 orthologSNAI2102178744A0A452FYL7Capra hircusPredictionMore>>
1:1 orthologSNAI2100050060F6R5C0Equus caballusPredictionMore>>
1:1 orthologSNAI26591O43623Homo sapiensPredictionMore>>
1:1 orthologSnai220583P97469CPOMus musculusPublicationMore>>
1:1 orthologSNAI2464169H2QW52Pan troglodytesPredictionMore>>
1:1 orthologSNAI2102162332A0A287A115Sus scrofaPredictionMore>>
1:1 orthologSNAI2100346095G1T2X3Oryctolagus cuniculusPredictionMore>>
1:1 orthologSnai225554O08954Rattus norvegicusPredictionMore>>
1:1 orthologsnai2494038Q5PQY5Danio rerioPredictionMore>>

Other genetic variants/mutations

loading...

Disease or phenotype associated information

loading...

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA bindingIDA
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specificIDA
GO:0003677 DNA bindingIBA
GO:0003682 chromatin bindingIEA
GO:0003700 DNA-binding transcription factor activityIBA
GO:0005515 protein bindingIPI
GO:0043565 sequence-specific DNA bindingIDA
GO:0046872 metal ion bindingIEA
GO:0070888 E-box bindingIDA

GO:Biological Process

GO ID GO Term Evidence
GO:0000122 negative regulation of transcription by RNA polymerase IIIDA
GO:0000122 negative regulation of transcription by RNA polymerase IIIMP
GO:0001649 osteoblast differentiationIEP
GO:0001837 epithelial to mesenchymal transitionIMP
GO:0003180 aortic valve morphogenesisTAS
GO:0003198 epithelial to mesenchymal transition involved in endocardial cushion formationISS
GO:0003198 epithelial to mesenchymal transition involved in endocardial cushion formationTAS
GO:0003273 cell migration involved in endocardial cushion formationISS
GO:0006355 regulation of transcription, DNA-templatedIBA
GO:0006933 negative regulation of cell adhesion involved in substrate-bound cell migrationIEA
GO:0007219 Notch signaling pathwayIMP
GO:0007605 sensory perception of soundIMP
GO:0010839 negative regulation of keratinocyte proliferationIDA
GO:0010957 negative regulation of vitamin D biosynthetic processIDA
GO:0014032 neural crest cell developmentIMP
GO:0030335 positive regulation of cell migrationIMP
GO:0032331 negative regulation of chondrocyte differentiationIMP
GO:0032642 regulation of chemokine productionIMP
GO:0033629 negative regulation of cell adhesion mediated by integrinIC
GO:0035066 positive regulation of histone acetylationIEA
GO:0035921 desmosome disassemblyIMP
GO:0043473 pigmentationIMP
GO:0043518 negative regulation of DNA damage response, signal transduction by p53 class mediatorIMP
GO:0045600 positive regulation of fat cell differentiationIEA
GO:0045667 regulation of osteoblast differentiationIMP
GO:0050872 white fat cell differentiationIEA
GO:0060021 roof of mouth developmentIEA
GO:0060429 epithelium developmentISS
GO:0060536 cartilage morphogenesisIEA
GO:0060693 regulation of branching involved in salivary gland morphogenesisIEA
GO:0061314 Notch signaling involved in heart developmentTAS
GO:0070563 negative regulation of vitamin D receptor signaling pathwayIDA
GO:0071364 cellular response to epidermal growth factor stimulusIDA
GO:0071479 cellular response to ionizing radiationIEA
GO:0090090 negative regulation of canonical Wnt signaling pathwayIDA
GO:0090090 negative regulation of canonical Wnt signaling pathwayIMP
GO:1900387 negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoterIMP
GO:1902230 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damageIMP
GO:2000647 negative regulation of stem cell proliferationIEA
GO:2000810 regulation of bicellular tight junction assemblyIMP
GO:2000811 negative regulation of anoikisIMP
GO:2001240 negative regulation of extrinsic apoptotic signaling pathway in absence of ligandISS

GO:Cellular Component

GO ID GO Term Evidence
GO:0000790 nuclear chromatinIDA
GO:0005634 nucleusIDA
GO:0005634 nucleusIBA
GO:0005654 nucleoplasmTAS
GO:0005737 cytoplasmIEA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-1257604 PIP3 activates AKT signalingIEA
R-HSA-1257604 PIP3 activates AKT signalingTAS
R-HSA-162582 Signal TransductionIEA
R-HSA-162582 Signal TransductionTAS
R-HSA-6807070 PTEN RegulationIEA
R-HSA-6807070 PTEN RegulationTAS
R-HSA-8943724 Regulation of PTEN gene transcriptionIEA
R-HSA-8943724 Regulation of PTEN gene transcriptionTAS
R-HSA-9006925 Intracellular signaling by second messengersIEA
R-HSA-9006925 Intracellular signaling by second messengersTAS

Drugs and compounds information

loading...

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0963 Cytoplasm
KW-0209 Deafness
KW-0217 Developmental protein
KW-0238 DNA-binding
KW-0479 Metal-binding
KW-0539 Nucleus
KW-0621 Polymorphism
KW-1185 Reference proteome
KW-0677 Repeat
KW-0678 Repressor
KW-0804 Transcription
KW-0805 Transcription regulation
KW-0897 Waardenburg syndrome
KW-0862 Zinc
KW-0863 Zinc-finger

Interpro

InterPro ID InterPro Term
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type

PROSITE

PROSITE ID PROSITE Term
PS00028 ZINC_FINGER_C2H2_1
PS50157 ZINC_FINGER_C2H2_2

Pfam

Pfam ID Pfam Term
PF00096 zf-C2H2

Protein-protein interaction

Protein-miRNA interaction