Entity Details

Primary name SNAI2
Entity type gene
Source Source Link

Details

PrimaryID6591
RefseqGeneNG_012130
SymbolSNAI2
Namesnail family transcriptional repressor 2
Chromosome8
Location8q11.21
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-07-03
ModificationDate2021-06-20

Ontological Relatives

UniProt IDsSNAI2_HUMAN

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000785 chromatin
GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific
GO:0001649 osteoblast differentiation
GO:0001837 epithelial to mesenchymal transition
GO:0003180 aortic valve morphogenesis
GO:0003198 epithelial to mesenchymal transition involved in endocardial cushion formation
GO:0003273 cell migration involved in endocardial cushion formation
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0006355 regulation of transcription, DNA-templated
GO:0007219 Notch signaling pathway
GO:0007605 sensory perception of sound
GO:0010839 negative regulation of keratinocyte proliferation
GO:0010957 negative regulation of vitamin D biosynthetic process
GO:0014032 neural crest cell development
GO:0030335 positive regulation of cell migration
GO:0032331 negative regulation of chondrocyte differentiation
GO:0032642 regulation of chemokine production
GO:0033629 negative regulation of cell adhesion mediated by integrin
GO:0035921 desmosome disassembly
GO:0043473 pigmentation
GO:0043518 negative regulation of DNA damage response, signal transduction by p53 class mediator
GO:0043565 sequence-specific DNA binding
GO:0045667 regulation of osteoblast differentiation
GO:0046872 metal ion binding
GO:0060429 epithelium development
GO:0061314 Notch signaling involved in heart development
GO:0070563 negative regulation of vitamin D receptor signaling pathway
GO:0070888 E-box binding
GO:0071364 cellular response to epidermal growth factor stimulus
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:1902230 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage
GO:1990837 sequence-specific double-stranded DNA binding
GO:2000810 regulation of bicellular tight junction assembly
GO:2000811 negative regulation of anoikis
GO:2001240 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

Diseases

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Disease IDSourceNameDescription
172800 OMIMPiebald trait (PBT)Autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes. The disease is caused by variants affecting the gene represented in this entry.
608890 OMIMWaardenburg syndrome 2D (WS2D)WS2 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. The disease is caused by variants affecting the gene represented in this entry.