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Gene, Transcriptome, Protein, Pathway or Disease. 

Protein basic information

LiverAtlas Protein ID

HuLPr45837

Uniprot ID

SNAI2_HUMAN

Uniprot Acc

O43623;B2R6P6;

Protein name

Zinc finger protein SNAI2

Comment

FUNCTION:Transcriptional repressor. Involved in the generation and migration of neural crest cells.||SUBCELLULAR LOCATION:Nucleus (Probable).||TISSUE SPECIFICITY:Expressed in placenta and adult heart, pancreas, liver, kidney and skeletal muscle.||DISEASE:Defects in SNAI2 are the cause of Waardenburg syndrome type 2D (WS2D) [MIM:608890]. 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.||SIMILARITY:Belongs to the snail C2H2-type zinc-finger protein family.||SIMILARITY:Contains 5 C2H2-type zinc fingers.||WEB RESOURCE:Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/SNAI2ID453.html";

Subcellular localization

Nucleus(Probable).

Gene name

snail homolog 2 (Drosophila)

Protein sequence

MPRSFLVKKHFNASKKPNYSELDTHTVIISPYLYESYSMP VIPQPEILSSGAYSPITVWTTAAPFHAQLPNGLSPLSGY SSSLGRVSPPPPSDTSSKDHSGSESPISDEEERLQSKLS DPHAIEAEKFQCNLCNKTYSTFSGLAKHKQLHCDAQSRK SFSCKYCDKEYVSLGALKMHIRTHTLPCVCKICGKAFSR PWLLQGHIRTHTGEKPFSCPHCNRAFADRSNLRAHLQTH SDVKKYQCKNCSKTFSRMSLLHKHEESGCCVAH

Database cross reference

RefSeq Protein accession:NP_003059
RefSeq Protein gi:11276067

Liver relevance

HLPP validation

Yes/No

Yes

Project name

Human Liver Organelles;

Ontology annotation

GO-C

GO:0005634;C:nucleus;TAS:ProtInc.

GO-F

GO:0003677;F:DNA binding;IEA:UniProtKB-KW. GO:0008270;F:zinc ion binding;IEA:InterPro.

GO-P

GO:0060070;P:canonical Wnt receptor signaling pathway;IMP:UniProtKB. GO:0007499;P:ectoderm and mesoderm interaction;TAS:ProtInc. GO:0007275;P:multicellular organismal development;IEA:UniProtKB-KW. GO:0000122;P:negative regulation of transcription from R

Pathway

Pathway name

Signaling_events_mediated_by_Stem_cell_factor_receptor_(c-Kit)

Pathway name

Direct_p53_effectors

Pathway name

TGF_beta_Receptor