Protein basic information
LiverAtlas Protein ID |
HuLPr45837 |
Uniprot ID |
|
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 |
|
Protein sequence
|
MPRSFLVKKHFNASKKPNYSELDTHTVIISPYLYESYSMP VIPQPEILSSGAYSPITVWTTAAPFHAQLPNGLSPLSGY SSSLGRVSPPPPSDTSSKDHSGSESPISDEEERLQSKLS DPHAIEAEKFQCNLCNKTYSTFSGLAKHKQLHCDAQSRK SFSCKYCDKEYVSLGALKMHIRTHTLPCVCKICGKAFSR PWLLQGHIRTHTGEKPFSCPHCNRAFADRSNLRAHLQTH SDVKKYQCKNCSKTFSRMSLLHKHEESGCCVAH |
Database cross reference |
RefSeq Protein accession:NP_003059
|
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 | |
Pathway name |