SNAI2 - Zinc finger protein SNAI2 - human protein (Medical)
 
Home Recent activites arrow-down favorite My favorites arrow-down favorite My labels arrow-down Downloads
Back to ...  
Publication View
Protein
Gene
References

 
SNAI2 »  Zinc finger protein SNAI2
 
Protein also known as:  Neural crest transcription factor Slug.
Gene name:  SNAI2
Entry whose protein(s) existence is based on evidence at protein level
extend overview
1 131 1
GENE REF ISO

Displayed isoform: Iso 1

 
 

Medical

 show evidences
Disease 
Waardenburg syndrome 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. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Piebald trait (PBT) [MIM:172800]: Autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Piebaldism  2884  
Waardenburg syndrome type 2  895  
 

Keywords

Disease 
Deafness  definition   [KW-0209]
Waardenburg syndrome  definition   [KW-0897]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

CTD: 6591
MIM: 608890
MIM: 172800
PharmGKB: PA35945
Any 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.