ZNF408 (zinc finger protein 408)

2014-11-01  

Identity

HGNC
LOCATION
11p11.2
LOCUSID
ALIAS
EVR6,RP72
FUSION GENES

Other Information

Locus ID:

NCBI: 79797
MIM: 616454
HGNC: 20041
Ensembl: ENSG00000175213

Variants:

dbSNP: 79797
ClinVar: 79797
TCGA: ENSG00000175213
COSMIC: ZNF408

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000175213ENST00000311764Q9H9D4

Expression (GTEx)

0
5
10
15
20

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
376840152023Genetic and clinical characteristics of ZNF408-related familial exudative vitreoretinopathy.0
376840152023Genetic and clinical characteristics of ZNF408-related familial exudative vitreoretinopathy.0
297219472018Whole-Exome Sequencing Identifies Novel Variants that Co-segregates with Autosomal Recessive Retinal Degeneration in a Pakistani Pedigree.0
299824782018An FEVR-associated mutation in ZNF408 alters the expression of genes involved in the development of vasculature.5
300977842018The characteristics of digenic familial exudative vitreoretinopathy.12
297219472018Whole-Exome Sequencing Identifies Novel Variants that Co-segregates with Autosomal Recessive Retinal Degeneration in a Pakistani Pedigree.0
299824782018An FEVR-associated mutation in ZNF408 alters the expression of genes involved in the development of vasculature.5
300977842018The characteristics of digenic familial exudative vitreoretinopathy.12
280951222017Exome sequencing confirms ZNF408 mutations as a cause of familial retinitis pigmentosa.4
280951222017Exome sequencing confirms ZNF408 mutations as a cause of familial retinitis pigmentosa.4
273166692016Mutation spectrum of the FZD-4, TSPAN12 AND ZNF408 genes in Indian FEVR patients.13
273166692016Mutation spectrum of the FZD-4, TSPAN12 AND ZNF408 genes in Indian FEVR patients.13
258827052015Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.23
258827052015Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.23
237166542013ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature.72

Citation

Dessen P

ZNF408 (zinc finger protein 408)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/76138/znf408-(zinc-finger-protein-408)