ZNF408 Chromosome 11
Zinc finger protein 408
Upload your DNA to see your personal genotypes for variants in ZNF408.
What This Gene Does
The protein encoded by this gene contains ten tandem zinc fingers and an N-terminal SET domain, so it is likely a DNA binding protein that interacts with other proteins. In adults, the encoded protein is expressed most highly in retina. Consequently, defects in this gene have been associated with familial exudative vitreoretinopathy (FEVR) and retinitis pigmentosa (RP). [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
"Zinc fingers C2H2-type|PR/SET domain family|Putative lysine methyltransferases"
Locus Type
gene with protein product
Location
11p11.2
Ensembl
ENSG00000175213
Associated Conditions (6)
Inborn genetic diseases
Retinal dystrophy
Exudative vitreoretinopathy 6
Familial exudative vitreoretinopathy
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 72
Key Variants
RS1240113334
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138519217
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150368802
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS371633363
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS536561101
Conflicting classifications of pathogenicity
Exudative vitreoretinopathy 6, Retinal dystrophy, Exudative vitreoretinopathy 6
Health Risk
RS747305214
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS764632543
Conflicting classifications of pathogenicity
Inborn genetic diseases, Retinal dystrophy, Inborn genetic diseases
Health Risk
RS774627405
Conflicting classifications of pathogenicity
Health Risk
RS776097939
Conflicting classifications of pathogenicity
Health Risk
RS1160126418
Likely pathogenic
Retinal dystrophy, Retinal dystrophy
Health Risk
RS1384722572
Likely pathogenic
Retinal dystrophy, Retinal dystrophy
Health Risk
RS1565695139
Likely pathogenic
Exudative vitreoretinopathy 6, Exudative vitreoretinopathy 6
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1240113334 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS138519217 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS150368802 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS371633363 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS536561101 | Health Risk | Conflicting classifications of pathogenicity | Exudative vitreoretinopathy 6, Retinal dystrophy, Exudative vitreoretinopathy 6 |
| RS747305214 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS764632543 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Retinal dystrophy, Inborn genetic diseases |
| RS774627405 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS776097939 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1160126418 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1384722572 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1565695139 | Health Risk | Likely pathogenic | Exudative vitreoretinopathy 6, Exudative vitreoretinopathy 6 |
| RS2134505106 | Health Risk | Likely pathogenic | — |
| RS1425566595 | Health Risk | Pathogenic | Familial exudative vitreoretinopathy, Familial exudative vitreoretinopathy |
| RS2064733634 | Health Risk | Pathogenic | Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa |
| RS875989821 | Health Risk | Pathogenic | Retinitis pigmentosa 72, Retinitis pigmentosa 72 |
| RS373273223 | Health Risk | Pathogenic/Likely pathogenic | Exudative vitreoretinopathy 6, Retinal dystrophy, Exudative vitreoretinopathy 6 |
| RS781192528 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 72, Retinal dystrophy, Exudative vitreoretinopathy 6 |