ID:ZN469_HUMAN DESCRIPTION: RecName: Full=Zinc finger protein 469; FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus (Potential). TISSUE SPECIFICITY: Detected in cornea, sclera, skin fibroblasts and striated muscle. DISEASE: Defects in ZNF469 are the cause of brittle cornea syndrome type 1 (BCS1) [MIM:229200]. A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints. It shares some features with, but is much less severe than, the ocular form of Ehlers-Danlos syndrome (EDS6). SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein family. SIMILARITY: Contains 5 C2H2-type zinc fingers.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): ZNF469 CDC HuGE Published Literature: ZNF469
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96JG9
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary