Version 5.4
Homo sapiens Protein: ZNF469
Summary
InnateDB Protein IDBP-381641.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ZNF469
Protein Name zinc finger protein 469
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000402343
InnateDB Gene IDBG-306881 (ZNF469)
Protein Structure
UniProt Annotation
Function May be involved in transcriptional regulation.
Subcellular Localization Nucleus {ECO:0000305}.
Disease Associations Brittle cornea syndrome 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). {ECO:0000269PubMed:18452888}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Detected in cornea, sclera, skin fibroblasts and striated muscle. {ECO:0000269PubMed:18452888}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0046872 metal ion binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
Cellular Component
GO:0005634 nucleus
Protein Structure and Domains
PDB ID
InterPro IPR007087 Zinc finger, C2H2
IPR015880 Zinc finger, C2H2-like
IPR026939 At2g23090 like
PFAM PF00096
PRINTS
PIRSF
SMART SM00355
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q96JG9
PhosphoSite PhosphoSite-Q96JG9
TrEMBL
UniProt Splice Variant
Entrez Gene 84627
UniGene Hs.54925
RefSeq NP_001120936
HUGO HGNC:23216
OMIM 612078
CCDS CCDS45544
HPRD
IMGT
EMBL AB058761 AC135049
GenPept BAB47487

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca