InnateDB Protein
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IDBP-381641.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ZNF469
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Protein Name
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zinc finger protein 469
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000402343
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InnateDB Gene
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IDBG-306881 (ZNF469)
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Protein Structure
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Function |
May be involved in transcriptional regulation.
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Subcellular Localization |
Nucleus {ECO:0000305}.
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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.
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Tissue Specificity |
Detected in cornea, sclera, skin fibroblasts and striated muscle. {ECO:0000269PubMed:18452888}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR007087
Zinc finger, C2H2
IPR015880
Zinc finger, C2H2-like
IPR026939
At2g23090 like
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PFAM |
PF00096
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PRINTS |
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PIRSF |
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SMART |
SM00355
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TIGRFAMs |
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Modification |
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SwissProt |
Q96JG9
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PhosphoSite |
PhosphoSite-Q96JG9
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
84627
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UniGene |
Hs.54925
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RefSeq |
NP_001120936
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HUGO |
HGNC:23216
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OMIM |
612078
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CCDS |
CCDS45544
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HPRD |
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IMGT |
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EMBL |
AB058761
AC135049
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GenPept |
BAB47487
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