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FLASH GENE
Symbol ZNF469 contributors: shn/npt - updated : 09-11-2018
HGNC name zinc finger protein 469
HGNC id 23216
Corresponding disease
BCS Brittle cornea syndrome
Location 16q24.2      Physical location : 88.493.878 - 88.507.165
Synonym symbol(s) KIAA1858
DNA
TYPE functioning gene
STRUCTURE 13.29 kb     2 Exon(s)
MAPPING cloned Y linked N status provisional
Map cen - D16S3123 - D16S2621 - ZNF469 - D16S3023 - D16S3121 - qter
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 13203 - 3925 - -
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Endocrinethyroid    
Lymphoid/Immunelymph node    
Nervousbrain    
Respiratorylung    
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • five zinc finger domains
  • HOMOLOGY
    interspecies ortholog to ZNF469, Pan troglodytes
    ortholog to Znf469_predicted, Rattus norvegicus
    Homologene
    FAMILY
  • Krueppel C2H2-type zinc finger protein family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • may be involved in transcriptional regulation
  • could act as a transcription factor involved in the synthesis and/or organization of collagen fibers (Abu et al, 2008)
  • ZNF469 is a nuclear transcription factor that regulates the synthesis and structure of collagen fibers in the cornea
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule metal binding,
  • ion Zn2+
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BCS
    Susceptibility to central corneal thickness variation and to glaucoma
    Variant & Polymorphism other
  • common variants contribute to central corneal thickness variation and to glaucoma in the general population (Lu 2010)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS