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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
Physical map
JPH3 16q24.3 junctophilin 3 DKFZp434G0522 16q24.3 hypothetical protein DKFZp434G0522 SLC7A5 16q24.3 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 CA5A 16q24.3 carbonic anhydrase VA, mitochondrial BANP 16q24 carbonic anhydrase VA, mitochondrial LOC388306 16 LOC388306 LOC390747 16 similar to proline rich protein ZNF469 16q24 zinc finger protein 469 ZFPM1 16q24.3 zinc finger protein, multitype 1 LOC124245 16q24.3 hypothetical protein BC001584 IL17C 16q24 interleukin 17C CYBA 16q24.2 cytochrome b-245, alpha polypeptide MVD 16q24.2 mevalonate (diphospho) decarboxylase SNAI3 16q24.3 snail homolog 3 (Drosophila) MGC2647 16q24.3 hypothetical zinc finger protein MGC2647 LOC388307 16 similar to LOC348180 protein LOC348180 16q24.3 hypothetical protein LOC348180 KIAA0233 16q24.3 hypothetical protein LOC348180 FLJ40448 16q24.3 hypothetical protein FLJ40448 CDT1 16q24.3 DNA replication factor APRT 16q24.3 adenine phosphoribosyltransferase GALNS 16q24.2 galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA) LOC51693 16q24.3 unknown LOC390748 16 similar to putative polyA-binding protein PABPN2/ePABP2 CBFA2T3 16q24.3 core-binding factor, runt domain, alpha subunit 2; translocated to, 3 LOC390749 16 LOC390749 LOC197322 16q24.3 hypothetical protein LOC197322 FLJ36701 16q24.3 hypothetical protein FLJ36701 CDH15 16q24.3 cadherin 15, M-cadherin (myotubule) LOC388308 16 similar to Brain-type organic cation transporter FLJ31875 16q24.3 hypothetical protein FLJ31875
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