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Aliases for ZNF469 Gene

Aliases for ZNF469 Gene

  • Zinc Finger Protein 469 2 3 5
  • KIAA1858 4
  • BCS1 3
  • BCS 3

External Ids for ZNF469 Gene

Previous GeneCards Identifiers for ZNF469 Gene

  • GC16P087021
  • GC16P088493
  • GC16P074187

Summaries for ZNF469 Gene

Entrez Gene Summary for ZNF469 Gene

  • This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome. [provided by RefSeq, Jul 2008]

GeneCards Summary for ZNF469 Gene

ZNF469 (Zinc Finger Protein 469) is a Protein Coding gene. Diseases associated with ZNF469 include Brittle Cornea Syndrome 1 and Ehlers-Danlos Syndrome, Type Vi.

UniProtKB/Swiss-Prot for ZNF469 Gene

  • May be involved in transcriptional regulation.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZNF469 Gene

Genomics for ZNF469 Gene

Regulatory Elements for ZNF469 Gene

Enhancers for ZNF469 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ZNF469 on UCSC Golden Path with GeneCards custom track

Promoters for ZNF469 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ZNF469 on UCSC Golden Path with GeneCards custom track

Genomic Location for ZNF469 Gene

88,233,015 bp from pter
88,440,757 bp from pter
207,743 bases
Plus strand

Genomic View for ZNF469 Gene

Genes around ZNF469 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF469 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNF469 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF469 Gene

Proteins for ZNF469 Gene

  • Protein details for ZNF469 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Zinc finger protein 469
    Protein Accession:

    Protein attributes for ZNF469 Gene

    3925 amino acids
    Molecular mass:
    410202 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ZNF469 Gene

Proteomics data for ZNF469 Gene at MOPED

Post-translational modifications for ZNF469 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZNF469 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ZNF469 Gene

Domains & Families for ZNF469 Gene

Gene Families for ZNF469 Gene

Protein Domains for ZNF469 Gene


Suggested Antigen Peptide Sequences for ZNF469 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the krueppel C2H2-type zinc-finger protein family.
  • Contains 5 C2H2-type zinc fingers.
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
  • Contains 5 C2H2-type zinc fingers.
genes like me logo Genes that share domains with ZNF469: view

Function for ZNF469 Gene

Molecular function for ZNF469 Gene

UniProtKB/Swiss-Prot Function:
May be involved in transcriptional regulation.

Phenotypes for ZNF469 Gene

genes like me logo Genes that share phenotypes with ZNF469: view

Human Phenotype Ontology for ZNF469 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ZNF469 Gene

Localization for ZNF469 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF469 Gene

Subcellular locations from

Jensen Localization Image for ZNF469 Gene COMPARTMENTS Subcellular localization image for ZNF469 gene
Compartment Confidence
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components for ZNF469 Gene

Pathways & Interactions for ZNF469 Gene

SuperPathways for ZNF469 Gene

No Data Available

Interacting Proteins for ZNF469 Gene

Gene Ontology (GO) - Biological Process for ZNF469 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with ZNF469: view

No data available for Pathways by source and SIGNOR curated interactions for ZNF469 Gene

Drugs & Compounds for ZNF469 Gene

No Compound Related Data Available

Transcripts for ZNF469 Gene

mRNA/cDNA for ZNF469 Gene

(4) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ZNF469 Gene

Zinc finger protein 469:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ZNF469 Gene

No ASD Table

Relevant External Links for ZNF469 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ZNF469 Gene

mRNA expression in normal human tissues for ZNF469 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ZNF469 Gene

This gene is overexpressed in Serum (18.2), Spinal cord (11.0), Stomach (9.4), Heart (8.3), and Salivary gland (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ZNF469 Gene

SOURCE GeneReport for Unigene cluster for ZNF469 Gene Hs.54925

mRNA Expression by UniProt/SwissProt for ZNF469 Gene

Tissue specificity: Detected in cornea, sclera, skin fibroblasts and striated muscle.
genes like me logo Genes that share expression patterns with ZNF469: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for ZNF469 Gene

Orthologs for ZNF469 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZNF469 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia ZNF469 35
  • 72.23 (n)
  • 59.98 (a)
ZNF469 36
  • 58 (a)
(Canis familiaris)
Mammalia ZNF469 35
  • 71.37 (n)
  • 58.4 (a)
ZNF469 36
  • 66 (a)
(Mus musculus)
Mammalia Gm22 35
  • 65.62 (n)
  • 52.08 (a)
Gm22 16
Gm22 36
  • 55 (a)
(Pan troglodytes)
Mammalia ZNF469 35
  • 98.25 (n)
  • 97.12 (a)
ZNF469 36
  • 97 (a)
(Rattus norvegicus)
Mammalia Zfp469 35
  • 65.19 (n)
  • 51.78 (a)
(Monodelphis domestica)
Mammalia ZNF469 36
  • 35 (a)
(Ornithorhynchus anatinus)
Mammalia ZNF469 36
  • 34 (a)
(Gallus gallus)
Aves ZNF469 36
  • 27 (a)
(Anolis carolinensis)
Reptilia ZNF469 36
  • 26 (a)
Species with no ortholog for ZNF469:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ZNF469 Gene

Gene Tree for ZNF469 (if available)
Gene Tree for ZNF469 (if available)

Paralogs for ZNF469 Gene

No data available for Paralogs for ZNF469 Gene

Variants for ZNF469 Gene

Sequence variations from dbSNP and Humsavar for ZNF469 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs11640794 - 88,428,568(+) CCGAG(A/C/T)CCCTT reference, missense
rs7197071 - 88,431,038(+) GCCCC(A/G)AGTGT reference, missense
rs4782300 - 88,431,813(+) GCCAC(C/T)GACCT reference, missense
rs13334190 - 88,433,940(+) CTGCA(A/G)GGACC reference, missense
rs12598474 - 88,434,626(+) AGACC(C/G)GGCGC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ZNF469 Gene

Variant ID Type Subtype PubMed ID
nsv471111 CNV Loss 18288195
dgv2965n71 CNV Gain 21882294
nsv528456 CNV Loss 19592680
nsv907223 CNV Loss 21882294
dgv2966n71 CNV Loss 21882294
nsv907226 CNV Loss 21882294
dgv2967n71 CNV Gain 21882294
dgv2968n71 CNV Loss 21882294
dgv2969n71 CNV Gain 21882294
dgv2970n71 CNV Loss 21882294
dgv171n21 CNV Loss 19592680
dgv2971n71 CNV Loss 21882294
dgv921e1 CNV Complex 17122850
nsv471112 CNV Gain 18288195
nsv907251 CNV Loss 21882294
nsv907253 CNV Loss 21882294
dgv2972n71 CNV Loss 21882294
nsv907255 CNV Loss 21882294
nsv827828 CNV Gain 20364138
nsv827829 CNV Gain 20364138

Variation tolerance for ZNF469 Gene

Gene Damage Index Score: 12.25; 94.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZNF469 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNF469 Gene

Disorders for ZNF469 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ZNF469 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
brittle cornea syndrome 1
  • corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility
ehlers-danlos syndrome, type vi
  • type vi ehlers-danlos syndrome
keratoconus 1
  • ktcn1
  • conical cornea
refractive error
  • refractive errors
- elite association - COSMIC cancer census association via MalaCards


  • 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:0000269 PubMed:18452888}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ZNF469

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ZNF469: view

No data available for Genatlas for ZNF469 Gene

Publications for ZNF469 Gene

  1. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11347906) Nagase T. … Ohara O. (DNA Res. 2001) 2 3 4 67
  2. Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus. (PMID: 25564447) Davidson A.E. … Hardcastle A.J. (Invest. Ophthalmol. Vis. Sci. 2015) 3
  3. Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy. (PMID: 26460568) Johnson-Kerner B.L. … Wichterle H. (PLoS ONE 2015) 3
  4. Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus. (PMID: 24895405) Lechner J. … Willoughby C.E. (Hum. Mol. Genet. 2014) 3
  5. Mutations in the zinc finger protein gene, ZNF469, contribute to the pathogenesis of keratoconus. (PMID: 25097247) Vincent A.L. … McGhee C.N. (Invest. Ophthalmol. Vis. Sci. 2014) 3

Products for ZNF469 Gene

Sources for ZNF469 Gene