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Aliases for ZNF469 Gene

Aliases for ZNF469 Gene

  • Zinc Finger Protein 469 2 3
  • KIAA1858 4 6
  • BCS 3 6
  • BCS1 3

External Ids for ZNF469 Gene

Previous GeneCards Identifiers for ZNF469 Gene

  • GC16P088240
  • GC16P087021
  • 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ZNF469 Gene

Start:
88,427,471 bp from pter
End:
88,440,757 bp from pter
Size:
13,287 bases
Orientation:
Plus strand

Genomic View for ZNF469 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Q96JG9-ZN469_HUMAN
    Recommended name:
    Zinc finger protein 469
    Protein Accession:
    Q96JG9
    Secondary Accessions:

    Protein attributes for ZNF469 Gene

    Size:
    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 for ZNF469 Gene

Gene Families for ZNF469 Gene

HGNC:
  • ZNF :Zinc fingers, C2H2-type

Protein Domains for ZNF469 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ZNF469 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96JG9

UniProtKB/Swiss-Prot:

ZN469_HUMAN :
  • Q96JG9
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Similarity:
  • 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

Gene Ontology (GO) - Molecular Function for ZNF469 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZNF469: view

Phenotypes for ZNF469 Gene

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

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for ZNF469 Gene

Localization for ZNF469 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF469 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ZNF469 Gene COMPARTMENTS Subcellular localization image for ZNF469 gene
Compartment Confidence
nucleus 3
extracellular 1

Gene Ontology (GO) - Cellular Components for ZNF469 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with ZNF469: view

Pathways 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 --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with ZNF469: view

No data available for Pathways by source for ZNF469 Gene

Transcripts for ZNF469 Gene

mRNA/cDNA for ZNF469 Gene

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

Unigene Clusters for ZNF469 Gene

Zinc finger protein 469:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ZNF469

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ZNF469

Flow Cytometry Products

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

No ASD Table

Relevant External Links for ZNF469 Gene

GeneLoc Exon Structure for
ZNF469
ECgene alternative splicing isoforms for
ZNF469

Expression for ZNF469 Gene

mRNA expression in normal human tissues for ZNF469 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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

Q96JG9-ZN469_HUMAN
Tissue specificity: Detected in cornea, sclera, skin fibroblasts and striated muscle.
genes like me logo Genes that share expressions with ZNF469: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
chimpanzee
(Pan troglodytes)
Mammalia ZNF469 35
  • 98.25 (n)
  • 97.12 (a)
ZNF469 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ZNF469 35
  • 72.23 (n)
  • 59.98 (a)
ZNF469 36
  • 58 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ZNF469 35
  • 71.37 (n)
  • 58.4 (a)
ZNF469 36
  • 66 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm22 35
  • 65.62 (n)
  • 52.08 (a)
Gm22 16
Gm22 36
  • 55 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ZNF469 36
  • 35 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ZNF469 36
  • 34 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Zfp469 35
  • 65.19 (n)
  • 51.78 (a)
chicken
(Gallus gallus)
Aves ZNF469 36
  • 27 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ZNF469 36
  • 26 (a)
OneToOne
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

ENSEMBL:
Gene Tree for ZNF469 (if available)
TreeFam:
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 MAF
rs1048192 -- 88,440,239(+) AGGGA(A/G)GCCCC utr-variant-3-prime
rs1105066 - 88,438,442(+) TGTCT(C/G)AGGGG missense, reference
rs1983014 - 88,436,097(-) AGACA(C/T)GCGGG reference, missense
rs3812951 -- 88,438,445(-) CCCCC(C/T)CTCAG missense, reference
rs3812953 -- 88,436,074(-) GTCAA(A/G)CGACC reference, synonymous-codon

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

Relevant External Links for ZNF469 Gene

HapMap Linkage Disequilibrium report
ZNF469
Human Gene Mutation Database (HGMD)
ZNF469

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

Disorders for ZNF469 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for ZNF469 Gene including...

Search for ZNF469 Gene in MalaCards »

(1) OMIM Diseases for ZNF469 Gene (612078)

UniProtKB/Swiss-Prot

ZN469_HUMAN
  • 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.

(3) University of Copenhagen DISEASES for ZNF469 Gene

Relevant External Links for ZNF469

Genetic Association Database (GAD)
ZNF469
Human Genome Epidemiology (HuGE) Navigator
ZNF469
genes like me logo Genes that share disorders with ZNF469: view

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
  2. Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. (PMID: 18452888) Abu A. … Pras E. (Am. J. Hum. Genet. 2008) 3 4
  3. Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. (PMID: 20485516) Lu Y. … Mackey D.A. (PLoS Genet. 2010) 3 48
  4. New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8. (PMID: 20719862) Vitart V. … Wright A. (Hum. Mol. Genet. 2010) 3
  5. Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X). (PMID: 20938016) Khan A.O. … Alkuraya F.S. (Arch. Ophthalmol. 2010) 3

Products for ZNF469 Gene

Sources for ZNF469 Gene

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