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] See more...

Aliases for ZNF469 Gene

Aliases for ZNF469 Gene

  • Zinc Finger Protein 469 2 3 4 5
  • KIAA1858 2 4
  • Zfp469 2 3
  • ZNF469 5
  • BCS1 3
  • BCS 3

External Ids for ZNF469 Gene

Previous GeneCards Identifiers for ZNF469 Gene

  • GC16P088240
  • 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 Keratoconus 1.

UniProtKB/Swiss-Prot Summary for ZNF469 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZNF469 Gene

Genomics for ZNF469 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZNF469 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J088382 Enhancer 0.7 ENCODE 600.7 +0.8 817 2.3 CTCF ZBTB33 KDM1A FOXA1 ZIC2 PATZ1 EZH2 ZFX RAD21 SP1 ZNF469 HSALNG0113498 ZFPM1
GH16J088381 Enhancer 0.3 ENCODE 600.7 -1.1 -1051 0.2 ESRRA ZNF469 HSALNG0113498 HSALNG0113490 LOC107984862
GH16J088315 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.8 -66.6 -66604 3.9 HNRNPL CREB1 GATAD2A REST RFX1 IKZF1 JUND DPF2 GABPA ZFX ZNF469 APRT HSALNG0113490 LOC107984862
GH16J088442 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.1 +60.2 60242 1.2 ZNF221 HNRNPL GATAD2A CTCF NFKBIZ ZNF692 TARDBP LARP7 MTA2 ZNF143 ENSG00000259877 ZC3H18 KLHDC4 GALNS LOC100289580 ZNF469 TRAPPC2L CTU2 ZCCHC14 BANP
GH16J088523 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.2 +143.0 142956 5 HNRNPL GATAD2A CTCF TFE3 ZNF692 TARDBP LARP7 MTA2 ZNF143 PHF21A ZC3H18 LOC100128882 ANKRD11 ZFPM1 ENSG00000268218 LINC00304 ZNF469 ENSG00000259877 BANP ENSG00000261118
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZNF469 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZNF469

Top Transcription factor binding sites by QIAGEN in the ZNF469 gene promoter:
  • AP-4
  • ER-alpha
  • Lhx3a
  • LHX3b
  • Lmo2
  • Max1
  • Olf-1
  • RFX1
  • STAT3
  • XBP-1

Genomic Locations for ZNF469 Gene

Genomic Locations for ZNF469 Gene
chr16:88,382,959-88,440,757
(GRCh38/hg38)
Size:
57,799 bases
Orientation:
Plus strand
chr16:88,493,879-88,507,165
(GRCh37/hg19)
Size:
13,287 bases
Orientation:
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:
    Q96JG9-ZN469_HUMAN
    Recommended name:
    Zinc finger protein 469
    Protein Accession:
    Q96JG9

    Protein attributes for ZNF469 Gene

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

neXtProt entry for ZNF469 Gene

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ZNF469 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ZNF469 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein 469 (ZN469_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96JG9

UniProtKB/Swiss-Prot:

ZN469_HUMAN :
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
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 From GWAS Catalog for ZNF469 Gene

Gene Ontology (GO) - Molecular Function for ZNF469 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZNF469: view
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) , Animal Models , 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZNF469 gene
Compartment Confidence
nucleus 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 & Interactions for ZNF469 Gene

PathCards logo

SuperPathways for ZNF469 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZNF469 Gene

None

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

2 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF469

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

No ASD Table

Relevant External Links for ZNF469 Gene

GeneLoc Exon Structure for
ZNF469

Expression for ZNF469 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ZNF469 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZNF469

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.

Evidence on tissue expression from TISSUES for ZNF469 Gene

  • Nervous system(4.1)
  • Eye(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNF469 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • outer ear
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
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
Chimpanzee
(Pan troglodytes)
Mammalia ZNF469 30 31
  • 98.25 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ZNF469 30 31
  • 72.23 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ZNF469 30 31
  • 71.37 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gm22 30 31
  • 65.62 (n)
OneToOne
Zfp469 17
Rat
(Rattus norvegicus)
Mammalia Zfp469 30
  • 65.19 (n)
Oppossum
(Monodelphis domestica)
Mammalia ZNF469 31
  • 35 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ZNF469 31
  • 34 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ZNF469 31
  • 27 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ZNF469 31
  • 26 (a)
OneToOne
Species where no ortholog for ZNF469 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for ZNF469: view image

Paralogs for ZNF469 Gene

No data available for Paralogs for ZNF469 Gene

Variants for ZNF469 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZNF469 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
684473 Not Provided: Brittle cornea syndrome 1 88,428,738(+) C/T MISSENSE_VARIANT
684503 Not Provided: Brittle cornea syndrome 1 88,433,249(+) C/T MISSENSE_VARIANT
730 Pathogenic: Brittle cornea syndrome 1 88,433,496(+) CA/C FRAMESHIFT_VARIANT
808120 Likely Benign: not provided 88,428,361(+) C/G MISSENSE_VARIANT
808121 Uncertain Significance: not provided 88,428,809(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ZNF469 Gene

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

Variant ID Type Subtype PubMed ID
dgv171n21 CNV loss 19592680
dgv5293n54 CNV loss 21841781
esv2758669 CNV gain 17122850
nsv1061590 CNV gain 25217958
nsv471111 CNV loss 18288195
nsv471112 CNV gain 18288195
nsv528456 CNV loss 19592680
nsv827828 CNV gain 20364138
nsv827829 CNV gain 20364138
nsv952070 CNV deletion 24416366

Variation tolerance for ZNF469 Gene

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

Additional Variant Information for ZNF469 Gene

Human Gene Mutation Database (HGMD)
ZNF469
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNF469

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

Disorders for ZNF469 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
brittle cornea syndrome 1
  • bcs1
keratoconus 1
  • ktcn1
brittle cornea syndrome 2
  • fragilitas oculi with joint hyperextensibility
keratoconus
  • conical cornea
refractive error
  • refractive errors
- elite association - COSMIC cancer census association via MalaCards

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.

Additional Disease Information for ZNF469

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4
  2. Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. (PMID: 20485516) Lu Y … Mackey DA (PLoS genetics 2010) 3 41
  3. Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. (PMID: 18452888) Abu A … Pras E (American journal of human genetics 2008) 3 4
  4. Identification of a Novel ZNF469 Mutation in a Pakistani Family With Brittle Cornea Syndrome. (PMID: 30865045) Micheal S … Bergen AAB (Cornea 2019) 3
  5. Corneal Perforation After Corneal Cross-Linking in Keratoconus Associated With Potentially Pathogenic ZNF469 Mutations. (PMID: 31107761) Zhang W … Aldave AJ (Cornea 2019) 3

Products for ZNF469 Gene

Sources for ZNF469 Gene