ZNF469 Gene
protein-coding GIFtS: 40
GCID: GC16P088493
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zinc finger protein 469
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Aliases
for ZNF469 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Zinc Finger Protein 4691 2 | | KIAA18581 3 5 | | BCS2 5 |
Export aliases for ZNF469 gene to outside databasesPrevious GC identifers: GC16P088240 GC16P087021 GC16P074187 |
Summaries
for ZNF469 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ZNF469:
This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as atranscription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutationsin this gene cause brittle cornea syndrome. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: ZN469_HUMAN, Q96JG9Function: May be involved in transcriptional regulation
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Genomic Views
for ZNF469 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000016.9 NC_018927.1 NT_010542.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ZNF469 gene promoter:
Max1 ER-alpha RFX1 LHX3b/Lhx3b Lmo2 Olf-1 XBP-1 AP-4 STAT3 LHX3a/Lhx3a
Other transcription factors
Search SABiosciences Chromatin IP Primers for ZNF469
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZNF469 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 16q24 Ensembl cytogenetic band: 16q24.2 HGNC cytogenetic band: 16q24ZNF469 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 16 GeneLoc Exon Structure GeneLoc location for GC16P088493: view genomic region
(about GC identifiers)
Start:
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88,493,879 bp from pter |
End:
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88,507,165 bp from pter |
Size:
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13,287 bases |
Orientation:
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plus strand |
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Proteins
for ZNF469 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: ZN469_HUMAN, Q96JG9 (See
protein sequence)Recommended Name: Zinc finger protein 469 Size: 3925 amino acids; 410202 Da
Subcellular location: Nucleus (Potential)Explore the universe of human proteins at neXtProt for ZNF469: NX_Q96JG9
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96JG9
ZNF469 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001120936.1
ENSEMBL proteins: ENSP00000456500 ENSP00000402343
Human Recombinant Protein Products for ZNF469:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
ZNF469 for ontologies About GeneDecksing
ZNF469 Antibody Products:
Assay Products for ZNF469: |
Protein
Domains /
Families
for ZNF469 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ZNF469 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q96JG9ProtoNet protein and cluster: Q96JG9 UniProtKB/Swiss-Prot: ZN469_HUMAN, Q96JG9Similarity: Belongs to the krueppel C2H2-type zinc-finger protein familySimilarity: Contains 5 C2H2-type zinc fingers |
Function
for ZNF469 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: ZN469_HUMAN, Q96JG9Function: May be involved in transcriptional regulation Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
ZNF469 for ontologies About GeneDecksing
Phenotypes:
1 GenomeRNAi human phenotype for ZNF469:
Animal Models:
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZNF469 |
|
Pathways & Interactions
for ZNF469 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ZNF469
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
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| GO:0006351 | transcription, DNA-dependent |
IEA | -- | | GO:0006355 | regulation of transcription, DNA-dependent |
IEA | -- |
ZNF469 for ontologies About GeneDecksing
|
Drugs & Compounds
for ZNF469 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for ZNF469
Search CenterWatch for drugs/clinical trials and news about ZNF469 / ZN469 
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Transcripts
for ZNF469 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ZNF469 gene: NM_001127464.1 Unigene Cluster for ZNF469: Zinc finger protein 469 Hs.54925 [show with all ESTs]Unigene Representative Sequence: NM_0011274642 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000565624 ENST00000437464(uc002fku.2)
Additional cDNA sequence: AB058761.2 2 DOTS entries: DT.109009 DT.97800833 1 AceView cDNA sequence: BI871193
GeneLoc Exon Structure
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Expression
for ZNF469 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ZNF469 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See ZNF469 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ZNF469
SOURCE GeneReport for Unigene cluster: Hs.54925
UniProtKB/Swiss-Prot: ZN469_HUMAN, Q96JG9Tissue specificity: Detected in cornea, sclera, skin fibroblasts and striated muscle
SABiosciences Custom PCR Arrays for ZNF469
Primer
Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ZNF469
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ZNF469 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ZNF469 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ZNF469 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZNF469 |
Orthologs
for ZNF469 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for ZNF469 gene from 3/7 species (see all 7) About this table
ENSEMBL Gene Tree for ZNF469 (if available)
TreeFam Gene Tree for ZNF469 (if available) |
Paralogs
for ZNF469 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for ZNF469 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 16 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
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HapMap Linkage Disequilibrium report for ZNF469 (88493879 - 88507165 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for ZNF469
3 CNVs: 30009 4017 30010
Human Gene Mutation Database (HGMD): ZNF469
| SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for ZNF469 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ZNF469 for disorders About GeneDecksing
OMIM gene information: 612078
OMIM disorders: 229200
UniProtKB/Swiss-Prot: ZN469_HUMAN, Q96JG9
Defects in ZNF469 are the cause of brittle cornea syndrome type 1 (BCS1) [MIM:229200]. A disordercharacterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconusor keratoglobus, hyperelasticity of the skin, and hypermobility of the joints. It shares some features with, but ismuch less severe than, the ocular form of Ehlers-Danlos syndrome (EDS6)
5  diseases for ZNF469: About MalaCardstype vi ehlers-danlos syndrome ehlers-danlos syndrome glaucoma keratoconus
blindness
1 disease from the University of Copenhagen DISEASES database for ZNF469:Ehlers-Danlos syndrome Human Genome Epidemiology (HuGE) Navigator: ZNF469 (2 documents)
Export disorders for ZNF469 gene to outside databases
|
Publications
for ZNF469 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ZNF469 gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with ZNF469) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (PubMed id 11347906)1, 2, 3 Nagase T.... Ohara O. (2001)
- Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. (PubMed id 18452888)1, 2 Abu A....Pras E. (2008)
- Identification of a novel ZNF469 mutation in a large f amily with Ehlers-Danlos phenotype. (PubMed id 23010198)1 Al-Owain M....Alkuraya F.S. (2012)
- Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness . (PubMed id 22814818)1 Hoehn R....Mirshahi A. (2012)
- Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. (PubMed id 21664999)1 Burkitt Wright E.M....Black G.C. (2011)
- Brittle cornea syndrome associated with a missense mu tation in the zinc-finger 469 gene. (PubMed id 19661234)1 Christensen A.E....Boman H. (2010)
- Common genetic variants near the Brittle Cornea Syndr ome locus ZNF469 influence the blinding disease risk factor central corneal thi ckness. (PubMed id 20485516)1 Lu Y....Mackey D.A. (2010)
- Blue sclera with and without corneal fragility (britt le cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E13 92X). (PubMed id 20938016)1 Khan A.O....Alkuraya F.S. (2010)
- New loci associated with central cornea thickness inc lude COL5A1, AKAP13 and AVGR8. (PubMed id 20719862)1 Vitart V....Wright A. (2010)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1 Olsen J.V....Mann M. (2006)
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External Searches for ZNF469 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing ZNF469 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
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Other Databases showing ZNF469 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing ZNF469 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for ZNF469 | Pharmacogenomics, SNPs, Pathways |
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About This Section
| Patent Information for ZNF469 gene:
Search GeneIP for patents involving ZNF469
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ZNF469 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
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|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ZNF469 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ZNF469 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZNF469 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ZNF469 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ZNF469 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ZNF469 |
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| | | | Search Tocris compounds for ZNF469 |
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 | | | ZNF469 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZNF469 |
|  |  |  |  | | | | Search ThermoFisher Antibodies for ZNF469 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ZNF469 |
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