Human Gene ZNF469 (uc002fku.2) Description and Page Index
  Description: Homo sapiens zinc finger protein 469 (ZNF469), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr16:88,493,879-88,507,165 Size: 13,287 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg19 chr16:88,493,879-88,505,740 Size: 11,862 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr16:88,493,879-88,507,165)mRNA (may differ from genome)Protein (3925 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
Stanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Zinc finger protein 469;
FUNCTION: May be involved in transcriptional regulation.
SUBCELLULAR LOCATION: Nucleus (Potential).
TISSUE SPECIFICITY: Detected in cornea, sclera, skin fibroblasts and striated muscle.
DISEASE: Defects in ZNF469 are the cause of brittle cornea syndrome type 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).
SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein family.
SIMILARITY: Contains 5 C2H2-type zinc fingers.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ZNF469
CDC HuGE Published Literature: ZNF469

-  MalaCards Disease Associations
  MalaCards Gene Search: ZNF469
Diseases sorted by gene-association score: brittle cornea syndrome 1* (1019), keratoconus 1* (283), brittle cornea syndrome 2* (261), keratoconus (18), refractive error (9), glaucoma 1, open angle, e (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.30 RPKM in Cells - Cultured fibroblasts
Total median expression: 24.16 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -569.101425-0.399 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF00096 - Zinc finger, C2H2 type

SCOP Domains:
57667 - C2H2 and C2HC zinc fingers

ModBase Predicted Comparative 3D Structure on Q96JG9
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus

-  Descriptions from all associated GenBank mRNAs
  AB058761 - Homo sapiens mRNA for KIAA1858 protein, partial cds.
JD228594 - Sequence 209618 from Patent EP1572962.
JD395171 - Sequence 376195 from Patent EP1572962.
JD558126 - Sequence 539150 from Patent EP1572962.
JD223368 - Sequence 204392 from Patent EP1572962.
JD167194 - Sequence 148218 from Patent EP1572962.
JD544422 - Sequence 525446 from Patent EP1572962.
JD300603 - Sequence 281627 from Patent EP1572962.
JD537966 - Sequence 518990 from Patent EP1572962.
JD097974 - Sequence 78998 from Patent EP1572962.
JD424902 - Sequence 405926 from Patent EP1572962.
JD101083 - Sequence 82107 from Patent EP1572962.
JD076010 - Sequence 57034 from Patent EP1572962.
JD354305 - Sequence 335329 from Patent EP1572962.
JD465466 - Sequence 446490 from Patent EP1572962.
JD038502 - Sequence 19526 from Patent EP1572962.
JD335571 - Sequence 316595 from Patent EP1572962.
JD081851 - Sequence 62875 from Patent EP1572962.
JD407264 - Sequence 388288 from Patent EP1572962.
JD140533 - Sequence 121557 from Patent EP1572962.
JD416127 - Sequence 397151 from Patent EP1572962.
JD399697 - Sequence 380721 from Patent EP1572962.
JD365909 - Sequence 346933 from Patent EP1572962.
JD249482 - Sequence 230506 from Patent EP1572962.
JD137699 - Sequence 118723 from Patent EP1572962.
JD175294 - Sequence 156318 from Patent EP1572962.
JD562317 - Sequence 543341 from Patent EP1572962.
JD245633 - Sequence 226657 from Patent EP1572962.
JD564043 - Sequence 545067 from Patent EP1572962.
JD047263 - Sequence 28287 from Patent EP1572962.
JD084711 - Sequence 65735 from Patent EP1572962.
JD456801 - Sequence 437825 from Patent EP1572962.
JD382254 - Sequence 363278 from Patent EP1572962.
JD129273 - Sequence 110297 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: KIAA1858, NM_001127464, NP_001120936, Q96JG9, ZN469_HUMAN
UCSC ID: uc002fku.2
RefSeq Accession: NM_001127464
Protein: Q96JG9 (aka ZN469_HUMAN or Z469_HUMAN)
CCDS: CCDS45544.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_001127464.1
exon count: 2CDS single in 3' UTR: no RNA size: 13203
ORF size: 11778CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 23637.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.