Human Gene ZNF408 (uc010rgw.2)
  Description: Homo sapiens zinc finger protein 408 (ZNF408), transcript variant 2, mRNA.
RefSeq Summary (NM_001184751): The protein encoded by this gene contains ten tandem zinc fingers and an N-terminal SET domain, so it is likely a DNA binding protein that interacts with other proteins. In adults, the encoded protein is expressed most highly in retina. Consequently, defects in this gene have been associated with familial exudative vitreoretinopathy (FEVR) and retinitis pigmentosa (RP). [provided by RefSeq, Dec 2016].
Transcript (Including UTRs)
   Position: hg19 chr11:46,722,644-46,727,466 Size: 4,823 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr11:46,722,664-46,727,413 Size: 4,750 Coding Exon Count: 5 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:46,722,644-46,727,466)mRNA (may differ from genome)Protein (712 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMalacardsMGIOMIM
PubMedTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ZNF408
CDC HuGE Published Literature: ZNF408
Positive Disease Associations: Bone Density
Related Studies:
  1. Bone Density
    Fernando Rivadeneira et al. Nature genetics 2009, Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies., Nature genetics. [PubMed 19801982]

-  MalaCards Disease Associations
  MalaCards Gene Search: ZNF408
Diseases sorted by gene-association score: exudative vitreoretinopathy 6* (1350), retinitis pigmentosa 72* (1229), exudative vitreoretinopathy* (199), retinitis pigmentosa* (54), retinal vascular disease (4)
* = 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: 7.61 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 241.26 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
5' UTR -2.1020-0.105 Picture PostScript Text
3' UTR -6.2053-0.117 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
PF12874 - Zinc-finger of C2H2 type
PF13894 - C2H2-type zinc finger
PF13912 - C2H2-type zinc finger

SCOP Domains:
48695 - Multiheme cytochromes
57667 - C2H2 and C2HC zinc fingers

ModBase Predicted Comparative 3D Structure on B4DXY4
FrontTopSide
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 orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding


-  Descriptions from all associated GenBank mRNAs
  AF346626 - Homo sapiens PR-domain containing protein 17 mRNA, complete cds.
AK022889 - Homo sapiens cDNA FLJ12827 fis, clone NT2RP2002939, weakly similar to ZINC FINGER PROTEIN 136.
BC015708 - Homo sapiens zinc finger protein 408, mRNA (cDNA clone MGC:10211 IMAGE:3911552), complete cds.
BC013355 - Homo sapiens zinc finger protein 408, mRNA (cDNA clone MGC:15019 IMAGE:4040144), complete cds.
AB527679 - Synthetic construct DNA, clone: pF1KB6208, Homo sapiens ZNF408 gene for zinc finger protein 408, without stop codon, in Flexi system.
EU446532 - Synthetic construct Homo sapiens clone IMAGE:100070034; IMAGE:100011741; FLH257180.01L zinc finger protein 408 (ZNF408) gene, encodes complete protein.
GQ129323 - Synthetic construct Homo sapiens clone HAIB:100068676; DKFZo004D0236 zinc finger protein 408 protein (ZNF408) gene, partial cds.
GQ129324 - Synthetic construct Homo sapiens clone HAIB:100068579; DKFZo008D0235 zinc finger protein 408 protein (ZNF408) gene, complete cds.
AK302180 - Homo sapiens cDNA FLJ51730 complete cds, highly similar to Zinc finger protein 408.
JD222555 - Sequence 203579 from Patent EP1572962.
JD099735 - Sequence 80759 from Patent EP1572962.
JD202239 - Sequence 183263 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B4DXY4, B4DXY4_HUMAN, NM_001184751, NP_001171680
UCSC ID: uc010rgw.2
RefSeq Accession: NM_001184751
Protein: B4DXY4 CCDS: CCDS7923.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ZNF408:
rp-overview (Nonsyndromic Retinitis Pigmentosa Overview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001184751.1
exon count: 5CDS single in 3' UTR: no RNA size: 2222
ORF size: 2139CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4475.00frame shift in genome: no % Coverage: 99.55
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.