Human Gene ZNF408 (ENST00000311764.3_4) from GENCODE V47lift37
  Description: zinc finger protein 408, transcript variant 1 (from RefSeq NM_024741.3)
Gencode Transcript: ENST00000311764.3_4
Gencode Gene: ENSG00000175213.3_7
Transcript (Including UTRs)
   Position: hg19 chr11:46,722,581-46,727,462 Size: 4,882 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr11:46,722,598-46,727,413 Size: 4,816 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:46,722,581-46,727,462)mRNA (may differ from genome)Protein (720 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ZN408_HUMAN
DESCRIPTION: RecName: Full=Zinc finger protein 408; AltName: Full=PR domain zinc finger protein 17;
FUNCTION: May be involved in transcriptional regulation.
INTERACTION: Self; NbExp=4; IntAct=EBI-347633, EBI-347633; Q8NHQ1:CEP70; NbExp=3; IntAct=EBI-347633, EBI-739624; Q13868:EXOSC2; NbExp=3; IntAct=EBI-347633, EBI-301735; Q14192:FHL2; NbExp=3; IntAct=EBI-347633, EBI-701903; O95751:LDOC1; NbExp=3; IntAct=EBI-347633, EBI-740738; Q9Y333:LSM2; NbExp=4; IntAct=EBI-347633, EBI-347416; Q99750:MDFI; NbExp=3; IntAct=EBI-347633, EBI-724076;
SUBCELLULAR LOCATION: Nucleus (Potential).
SIMILARITY: Contains 10 C2H2-type zinc fingers.

-  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


-  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 -0.3017-0.018 Picture PostScript Text
3' UTR -6.6049-0.135 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:
53686 - Tryptophan synthase beta subunit-like PLP-dependent enzymes
57667 - beta-beta-alpha zinc fingers
57783 - Zinc beta-ribbon
57802 - Rubredoxin-like
57850 - RING/U-box
161219 - CHY zinc finger-like
75712 - Rad50 coiled-coil Zn hook

ModBase Predicted Comparative 3D Structure on Q9H9D4
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 orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
      
      

-  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:0005515 protein binding
GO:0042802 identical protein 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
  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: ENST00000311764.1, ENST00000311764.2, NM_024741, PFM14, PRDM17, Q9H9D4, uc317pbm.1, uc317pbm.2, ZN408_HUMAN
UCSC ID: ENST00000311764.3_4
RefSeq Accession: NM_024741.3
Protein: Q9H9D4 (aka ZN408_HUMAN or Z408_HUMAN)

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

-  Gene Model Information
  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.