Human Gene ZNF462 (uc011lvz.2)
  Description: Homo sapiens zinc finger protein 462 (ZNF462), mRNA.
RefSeq Summary (NM_021224): The protein encoded by this gene belongs to C2H2-type zinc finger family of proteins. It contains multiple C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016].
Transcript (Including UTRs)
   Position: hg19 chr9:109,694,914-109,773,796 Size: 78,883 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr9:109,697,797-109,773,311 Size: 75,515 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:109,694,914-109,773,796)mRNA (may differ from genome)Protein (463 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsGeneNetwork
H-INVHGNCLynxMalacardsMGIPubMed
TreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: F5H0Z0_HUMAN
DESCRIPTION: SubName: Full=Zinc finger protein 462;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  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): ZNF462
CDC HuGE Published Literature: ZNF462
Positive Disease Associations: Body Height , height , menarche (age at onset)
Related Studies:
  1. Body Height
    Daniel F Gudbjartsson et al. Nature genetics 2008, Many sequence variants affecting diversity of adult human height., Nature genetics. [PubMed 18391951]
  2. height
    Gudbjartsson ,et al. 2008, Many sequence variants affecting diversity of adult human height, Nature genetics 2008 40- 5 : 609-15. [PubMed 18391951]
  3. menarche (age at onset)
    Perry ,et al. 2009, Meta-analysis of genome-wide association data identifies two loci influencing age at menarche, Nature genetics 2009 . [PubMed 19448620]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: ZNF462
Diseases sorted by gene-association score: autosomal dominant non-syndromic intellectual disability* (400), craniosynostosis* (234)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 5.62 RPKM in Testis
Total median expression: 121.71 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 -47.17186-0.254 Picture PostScript Text
3' UTR -122.60485-0.253 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
PF13909 - C2H2-type zinc-finger domain

SCOP Domains:
57667 - C2H2 and C2HC zinc fingers

ModBase Predicted Comparative 3D Structure on F5H0Z0
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     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  BX648965 - Homo sapiens mRNA; cDNA DKFZp686L2367 (from clone DKFZp686L2367).
KJ903020 - Synthetic construct Homo sapiens clone ccsbBroadEn_12414 ZNF462 gene, encodes complete protein.
BC172445 - Synthetic construct Homo sapiens clone IMAGE:100069139, MGC:199150 zinc finger protein 462 (ZNF462) mRNA, encodes complete protein.
CR749850 - Homo sapiens mRNA; cDNA DKFZp686B2325 (from clone DKFZp686B2325).
AK027866 - Homo sapiens cDNA FLJ14960 fis, clone PLACE4000192.
AB385505 - Synthetic construct DNA, clone: pF1KA1803, Homo sapiens ZNF462 gene for zinc finger protein 462, complete cds, without stop codon, in Flexi system.
AB058706 - Homo sapiens mRNA for KIAA1803 protein, partial cds.
BC036884 - Homo sapiens zinc finger protein 462, mRNA (cDNA clone IMAGE:5403937), complete cds.
AK302007 - Homo sapiens cDNA FLJ54970 complete cds, highly similar to Zinc finger protein 462.
AL359561 - Homo sapiens mRNA; cDNA DKFZp762N2316 (from clone DKFZp762N2316).
JD124274 - Sequence 105298 from Patent EP1572962.
JD379839 - Sequence 360863 from Patent EP1572962.
JD267119 - Sequence 248143 from Patent EP1572962.
JD312408 - Sequence 293432 from Patent EP1572962.
JD042207 - Sequence 23231 from Patent EP1572962.
JD274037 - Sequence 255061 from Patent EP1572962.
JD332631 - Sequence 313655 from Patent EP1572962.
JD434166 - Sequence 415190 from Patent EP1572962.
JD517025 - Sequence 498049 from Patent EP1572962.
JD435924 - Sequence 416948 from Patent EP1572962.
JD045120 - Sequence 26144 from Patent EP1572962.
JD496533 - Sequence 477557 from Patent EP1572962.
JD203649 - Sequence 184673 from Patent EP1572962.
JD260466 - Sequence 241490 from Patent EP1572962.
JD265824 - Sequence 246848 from Patent EP1572962.
JD251363 - Sequence 232387 from Patent EP1572962.
JD528005 - Sequence 509029 from Patent EP1572962.
JD036527 - Sequence 17551 from Patent EP1572962.
JD199215 - Sequence 180239 from Patent EP1572962.
JD481669 - Sequence 462693 from Patent EP1572962.
JD214886 - Sequence 195910 from Patent EP1572962.
JD111001 - Sequence 92025 from Patent EP1572962.
JD234335 - Sequence 215359 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AK302007, F5H0Z0, F5H0Z0_HUMAN
UCSC ID: uc011lvz.2
RefSeq Accession: NM_021224
Protein: F5H0Z0

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ZNF462:
weiss-kruszka (Weiss-Kruszka Syndrome)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK302007.1
exon count: 9CDS single in 3' UTR: no RNA size: 1771
ORF size: 1392CDS single in intron: no Alignment % ID: 99.94
txCdsPredict score: 2721.00frame 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.