Human Gene YTHDC2 (uc003kqn.3)
  Description: Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.
RefSeq Summary (NM_022828): This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein binds to N6-methyladenosine, a common modified RNA nucleotide that is enriched in the stop codons and 3' UTRs of eukaryotic messenger RNAs. Binding of proteins to this modified nucleotide may regulate mRNA translation and stability. This gene may be associated with susceptibility to pancreatic cancer in human patients, and knockdown of this gene resulted in reduced proliferation in a human liver cancer cell line. [provided by RefSeq, Sep 2016].
Transcript (Including UTRs)
   Position: hg19 chr5:112,849,391-112,930,984 Size: 81,594 Total Exon Count: 30 Strand: +
Coding Region
   Position: hg19 chr5:112,849,593-112,929,080 Size: 79,488 Coding Exon Count: 29 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:112,849,391-112,930,984)mRNA (may differ from genome)Protein (1430 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: YTDC2_HUMAN
DESCRIPTION: RecName: Full=Probable ATP-dependent RNA helicase YTHDC2; EC=3.6.4.13;
CATALYTIC ACTIVITY: ATP + H(2)O = ADP + phosphate.
INTERACTION: Q99J34:Irak1 (xeno); NbExp=2; IntAct=EBI-1057466, EBI-6117042; Q15306:IRF4; NbExp=2; IntAct=EBI-1057466, EBI-751345;
SIMILARITY: Belongs to the DEAD box helicase family. DEAH subfamily.
SIMILARITY: Contains 2 ANK repeats.
SIMILARITY: Contains 1 helicase ATP-binding domain.
SIMILARITY: Contains 1 helicase C-terminal domain.
SIMILARITY: Contains 1 R3H domain.
SIMILARITY: Contains 1 YTH domain.
SEQUENCE CAUTION: Sequence=BAB15183.1; Type=Erroneous initiation;

-  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): YTHDC2
CDC HuGE Published Literature: YTHDC2
Positive Disease Associations: Anemia, Sickle Cell , Body Height , Body Weights and Measures , Death, Sudden, Cardiac , Erythrocyte Count , Hemoglobins , Hip , Lipoproteins , Triglycerides
Related Studies:
  1. Anemia, Sickle Cell
    Pallav Bhatnagar et al. Journal of human genetics 2011, Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients., Journal of human genetics. [PubMed 21326311]
  2. Body Height
    , , . [PubMed 0]
  3. Body Weights and Measures
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
           more ... click here to view the complete list

-  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: 13.69 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 384.40 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 -85.80202-0.425 Picture PostScript Text
3' UTR -384.771813-0.212 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
IPR002110 - Ankyrin_rpt
IPR020683 - Ankyrin_rpt-contain_dom
IPR011545 - DNA/RNA_helicase_DEAD/DEAH_N
IPR011709 - DUF1605
IPR007502 - Helicase-assoc_dom
IPR014001 - Helicase_ATP-bd
IPR001650 - Helicase_C
IPR001374 - R3H_ss-bd
IPR007275 - YTH_domain

Pfam Domains:
PF00270 - DEAD/DEAH box helicase
PF00271 - Helicase conserved C-terminal domain
PF01424 - R3H domain
PF04146 - YT521-B-like domain
PF04408 - Helicase associated domain (HA2)
PF07717 - Oligonucleotide/oligosaccharide-binding (OB)-fold

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases
48403 - Ankyrin repeat
82708 - R3H domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2YU6 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q9H6S0
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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 orthologGenome BrowserNo ortholog
Gene Details   Gene Details 
Gene Sorter   Gene Sorter 
    WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0004004 ATP-dependent RNA helicase activity
GO:0004386 helicase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008186 RNA-dependent ATPase activity
GO:0016787 hydrolase activity
GO:0070063 RNA polymerase binding
GO:1990247 N6-methyladenosine-containing RNA binding

Biological Process:
GO:0006396 RNA processing
GO:0034612 response to tumor necrosis factor
GO:0044829 positive regulation by host of viral genome replication
GO:0070555 response to interleukin-1

Cellular Component:
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum


-  Descriptions from all associated GenBank mRNAs
  AK096486 - Homo sapiens cDNA FLJ39167 fis, clone OCBBF2002865, weakly similar to DOSAGE COMPENSATION REGULATOR.
AK310855 - Homo sapiens cDNA, FLJ17897.
BC019100 - Homo sapiens YTH domain containing 2, mRNA (cDNA clone IMAGE:4909312), partial cds.
BC137285 - Homo sapiens YTH domain containing 2, mRNA (cDNA clone MGC:168905 IMAGE:9021282), complete cds.
AK131450 - Homo sapiens cDNA FLJ16598 fis, clone TESTI4006473, weakly similar to ATP-dependent RNA helicase A.
AK225316 - Homo sapiens mRNA for YTH domain containing 2 variant, clone: HEP04512.
AK025593 - Homo sapiens cDNA: FLJ21940 fis, clone HEP04512.
JD081270 - Sequence 62294 from Patent EP1572962.
JD475178 - Sequence 456202 from Patent EP1572962.
JD280548 - Sequence 261572 from Patent EP1572962.
JD501418 - Sequence 482442 from Patent EP1572962.
CR627037 - Homo sapiens mRNA; cDNA DKFZp686K16112 (from clone DKFZp686K16112).
AK095368 - Homo sapiens cDNA FLJ38049 fis, clone CTONG2014280.
AK000915 - Homo sapiens cDNA FLJ10053 fis, clone HEMBA1001303.
JD048853 - Sequence 29877 from Patent EP1572962.
JD245557 - Sequence 226581 from Patent EP1572962.
JD559750 - Sequence 540774 from Patent EP1572962.
AL049305 - Homo sapiens mRNA; cDNA DKFZp564A186 (from clone DKFZp564A186).
JD172162 - Sequence 153186 from Patent EP1572962.
JD083876 - Sequence 64900 from Patent EP1572962.
JD321406 - Sequence 302430 from Patent EP1572962.
JD036426 - Sequence 17450 from Patent EP1572962.
JD410557 - Sequence 391581 from Patent EP1572962.
JD553514 - Sequence 534538 from Patent EP1572962.
JD416670 - Sequence 397694 from Patent EP1572962.
JD386619 - Sequence 367643 from Patent EP1572962.
JD555763 - Sequence 536787 from Patent EP1572962.
JD524325 - Sequence 505349 from Patent EP1572962.
JD244314 - Sequence 225338 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B2RP66, NM_022828, NP_073739, Q9H6S0, YTDC2_HUMAN
UCSC ID: uc003kqn.3
RefSeq Accession: NM_022828
Protein: Q9H6S0 (aka YTDC2_HUMAN)
CCDS: CCDS4113.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_022828.3
exon count: 30CDS single in 3' UTR: no RNA size: 6308
ORF size: 4293CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 8644.00frame 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.