Human Gene HEATR2 (uc010krz.1) Description and Page Index
  Description: Homo sapiens HEAT repeat containing 2 (HEATR2), transcript variant 1, mRNA.
RefSeq Summary (NM_017802): The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013].
Transcript (Including UTRs)
   Position: hg19 chr7:766,338-826,116 Size: 59,779 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr7:766,358-825,290 Size: 58,933 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:766,338-826,116)mRNA (may differ from genome)Protein (855 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: HEAT2_HUMAN
DESCRIPTION: RecName: Full=HEAT repeat-containing protein 2;
SIMILARITY: Contains 10 HEAT repeats.
SEQUENCE CAUTION: Sequence=AAH10850.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  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: 9.97 RPKM in Pituitary
Total median expression: 286.27 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -4.4020-0.220 Picture PostScript Text
3' UTR -227.02826-0.275 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
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR000357 - HEAT
IPR021133 - HEAT_type_2

Pfam Domains:
PF13646 - HEAT repeats

SCOP Domains:
48371 - ARM repeat
48431 - Lipovitellin-phosvitin complex, superhelical domain

ModBase Predicted Comparative 3D Structure on Q86Y56
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 orthologGenome BrowserNo orthologGenome BrowserNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGD FlyBase  
 Protein Sequence Protein Sequence  
 Alignment Alignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0045505 dynein intermediate chain binding

Biological Process:
GO:0003341 cilium movement
GO:0030030 cell projection organization
GO:0036158 outer dynein arm assembly
GO:0036159 inner dynein arm assembly

Cellular Component:
GO:0005737 cytoplasm
GO:0031514 motile cilium


-  Descriptions from all associated GenBank mRNAs
  BC047240 - Homo sapiens HEAT repeat containing 2, mRNA (cDNA clone MGC:57447 IMAGE:5274510), complete cds.
AK056233 - Homo sapiens cDNA FLJ31671 fis, clone NT2RI2004985, highly similar to HEAT repeat-containing protein 2.
AK096700 - Homo sapiens cDNA FLJ39381 fis, clone PERIC2000422, highly similar to HEAT repeat-containing protein 2.
BC010850 - Homo sapiens HEAT repeat containing 2, mRNA (cDNA clone IMAGE:3902385), complete cds.
AK098430 - Homo sapiens cDNA FLJ25564 fis, clone JTH03031.
BC072425 - Homo sapiens cDNA clone IMAGE:6203540, with apparent retained intron.
BC008192 - Homo sapiens HEAT repeat containing 2, mRNA (cDNA clone IMAGE:4213551), **** WARNING: chimeric clone ****.
AK000404 - Homo sapiens cDNA FLJ20397 fis, clone KAT00565.
AK225507 - Homo sapiens mRNA for hypothetical protein LOC54919 variant, clone: KAT00565.
AK054595 - Homo sapiens cDNA FLJ30033 fis, clone 3NB692001433, highly similar to HEAT repeat-containing protein 2.
BC094840 - Homo sapiens cDNA clone IMAGE:5928122.
AL832914 - Homo sapiens mRNA; cDNA DKFZp762F1415 (from clone DKFZp762F1415).
AK127690 - Homo sapiens cDNA FLJ45789 fis, clone NOVAR2000783.
AK125479 - Homo sapiens cDNA FLJ43490 fis, clone OCBBF3007516.
JD133317 - Sequence 114341 from Patent EP1572962.
JD150287 - Sequence 131311 from Patent EP1572962.
JD351486 - Sequence 332510 from Patent EP1572962.
JD504668 - Sequence 485692 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: HEAT2_HUMAN, NM_017802, NP_060272, Q69YL1, Q86Y56, Q96FI9, Q9NX75
UCSC ID: uc010krz.1
RefSeq Accession: NM_017802
Protein: Q86Y56 (aka HEAT2_HUMAN)
CCDS: CCDS34580.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_017802.3
exon count: 13CDS single in 3' UTR: no RNA size: 3424
ORF size: 2568CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4741.00frame shift in genome: no % Coverage: 99.71
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.