Human Gene HEATR5B (uc002rpp.1) Description and Page Index
  Description: Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr2:37,208,153-37,311,485 Size: 103,333 Total Exon Count: 36 Strand: -
Coding Region
   Position: hg19 chr2:37,208,633-37,310,557 Size: 101,925 Coding Exon Count: 35 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr2:37,208,153-37,311,485)mRNA (may differ from genome)Protein (2071 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
PubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=HEAT repeat-containing protein 5B;
SIMILARITY: Belongs to the HEATR5 family.
SIMILARITY: Contains 3 HEAT repeats.
SEQUENCE CAUTION: Sequence=BAA91733.1; Type=Erroneous initiation;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): HEATR5B
CDC HuGE Published Literature: HEATR5B
Positive Disease Associations: Heart Function Tests
Related Studies:
  1. Heart Function Tests
    Nona Sotoodehnia et al. Nature genetics 2010, Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction., Nature genetics. [PubMed 21076409]

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

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.27 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 308.07 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 -28.9096-0.301 Picture PostScript Text
3' UTR -98.01480-0.204 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

SCOP Domains:
48371 - ARM repeat

ModBase Predicted Comparative 3D Structure on Q9P2D3
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 BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 Protein SequenceProtein SequenceProtein SequenceProtein Sequence 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Cellular Component:
GO:0016020 membrane

-  Descriptions from all associated GenBank mRNAs
  AK001513 - Homo sapiens cDNA FLJ10651 fis, clone NT2RP2005868.
AB037835 - Homo sapiens mRNA for KIAA1414 protein, partial cds.
BX538008 - Homo sapiens mRNA; cDNA DKFZp686B2046 (from clone DKFZp686B2046).
FW340042 - Screening.
AL832880 - Homo sapiens mRNA; cDNA DKFZp667J243 (from clone DKFZp667J243).
AK026928 - Homo sapiens cDNA: FLJ23275 fis, clone HEP02872.
BX648805 - Homo sapiens mRNA; cDNA DKFZp686P15184 (from clone DKFZp686P15184).
BC150605 - Homo sapiens HEAT repeat containing 5B, mRNA (cDNA clone MGC:183515 IMAGE:9056975), complete cds.
LF342138 - JP 2014500723-A/149641: Polycomb-Associated Non-Coding RNAs.
JD257108 - Sequence 238132 from Patent EP1572962.
LF342139 - JP 2014500723-A/149642: Polycomb-Associated Non-Coding RNAs.
JD229108 - Sequence 210132 from Patent EP1572962.
MA577715 - JP 2018138019-A/149641: Polycomb-Associated Non-Coding RNAs.
MA577716 - JP 2018138019-A/149642: Polycomb-Associated Non-Coding RNAs.
BC085607 - Homo sapiens cDNA clone IMAGE:30397365.
BC031035 - Homo sapiens, clone IMAGE:4734442, mRNA.
AK096637 - Homo sapiens cDNA FLJ39318 fis, clone OCBBF2014089.
AK022179 - Homo sapiens cDNA FLJ12117 fis, clone MAMMA1000084.
AK093937 - Homo sapiens cDNA FLJ36618 fis, clone TRACH2016533.
AX748373 - Sequence 1898 from Patent EP1308459.
JD553917 - Sequence 534941 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B5MDU8, HTR5B_HUMAN, KIAA1414, NM_019024, NP_061897, Q7Z3B2, Q9NVL7, Q9P2D3
UCSC ID: uc002rpp.1
RefSeq Accession: NM_019024
Protein: Q9P2D3 (aka HTR5B_HUMAN)
CCDS: CCDS33181.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_019024.1
exon count: 36CDS single in 3' UTR: no RNA size: 6792
ORF size: 6216CDS single in intron: no Alignment % ID: 99.99
txCdsPredict score: 12415.00frame 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.