Human Gene HECTD2 (uc001khl.2) Description and Page Index
  Description: Homo sapiens HECT domain containing E3 ubiquitin protein ligase 2 (HECTD2), transcript variant 1, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr10:93,170,096-93,274,520 Size: 104,425 Total Exon Count: 21 Strand: +
Coding Region
   Position: hg19 chr10:93,170,196-93,272,141 Size: 101,946 Coding Exon Count: 21 

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

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr10:93,170,096-93,274,520)mRNA (may differ from genome)Protein (776 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtPubMedReactomeStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Probable E3 ubiquitin-protein ligase HECTD2; EC=6.3.2.-; AltName: Full=HECT domain-containing protein 2;
FUNCTION: Probable E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates (By similarity).
PATHWAY: Protein modification; protein ubiquitination.
SIMILARITY: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): HECTD2
CDC HuGE Published Literature: HECTD2
Positive Disease Associations: Echocardiography
Related Studies:
  1. Echocardiography
    Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics. [PubMed 17903301]
    In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.

-  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: 4.05 RPKM in Uterus
Total median expression: 106.55 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 -48.70100-0.487 Picture PostScript Text
3' UTR -544.932379-0.229 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
IPR000569 - HECT

Pfam Domains:
PF00632 - HECT-domain (ubiquitin-transferase)

SCOP Domains:
56204 - Hect, E3 ligase catalytic domain

ModBase Predicted Comparative 3D Structure on Q5U5R9
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 orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Protein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004842 ubiquitin-protein transferase activity
GO:0016740 transferase activity
GO:0061630 ubiquitin protein ligase activity

Biological Process:
GO:0000209 protein polyubiquitination
GO:0016567 protein ubiquitination

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol

-  Descriptions from all associated GenBank mRNAs
  BC071762 - Homo sapiens cDNA clone IMAGE:6592823, **** WARNING: chimeric clone ****.
AK295723 - Homo sapiens cDNA FLJ61276 complete cds, highly similar to Probable E3 ubiquitin-protein ligase HECTD2.
AK094625 - Homo sapiens cDNA FLJ37306 fis, clone BRAMY2016325.
BC040187 - Homo sapiens HECT domain containing 2, mRNA (cDNA clone MGC:42202 IMAGE:4811444), complete cds.
EU832472 - Synthetic construct Homo sapiens clone HAIB:100067501; DKFZo008C1029 HECT domain containing 2 protein (HECTD2) gene, encodes complete protein.
EU832551 - Synthetic construct Homo sapiens clone HAIB:100067580; DKFZo004C1030 HECT domain containing 2 protein (HECTD2) gene, encodes complete protein.
BX537856 - Homo sapiens mRNA; cDNA DKFZp779P1263 (from clone DKFZp779P1263).
JD418671 - Sequence 399695 from Patent EP1572962.
JD023502 - Sequence 4526 from Patent EP1572962.
JD030249 - Sequence 11273 from Patent EP1572962.
AK122629 - Homo sapiens cDNA FLJ16050 fis, clone HHDPC2003820, highly similar to Probable E3 ubiquitin-protein ligase HECTD2.
AL832073 - Homo sapiens mRNA; cDNA DKFZp313O1018 (from clone DKFZp313O1018).
BC036487 - Homo sapiens cDNA clone IMAGE:5261502, with apparent retained intron.
AL713675 - Homo sapiens mRNA; cDNA DKFZp761D0614 (from clone DKFZp761D0614).
AF131793 - Homo sapiens clone 25142 mRNA sequence.
JD508003 - Sequence 489027 from Patent EP1572962.
JD566903 - Sequence 547927 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q5U5R9 (Reactome details) participates in the following event(s):

R-HSA-983157 Interaction of E3 with substrate and E2-Ub complex
R-HSA-983147 Release of E3 from polyubiquitinated substrate
R-HSA-983140 Transfer of Ub from E2 to substrate and release of E2
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-983169 Class I MHC mediated antigen processing & presentation
R-HSA-1280218 Adaptive Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: HECD2_HUMAN, NM_182765, NP_877497, Q5U5R9, Q5VZ97, Q5VZ99, Q8TCP5
UCSC ID: uc001khl.2
RefSeq Accession: NM_182765
Protein: Q5U5R9 (aka HECD2_HUMAN)
CCDS: CCDS7414.1, CCDS60591.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_182765.3
exon count: 21CDS single in 3' UTR: no RNA size: 4826
ORF size: 2331CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4862.00frame shift in genome: no % Coverage: 99.67
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.