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Aliases for HECTD2 Gene

Aliases for HECTD2 Gene

  • HECT Domain E3 Ubiquitin Protein Ligase 2 2 3 5
  • HECT Domain Containing E3 Ubiquitin Protein Ligase 2 2
  • HECT-Type E3 Ubiquitin Transferase HECTD2 4
  • HECT Domain-Containing Protein 2 4
  • EC 2.3.2.26 4

External Ids for HECTD2 Gene

Previous GeneCards Identifiers for HECTD2 Gene

  • GC10P092835
  • GC10P093160
  • GC10P086798

Summaries for HECTD2 Gene

GeneCards Summary for HECTD2 Gene

HECTD2 (HECT Domain E3 Ubiquitin Protein Ligase 2) is a Protein Coding gene. Among its related pathways are Immune System and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is UBE3A.

UniProtKB/Swiss-Prot for HECTD2 Gene

  • 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.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HECTD2 Gene

Genomics for HECTD2 Gene

Regulatory Elements for HECTD2 Gene

Enhancers for HECTD2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10F091610 1 FANTOM5 Ensembl ENCODE 11.2 +203.3 203310 4.7 TBP SIN3A ELK1 RCOR1 FOS ELK4 SMARCC1 SMAD5 CEBPB USF2 PPP1R3C HECTD2 TNKS2 TNKS2-AS1 HECTD2-AS1
GH10F091348 1.2 FANTOM5 Ensembl ENCODE 9.5 -58.9 -58903 3.7 PKNOX1 JUN SIN3A BMI1 ZNF316 EED FOS CREM MAFK MTA2 HECTD2 GC10P091296
GH10F091519 0.5 Ensembl ENCODE 8.3 +111.3 111276 1.2 JUND POLR2A HLF NR2F2 HECTD2 PPP1R3C RPS27P1 ENSG00000271385
GH10F091615 0.7 Ensembl ENCODE 7.6 +207.6 207567 2.2 TBP PKNOX1 ARID4B BMI1 ZNF2 ZBTB40 BRCA1 ZSCAN9 RAD21 ZNF335 HECTD2 PPP1R3C TNKS2-AS1 HECTD2-AS1
GH10F091671 0.5 Ensembl ENCODE 7.4 +263.0 262965 1.5 HDAC1 PKNOX1 SIN3A ZNF2 GATA2 ZNF366 ZNF263 ZNF518A ZNF592 POLR2H PPP1R3C HECTD2 GAPDHP28 GC10M091739
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around HECTD2 on UCSC Golden Path with GeneCards custom track

Promoters for HECTD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001017216 1021 3000 HDGF PKNOX1 SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 ZNF263 SP3

Genomic Location for HECTD2 Gene

Chromosome:
10
Start:
91,409,280 bp from pter
End:
91,514,829 bp from pter
Size:
105,550 bases
Orientation:
Plus strand

Genomic View for HECTD2 Gene

Genes around HECTD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HECTD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HECTD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HECTD2 Gene

Proteins for HECTD2 Gene

  • Protein details for HECTD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5U5R9-HECD2_HUMAN
    Recommended name:
    Probable E3 ubiquitin-protein ligase HECTD2
    Protein Accession:
    Q5U5R9
    Secondary Accessions:
    • Q5VZ97
    • Q5VZ98
    • Q5VZ99
    • Q8N1X7
    • Q8TCP5

    Protein attributes for HECTD2 Gene

    Size:
    776 amino acids
    Molecular mass:
    88122 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for HECTD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HECTD2 Gene

Post-translational modifications for HECTD2 Gene

  • Ubiquitination at Lys 53
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HECTD2 Gene

Domains & Families for HECTD2 Gene

Protein Domains for HECTD2 Gene

Graphical View of Domain Structure for InterPro Entry

Q5U5R9

UniProtKB/Swiss-Prot:

HECD2_HUMAN :
  • Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.
Domain:
  • Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.
genes like me logo Genes that share domains with HECTD2: view

No data available for Gene Families for HECTD2 Gene

Function for HECTD2 Gene

Molecular function for HECTD2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for HECTD2 Gene

Gene Ontology (GO) - Molecular Function for HECTD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IEA,TAS --
GO:0016740 transferase activity IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with HECTD2: view
genes like me logo Genes that share phenotypes with HECTD2: view

Animal Models for HECTD2 Gene

MGI Knock Outs for HECTD2:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HECTD2 Gene

Localization for HECTD2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HECTD2 Gene COMPARTMENTS Subcellular localization image for HECTD2 gene
Compartment Confidence
cytosol 3
nucleus 3
extracellular 1

Gene Ontology (GO) - Cellular Components for HECTD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with HECTD2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for HECTD2 Gene

Pathways & Interactions for HECTD2 Gene

genes like me logo Genes that share pathways with HECTD2: view

UniProtKB/Swiss-Prot Q5U5R9-HECD2_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for HECTD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0016567 protein ubiquitination IEA --
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA --
genes like me logo Genes that share ontologies with HECTD2: view

No data available for SIGNOR curated interactions for HECTD2 Gene

Transcripts for HECTD2 Gene

Unigene Clusters for HECTD2 Gene

HECT domain containing E3 ubiquitin protein ligase 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HECTD2 Gene

No ASD Table

Relevant External Links for HECTD2 Gene

GeneLoc Exon Structure for
HECTD2
ECgene alternative splicing isoforms for
HECTD2

Expression for HECTD2 Gene

mRNA expression in normal human tissues for HECTD2 Gene

Protein differential expression in normal tissues from HIPED for HECTD2 Gene

This gene is overexpressed in Platelet (32.8) and Heart (31.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HECTD2 Gene



Protein tissue co-expression partners for HECTD2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HECTD2 Gene:

HECTD2

SOURCE GeneReport for Unigene cluster for HECTD2 Gene:

Hs.596096
genes like me logo Genes that share expression patterns with HECTD2: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for HECTD2 Gene

Orthologs for HECTD2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HECTD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HECTD2 34 35
  • 99.7 (n)
dog
(Canis familiaris)
Mammalia HECTD2 34 35
  • 93.43 (n)
cow
(Bos Taurus)
Mammalia HECTD2 34 35
  • 92.77 (n)
rat
(Rattus norvegicus)
Mammalia Hectd2 34
  • 90.78 (n)
mouse
(Mus musculus)
Mammalia Hectd2 34 16 35
  • 89.15 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HECTD2 35
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HECTD2 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves HECTD2 34 35
  • 81.24 (n)
lizard
(Anolis carolinensis)
Reptilia HECTD2 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hectd2 34
  • 76.89 (n)
zebrafish
(Danio rerio)
Actinopterygii hectd2 34 35
  • 70.66 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HUL4 35 37
  • 22 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6373 34
Species where no ortholog for HECTD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HECTD2 Gene

ENSEMBL:
Gene Tree for HECTD2 (if available)
TreeFam:
Gene Tree for HECTD2 (if available)

Paralogs for HECTD2 Gene

Paralogs for HECTD2 Gene

genes like me logo Genes that share paralogs with HECTD2: view

Variants for HECTD2 Gene

Sequence variations from dbSNP and Humsavar for HECTD2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs10450389 -- 91,433,492(+) agtac(A/G)tagaa intron-variant
rs10786000 -- 91,414,920(+) TATTG(C/G)AATTT intron-variant
rs10786001 -- 91,470,986(+) CACAC(A/G)CACGC intron-variant
rs10881915 -- 91,497,091(+) agtat(C/T)tggga intron-variant
rs111261920 -- 91,416,821(+) CTCCA(C/T)CGTCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HECTD2 Gene

Variant ID Type Subtype PubMed ID
esv1003018 OTHER inversion 20482838
esv1767604 OTHER inversion 17803354
esv2189509 CNV deletion 18987734
esv2421381 CNV duplication 20811451
esv33149 CNV loss 17666407
esv3345260 OTHER inversion 20981092
esv3546676 CNV deletion 23714750
esv3624207 CNV loss 21293372
nsv1040403 CNV gain 25217958
nsv433413 CNV gain 18776910
nsv436654 OTHER inversion 17901297
nsv551913 CNV loss 21841781
nsv7208 OTHER inversion 18451855
nsv7488 CNV insertion 18451855
nsv948134 CNV duplication 23825009
nsv950993 CNV duplication 24416366

Variation tolerance for HECTD2 Gene

Residual Variation Intolerance Score: 37.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.21; 24.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HECTD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HECTD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HECTD2 Gene

Disorders for HECTD2 Gene

Relevant External Links for HECTD2

Genetic Association Database (GAD)
HECTD2
Human Genome Epidemiology (HuGE) Navigator
HECTD2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HECTD2

No disorders were found for HECTD2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HECTD2 Gene

Publications for HECTD2 Gene

  1. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 46 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W. … Gibbs R.A. (Genome Res. 1997) 2 3 64

Products for HECTD2 Gene

Sources for HECTD2 Gene

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