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 3
  • Probable E3 Ubiquitin-Protein Ligase HECTD2 3 4
  • HECT-Type E3 Ubiquitin Transferase HECTD2 3 4
  • HECT Domain-Containing Protein 2 3 4
  • EC 2.3.2.26 4
  • FLJ37306 2
  • HECTD2 5

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 Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (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 Summary 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.

Additional gene information for HECTD2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HECTD2 Gene

Genomics for HECTD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HECTD2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HECTD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HECTD2

Top Transcription factor binding sites by QIAGEN in the HECTD2 gene promoter:
  • Evi-1
  • Gfi-1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • POU2F1
  • POU2F1a
  • RSRFC4

Genomic Locations for HECTD2 Gene

Genomic Locations for HECTD2 Gene
chr10:91,409,235-91,514,829
(GRCh38/hg38)
Size:
105,595 bases
Orientation:
Plus strand
chr10:93,170,096-93,274,586
(GRCh37/hg19)
Size:
104,491 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 Lys53
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HECTD2 Gene

Domains & Families for HECTD2 Gene

Gene Families for HECTD2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for HECTD2 Gene

InterPro:
Blocks:
  • HECT domain (Ubiquitin-protein ligase)
ProtoNet:

Suggested Antigen Peptide Sequences for HECTD2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ16050 fis, clone HHDPC2003820, highly similar to Probable E3 ubiquitin-protein ligase HECTD2 (B3KV18_HUMAN)
  • HECT domain-containing protein 2 (HECD2_HUMAN)
  • cDNA FLJ37306 fis, clone BRAMY2016325 (Q8N1X7_HUMAN)
genes like me logo Genes that share domains with HECTD2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for HECTD2 Gene

Function for HECTD2 Gene

Molecular function for HECTD2 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=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.; EC=2.3.2.26;.

Enzyme Numbers (IUBMB) for HECTD2 Gene

Phenotypes From GWAS Catalog 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 --
GO:0016740 transferase 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:
  • Hectd2 Hectd2<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HECTD2

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

Localization for HECTD2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HECTD2 gene
Compartment Confidence
cytosol 4
nucleus 3
mitochondrion 1
endoplasmic reticulum 1
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HECTD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 --
genes like me logo Genes that share ontologies with HECTD2: view

No data available for SIGNOR curated interactions for HECTD2 Gene

Drugs & Compounds for HECTD2 Gene

No Compound Related Data Available

Transcripts for HECTD2 Gene

mRNA/cDNA for HECTD2 Gene

4 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HECTD2

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

No ASD Table

Relevant External Links for HECTD2 Gene

GeneLoc Exon Structure for
HECTD2

Expression for HECTD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for HECTD2 Gene



Protein tissue co-expression partners for HECTD2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HECTD2

SOURCE GeneReport for Unigene cluster for HECTD2 Gene:

Hs.596096

Evidence on tissue expression from TISSUES for HECTD2 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with HECTD2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 99.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HECTD2 30 31
  • 93.43 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HECTD2 30 31
  • 92.77 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hectd2 30
  • 90.78 (n)
Mouse
(Mus musculus)
Mammalia Hectd2 30 17 31
  • 89.15 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HECTD2 31
  • 88 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HECTD2 31
  • 85 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HECTD2 30 31
  • 81.24 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HECTD2 31
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hectd2 30
  • 76.89 (n)
Zebrafish
(Danio rerio)
Actinopterygii hectd2 30 31
  • 70.66 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HUL4 31 33
  • 22 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.6373 30
Species where no ortholog for HECTD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Squirt (Ciona savignyi)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for HECTD2: view image

Paralogs for HECTD2 Gene

(13) SIMAP similar genes for HECTD2 Gene using alignment to 4 proteins:

  • HECD2_HUMAN
  • B3KV18_HUMAN
  • E7ERR3_HUMAN
  • L8ECN8_HUMAN
genes like me logo Genes that share paralogs with HECTD2: view

Variants for HECTD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HECTD2 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
768377 Benign: not provided 91,500,606(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
791305 Benign: not provided 91,500,570(+) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
rs7081569 - p.Pro19Ala

Additional dbSNP identifiers (rs#s) for HECTD2 Gene

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)

Additional Variant Information 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

Additional Disease Information for HECTD2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

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 (American journal of human genetics 2006) 3 41
  2. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W … Gibbs RA (Genome research 1997) 2 3

Products for HECTD2 Gene

Sources for HECTD2 Gene