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HERC2P3 Gene

pseudogene   GIFtS: 32
GCID: GC15M020589

Hect Domain And RLD 2 Pseudogene 3

  Search for HERC2P3
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Hect Domain And RLD 2 Pseudogene 31 2
D15F37S42

External Ids:    HGNC: 48711   Entrez Gene: 2837552   Ensembl: ENSG000001802297   UniProtKB: Q9BVR03   

Export aliases for HERC2P3 gene to outside databases

Previous GC identifers: GC15U990059 GC15M018849


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for HERC2P3 Gene:
HERC2P3 (hect domain and RLD 2 pseudogene 3) is a pseudogene. GO annotations related to this gene include ubiquitin-protein ligase activity.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NC_018926.2  NT_037852.7  
Regulatory elements:
   Search for regulatory transcription factor binding sites for HERC2P3
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for HERC2P3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HERC2P3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q11.1   Ensembl cytogenetic band:  15q11.2   HGNC cytogenetic band: 15q11.2

HERC2P3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HERC2P3 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M020589:  view genomic region     (about GC identifiers)

Start:
20,587,869 bp from pter      End:
20,711,433 bp from pter
Size:
123,565 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for HERC2P3

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HRC23_HUMAN, Q9BVR0 (See protein sequence)
Recommended Name: Putative HERC2-like protein 3  
Size: 1158 amino acids; 128943 Da
Caution: Could be the product of a pseudogene

Explore the universe of human proteins at neXtProt for HERC2P3: NX_Q9BVR0

Explore proteomics data for HERC2P3 at MOPED


See HERC2P3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR010606 Mib_Herc2

Graphical View of Domain Structure for InterPro Entry Q9BVR0

ProtoNet protein and cluster: Q9BVR0

UniProtKB/Swiss-Prot: HRC23_HUMAN, Q9BVR0
Similarity: Contains 1 MIB/HERC2 domain


Find genes that share domains with HERC2P3           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:
     Genatlas biochemistry entry for HERC2P3:
HECT domain and RLD2,pseudogene 3

     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004842ubiquitin-protein ligase activity IEA--
GO:0046872metal ion binding IEA--
     
Find genes that share ontologies with HERC2P3           About GenesLikeMe


Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HERC2P3
Interactions:

    Search GeneGlobe Interaction Network for HERC2P3

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for HERC2P3 (HRC23)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for HERC2P3 gene: 
NM_001024682.1  

Unigene Cluster for HERC2P3:

Hect domain and RLD 2 pseudogene 3
Hs.608918  [show with all ESTs]
Unigene Representative Sequence: BC033888
16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000426501 ENST00000428453(uc001ytg.3) ENST00000437318(uc010tyx.1)
ENST00000430598(uc001yth.4) ENST00000429257 ENST00000424611 ENST00000454045
ENST00000436934 ENST00000440441 ENST00000440774 ENST00000429926 ENST00000456027
ENST00000414804 ENST00000412154 ENST00000545640(uc010tyy.2 uc010tyz.1)
ENST00000544900
miRNA
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Additional mRNA sequence: 

AK294470.1 AK294795.1 BC000975.2 BC033888.1 BC094757.1 BC144698.1 NR_036432.1 X69636.1 

Selected DOTS entries (see all 28):

DT.102840141  DT.75182545  DT.121078929  DT.121078918  DT.121067087  DT.121078941  DT.100824634  DT.95259121 
DT.121067241  DT.121014310  DT.121067076  DT.95259149  DT.121078914  DT.121078926  DT.100037793  DT.102845477 
DT.121078899  DT.121078933  DT.121078940  DT.40206807  DT.70101511  DT.95337279  DT.100673996  DT.121014484 

Selected AceView cDNA sequences (see all 68):

AU124754 BC070076 CA393097 CD722532 BX495751 CA426342 BV192008 BV176030 
BP348597 AI867407 BC033888 BV198474 BM786540 BV198644 CA447645 BP360005 
BV183738 AW590501 BF935856 AI985804 BV166896 BX495326 BV198708 BP361551 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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HERC2P3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ACCTTCTTTA
HERC2P3 Expression
About this image

HERC2P3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

HERC2P3 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.608918
    Custom PCR Arrays for HERC2P3
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HERC2P3

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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ENSEMBL Gene Tree for HERC2P3 (if available)
TreeFam Gene Tree for HERC2P3 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for HERC2P3 gene
1 SIMAP similar gene for HERC2P3 using alignment to 1 protein entry:     HRC23_HUMAN:
HERC2

Find genes that share paralogs with HERC2P3           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for HERC2P3 (see all 847)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 15 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs18467491,2
C,F,A--20613155(-) ATGGAA/GCAAAC 1 -- int15Minor allele frequency- G:0.13WA NA CSA 15
rs766679271,2
C,F--20613277(+) ACCTTG/AAGGAA 1 -- int12Minor allele frequency- A:0.50NA 4
rs745498121,2
C,F--20613326(+) TATTGG/CCACAA 1 -- int12Minor allele frequency- C:0.50NA 4
rs19720361,2
C,F,A,H--20613415(-) TCTGCC/ACGGAA 1 -- int15Minor allele frequency- A:0.40NA CSA 10
rs19720351,2
C,F,A,H--20613425(-) CATTCA/GCCACT 1 -- int14Minor allele frequency- G:0.40NA CSA 10
rs285479091,2
C--20613649(+) TAGCAC/TTTCGG 1 -- nc-transcript-variant0--------
rs1123557171,2
C,F--20613691(+) TAATAG/ATGAGA 1 -- nc-transcript-variant2Minor allele frequency- A:0.50NA 4
rs114540641,2
C--20614036(+) TGGTAT/-TTTTT 1 -- int1 trp31Minor allele frequency- -:0.50CSA 2
rs49319891,2
C,F,A,H--20614059(+) TGTTAC/TAGACA 1 -- int17Minor allele frequency- T:0.07NS EA NA 546
rs579023461,2
C,F--20614087(+) AGAAGA/C/GTTCTT 1 -- int12NA 4

HapMap Linkage Disequilibrium report for HERC2P3 (20587869 - 20711433 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for HERC2P3 (see all 75):    About this table    
Variant IDTypeSubtypePubMed ID
nsv436198CNV Deletion17901297
nsv821092CNV Duplication20802225
dgv43n16CNV Insertion17901297
nsv821678CNV Loss15273396
dgv2086n71CNV Loss21882294
dgv95e55CNV Loss17911159
esv29956CNV Loss18421352
nsv1452CNV Loss18451855
nsv902697CNV Loss21882294
dgv96e55CNV Loss17911159

Site Specific Mutation Identification with PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for HERC2P3 gene integrated from 10 sources:
(articles sorted by number of sources associating them with HERC2P3)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes. (PubMed id 9730612)1, 3 Buiting K....Horsthemke B. (Cytogenet. Cell Genet. 1998)
  2. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
  3. Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)2 Zody M.C....Nusbaum C. (Nature 2006)
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  5. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (Nat. Biotechnol. 2004)
  6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  7. The ancestral gene for transcribed, low-copy repeats in the Prader- Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities. (PubMed id 9949213)1 Ji Y.... Nicholls R.D. (Hum. Mol. Genet. 1999)
  8. A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes. (PubMed id 1608955)1 Buiting K....Horsthemke B. (Proc. Natl. Acad. Sci. U.S.A. 1992)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 283755 HGNC: 4871 AceView: LOC283755 Ensembl:ENSG00000180229 euGenes: HUgn283755
ECgene: HERC2P3 H-InvDB: HERC2P3

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for HERC2P3 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for HERC2P3 gene:
Search GeneIP for patents involving HERC2P3

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Browse ProSpec Recombinant Proteins
 Browse Proteins at Cloud-Clone Corp.
 Browse Antibodies at Cloud-Clone Corp.
 Browse ELISAs at Cloud-Clone Corp.
 Browse CLIAs at Cloud-Clone Corp.



 Browse ESI BIO Cell Lines and PureStem Progenitors for HERC2P3
 Gene Synthesis
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 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HERC2P3
 Browse SwitchGear 3'UTR luciferase reporter plasmids for HERC2P3
 Browse SwitchGear Promoter luciferase reporter plasmids for HERC2P3
 Search ThermoFisher Antibodies for HERC2P3
 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HERC2P3
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HERC2P3
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HERC2P3
 Search LSBio for Antibodies for HERC2P3
Customized transgenic rodents for:
 Humanization
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 Tissue-specific gene expresssion
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 Browse compounds at ApexBio
 Search Addgene for plasmids for HERC2P3
  Search eBioscience for proteins for HERC2P3
  Search eBioscience for elisas for HERC2P3
  eBioscience FlowRNA Probe Sets
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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