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HERC2P2 Gene

pseudogene   GIFtS: 27
GCID: GC15M023283

Hect Domain And RLD 2 Pseudogene 2

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(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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 5.2

Aliases
Hect Domain And RLD 2 Pseudogene 21 2
D15F37S32
MN72

External Ids:    HGNC: 48701   Entrez Gene: 4003222   Ensembl: ENSG000001401817   
ORGUL members:    fRNAdb10:FR128387 FR060365 FR093344 FR147870      
NCBI13:AF041080 XR_000150 AF041081    
NONCODE14:n405658 n346545 n345979 n325598 n345913 see all 6    
RNAdb15:EVF38802 LIT2190 LIT2046 LIT2191    

Export aliases for HERC2P2 gene to outside databases

Previous GC identifers: GC15U990060 GC15M020836


(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 HERC2P2 Gene:
HERC2P2 (hect domain and RLD 2 pseudogene 2) is a pseudogene, and is affiliated with the lncRNA class.

fRNAdb sequence ontologies for HERC2P2 - the ORGUL cluster for this gene includes several descriptions:
nc_conserved_region - Non-coding region of sequence similarity by descent from a common ancestor.
mature_transcript - A transcript which has undergone the necessary modifications, if any, for its function. In eukaryotes this includes, for example, processing of introns, cleavage, base modification, and modifications to the 5' and/or the 3' ends, other than addition of bases. In bacteria functional mRNAs are usually not modified.

View fRNAdb secondary structures for HERC2P2

(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_078094.3  NT_187604.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the HERC2P2 gene promoter:
         NF-1/L   NF-1   AP-1   Pbx1a   Pax-6   POU3F1   Bach2   HSF1 (long)   CUTL1   HSF1short   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for HERC2P2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HERC2P2


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

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

HERC2P2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HERC2P2 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M023283:  view genomic region     (about GC identifiers)

Start:
23,282,265 bp from pter      End:
23,378,259 bp from pter
Size:
95,995 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for HERC2P2

(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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB: --


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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 HERC2P2:
HECT domain and RLD2,pseudogene 2

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for HERC2P2

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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 HERC2P2
Interactions:

    Search GeneGlobe Interaction Network for HERC2P2

(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 HERC2P2



(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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1 fRNAdb Secondary structure:


Unigene Clusters for HERC2P2:

Hect domain and RLD 2 pseudogene 2
Hs.458334  [show with all ESTs], Hs.531509  [show with all ESTs]
Unigene Representative Sequences: NR_002824, BC047911
7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000560464(uc001yvr.2 uc010ayf.1) ENST00000558398 ENST00000559650
ENST00000559970 ENST00000559248 ENST00000422607 ENST00000454333(uc001yvq.2 uc001yvo.4 uc001yvp.4)

miRNA
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Additional mRNA sequence: 

AF129930.1 AK293512.1 AK293845.1 BC047911.1 BC128547.1 BC128548.1 NR_036443.1 

Selected DOTS entries (see all 49):

DT.97813432  DT.102845477  DT.121067241  DT.95259122  DT.95259149  DT.91745462  DT.102845476  DT.97817919 
DT.121014410  DT.70101511  DT.100037793  DT.121067300  DT.121014287  DT.95259129  DT.116046  DT.91793894 
DT.121014383  DT.40132846  DT.95259134  DT.121067108  DT.121078899  DT.95238106  DT.100824634  DT.100824636 

Selected AceView cDNA sequences (see all 247):

CB178407 BX280364 BU076322 AV704256 CD722602 AL706231 N57882 AI262791 
BM973323 CD365677 AK095014 BU076589 AI498435 BX505447 AI309915 CK430067 
AI888613 AA730992 AI340134 AA976147 R32179 AI635907 AL705303 AI285536 

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for HERC2P2 (see all 18)    About this scheme

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b ·
SP1:                                      -     -     -                                                                                               -         
SP2:                                      -     -     -                                                                                               -         
SP3:                                                              -                                                                                             
SP4:                                                                                                                                                            
SP5:                                                                                                                                                            

ExUns: 17c ^ 18a · 18b · 18c · 18d ^ 19a · 19b · 19c ^ 20a · 20b · 20c · 20d ^ 21 ^ 22a · 22b · 22c ^ 23 ^ 24 ^ 25a · 25b ^ 26a · 26b ^ 27 ^ 28a · 28b ^ 29 ^
SP1:                                                                                            -                 -           -                                 
SP2:                                                                                            -                 -           -           -                     
SP3:                                                                                                                                                            
SP4:                                                                                                                                                            
SP5:                                                                    -                                                                                       

ExUns: 30 ^ 31 ^ 32a · 32b ^ 33a · 33b ^ 34 ^ 35a · 35b · 35c ^ 36 ^ 37a · 37b · 37c · 37d
SP1:              -                                                                           
SP2:              -                                         -     -     -                     
SP3:                                                                                          
SP4:                                                                                          
SP5:                                                                                          


ECgene alternative splicing isoforms for HERC2P2

(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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HERC2P2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
HERC2P2 Expression
About this image

HERC2P2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

HERC2P2 Protein Expression

SOURCE GeneReport for Unigene clusters: Hs.458334 Hs.531509
    Custom PCR Arrays for HERC2P2
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In Situ
Assay Products:
 

 
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(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 HERC2P2 (if available)
TreeFam Gene Tree for HERC2P2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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(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 HERC2P2 (see all 477)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 15 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs2006541621,2
C--23281839(+) AGAATA/GTTAGA 1 -- ds50010--------
rs2022162721,2
--23281943(+) GATTC-/TATGTCA 1 -- ds50010--------
rs1407796141,2
C--23282211(+) TACTGA/TTTTAA 1 -- ds50010--------
rs1500768011,2
C--23282239(+) TCATCA/GATGCA 1 -- ds50010--------
rs2020384911,2
--23282431(+) GATAT-/ACAGTCA 1 -- nc-transcript-variant0--------
rs1886743001,2
--23282455(+) ATTAAC/TTGGTT 1 -- nc-transcript-variant0--------
rs1914236381,2
--23282486(+) AATCAA/TGTATG 1 -- nc-transcript-variant0--------
rs759442891,2
C--23282508(+) TAAAGA/CAGCAG 1 -- nc-transcript-variant0--------
rs1871901321,2
--23282522(+) AGATGA/GAGCTA 1 -- nc-transcript-variant0--------
rs2007588311,2
C--23282535(+) AAAAA-/AAAAGAG 1 -- nc-transcript-variant0--------

HapMap Linkage Disequilibrium report for HERC2P2 (23282265 - 23378259 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for HERC2P2 (see all 19):    About this table    
Variant IDTypeSubtypePubMed ID
dgv44n16CNV Insertion17901297
esv1010587CNV Loss20482838
esv2474417CNV Loss19546169
nsv903576CNV Loss21882294
nsv832928CNV Gain17160897
dgv2249n71CNV Gain21882294
nsv433429CNV Gain18776910
nsv832927CNV Gain17160897
nsv433430CNV Gain18776910
nsv903573CNV Gain21882294

Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing HERC2P2
DNA2.0 Custom Variant and Variant Library Synthesis for HERC2P2

(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 HERC2P2 gene, integrated from 10 sources (see all 11):
(articles sorted by number of sources associating them with HERC2P2)
    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. Defining the human deubiquitinating enzyme interaction landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (Cell 2009)
  3. Disrupted in Schizophrenia 1 Interactome: evidence for the close connectivity of risk genes and a potential synaptic basis for schizophrenia. (PubMed id 17043677)1 Camargo L.M....Brandon N.J. (Mol. Psychiatry 2007)
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 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. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)1 Nagase T.... Ohara O. (DNA Res. 1997)
  9. 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)
  10. (PubMed id 16628248)10 

(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: 400322 HGNC: 4870 AceView: LOC400322 Ensembl:ENSG00000140181 euGenes: HUgn400322
ECgene: HERC2P2 H-InvDB: HERC2P2

(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 HERC2P2 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 HERC2P2 gene:
Search GeneIP for patents involving HERC2P2

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, eBioscience, antibodies-online, 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 genOway)
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 Browse OriGene ORF clones   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
 OriGene Custom Antibody Services for HERC2P2   OriGene Custom Protein Services for HERC2P2  

 
 
 Block miRNA regulation of human, mouse, rat HERC2P2 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing HERC2P2
 DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HERC2P2 Predesigned siRNA for gene silencing in human, mouse, rat HERC2P2
 QuantiFast Probe-based Assays in human, mouse, rat HERC2P2 QuantiTect SYBR Green Assays in human, mouse, rat HERC2P2
 Custom PCR Arrays for HERC2P2 Search Chromatin IP Primers for HERC2P2
 Pre-validated RT2 qPCR Primer Assay in human, mouse / rat HERC2P2  Search GeneGlobe Interaction Network for HERC2P2
 Regulatory tfbs in HERC2P2 promoter
 GenScript Custom Purified and Recombinant Proteins Services for HERC2P2 GenScript Custom cDNA clones with any tag delivered in your preferred vector Services for HERC2P2
 GenScript Custom Assay Services for HERC2P2 GenScript Custom overexpressing Cell Line Services for HERC2P2
 CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
 Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
 Plasmid Preparation Custom Peptide Services
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 Search Tocris compounds for HERC2P2
 Browse Sino Biological Proteins
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 Protein Production Services
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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

 Novus Biologicals
 Novus Tissue Slides
 Search for Antibodies for HERC2P2 at Abcam
 See all of Abcam's Antibodies, Kits and Proteins for HERC2P2
 Custom Antibody / Protein Production Service
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 Browse ProSpec Recombinant Proteins
 Browse Proteins at Cloud-Clone Corp.
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 Browse ESI BIO Cell Lines and PureStem Progenitors for HERC2P2
 Gene Synthesis
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 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HERC2P2
 Browse SwitchGear 3'UTR luciferase reporter plasmids for HERC2P2
 Browse SwitchGear Promoter luciferase reporter plasmids for HERC2P2
 Search ThermoFisher Antibodies for HERC2P2
 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HERC2P2
 Browse compounds at ApexBio
 Search Addgene for plasmids for HERC2P2
  Search eBioscience for proteins for HERC2P2
  Search eBioscience for elisas for HERC2P2
  eBioscience FlowRNA Probe Sets
 genOway: Develop your customized and physiologically relevant rodent model for HERC2P2
  Search antibodies-online for antibodies for HERC2P2
  Search antibodies-online for kits for HERC2P2
  Search antibodies-online for peptides for HERC2P2
  Search antibodies-online for proteins for HERC2P2
       
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 , 7 Oct 2014

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