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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HERC2P3 Gene

pseudogene   GIFtS: 33
GCID: GC15M020589

hect domain and RLD 2 pseudogene 3

 Explore 1 disease affiliated with
HERC2P3 via our new
 Human Malady Compendium 
Biological research products
for HERC2P3
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

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

Quality score for the ORGUL clustered with this gene is 3

Aliases
Hect Domain And RLD 2 Pseudogene 31 2
D15F37S41 2
LOC2837551

External Ids:    HGNC: 48711   Entrez Gene: 2837552   Ensembl: ENSG000001802297   UniProtKB: Q9BVR03   
ORGUL members:         
NONCODE:n410005 n386099 n346039 n346336    

Export aliases for HERC2P3 gene to outside databases

Previous GC identifers: GC15U990059 GC15M018849


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.1  NT_037852.6  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for HERC2P3
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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)

  • n410005
  • n346039
  • n346336
  • n386099
20613649 20662541 20711433 chr15

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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

HERC2P3 Protein expression data from MOPED and PaxDb: --

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HERC2P3 for domains           About GeneDecksing

1 InterPro domain/family:
 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


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:
     Genatlas biochemistry entry for HERC2P3:
HECT domain and RLD2,pseudogene 3

miRNA
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Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004842ubiquitin-protein ligase activity IEA--
GO:0046872metal ion binding IEA--


HERC2P3 for ontologies           About GeneDecksing



(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HERC2P3

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HERC2P3
Search CenterWatch for drugs/clinical trials and news about HERC2P3 

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
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About This Section

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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Inhib. RNA
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Additional cDNA sequence: 

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

24/28 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 

24/68 AceView cDNA sequences (see all 68):

CA393097 CD722532 AU124754 BC070076 BC000975 BV193326 AA332456 BF507782 
BG388015 AA757355 BV198625 BM786540 BX495751 BV192008 CA426342 BP348597 
BV176030 BV198475 BM011742 BV176429 N69360 BV183738 BF510943 AI985804 

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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

HERC2P3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACCTTCTTTA

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)

About this image
Genevestigator expression for HERC2P3

SOURCE GeneReport for Unigene cluster: Hs.608918
    SABiosciences Custom PCR Arrays for HERC2P3
Primer
Products:
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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)
About This Section
  --

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)
About This Section
  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/566 NCBI SNPs in HERC2P3 are shown (see all 566    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
rs1123557171,2
C,F--20613691(+) TAATAG/ATGAGA 1 -- nc-transcript-variant2Minor allele frequency- A:0.50NA 4
rs114540641,2
C,--20614035(+) 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
rs595253351,2
C--20614233(+) CCACAC/TACGGA 1 -- int11Minor allele frequency- T:0.50WA 2

HapMap Linkage Disequilibrium report for HERC2P3 (20587869 - 20711433 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for HERC2P3: --

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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.)
About This Section

HERC2P3 for disorders           About GeneDecksing

1 disease for HERC2P3:    About MalaCards
angelman syndrome


Export disorders for HERC2P3 gene to outside databases

(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)
About This Section

PubMed articles for HERC2P3 gene integrated from 9 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. (1998)
  2. Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)2 Zody M.C....Nusbaum C. (2006)
  3. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (2004)
  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. (2004)
  5. 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. (2002)
  6. 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. (1999)
  7. 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. (1992)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 283755 HGNC: 4871 AceView: LOC283755 Ensembl:ENSG00000180229 euGenes: HUgn283755
ECgene: HERC2P3 H-InvDB: HERC2P3

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
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.)
About This Section
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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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von Willebrand factor
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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