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POTEJ Gene

protein-coding   GIFtS: 30
GCID: GC02P131370

POTE Ankyrin Domain Family, Member J

  See related diseases
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
POTE Ankyrin Domain Family, Member J1 2
POTE2beta2
POTE Ankyrin Domain Family Member J2

External Ids:    HGNC: 370941   Entrez Gene: 6537812   Ensembl: ENSG000002220387   UniProtKB: P0CG393   

Export aliases for POTEJ gene to outside databases

Previous GC identifer: GC00U926668


(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 POTEJ Gene:
POTEJ (POTE ankyrin domain family, member J) is a protein-coding gene. Diseases associated with POTEJ include hepatocellular carcinoma, and prostate cancer. An important paralog of this gene is POTEF.


(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:
NC_000002.12  NC_018913.2  NT_005403.18  
Regulatory elements:
   Search for regulatory transcription factor binding sites for POTEJ
         Other transcription factors

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

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


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

Entrez Gene cytogenetic band: 2q21.1   Ensembl cytogenetic band:  2q21.1   HGNC cytogenetic band: 2q21.1

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P131370:  view genomic region     (about GC identifiers)

Start:
131,369,054 bp from pter      End:
131,415,664 bp from pter
Size:
46,611 bases      Orientation:
plus strand

(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: POTEJ_HUMAN, P0CG39 (See protein sequence)
Recommended Name: POTE ankyrin domain family member J  
Size: 1038 amino acids; 117390 Da

Explore the universe of human proteins at neXtProt for POTEJ: NX_P0CG39

Explore proteomics data for POTEJ at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys747, Lys876
  • Modification sites at PhosphoSitePlus

  • See POTEJ Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001264012.1  
    ENSEMBL proteins: 
     ENSP00000387176  

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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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    HGNC Gene Families:
    POTE: POTE ankyrin domain containing
    ANKRD: Ankyrin repeat domain containing

    5 InterPro protein domains:
     IPR020902 Actin/actin-like_CS
     IPR002110 Ankyrin_rpt
     IPR004001 Actin_CS
     IPR020683 Ankyrin_rpt-contain_dom
     IPR004000 Actin-related

    Graphical View of Domain Structure for InterPro Entry P0CG39

    ProtoNet protein and cluster: P0CG39

    UniProtKB/Swiss-Prot: POTEJ_HUMAN, P0CG39
    Similarity: In the N-terminal section; belongs to the POTE family
    Similarity: In the C-terminal section; belongs to the actin family
    Similarity: Contains 5 ANK repeats


    POTEJ for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    POTEJ for ontologies           About GeneDecksing


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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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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton3
    cytosol3
    golgi apparatus3
    nucleus3
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--

    POTEJ for ontologies           About GeneDecksing


    (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 POTEJ
    Interactions:

        Search GeneGlobe Interaction Network for POTEJ

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for POTEJ (ENSP000003871764) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZNHIT1ENSP000003045934STRING: ENSP00000304593
    UBCENSP000003448184STRING: ENSP00000344818
    ACTR5ENSP000002439034STRING: ENSP00000243903
    ACTR8ENSP000003368424STRING: ENSP00000336842
    VPS72ENSP000003578874STRING: ENSP00000357887
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001895retina homeostasis IEP--

    POTEJ for ontologies           About GeneDecksing



    (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 POTEJ



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for POTEJ gene: 
    NM_001277083.1  

    Unigene Cluster for POTEJ:

    POTE ankyrin domain family, member J
    Hs.558829
    Unigene Representative Sequence: NM_001277083
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000409602
    miRNA
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    Primer
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    Additional mRNA sequence: 

    HM358950.1 HM358962.1 HM358992.1 HM358994.1 

    1 DOTS entry:

    DT.92010774 

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

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

    POTEJ Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.558829
        Custom PCR Arrays for POTEJ
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POTEJ

    (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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    This gene was present in the common ancestor of chordates.

    Orthologs for POTEJ gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    12(a)
    1 → many
    1(24064036-24111623)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    37(a)
    many ↔ many
    GL344195.1(38786-58936)
    zebrafish
    (Danio rerio)
    Actinopterygii ANKRD76
    ankyrin repeat domain 7
    8(a)
    1 → many
    25(3581527-3655709) ENSDARG00000013015
            Species with no ortholog for POTEJ

    ENSEMBL Gene Tree for POTEJ (if available)
    TreeFam Gene Tree for POTEJ (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for POTEJ gene
    POTEF2  POTEI2  ANKRD30A2  POTEB22  ANKRD362  ANKRD72  POTEB2  ANKRD30BL2  
    ANKRD20A32  POTEH2  ANKRD30B2  LOC6442492  ENSG000002663022  ANKRD36C2  POTEC2  ANKRD20A22  
    ANKRD262  POTEG2  ANKRD622  ANKRD18A2  POTEM2  ANKRD20A12  CCDC144A2  POTED2  
    POTEE2  ANKRD20A42  ANKRD18B2  LOC1002889662  
    Selected SIMAP similar genes for POTEJ using alignment to 1 protein entry:     POTEJ_HUMAN(see all similar genes):
    POTEKP    ACTB    POTEI    PS1TP5BP1    ACTA2    ACTC1
    ACTG1    ACTG2    POTEE    ACTBL2    POTEF    POTEA
    POTEH    POTEM    ANKRD36BP1    ACTR1A    ACTR1B    POTEC

    POTEJ for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for POTEJ
    PGOHUM00000240944 PGOHUM00000249325


    (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 POTEJ (see all 468)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs568487281,2
    C--130867842(-) ATAAA-/TAAA/ 
    TAAATAAA
    ATAGA
    1 -- us2k11NA 2
    rs2022116741,2
    C--130867843(+) ATCTA-/TTTA  
            
    TTATT
    1 -- us2k10--------
    rs170402551,2
    F--130868233(-) CTGTCC/TCATCC 1 -- us2k13Minor allele frequency- T:0.05NA 136
    rs18144281,2
    C,A,H--130868685(+) TGTCCC/TGGGGG 1 -- us2k14Minor allele frequency- T:0.00NA WA 8
    rs1861651371,2
    --130868685(+) TGTCCC/TGGGGG 1 -- us2k10--------
    rs1904217391,2
    --130868774(+) ACCAGA/CGGCTT 1 -- us2k10--------
    rs67241181,2
    C,H--130868805(-) TGGGAG/CTCAGC 1 -- us2k14Minor allele frequency- C:0.00NA WA 8
    rs1436283061,2
    C--130868953(+) CACGCC/TGCACG 1 -- us2k10--------
    rs2012161161,2
    C--130870469(+) AAATAC/TGTTCT 1 -- int10--------
    rs1816930461,2
    --130871302(+) ATATAC/TGCAGA 1 -- int10--------

    HapMap Linkage Disequilibrium report for POTEJ (131369054 - 131415664 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for POTEJ: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing POTEJ
    DNA2.0 Custom Variant and Variant Library Synthesis for POTEJ

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    3 diseases for POTEJ:    
    About MalaCards
    hepatocellular carcinoma    prostate cancer    prostatitis


    POTEJ for disorders           About GeneDecksing


    Export disorders for POTEJ 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)
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    PubMed articles for POTEJ gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with POTEJ)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Duplication and extensive remodeling shaped POTE family genes encoding proteins containing ankyrin repeat and coiled coil domains. (PubMed id 16364570)1, 3 Hahn Y.... Lee B. (Gene 2006)
    2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    3. Shotgun proteomics and network analysis of ubiquitin-related proteins from human breast carcinoma epithelial cells. (PubMed id 21853274)1 Zhou J....Liang S. (Mol. Cell. Biochem. 2012)
    4. The cellular EJC interactome reveals higher-order mRNP structure and an EJC-SR protein nexus. (PubMed id 23084401)1 Singh G....Moore M.J. (Cell 2012)
    5. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    6. Discovery of a long inverted repeat in human POTE genes. (PubMed id 19463943)1 Wang Y. and Leung F.C. (Genomics 2009)
    7. Selective POTE paralogs on chromosome 2 are expressed in human embryonic stem cells. (PubMed id 18447647)1 Bera T.K....Pastan I. (Stem Cells Dev. 2008)
    8. Evolution and expression of chimeric POTE-actin genes in the human genome. (PubMed id 17101985)1 Lee Y.... Pastan I. (Proc. Natl. Acad. Sci. U.S.A. 2006)
    9. Identification of a novel actin isoform in hepatocellular carcinoma. (PubMed id 16824795)1 Chang K.-W.... Yeh C.-T. (Hepatol. Res. 2006)
    10. POTE paralogs are induced and differentially expressed in many cancers. (PubMed id 16397215)1 Bera T.K....Pastan I. (Cancer Res. 2006)

    (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: 653781 HGNC: 37094 Ensembl:ENSG00000222038 euGenes: HUgn653781 ECgene: POTEJ
    H-InvDB: POTEJ

    (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 POTEJ 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 POTEJ gene:
    Search GeneIP for patents involving POTEJ

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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