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

POTEF Gene

protein-coding   GIFtS: 38
GCID: GC02M130831

POTE ankyrin domain family, member F

(Previous names: ANKRD26-like family C, member 1B )
(Previous symbol: A26C1B)
 Explore 4 diseases affiliated with
POTEF via our new
 Human Malady Compendium 
Biological research products
for POTEF
    

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

Aliases
POTE Ankyrin Domain Family, Member F1 2     ANKRD26-Like Family C Member 1B2 3
A26C1B1 2 3     ACTB2
POTE2alpha1 2     Beta Actin2
POTEACTIN1 2     POTE Ankyrin Domain Family Member F2
ANKRD26-Like Family C, Member 1B1 2     POTE-2 Alpha-Actin2
Chimeric POTE-Actin Protein2 3     Prostate, Ovary, Testis Expressed Protein On Chromosome 22

External Ids:    HGNC: 339051   Entrez Gene: 7283782   Ensembl: ENSG000001966047   UniProtKB: A5A3E03   

Export aliases for POTEF gene to outside databases

Previous GC identifer: GC02M130558


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

summary for POTEF:
Actin is a ubiquitous globular protein that is one of the most highly-conserved proteins known. It is found
in two main states; G-actin is the globular monomeric form, whereas F-actin forms helical polymers. Both G-
and F-actin are intrinsically flexible structures - a feature vital in actin's role as a dynamic filament
network. Actin has four major functions. Firstly, F-actin polymers form microfilaments - polar intracellular
'tracks' for kinesin motor proteins, allowing the transport of vesicles, organelles and other cargo. Actin
is a component of the cytoskeleton and links to alpha-actinin, E-cadherin and beta-catenin at adherens
junctions. This gives mechanical support to cells and attaches them to each other and the extracellular
matrix. In muscle cells, actin-rich thin filaments associate with myosin-rich thick filaments to form
actomyosin myofibrils. Using energy from the hydrolysis of ATP, myofibrils undergo cyclic shortening through
actin-myosin head interactions, which represents the mechanics of muscle contraction. Finally, actin has a
role in cell motility through polymerization and depolymerization of fibrils.




(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_000002.11  NC_018913.1  NT_022135.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the POTEF gene promoter:
         AML1a   NF-YA   HSF1 (long)   NF-YB   CBF-A   CBF-B   HSF1short   CP1A   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): POTEF promoter sequence
   Search SABiosciences Chromatin IP Primers for POTEF

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat POTEF


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

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M130831:  view genomic region     (about GC identifiers)

Start:
130,831,108 bp from pter      End:
130,886,795 bp from pter
Size:
55,688 bases      Orientation:
minus strand

(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: POTEF_HUMAN, A5A3E0 (See protein sequence)
Recommended Name: POTE ankyrin domain family member F  
Size: 1075 amino acids; 121445 Da
Subcellular location: Cytoplasm, cell cortex. Note=Colocalizes with actin filaments
Miscellaneous: Results from the insertion of a beta-actin fragment at the C-terminus in the POTEE paralog gene leading
to the formation of a new functional chimeric protein. This insertion occured before the divergence of the Old World
monkeys and apes
Secondary accessions: A6NC34

Explore the universe of human proteins at neXtProt for POTEF: NX_A5A3E0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_A5A3E0

  • POTEF Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001093241.1  
    ENSEMBL proteins: 
     ENSP00000386786   ENSP00000350052   ENSP00000354232   ENSP00000355012  

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    Uscn Proteins for POTEF

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005938cell cortex IEA--


    POTEF for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for POTEF


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

    POTEF for domains           About GeneDecksing

    5 InterPro domains/families:
     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 A5A3E0

    ProtoNet protein and cluster: A5A3E0

    UniProtKB/Swiss-Prot: POTEF_HUMAN, A5A3E0
    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


    (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

    miRNA
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    OriGene 3'-UTR Clone: POTEF
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat POTEF
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    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POTEF

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--


    POTEF 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 POTEF

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for POTEF (A5A3E03 ENSP000003500524) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UCHL5Q9Y5K53, ENSP000003564254I2D: score=1 STRING: ENSP00000356425
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (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

    Compounds for POTEF available from Tocris Bioscience    About this table
    CompoundAction CAS #
    187-1, N-WASP inhibitor Inhibits actin assembly[380488-27-7]
    Cytochalasin DDisrupts actin filament function[22144-77-0]
    Thymosin beta4Potent actin polymerization regulator[77591-33-4]
    Search CenterWatch for drugs/clinical trials and news about POTEF 

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for POTEF gene: 
    NM_001099771.2  

    Unigene Cluster for POTEF:

    POTE ankyrin domain family, member F
    Hs.580547  [show with all ESTs]
    Unigene Representative Sequence: NM_001099771
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409914 ENST00000357462(uc010fmh.2) ENST00000360967 ENST00000361163


    miRNA
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    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat POTEF
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate POTEF
    SwitchGear 3'UTR luciferase reporter plasmidPOTEF 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for POTEF
    OriGene shRNA RFP: POTEF
    OriGene siRNA: POTEF
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat POTEF
    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for POTEF
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for POTEF
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: POTEF (NM_001099771)
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat POTEF 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat POTEF
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat POTEF

    Additional cDNA sequence: 

    EF523384.1 HM358933.1 HM358938.1 HM358957.1 HM358969.1 HM358981.1 JN038572.1 

    3 DOTS entries:

    DT.92010774  DT.97779283  DT.99980275 

    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

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

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

    About this image
    See POTEF Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.580547

    UniProtKB/Swiss-Prot: POTEF_HUMAN, A5A3E0
    Tissue specificity: Expressed in breast cancer cell lines (at protein level)

        SABiosciences Custom PCR Arrays for POTEF
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POTEF

    (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

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for POTEF gene from 5/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ACTBL21 actin, beta-like 2 74.62(n)
    86.33(a)
      426652  XM_424279.3  XP_424279.1 
    lizard
    (Anolis carolinensis)
    Reptilia ANKRD626
    --
    37(a)
    1 → many
    GL344195.1(39104-48393)
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-272n13.36
    si:ch211-272n13.3
    7(a)
    1 → many
    25(3581527-3655709)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ACT41 actin 4 70.61(n)
    82.26(a)
      836056  NM_001085300.1  NP_001078769.1 
    rice
    (Oryza sativa)
    Liliopsida Os10g05100001 hypothetical protein 73.03(n)
    81.72(a)
      4349087  NM_001071569.1  NP_001065034.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for POTEF gene
    POTEE  POTEI2  ANKRD30A2  ANKRD362  ANKRD72  POTEB2  ANKRD30BL2  ANKRD20A32  
    POTEH2  ENSG000001552822  ANKRD30B2  ENSG000002663022  ANKRD36C2  POTEJ2  POTEC2  ANKRD20A22  
    POTEG2  ANKRD262  ANKRD622  ANKRD18A2  ENSG000001882192  POTEM2  ANKRD20A12  LOC1009963312  
    CCDC144A2  POTED2  ANKRD20A42  ANKRD18B2  LOC1002889662  
    18/55 SIMAP similar genes for POTEF using alignment to 3 protein entries:     POTEF_HUMAN (see all proteins) (see all similar genes):
    POTEE    ACTB    POTEKP    POTEI    ACTG1    ACTA2
    ACTC1    ACTG2    PS1TP5BP1    ACT    POTEM    ACTBL2
    POTEC    POTEA    POTEG    POTEJ    POTEH    POTED

    POTEF for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for POTEF
    PGOHUM00000233198


    (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

    10/388 NCBI SNPs in POTEF are shown (see all 388    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1932984921,2
    --130830826(+) GACTAA/CGTTGC 1 -- ds50010--------
    rs2017449441,2
    --130830872(+) CTCTC-/AGAGTTT 1 -- ds50010--------
    rs2022333771,2
    F--130831774(+) GTTTGG/ATTTTG 1 -- ut311Minor allele frequency- A:0.02EU 591
    rs2004283711,2
    F--130831839(+) GGACAA/GTGGAG 2 T I mis11Minor allele frequency- G:0.00EU 593
    rs2011470631,2
    F--130831904(+) AGCGAG/AGCCAG 2 /A syn11Minor allele frequency- A:0.01EU 593
    rs2002434091,2
    F--130832127(+) GGATGC/TCACAG 2 D G mis11Minor allele frequency- T:0.03EU 229
    rs1997598581,2
    F--130832189(+) CGCTCG/ATTGCC 2 /N syn11Minor allele frequency- A:0.01EU 593
    rs757751411,2
    C--130832292(+) CAACAA/TAGCAC 2 Y F mis10--------
    rs1854696111,2
    C,F,--130832364(+) GCTCGG/ATGAGG 2 /T /I mis11Minor allele frequency- A:0.01EU 473
    rs2012557351,2
    C,F--130832384(+) AGGTAG/TTCAGG 2 E D mis11Minor allele frequency- T:0.01EU 521

    HapMap Linkage Disequilibrium report for POTEF (130831108 - 130886795 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 10 variations for POTEF
         10 CNVs: 89970 0269 0024 3393 78762 89971 32364 32365 2408 8387

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing POTEF
    DNA2.0 Custom Variant and Variant Library Synthesis for POTEF

    (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

    POTEF for disorders           About GeneDecksing

    4 diseases for POTEF:    About MalaCards
    prostatitis    hepatocellular carcinoma    breast cancer    carcinoma


    Export disorders for POTEF 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 POTEF gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with POTEF)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Evolution and expression of chimeric POTE-actin genes in the human genome. (PubMed id 17101985)1, 2, 3 Lee Y.... Pastan I. (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. (2005)
    3. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    4. The interaction between ubiquitin C-terminal hydrolas e 37 and glucose-regulated protein 78 in hepatocellular carcinoma. (PubMed id 21800051)1 Fang Y....Shen X. (2012)
    5. Shotgun proteomics and network analysis of ubiquitin-r elated proteins from human breast carcinoma epithelial cells. (PubMed id 21853274)1 Zhou J....Liang S. (2012)
    6. A catalogue of putative HIV-1 protease host cell subst rates. (PubMed id 22944692)1 Impens F....Gevaert K. (2012)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    9. Integrative analysis of the ubiquitin proteome isolat ed using Tandem Ubiquitin Binding Entities (TUBEs). (PubMed id 22178446)1 Lopitz-Otsoa F....Rodriguez M.S. (2011)
    10. A primate-specific POTE-actin fusion protein plays a role in apoptosis. (PubMed id 19669888)1 Liu X.F....Pastan I. (2009)

    (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: 728378 HGNC: 33905 Ensembl:ENSG00000196604 euGenes: HUgn728378 ECgene: POTEF
    H-InvDB: POTEF

    (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 POTEF 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 POTEF gene:
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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