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REPS2 Gene

protein-coding   GIFtS: 55
GCID: GC0XP016874

RALBP1 Associated Eps Domain Containing 2

  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
RALBP1 Associated Eps Domain Containing 21 2
POB12 3 5
Partner Of RalBP12 3
RalBP1-Interacting Protein 22 3
Partner Of Ral-Binding Protein 12
RalBP1-Associated Eps Domain-Containing Protein 22

External Ids:    HGNC: 99631   Entrez Gene: 91852   Ensembl: ENSG000001698917   OMIM: 3003175   UniProtKB: Q8NFH83   

Export aliases for REPS2 gene to outside databases

Previous GC identifers: GC0XM016700 GC0XP015813 GC0XP016166 GC0XP016326 GC0XP016724 GC0XP014724


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for REPS2 Gene:
The product of this gene is part of a protein complex that regulates the endocytosis of growth factor receptors.
The encoded protein directly interacts with a GTPase activating protein that functions downstream of the small G
protein Ral. Its expression can negatively affect receptor internalization and inhibit growth factor signaling.
Multiple transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jul
2008)

GeneCards Summary for REPS2 Gene:
REPS2 (RALBP1 associated Eps domain containing 2) is a protein-coding gene. Diseases associated with REPS2 include prostate cancer, and intellectual disability. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is REPS1.

UniProtKB/Swiss-Prot: REPS2_HUMAN, Q8NFH8
Function: Involved in growth factor signaling through its influence on the Ral signaling pathway

Gene Wiki entry for REPS2 Gene


(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_000023.11  NT_167197.2  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the REPS2 gene promoter:
         Nkx3-1   Nkx3-1 v4   AML1a   Egr-1   Nkx3-1 v1   AREB6   Nkx3-1 v2   FOXO1a   Nkx3-1 v3   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidREPS2 promoter sequence
   Search Chromatin IP Primers for REPS2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat REPS2


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

Entrez Gene cytogenetic band: Xp22.2   Ensembl cytogenetic band:  Xp22.2   HGNC cytogenetic band: Xp22.2

REPS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
REPS2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP016874:  view genomic region     (about GC identifiers)

Start:
16,964,814 bp from pter      End:
17,171,403 bp from pter
Size:
206,590 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: REPS2_HUMAN, Q8NFH8 (See protein sequence)
Recommended Name: RalBP1-associated Eps domain-containing protein 2  
Size: 660 amino acids; 71534 Da
Subunit: Interacts with ASAP1 and this complex can bind paxillin. May form a ternary complex with RALBP1 and ASAP1
(By similarity). Interacts with RALBP1 and GRB2. Binding to RALBP1 does not affect the Ral-binding activity of
the latter. It can form a ternary complex with activated Ral and RALBP1. Binds EPN1
1 PDB 3D structure from and Proteopedia for REPS2:
1IQ3 (3D)    
Secondary accessions: A6PWZ6 O43428 Q5JNZ8 Q8NFI5
Alternative splicing: 4 isoforms:  Q8NFH8-1   Q8NFH8-2   Q8NFH8-3   Q8NFH8-4   

Explore the universe of human proteins at neXtProt for REPS2: NX_Q8NFH8

Explore proteomics data for REPS2 at MOPED

Post-translational modifications: 

  • EGF stimulates phosphorylation on Tyr-residues and induces complex formation with EGF receptor through an adapter
    protein such as GRB21
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See REPS2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001074444.1  NP_004717.2  

    ENSEMBL proteins: 
     ENSP00000349824   ENSP00000306033   ENSP00000369404  

    REPS2 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for REPS2
    OriGene MassSpec for REPS2
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    GenScript Custom Purified and Recombinant Proteins Services for REPS2
    Novus Biologicals REPS2 Protein
    Novus Biologicals REPS2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for REPS2

    REPS2 Antibody Products:

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    Abcam antibodies for REPS2
    Cloud-Clone Corp. Antibodies for REPS2
    Search ThermoFisher Antibodies for REPS2
    LSBio Antibodies in human, mouse, rat for REPS2

    REPS2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for REPS2
    Cloud-Clone Corp. CLIAs for REPS2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFHAND: EF-hand domain containing

    5 InterPro protein domains:
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR026814 Reps
     IPR000261 EPS15_homology
     IPR018247 EF_Hand_1_Ca_BS

    Graphical View of Domain Structure for InterPro Entry Q8NFH8

    ProtoNet protein and cluster: Q8NFH8

    1 Blocks protein domain: IPB000261 EPS15 homology (EH)

    UniProtKB/Swiss-Prot: REPS2_HUMAN, Q8NFH8
    Similarity: Contains 1 EF-hand domain
    Similarity: Contains 2 EH domains


    REPS2 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: REPS2_HUMAN, Q8NFH8
    Function: Involved in growth factor signaling through its influence on the Ral signaling pathway

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI18154663
         
    REPS2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for REPS2:
     Increased cilium length after  

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for REPS2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for REPS2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for REPS2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for REPS2

    miRNA
    Products:
        
    miRTarBase miRNAs that target REPS2:
    hsa-mir-335-5p (MIRT017427)

    Block miRNA regulation of human, mouse, rat REPS2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate REPS2 (see all 137):
    hsa-miR-124* hsa-miR-579 hsa-miR-100* hsa-miR-199a-3p hsa-miR-106a hsa-miR-138-2* hsa-miR-519a hsa-miR-149
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat REPS2

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for REPS2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): REPS2 (NM_001080975)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for REPS2
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat REPS2

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for REPS2
    Browse ESI BIO Cell Lines and PureStem Progenitors for REPS2 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for REPS2


    (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 UniProtKB/Swiss-Prot
    REPS2_HUMAN, Q8NFH8: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    REPS2 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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    SuperPaths for REPS2 About    
    See pathways by source

    SuperPathContained pathways About
    1EGFR1 Signaling Pathway
    EGFR1 Signaling Pathway
    2Cytoskeleton remodeling RalB regulation pathway
    Cytoskeleton remodeling RalB regulation pathway
    3Cytoskeleton remodeling RalA regulation pathway
    Cytoskeleton remodeling RalA regulation pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 GeneGo (Thomson Reuters) Pathways for REPS2
        Cytoskeleton remodeling RalB regulation pathway
    Cytoskeleton remodeling RalA regulation pathway

    1 BioSystems Pathway for REPS2
        EGFR1 Signaling Pathway


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for REPS2
    Interactions:

        Search GeneGlobe Interaction Network for REPS2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for REPS2 (Q8NFH81, 2, 3 ENSP000003498244) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GRB2P629931, 2, 3, ENSP000003390074EBI-8029141,EBI-401755 MINT-7027552 MINT-7027478 MINT-7027533 MINT-7027633 MINT-7027690 MINT-7027593 MINT-7027493 MINT-7027672 I2D: score=1 STRING: ENSP00000339007
    Eps15P425671, 2EBI-7067016,EBI-443923 MINT-7033185 MINT-7033252 MINT-7033147 MINT-7033230 MINT-7033161 MINT-7033200 MINT-7033284 MINT-7033120 MINT-7033268 MINT-7033215
    BIN1O004991, 2, ENSP000003167794EBI-8029141,EBI-719094 MINT-7027462 MINT-7027569 MINT-7027512 MINT-7027708 MINT-7027613 MINT-7027653 STRING: ENSP00000316779
    EPN1Q9Y6I32, 3, ENSP000004062094MINT-19262 MINT-51395 I2D: score=2 STRING: ENSP00000406209
    SFNP319471, 2, ENSP000003409894EBI-8029141,EBI-476295 MINT-7032292 MINT-7032407 STRING: ENSP00000340989
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006461protein complex assembly TAS9422736
    GO:0006898receptor-mediated endocytosis ----
    GO:0007173epidermal growth factor receptor signaling pathway TAS9422736

    REPS2 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 REPS2



    (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 REPS2 gene (2 alternative transcripts): 
    NM_001080975.1  NM_004726.2  

    Unigene Cluster for REPS2:

    RALBP1 associated Eps domain containing 2
    Hs.186810  [show with all ESTs]
    Unigene Representative Sequence: NM_004726
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000357277(uc004cxv.1 uc004cxw.1) ENST00000303843(uc011miw.1)
    ENST00000481792 ENST00000469714 ENST00000470686 ENST00000380064
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat REPS2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate REPS2 (see all 137):
    hsa-miR-124* hsa-miR-579 hsa-miR-100* hsa-miR-199a-3p hsa-miR-106a hsa-miR-138-2* hsa-miR-519a hsa-miR-149
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for REPS2
    Predesigned siRNA for gene silencing in human, mouse, rat REPS2
    Clone
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    OriGene clones in human, mouse for REPS2 (see all 13)
    OriGene ORF clones in mouse, rat for REPS2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): REPS2 (NM_001080975)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for REPS2
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat REPS2
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for REPS2
    OriGene qSTAR qPCR primer pairs in human, mouse for REPS2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat REPS2
      QuantiTect SYBR Green Assays in human, mouse, rat REPS2
      QuantiFast Probe-based Assays in human, mouse, rat REPS2

    Additional mRNA sequence: 

    AB208937.1 AF010233.1 AF511533.1 AF512951.1 AK097484.1 AK298913.1 

    8 DOTS entries:

    DT.313542  DT.112413  DT.95280566  DT.97838267  DT.99979111  DT.121292379  DT.203412  DT.92033672 

    Selected AceView cDNA sequences (see all 48):

    BM725284 CB529874 N89827 AI346893 AW297955 AF511533 CK820948 AI281353 
    CB529363 CK820947 AF010233 AA771947 BM789376 NM_004726 AF512951 CA447647 
    BM677725 AA191588 AK057127 BU736676 BM709908 AL706678 AI582976 BM770902 

    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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    REPS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGTGAAACT
    REPS2 Expression
    About this image


    REPS2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Epithelial Cells
             Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Bone (Muscoskeletal System)
             HyStem+TGFbeta3+GDF5-induced 7SMOO32 cells
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Cartilage (Muscoskeletal System)
             HyStem+TGFbeta3+GDF5-induced 7SMOO32 cells
     
     Eye (Sensory Organs)
             Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
    REPS2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    REPS2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.186810

    UniProtKB/Swiss-Prot: REPS2_HUMAN, Q8NFH8
    Tissue specificity: Expressed at high levels in the cerebrum, cerebellum, lung, kidney, and testis. Weakly
    expressed in the kidney. Relatively highly expressed in androgen-dependent as compared to androgen-independent
    prostate cancer cell lines and xenografts. Isoform 2 is down-regulated during progression of prostate cancer

        Custom PCR Arrays for REPS2
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    QuantiFast Probe-based Assays in human, mouse, rat REPS2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for REPS2

    (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 animals.

    Orthologs for REPS2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Reps21 , 5 RALBP1 associated Eps domain containing protein 21, 5 88.29(n)1
    89.24(a)1
      X (74.67 cM)5
    1945901  NM_178256.31  NP_839987.21 
     1624119545 
    chicken
    (Gallus gallus)
    Aves REPS21 RALBP1 associated Eps domain containing 2 69.71(n)
    68.68(a)
      418617  NM_001030806.1  NP_001025977.1 
    lizard
    (Anolis carolinensis)
    Reptilia REPS26
    RALBP1 associated Eps domain containing 2
    60(a)
    1 ↔ 1
    3(122156793-122255290)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.151492 Xenopus laevis transcribed sequence with weak similarity more 73.07(n)    BJ067014.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1018829361 ralBP1-associated Eps domain-containing protein 2-like 57.05(n)
    53.24(a)
      101882936  XM_005162411.1  XP_005162468.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Reps6
    --
    20(a)
    1 → many
    2L(11100963-11106652)


    ENSEMBL Gene Tree for REPS2 (if available)
    TreeFam Gene Tree for REPS2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for REPS2 gene
    REPS12  EPS15L12  EHD32  EHD22  EHD12  EHD42  ITSN12  EPS152  
    ITSN22  SRL2  

    REPS2 for paralogs           About GeneDecksing



    (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 REPS2 (see all 2543)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1857137851,2
    --16877215(+) TTTTCC/TAGTGG 2 -- us2k10--------
    rs1890228451,2
    --16877380(+) CTGCAA/GGCACT 2 -- us2k10--------
    rs1817507001,2
    C--16877566(+) TAGAGA/GGCCAG 2 -- us2k10--------
    rs1856159771,2
    --16877771(+) GGCAGA/GATAAT 2 -- us2k10--------
    rs1903778901,2
    --16877788(+) AACCCA/GGGAGG 2 -- us2k10--------
    rs70633971,2
    C,F,H--16877908(+) TAGAGT/GACTAG 2 -- us2k14Minor allele frequency- G:0.07NS 790
    rs1389424761,2
    C--16878021(+) GGTTTC/TGCATT 2 -- us2k10--------
    rs590437991,2
    C,F--16878056(+) GTTTTG/CTACTA 2 -- us2k11Minor allele frequency- C:0.50WA 2
    rs1814450941,2
    --16878141(+) ATTTTC/TAGGCC 2 -- us2k10--------
    rs1463901991,2
    --16878177(+) AGATAG/TTCAAC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for REPS2 (16964814 - 17171403 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for REPS2: --
    Human Gene Mutation Database (HGMD): REPS2
    Locus Specific Mutation Databases (LSDB): REPS2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing REPS2
    DNA2.0 Custom Variant and Variant Library Synthesis for REPS2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300317    OMIM disorders: --

    5 diseases for REPS2:    
    About MalaCards
    prostate cancer    intellectual disability    prostatitis    retinitis
    breast cancer


    REPS2 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for REPS2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    prostate cancer 36 9 15184881 (4), 15455380 (3), 15707977 (1)


    Export disorders for REPS2 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 REPS2 gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with REPS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Solution structure of the Eps15 homology domain of a human POB1 (partner of RalBP1). (PubMed id 9928989)1, 2, 3 Koshiba S.... Yokoyama S. (FEBS Lett. 1999)
    2. Identification and characterization of a novel protein interacting with Ral-binding protein 1, a putative effector protein of Ral. (PubMed id 9422736)1, 2, 3 Ikeda M.... Kikuchi A. (J. Biol. Chem. 1998)
    3. REPS2/POB1 is downregulated during human prostate cancer progression and inhibits growth factor signalling in prostate cancer cells. (PubMed id 12771942)1, 2 Oosterhoff J.K....Blok L.J. (Oncogene 2003)
    4. Epsin binds to the EH domain of POB1 and regulates receptor-mediated endocytosis. (PubMed id 10557078)1, 2 Morinaka K....Kikuchi A. (Oncogene 1999)
    5. Interaction of POB1, a downstream molecule of small G protein Ral, with PAG2, a paxillin-binding protein, is involved in cell migration. (PubMed id 12149250)1, 9 Oshiro T....Kikuchi A. (J. Biol. Chem. 2002)
    6. POB1 over-expression inhibits RLIP76-mediated transport of glutathione-conjugates, drugs and promotes apoptosis. (PubMed id 15707977)1, 9 Yadav S....Awasthi S. (Biochem. Biophys. Res. Commun. 2005)
    7. Identification of REPS2 as a putative modulator of NF-kappaB activity in prostate cancer cells. (PubMed id 15184881)1, 9 Penninkhof F....Blok L.J. (Oncogene 2004)
    8. EGF signalling in prostate cancer cell lines is inhibited by a high expression level of the endocytosis protein REPS2. (PubMed id 15455380)1, 9 Oosterhoff J.K....Blok L.J. (Int. J. Cancer 2005)
    9. Small G protein Ral and its downstream molecules regulate endocytosis of EGF and insulin receptors. (PubMed id 10393179)1, 9 Nakashima S....Kikuchi A. (EMBO J. 1999)
    10. Diagnostic exome sequencing in persons with severe intellectual disability. (PubMed id 23033978)2 de Ligt J.... Vissers L.E. (N. Engl. J. Med. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 9185 HGNC: 9963 AceView: REPS2 Ensembl:ENSG00000169891 euGenes: HUgn9185
    ECgene: REPS2 H-InvDB: REPS2

    (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 REPS2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for REPS2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for REPS2 gene:
    Search GeneIP for patents involving REPS2

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



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