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    REPS2 RALBP1 associated Eps domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 9185, updated on 27-Nov-2024

    Summary

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    Official Symbol
    REPS2provided by HGNC
    Official Full Name
    RALBP1 associated Eps domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:9963
    See related
    Ensembl:ENSG00000169891 MIM:300317; AllianceGenome:HGNC:9963
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    POB1
    Summary
    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]
    Expression
    Broad expression in brain (RPKM 10.4), adrenal (RPKM 6.0) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See REPS2 in Genome Data Viewer
    Location:
    Xp22.2
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (16946658..17196655)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (16529181..16776698)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (16964781..17171395)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29457 Neighboring gene RNA, U4 small nuclear 6, pseudogene Neighboring gene SLC35C2 pseudogene 1 Neighboring gene CRISPRi-validated cis-regulatory element chrX.345 Neighboring gene MPRA-validated peak7360 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chrX:17044716-17044974 Neighboring gene small nucleolar RNA SNORA16B/SNORA16A family Neighboring gene chromobox 1 pseudogene 2 Neighboring gene uncharacterized LOC124905252 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 45 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:17192464-17192964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:17192965-17193465 Neighboring gene chromobox 1 pseudogene 4 Neighboring gene small nucleolar RNA U13

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Solution structure of the Eps15 homology domain of a human POB1 (partner of RalBP1). Koshiba S, et al. FEBS Lett, 1999 Jan 15. PMID 9928989
    2. REPS2 downregulation facilitates FGF-induced adhesion and migration in human lens epithelial cells through FAK/Cdc42 signaling and contributes to posterior capsule opacification. Wen C, et al. Cell Signal, 2022 Sep. PMID 35690292
    3. Expression and clinical significance of REPS2 in human esophageal squamous cell carcinoma. Zhang H, et al. Asian Pac J Cancer Prev, 2013. PMID 23803043
    4. EGF signalling in prostate cancer cell lines is inhibited by a high expression level of the endocytosis protein REPS2. Oosterhoff JK, et al. Int J Cancer, 2005 Feb 10. PMID 15455380
    5. REPS2/POB1 is downregulated during human prostate cancer progression and inhibits growth factor signalling in prostate cancer cells. Oosterhoff JK, et al. Oncogene, 2003 May 15. PMID 12771942

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. REPS2 downregulation facilitates FGF-induced adhesion and migration in human lens epithelial cells through FAK/Cdc42 signaling and contributes to posterior capsule opacification.
      Title: REPS2 downregulation facilitates FGF-induced adhesion and migration in human lens epithelial cells through FAK/Cdc42 signaling and contributes to posterior capsule opacification.
    2. HIV-1 gp41 promotes viral endocytosis in a CD4-independent manner by interacting with the host protein POB1.
      Title: Enhancement of endocytic uptake of HIV-1 virions into CD4-negative epithelial cells by HIV-1 gp41 via its interaction with POB1.
    3. miR-675-5p might play an oncogenic role in esophageal squamous cell carcinoma (ESCC) through RalBP1/RAC1/CDC42 signaling pathway by inhibiting REPS2 and might serve as a valuable prognostic biomarker and therapeutic target for ESCC patients.
      Title: miR-675-5p enhances tumorigenesis and metastasis of esophageal squamous cell carcinoma by targeting REPS2.
    4. downregulation of REPS2 may contribute to malignant progression of esophageal squamous cell carcinoma and represent a novel prognostic marker and a potential therapeutic target for esophageal squamous cell carcinoma patients.
      Title: Expression and clinical significance of REPS2 in human esophageal squamous cell carcinoma.
    5. REPS2 may be a useful tumor marker for favorable prognosis in breast cancer.
      Title: TMEM25, REPS2 and Meis 1: favourable prognostic and predictive biomarkers for breast cancer.
    6. Hsf-1 causes specific and saturable inhibition of the transport activity of Ralbp1 and that the combination of Hsf-1 and POB1 causes nearly complete inhibition through specific bindings with Ralbp1.
      Title: Hsf-1 and POB1 induce drug sensitivity and apoptosis by inhibiting Ralbp1.
    7. POB1, through its influence on the Ral signalling pathway, is involved in growth factor signalling and consequently in control of cell proliferation
      Title: REPS2/POB1 is downregulated during human prostate cancer progression and inhibits growth factor signalling in prostate cancer cells.
    8. Decreased REPS2 expression is associated with androgen-independent state of advanced prostate cancer
      Title: EGF signalling in prostate cancer cell lines is inhibited by a high expression level of the endocytosis protein REPS2.
    9. These results suggest that POB1 interacts with PAG2 through its proline-rich motif, thereby regulating cell migration.
      Title: Interaction of POB1, a downstream molecule of small G protein Ral, with PAG2, a paxillin-binding protein, is involved in cell migration.
    10. These results show for the first time that POB1 can regulate the transport function of RLIP76 and are consistent with our previous studies showing that inhibition of RLIP76 induces apoptosis in cancer cells.
      Title: POB1 over-expression inhibits RLIP76-mediated transport of glutathione-conjugates, drugs and promotes apoptosis.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env The N36(L8)C34 region (amino acids 29-155) of HIV-1 gp41 binds the C-terminal region (amino acids 462-521; C60) of POB1 protein. The C60 peptide inhibits gp41-mediated membrane fusion and HIV-1 infection PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endosomal transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in epidermal growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in protein-containing complex assembly TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ralBP1-associated Eps domain-containing protein 2
    Names
    RALBP1-interacting protein 2
    partner of Ral-binding protein 1
    partner of RalBP1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012557.2 RefSeqGene

      Range
      5002..211616
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001080975.2 → NP_001074444.1  ralBP1-associated Eps domain-containing protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001074444.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1, resulting in a protein (isoform 2) that is one aa shorter than isoform 1.
      Source sequence(s)
      AF010233, AF511533, AI221053, AL732371, AL929302
      Consensus CDS
      CCDS43919.1
      UniProtKB/Swiss-Prot
      Q8NFH8
      Related
      ENSP00000306033.7, ENST00000303843.7
      Conserved Domains (3) summary
      smart00027
      Location:274 → 369
      EH; Eps15 homology domain
      cd00052
      Location:285 → 351
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
      cl08302
      Location:75 → 121
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    2. NM_004726.3 → NP_004717.2  ralBP1-associated Eps domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_004717.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF010233, AI221053, AL732371, AL929302
      Consensus CDS
      CCDS14180.2
      UniProtKB/Swiss-Prot
      A6PWZ6, O43428, Q5JNZ8, Q8NFH8, Q8NFI5
      Related
      ENSP00000349824.3, ENST00000357277.8
      Conserved Domains (3) summary
      smart00027
      Location:275 → 370
      EH; Eps15 homology domain
      cd00052
      Location:286 → 352
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
      cl08302
      Location:75 → 121
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      16946658..17196655
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029956.3 → XP_016885445.1  ralBP1-associated Eps domain-containing protein 2 isoform X6

    2. XM_011545603.3 → XP_011543905.1  ralBP1-associated Eps domain-containing protein 2 isoform X1

      Conserved Domains (3) summary
      smart00027
      Location:275 → 370
      EH; Eps15 homology domain
      cd00052
      Location:286 → 352
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
      cl08302
      Location:75 → 121
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    3. XM_011545606.3 → XP_011543908.1  ralBP1-associated Eps domain-containing protein 2 isoform X8

      Conserved Domains (3) summary
      smart00027
      Location:275 → 370
      EH; Eps15 homology domain
      cd00052
      Location:286 → 352
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
      cl08302
      Location:75 → 121
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    4. XM_011545605.3 → XP_011543907.1  ralBP1-associated Eps domain-containing protein 2 isoform X3

      Conserved Domains (3) summary
      smart00027
      Location:275 → 370
      EH; Eps15 homology domain
      cd00052
      Location:286 → 352
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
      cl08302
      Location:75 → 121
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    5. XM_011545604.3 → XP_011543906.1  ralBP1-associated Eps domain-containing protein 2 isoform X2

      Conserved Domains (3) summary
      smart00027
      Location:274 → 369
      EH; Eps15 homology domain
      cd00052
      Location:285 → 351
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
      cl08302
      Location:75 → 121
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    6. XM_024452479.2 → XP_024308247.1  ralBP1-associated Eps domain-containing protein 2 isoform X9

      Conserved Domains (2) summary
      smart00027
      Location:274 → 369
      EH; Eps15 homology domain
      cl08302
      Location:75 → 121
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    7. XM_017029955.2 → XP_016885444.1  ralBP1-associated Eps domain-containing protein 2 isoform X4

    8. XM_011545607.3 → XP_011543909.1  ralBP1-associated Eps domain-containing protein 2 isoform X13

      Conserved Domains (3) summary
      smart00027
      Location:183 → 278
      EH; Eps15 homology domain
      cd00052
      Location:194 → 260
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
      cl08302
      Location:75 → 121
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    9. XM_005274625.4 → XP_005274682.1  ralBP1-associated Eps domain-containing protein 2 isoform X10

      Conserved Domains (3) summary
      smart00027
      Location:275 → 370
      EH; Eps15 homology domain
      cd00052
      Location:286 → 352
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
      cl08302
      Location:75 → 121
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    10. XM_047442626.1 → XP_047298582.1  ralBP1-associated Eps domain-containing protein 2 isoform X5

    11. XM_017029958.2 → XP_016885447.1  ralBP1-associated Eps domain-containing protein 2 isoform X12

    12. XM_005274626.4 → XP_005274683.1  ralBP1-associated Eps domain-containing protein 2 isoform X11

      Conserved Domains (3) summary
      smart00027
      Location:274 → 369
      EH; Eps15 homology domain
      cd00052
      Location:285 → 351
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
      cl08302
      Location:75 → 121
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    13. XM_047442627.1 → XP_047298583.1  ralBP1-associated Eps domain-containing protein 2 isoform X14

    14. XM_017029957.2 → XP_016885446.1  ralBP1-associated Eps domain-containing protein 2 isoform X7

    15. XM_047442628.1 → XP_047298584.1  ralBP1-associated Eps domain-containing protein 2 isoform X15

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      16529181..16776698
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328094.1 → XP_054184069.1  ralBP1-associated Eps domain-containing protein 2 isoform X6

    2. XM_054328089.1 → XP_054184064.1  ralBP1-associated Eps domain-containing protein 2 isoform X1

    3. XM_054328096.1 → XP_054184071.1  ralBP1-associated Eps domain-containing protein 2 isoform X8

    4. XM_054328091.1 → XP_054184066.1  ralBP1-associated Eps domain-containing protein 2 isoform X3

    5. XM_054328090.1 → XP_054184065.1  ralBP1-associated Eps domain-containing protein 2 isoform X2

    6. XM_054328097.1 → XP_054184072.1  ralBP1-associated Eps domain-containing protein 2 isoform X9

    7. XM_054328092.1 → XP_054184067.1  ralBP1-associated Eps domain-containing protein 2 isoform X4

    8. XM_054328101.1 → XP_054184076.1  ralBP1-associated Eps domain-containing protein 2 isoform X13

    9. XM_054328098.1 → XP_054184073.1  ralBP1-associated Eps domain-containing protein 2 isoform X10

    10. XM_054328093.1 → XP_054184068.1  ralBP1-associated Eps domain-containing protein 2 isoform X5

    11. XM_054328100.1 → XP_054184075.1  ralBP1-associated Eps domain-containing protein 2 isoform X12

    12. XM_054328099.1 → XP_054184074.1  ralBP1-associated Eps domain-containing protein 2 isoform X11

    13. XM_054328102.1 → XP_054184077.1  ralBP1-associated Eps domain-containing protein 2 isoform X14

    14. XM_054328095.1 → XP_054184070.1  ralBP1-associated Eps domain-containing protein 2 isoform X7

    15. XM_054328103.1 → XP_054184078.1  ralBP1-associated Eps domain-containing protein 2 isoform X15

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NFH8.2 GenPept UniProtKB/Swiss-Prot:Q8NFH8

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