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    Reps2 RALBP1 associated Eps domain containing protein 2 [ Mus musculus (house mouse) ]

    Gene ID: 194590, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Reps2provided by MGI
    Official Full Name
    RALBP1 associated Eps domain containing protein 2provided by MGI
    Primary source
    MGI:MGI:2663511
    See related
    Ensembl:ENSMUSG00000040855 AllianceGenome:MGI:2663511
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    POB1
    Summary
    Predicted to enable calcium ion binding activity. Predicted to be involved in endocytosis and endosomal transport. Predicted to be active in cytoplasm and plasma membrane. Orthologous to human REPS2 (RALBP1 associated Eps domain containing 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in cortex adult (RPKM 8.4), frontal lobe adult (RPKM 7.3) and 21 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    X F4; X 74.67 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (161194949..161426701, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (162411952..162643705, complement)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene NHS actin remodeling regulator Neighboring gene STARR-seq mESC enhancer starr_48203 Neighboring gene predicted gene, 23794 Neighboring gene thyroid hormone receptor associated protein 3 pseudogene Neighboring gene STARR-seq mESC enhancer starr_48204 Neighboring gene STARR-seq mESC enhancer starr_48205 Neighboring gene ubiquitin/ribosomal protein S27a fusion protein pseudogene Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene Neighboring gene STARR-seq mESC enhancer starr_48207 Neighboring gene STARR-seq mESC enhancer starr_48208 Neighboring gene SEC22 vesicle trafficking protein homolog B pseudogene Neighboring gene predicted gene 15201

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Reps2: a cellular signaling and molecular trafficking nexus. Badway JA, et al. Int J Biochem Cell Biol, 2011 Dec. PMID 21907823
    2. Organization and annotation of the Xcat critical region: elimination of seven positional candidate genes. Huang KM, et al. Genomics, 2004 May. PMID 15081118
    3. Interaction of POB1, a downstream molecule of small G protein Ral, with PAG2, a paxillin-binding protein, is involved in cell migration. Oshiro T, et al. J Biol Chem, 2002 Oct 11. PMID 12149250
    4. The central proline rich region of POB1/REPS2 plays a regulatory role in epidermal growth factor receptor endocytosis by binding to 14-3-3 and SH3 domain-containing proteins. Tomassi L, et al. BMC Biochem, 2008 Jul 22. PMID 18647389, Free PMC Article
    5. Head bobber: an insertional mutation causes inner ear defects, hyperactive circling, and deafness. Somma G, et al. J Assoc Res Otolaryngol, 2012 Jun. PMID 22383091, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 

    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 MGI

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    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
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    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
    partner of RalBP1
    ralBP1-interacting protein 2

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001290633.2 → NP_001277562.1  ralBP1-associated Eps domain-containing protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001277562.1

      Status: VALIDATED

      Source sequence(s)
      AL672039, AL672123, AL672125
      Consensus CDS
      CCDS72462.1
      UniProtKB/Swiss-Prot
      A2AFI8, Q80XA6
      Related
      ENSMUSP00000107953.2, ENSMUST00000112334.8
      Conserved Domains (2) summary
      smart00027
      Location:261 → 356
      EH; Eps15 homology domain
      cl08302
      Location:62 → 108
      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_001359102.2 → NP_001346031.1  ralBP1-associated Eps domain-containing protein 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL672039, AL672123, AL672125
      Conserved Domains (2) summary
      smart00027
      Location:261 → 356
      EH; Eps15 homology domain
      cl08302
      Location:62 → 108
      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. NM_001359103.2 → NP_001346032.1  ralBP1-associated Eps domain-containing protein 2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL672039, AL672123, AL672125
      Conserved Domains (2) summary
      smart00027
      Location:262 → 357
      EH; Eps15 homology domain
      cl08302
      Location:62 → 108
      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. NM_001359104.2 → NP_001346033.1  ralBP1-associated Eps domain-containing protein 2 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL672039, AL672125
      UniProtKB/TrEMBL
      Q3UHE9, Q3UHF8
      Related
      ENSMUST00000154424.8
      Conserved Domains (1) summary
      smart00027
      Location:134 → 229
      EH; Eps15 homology domain

    5. NM_001404065.1 → NP_001390994.1  ralBP1-associated Eps domain-containing protein 2 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL672039, AL672123, AL672125

    6. NM_001404066.1 → NP_001390995.1  ralBP1-associated Eps domain-containing protein 2 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL672039, AL672123, AL672125

    7. NM_001404067.1 → NP_001390996.1  ralBP1-associated Eps domain-containing protein 2 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL672039, AL672123, AL672125

    8. NM_001404068.1 → NP_001390997.1  ralBP1-associated Eps domain-containing protein 2 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL672039, AL672123, AL672125

    9. NM_001404069.1 → NP_001390998.1  ralBP1-associated Eps domain-containing protein 2 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL672039, AL672123, AL672125

    10. NM_178256.5 → NP_839987.2  ralBP1-associated Eps domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_839987.2

      Status: VALIDATED

      Source sequence(s)
      AL672039, AL672123, AL672125
      Consensus CDS
      CCDS30508.1
      UniProtKB/TrEMBL
      B9EI38
      Related
      ENSMUSP00000098661.2, ENSMUST00000101102.2
      Conserved Domains (3) summary
      smart00027
      Location:262 → 357
      EH; Eps15 homology domain
      cd00052
      Location:273 → 339
      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:62 → 108
      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_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      161194949..161426701 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030251264.1 → XP_030107124.1  ralBP1-associated Eps domain-containing protein 2 isoform X2

      Conserved Domains (2) summary
      smart00027
      Location:261 → 356
      EH; Eps15 homology domain
      cl08302
      Location:62 → 108
      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. XM_011247794.1 → XP_011246096.1  ralBP1-associated Eps domain-containing protein 2 isoform X1

      Conserved Domains (2) summary
      smart00027
      Location:262 → 357
      EH; Eps15 homology domain
      cl08302
      Location:62 → 108
      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_006528762.4 → XP_006528825.1  ralBP1-associated Eps domain-containing protein 2 isoform X8

      See identical proteins and their annotated locations for XP_006528825.1

      UniProtKB/TrEMBL
      Q3UHE9
      Conserved Domains (1) summary
      smart00027
      Location:135 → 230
      EH; Eps15 homology domain

    4. XM_006528763.4 → XP_006528826.1  ralBP1-associated Eps domain-containing protein 2 isoform X9

      See identical proteins and their annotated locations for XP_006528826.1

      UniProtKB/TrEMBL
      Q3UHE9
      Conserved Domains (1) summary
      smart00027
      Location:134 → 229
      EH; Eps15 homology domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80XA6.2 GenPept UniProtKB/Swiss-Prot:Q80XA6

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