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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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