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Aliases for REPS2 Gene

Aliases for REPS2 Gene

  • RALBP1 Associated Eps Domain Containing 2 2 3
  • POB1 3 4 6
  • Partner Of RalBP1 3 4
  • RalBP1-Associated Eps Domain-Containing Protein 2 3
  • Partner Of Ral-Binding Protein 1 3
  • RALBP1-Interacting Protein 2 3
  • RalBP1-Interacting Protein 2 4

External Ids for REPS2 Gene

Previous GeneCards Identifiers for REPS2 Gene

  • GC0XM016700
  • GC0XP015813
  • GC0XP016166
  • GC0XP016326
  • GC0XP016724
  • GC0XP014724

Summaries for REPS2 Gene

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. Among its related pathways are Cytoskeleton remodeling_RalA regulation pathway and EGFR1 Signaling Pathway. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is EHD1.

UniProtKB/Swiss-Prot for REPS2 Gene

  • Involved in growth factor signaling through its influence on the Ral signaling pathway

Gene Wiki entry for REPS2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for REPS2 Gene

Genomics for REPS2 Gene

Regulatory Elements for REPS2 Gene

Genomic Location for REPS2 Gene

Start:
16,946,691 bp from pter
End:
17,220,732 bp from pter
Size:
274,042 bases
Orientation:
Plus strand

Genomic View for REPS2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for REPS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for REPS2 Gene

Proteins for REPS2 Gene

  • Protein details for REPS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFH8-REPS2_HUMAN
    Recommended name:
    RalBP1-associated Eps domain-containing protein 2
    Protein Accession:
    Q8NFH8
    Secondary Accessions:
    • A6PWZ6
    • O43428
    • Q5JNZ8
    • Q8NFI5

    Protein attributes for REPS2 Gene

    Size:
    660 amino acids
    Molecular mass:
    71534 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for REPS2 Gene

    Alternative splice isoforms for REPS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for REPS2 Gene

Proteomics data for REPS2 Gene at MOPED

Post-translational modifications for REPS2 Gene

  • EGF stimulates phosphorylation on Tyr-residues and induces complex formation with EGF receptor through an adapter protein such as GRB2
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for REPS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for REPS2 Gene

Domains for REPS2 Gene

Gene Families for REPS2 Gene

HGNC:
  • EFHAND :EF-hand domain containing

Protein Domains for REPS2 Gene

Suggested Antigen Peptide Sequences for REPS2 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NFH8

UniProtKB/Swiss-Prot:

REPS2_HUMAN :
  • Q8NFH8
Domain:
  • Contains 1 EF-hand domain.
  • Contains 2 EH domains.
genes like me logo Genes that share domains with REPS2: view

Function for REPS2 Gene

Molecular function for REPS2 Gene

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

Gene Ontology (GO) - Molecular Function for REPS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 18154663
genes like me logo Genes that share ontologies with REPS2: view

Phenotypes for REPS2 Gene

GenomeRNAi human phenotypes for REPS2:
genes like me logo Genes that share phenotypes with REPS2: view

Animal Model Products

miRNA for REPS2 Gene

miRTarBase miRNAs that target REPS2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for REPS2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for REPS2 Gene

Localization for REPS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for REPS2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for REPS2 Gene COMPARTMENTS Subcellular localization image for REPS2 gene
Compartment Confidence
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for REPS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with REPS2: view

Pathways for REPS2 Gene

genes like me logo Genes that share pathways with REPS2: view

Pathways by source for REPS2 Gene

1 BioSystems pathway for REPS2 Gene

Gene Ontology (GO) - Biological Process for REPS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006461 protein complex assembly TAS 9422736
GO:0007173 epidermal growth factor receptor signaling pathway TAS 9422736
genes like me logo Genes that share ontologies with REPS2: view

Transcripts for REPS2 Gene

Unigene Clusters for REPS2 Gene

RALBP1 associated Eps domain containing 2:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for REPS2

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for REPS2 Gene

No ASD Table

Relevant External Links for REPS2 Gene

GeneLoc Exon Structure for
REPS2
ECgene alternative splicing isoforms for
REPS2

Expression for REPS2 Gene

mRNA expression in normal human tissues for REPS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for REPS2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.4), Pancreas (10.8), Liver (9.3), and Frontal cortex (6.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for REPS2 Gene

SOURCE GeneReport for Unigene cluster for REPS2 Gene Hs.186810

mRNA Expression by UniProt/SwissProt for REPS2 Gene

Q8NFH8-REPS2_HUMAN
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
genes like me logo Genes that share expressions with REPS2: view

Expression partners for REPS2 Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for REPS2 Gene

Orthologs for REPS2 Gene

This gene was present in the common ancestor of animals.

Orthologs for REPS2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia REPS2 35
  • 88.94 (n)
  • 90.61 (a)
REPS2 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia REPS2 35
  • 89.89 (n)
  • 91.63 (a)
REPS2 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Reps2 35
  • 88.29 (n)
  • 89.24 (a)
Reps2 16
Reps2 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia REPS2 35
  • 99.68 (n)
  • 100 (a)
REPS2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Reps2 35
  • 86.62 (n)
  • 86.65 (a)
oppossum
(Monodelphis domestica)
Mammalia REPS2 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia REPS2 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves REPS2 35
  • 69.71 (n)
  • 68.68 (a)
REPS2 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia REPS2 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia reps2 35
  • 62.39 (n)
  • 57.4 (a)
Str.9777 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.15149 35
zebrafish
(Danio rerio)
Actinopterygii LOC101882936 35
  • 57.05 (n)
  • 53.24 (a)
REPS2 36
  • 46 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Reps 36
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 32 (a)
OneToMany
Species with no ortholog for REPS2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for REPS2 Gene

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

Paralogs for REPS2 Gene

Paralogs for REPS2 Gene

genes like me logo Genes that share paralogs with REPS2: view

Variants for REPS2 Gene

Sequence variations from dbSNP and Humsavar for REPS2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs11864 -- 17,153,177(+) TGAAA(A/G)GTCTG utr-variant-3-prime, intron-variant
rs713355 -- 17,062,369(-) ATCAG(C/T)TTTTC intron-variant
rs714070 -- 17,103,979(-) ATTGA(A/G)GAAAC intron-variant
rs751177 -- 17,129,556(-) ACCAC(C/T)GCATG intron-variant
rs751178 -- 17,129,543(-) GTTAT(A/G)TCAGG intron-variant

Relevant External Links for REPS2 Gene

HapMap Linkage Disequilibrium report
REPS2
Human Gene Mutation Database (HGMD)
REPS2
Locus Specific Mutation Databases (LSDB)
REPS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for REPS2 Gene

Disorders for REPS2 Gene

(1) Novoseek inferred disease relationships for REPS2 Gene

Disease -log(P) Hits PubMed IDs
prostate cancer 36 8
genes like me logo Genes that share disorders with REPS2: view

No data available for MalaCards , OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Genatlas and External Links for REPS2 Gene

Publications for REPS2 Gene

  1. Identification and characterization of a novel protein interacting with Ral-binding protein 1, a putative effector protein of Ral. (PMID: 9422736) Ikeda M. … Kikuchi A. (J. Biol. Chem. 1998) 2 3 4
  2. Solution structure of the Eps15 homology domain of a human POB1 (partner of RalBP1). (PMID: 9928989) Koshiba S. … Yokoyama S. (FEBS Lett. 1999) 2 3 4
  3. Epsin binds to the EH domain of POB1 and regulates receptor-mediated endocytosis. (PMID: 10557078) Morinaka K. … Kikuchi A. (Oncogene 1999) 3 4
  4. Small G protein Ral and its downstream molecules regulate endocytosis of EGF and insulin receptors. (PMID: 10393179) Nakashima S. … Kikuchi A. (EMBO J. 1999) 3 23
  5. Interaction of POB1, a downstream molecule of small G protein Ral, with PAG2, a paxillin-binding protein, is involved in cell migration. (PMID: 12149250) Oshiro T. … Kikuchi A. (J. Biol. Chem. 2002) 3 23

Products for REPS2 Gene

Sources for REPS2 Gene

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