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Aliases for REPS2 Gene

Aliases for REPS2 Gene

  • RALBP1 Associated Eps Domain Containing 2 2 3 5
  • Partner Of RalBP1 3 4
  • POB1 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. Diseases associated with REPS2 include Nance-Horan Syndrome and Prostate Cancer. Among its related pathways are Clathrin-mediated endocytosis and Vesicle-mediated transport. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is REPS1.

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

Additional gene information for REPS2 Gene

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

Genomics for REPS2 Gene

Regulatory Elements for REPS2 Gene

Enhancers for REPS2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH016892 1.1 Ensembl ENCODE 8.6 -53.7 -53710 0.5 BMI1 ZNF2 RAD21 RFX5 ZNF143 RCOR1 IKZF2 ELK4 SMARCA5 ZNF654 REPS2 LOC100129483 RNU4-6P
GH0XH017024 0.6 Ensembl ENCODE 7.2 +78.4 78437 0.8 EED REPS2 GC0XM017045 ENSG00000201467 GC0XM016988
GH0XH017037 0.5 ENCODE 7.2 +91.9 91924 1.9 ZNF585B POLR2A IKZF1 SPI1 EGR2 TXLNG RBBP7 REPS2 GC0XM017045 ENSG00000201467 GC0XM016988
GH0XH016946 0.8 ENCODE 0.7 +0.0 37 1.3 PKNOX1 E2F1 ZFHX2 POLR2A ZBTB48 EGR1 PATZ1 ZNF600 EZH2 MAZ REPS2 PIR59305
GH0XH016953 0.8 Ensembl ENCODE 0.4 +7.1 7117 1.4 JUND FOXA2 JUN USF2 FOS PRDM10 ENSG00000201467 REPS2 PIR59305
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around REPS2 on UCSC Golden Path with GeneCards custom track

Promoters for REPS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000244882 210 1400 CTCF PKNOX1 SP3 NRF1 NFYC SP2 MNT ZBTB8A E2F1 ZFHX2

Genomic Locations for REPS2 Gene

Genomic Locations for REPS2 Gene
274,042 bases
Plus strand

Genomic View for REPS2 Gene

Genes around REPS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
REPS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Recommended name:
    RalBP1-associated Eps domain-containing protein 2
    Protein Accession:
    Secondary Accessions:
    • A6PWZ6
    • O43428
    • Q5JNZ8
    • Q8NFI5

    Protein attributes for REPS2 Gene

    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


neXtProt entry for REPS2 Gene

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

No data available for DME Specific Peptides for REPS2 Gene

Domains & Families for REPS2 Gene

Gene Families for REPS2 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for REPS2 Gene

Suggested Antigen Peptide Sequences for REPS2 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for REPS2 Gene

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.

Phenotypes From GWAS Catalog for REPS2 Gene

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 9422736
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with REPS2: view
genes like me logo Genes that share phenotypes with REPS2: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for REPS2 Gene

Localization for REPS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for REPS2 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for REPS2 gene
Compartment Confidence
cytosol 5
nucleus 2

Gene Ontology (GO) - Cellular Components for REPS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with REPS2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for REPS2 Gene

Pathways & Interactions for REPS2 Gene

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

Pathways by source 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
GO:0061024 membrane organization TAS --
genes like me logo Genes that share ontologies with REPS2: view

No data available for SIGNOR curated interactions for REPS2 Gene

Drugs & Compounds for REPS2 Gene

No Compound Related Data Available

Transcripts for REPS2 Gene

Unigene Clusters for REPS2 Gene

RALBP1 associated Eps domain containing 2:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for REPS2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for REPS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for REPS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED 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 in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for REPS2 Gene

Protein tissue co-expression partners for REPS2 Gene

NURSA nuclear receptor signaling pathways regulating expression of REPS2 Gene:


SOURCE GeneReport for Unigene cluster for REPS2 Gene:


mRNA Expression by UniProt/SwissProt for REPS2 Gene:

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.

Evidence on tissue expression from TISSUES for REPS2 Gene

  • Nervous system(4.6)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with REPS2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia REPS2 33 34
  • 99.68 (n)
(Canis familiaris)
Mammalia REPS2 33 34
  • 89.89 (n)
(Bos Taurus)
Mammalia REPS2 33 34
  • 88.94 (n)
(Mus musculus)
Mammalia Reps2 33 16 34
  • 88.29 (n)
(Rattus norvegicus)
Mammalia Reps2 33
  • 86.62 (n)
(Monodelphis domestica)
Mammalia REPS2 34
  • 76 (a)
(Ornithorhynchus anatinus)
Mammalia REPS2 34
  • 69 (a)
(Gallus gallus)
Aves REPS2 33 34
  • 69.71 (n)
(Anolis carolinensis)
Reptilia REPS2 34
  • 60 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia reps2 33
  • 62.39 (n)
Str.9777 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15149 33
(Danio rerio)
Actinopterygii LOC101882936 33
  • 57.05 (n)
REPS2 34
  • 46 (a)
fruit fly
(Drosophila melanogaster)
Insecta Reps 34
  • 20 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 32 (a)
Species where no ortholog for REPS2 was found in the sources mined by GeneCards:
  • 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

Gene Tree for REPS2 (if available)
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
rs1000012663 -- 17,095,861(+) TGAGA(A/G)CTGGG intron-variant
rs1000053222 -- 17,129,482(+) GATTC(A/G)CTCCT intron-variant
rs1000058631 -- 16,963,472(+) AATGT(A/G)TAGCA intron-variant
rs1000063816 -- 17,140,586(+) CAGTT(A/C)ATCTT intron-variant
rs1000070511 -- 16,997,727(+) GTTGT(A/G)CAAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for REPS2 Gene

Variant ID Type Subtype PubMed ID
esv3558653 CNV deletion 23714750

Variation tolerance for REPS2 Gene

Residual Variation Intolerance Score: 14.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.09; 22.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for REPS2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for REPS2 Gene

Disorders for REPS2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for REPS2 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
nance-horan syndrome
  • cataract dental syndrome
prostate cancer
  • prostate cancer, hereditary, 5
- elite association - COSMIC cancer census association via MalaCards
Search REPS2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for REPS2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with REPS2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for REPS2 Gene

Publications for REPS2 Gene

  1. Solution structure of the Eps15 homology domain of a human POB1 (partner of RalBP1). (PMID: 9928989) Koshiba S … Yokoyama S (FEBS letters 1999) 2 3 4 60
  2. 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 (The Journal of biological chemistry 1998) 2 3 4 60
  3. EGF signalling in prostate cancer cell lines is inhibited by a high expression level of the endocytosis protein REPS2. (PMID: 15455380) Oosterhoff JK … Blok LJ (International journal of cancer 2005) 3 22 60
  4. POB1 over-expression inhibits RLIP76-mediated transport of glutathione-conjugates, drugs and promotes apoptosis. (PMID: 15707977) Yadav S … Awasthi S (Biochemical and biophysical research communications 2005) 3 22 60
  5. Identification of REPS2 as a putative modulator of NF-kappaB activity in prostate cancer cells. (PMID: 15184881) Penninkhof F … Blok LJ (Oncogene 2004) 3 22 60

Products for REPS2 Gene

Sources for REPS2 Gene

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