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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 diff... See more...
Aliases for REPS2 Gene
Aliases for REPS2 Gene
External Ids for REPS2 Gene
- HGNC: 9963
- Entrez Gene: 9185
- Ensembl: ENSG00000169891
- OMIM: 300317
- UniProtKB: Q8NFH8
Previous GeneCards Identifiers for REPS2 Gene
- GC0XM016700
- GC0XP015813
- GC0XP016166
- GC0XP016326
- GC0XP016724
- GC0XP016874
- GC0XP014724
Summaries 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 EGF/EGFR Signaling Pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is REPS1.
UniProtKB/Swiss-Prot Summary for REPS2 Gene
-
Involved in growth factor signaling through its influence on the Ral signaling pathway.
Additional gene information for REPS2 Gene
- HGNC(9963)
- Entrez Gene(9185)
- Ensembl(ENSG00000169891)
- OMIM(300317)
- UniProtKB(Q8NFH8)
- Open Targets Platform(ENSG00000169891)
- Search for REPS2 at DataMed
- Search for REPS2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for REPS2 Gene
Genomics for REPS2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for REPS2 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH0XJ016946 | Promoter/Enhancer | 1.7 | EPDnew Ensembl ENCODE CraniofacialAtlas | 600.7 | +0.7 | 743 | 2.8 | FOXA1 PKNOX1 POLR2A PATZ1 ZNF600 NRF1 SP2 EGR1 EZH2 ZBTB48 | REPS2 piR-56759-598 NHS | |
| GH0XJ016970 | Enhancer | 0.4 | Ensembl | 13.7 | +24.5 | 24543 | 0.8 | RELA RUNX3 JUNB BHLHE40 | piR-32677-503 piR-39488-342 piR-56022-588 piR-43099-623 piR-50308-663 piR-43583-573 piR-55281-645 REPS2 lnc-RBBP7-1 NHS | |
| GH0XJ017020 | Enhancer | 0.6 | Ensembl ENCODE | 9.3 | +75.1 | 75079 | 2.9 | TCF7L2 OSR2 NFIC JUNB PRDM6 | REPS2 RBBP7 hsa-miR-5096-187 ENSG00000201467 NHS | |
| GH0XJ017037 | Enhancer | 0.7 | Ensembl ENCODE | 7.2 | +91.3 | 91343 | 4.8 | CEBPB ZNF585B IKZF1 EGR2 SPI1 POLR2A RAD51 | TXLNG RBBP7 REPS2 ENSG00000201467 hsa-miR-5096-187 NHS | |
| GH0XJ016910 | Enhancer | 0.5 | Ensembl | 9.5 | -34.3 | -34257 | 4.8 | JUND POLR2A ATF4 ZNF146 FOS SMARCA4 MAX | ENSG00000199410 REPS2 RBBP7 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around REPS2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for REPS2
- Top Transcription factor binding sites by QIAGEN in the REPS2 gene promoter:
-
- AML1a
- AREB6
- Egr-1
- FOXO1
- FOXO1a
- Nkx3-1
- Nkx3-1 v1
- Nkx3-1 v2
- Nkx3-1 v3
- Nkx3-1 v4
Genomic Locations for REPS2 Gene
Genomic Locations for REPS2 Gene
- chrX:16,946,658-17,220,724
- (GRCh38/hg38)
- Size:
- 274,067 bases
- Orientation:
- Plus strand
- chrX:16,964,814-17,171,403
- (GRCh37/hg19)
- Size:
- 206,590 bases
- Orientation:
- Plus strand
Genomic View for REPS2 Gene
Genes around REPS2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xp22.2 by HGNC
- Xp22.2 by Entrez Gene
- Xp22.2 by Ensembl
REPS2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression 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
Other Protein References for REPS2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ REPS2 Antibody
-
Custom Antibody ServicesOriGene Antibodies for REPS2
- Novus Biologicals Antibodies for REPS2
-
Abcam antibodies for REPS2
- Invitrogen Antibodies for REPS2 (AFLGC-REPS2)
-
Biorbyt antibodies for REPS2
-
Boster Bio Antibodies for REPS2
-
Santa Cruz Biotechnology (SCBT) Antibodies for REPS2
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for REPS2
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-
Signalway Proteins for REPS2
-
Abcam proteins for REPS2
Assay Products
- antibodies-online: Show 8 available REPS2 Elisa Kits ranked by validation data
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-
Quality Products:
-
Signalway ELISA kits for REPS2
No data available for DME Specific Peptides for REPS2 Gene
Domains & Families for REPS2 Gene
Gene Families for REPS2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for REPS2 Gene
- InterPro:
- Blocks:
-
- EPS15 homology (EH)
- ProtoNet:
Suggested Antigen Peptide Sequences for REPS2 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ60806, highly similar to RalBP1-associated Eps domain-containing protein 2 (B4DQQ8_HUMAN)
- RalBP1-interacting protein 2 (REPS2_HUMAN)
No data available for Graphical View of Domain Structure and 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005509 | calcium ion binding | TAS,IEA | -- |
| GO:0005515 | protein binding | IPI | 9422736 |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for REPS2 Gene
- MGI mutant phenotypes for REPS2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for REPS2:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for REPS2 - Select products 50% OFF >
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-
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-
Santa Cruz Biotechnology (SCBT) CRISPR for REPS2
miRNA for REPS2 Gene
- miRTarBase miRNAs that target REPS2
-
- mmu-miR-301b-3p (MIRT008082)
- mmu-miR-19b-3p (MIRT012552)
- mmu-miR-190a-5p (MIRT013607)
- hsa-miR-335-5p (MIRT017427)
- hsa-miR-4727-5p (MIRT496370)
- hsa-miR-6780a-3p (MIRT496371)
- hsa-miR-6817-5p (MIRT496372)
- hsa-miR-4769-3p (MIRT496373)
- mmu-miR-466l-5p (MIRT591038)
- mmu-miR-3102-5p (MIRT591039)
- mmu-miR-1188-5p (MIRT591040)
- mmu-miR-466k (MIRT591041)
- mmu-miR-466i-5p (MIRT591042)
- mmu-miR-466d-5p (MIRT591043)
- hsa-miR-519d-5p (MIRT654274)
- hsa-miR-7977 (MIRT670436)
- hsa-miR-24-3p (MIRT670437)
- hsa-miR-4284 (MIRT670438)
- hsa-miR-3656 (MIRT670439)
- hsa-miR-383-3p (MIRT670440)
- hsa-miR-675-5p (MIRT731634)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for REPS2
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Clone Products
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- Sino Biological Human cDNA Clone for REPS2
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Cell Line Products
-
Horizon Cell Lines for REPS2
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
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| nucleus | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA,IBA | 21873635 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005886 | plasma membrane | IBA | 21873635 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for REPS2 Gene
Pathways & Interactions for REPS2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Clathrin-mediated endocytosis | ||
| 2 | Vesicle-mediated transport | ||
| 3 | Cytoskeleton remodeling_RalA regulation pathway |
Cytoskeleton remodeling_RalA regulation pathway
-
|
|
| 4 | Cytoskeleton remodeling_RalB regulation pathway |
Cytoskeleton remodeling_RalB regulation pathway
-
|
|
| 5 | EGF/EGFR Signaling Pathway | ||
Pathways by source for REPS2 Gene
1 BioSystems pathway for REPS2 Gene
4 Reactome pathways for REPS2 Gene
2 GeneGo (Thomson Reuters) pathways for REPS2 Gene
- Cytoskeleton remodeling_RalA regulation pathway
- Cytoskeleton remodeling_RalB regulation pathway
1 GeneTex pathway for REPS2 Gene
Interacting Proteins for REPS2 Gene
Selected Interacting proteins:
Q8NFH8-REPS2_HUMAN
ENSP00000349824
for REPS2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for REPS2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006897 | endocytosis | IBA | 21873635 |
| GO:0007173 | epidermal growth factor receptor signaling pathway | TAS | 9422736 |
| GO:0016197 | endosomal transport | IBA | 21873635 |
| GO:0061024 | membrane organization | TAS | -- |
| GO:0065003 | protein-containing complex assembly | TAS | 9422736 |
No data available for SIGNOR curated interactions for REPS2 Gene
Transcripts for REPS2 Gene
mRNA/cDNA for REPS2 Gene
- 2 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000303843 7771 nts (view in UCSC)
- ENST00000357277 7978 nts (view in UCSC)
- ENST00000469714 711 nts (view in UCSC)
- ENST00000470686 3484 nts (view in UCSC)
- ENST00000481792 438 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for REPS2 - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for REPS2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for REPS2
-
Santa Cruz Biotechnology (SCBT) CRISPR for REPS2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for REPS2
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Clone Products
- Applied Biological Materials (abm): Clones for REPS2 - Select products 50% OFF >
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- Sino Biological Human cDNA Clone for REPS2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for REPS2
Relevant External Links for REPS2 Gene
- GeneLoc Exon Structure for
- REPS2
Expression for REPS2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
-
Eye (Sensory Organs)
- Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
-
Epithelial Cells
- Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
- Bone (Muscoskeletal System)
- Cartilage (Muscoskeletal System)
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, MaxQB, and MOPED for REPS2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for REPS2
SOURCE GeneReport for Unigene cluster for REPS2 Gene:
Hs.186810mRNA 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.
Evidence on tissue expression from TISSUES for REPS2 Gene
- Nervous system(4.7)
- Liver(4.3)
Primer Products
-
OriGene qPCR primer pairs for REPS2
-
OriGene qPCR primer pairs and template standards for REPS2
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | REPS2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | REPS2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | REPS2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Reps2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Reps2 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | REPS2 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | REPS2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | REPS2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | REPS2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | reps2 30 |
|
||
| Str.9777 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.15149 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC101882936 30 |
|
||
| REPS2 31 |
|
OneToOne | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Reps 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for REPS2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for REPS2: view image
Paralogs for REPS2 Gene
Variants for REPS2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for REPS2 Gene
| SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 718261 | Benign: not provided | 17,138,904(+) | T/C | SYNONYMOUS_VARIANT | |
| 719558 | Likely Benign: not provided | 16,947,040(+) | C/T | MISSENSE_VARIANT | |
| 726618 | Likely Benign: not provided | 16,947,078(+) | G/A | MISSENSE_VARIANT | |
| 742986 | Likely Benign: not provided | 17,147,466(+) | G/A | SYNONYMOUS_VARIANT | |
| 783904 | Likely Benign: not provided | 16,946,900(+) | A/G | SYNONYMOUS_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3558653 | CNV | deletion | 23714750 |
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)
Additional Variant Information for REPS2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for REPS2 Gene
Disorders for REPS2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| nance-horan syndrome |
|
|
| prostate cancer |
|
Search REPS2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for REPS2
No data available for UniProtKB/Swiss-Prot and Genatlas for REPS2 Gene
Publications for REPS2 Gene
- 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
- 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
- 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 23
- 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 23
- Identification of REPS2 as a putative modulator of NF-kappaB activity in prostate cancer cells. (PMID: 15184881) Penninkhof F … Blok LJ (Oncogene 2004) 3 23
ExternalLinks
Products for REPS2 Gene
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Sources for REPS2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
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