REPS2 (RALBP1 associated Eps domain containing 2)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 9185 |
| Gene name | RALBP1 associated Eps domain containing 2 |
| Gene symbol | REPS2 |
| Synonyms (NCBI Gene) |
POB1
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| Chromosome | X |
| Chromosome location | Xp22.2 |
| Summary | 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 c |
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miRNA
miRNA information provided by mirtarbase database.
404
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Transcription factors
Transcription factors information provided by TRRUST V2 database.
2
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q8NFH8 | ||||||||||
| Protein name | RalBP1-associated Eps domain-containing protein 2 (Partner of RalBP1) (RalBP1-interacting protein 2) | ||||||||||
| Protein function | Involved in ligand-dependent receptor mediated endocytosis of the EGF and insulin receptors as part of the Ral signaling pathway (PubMed:10393179, PubMed:12771942, PubMed:9422736). By controlling growth factor receptors endocytosis may regulate | ||||||||||
| PDB | 1IQ3 | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed at high levels in the cerebrum, cerebellum, lung, kidney, and testis. Weakly expressed in the kidney. Isoform 2 is down-regulated during progression of prostate cancer. {ECO:0000269|PubMed:12771942}. | ||||||||||
| Sequence |
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| Sequence length | 660 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
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