Gene Gene information from NCBI Gene database.
Entrez ID 9185
Gene name RALBP1 associated Eps domain containing 2
Gene symbol REPS2
Synonyms (NCBI Gene)
POB1
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
miRNA miRNA information provided by mirtarbase database.
404
miRTarBase ID miRNA Experiments Reference
MIRT017427 hsa-miR-335-5p Microarray 18185580
MIRT670440 hsa-miR-383-3p HITS-CLIP 23824327
MIRT670439 hsa-miR-3656 HITS-CLIP 23824327
MIRT670438 hsa-miR-4284 HITS-CLIP 23824327
MIRT670437 hsa-miR-24-3p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
NFKB1 Repression 15184881
RELA Repression 15184881
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005509 Function Calcium ion binding TAS 9928989
GO:0005515 Function Protein binding IPI 9422736, 18154663, 18647389
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300317 9963 ENSG00000169891
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF12763 EF-hand_4 275 372 Cytoskeletal-regulatory complex EF hand Family
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
MEAAAAAAAAAAAAAAAGGGCGSGPPPLLLSEGEQQCYSELFARCAGAAGGGPGSGPPEA
ARVAPGTATAAAGPVADLFRASQLPAETLHQITELCGAKRVGYFGPTQFYIALKLIAAAQ
SGLPVRIESIKCELPLPRFMMSKNDGEIRFGNPAELHGTKVQIPYLTTEKNSFKRMDDED
KQQETQSPTMSPLASPPSSPPHYQRVPLSHGYSKLRSSAEQMHPAPYEARQPLVQPEGSS
SGGPGTKPLRHQASLIRSFSVERELQDNSSYPDEPWRITEEQREYYVNQFRSLQPDPSSF
ISGSVAKNFFTKSKLSIPELSYIWELSDADCDGALTLPEFCAAFHLIVARKNGYPLPEGL
PPTLQPEYLQAA
FPKPKWDCQLFDSYSESLPANQQPRDLNRMEKTSVKDMADLPVPNQDV
TSDDKQALKSTINEALPKDVSEDPATPKDSNSLKARPRSRSYSSTSIEEAMKRGEDPPTP
PPRPQKTHSRASSLDLNKVFQPSVPATKSGLLPPPPALPPRPCPSQSEQVSEAELLPQLS
RAPSQAAESSPAKKDVLYSQPPSKPIRRKFRPENQATENQEPSTAASGPASAATMKPHPT
VQKQSSKQKKAIQTAIRKNKEANAVLARLNSELQQQLKEVHQERIALENQLEQLRPVTVL
Sequence length 660
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLEAR CELL RENAL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy, 1 Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 19776672
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma CTD_human_DG 19776672
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 19776672, 23803043 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 35995867 Associate
★☆☆☆☆
Found in Text Mining only
Esophageal Squamous Cell Carcinoma Esophageal squamous cell carcinoma Pubtator 23803043 Inhibit
★☆☆☆☆
Found in Text Mining only
Esophageal Squamous Cell Carcinoma Esophageal squamous cell carcinoma Pubtator 27120794 Associate
★☆☆☆☆
Found in Text Mining only
Lymphatic Metastasis Lymphatic metastasis Pubtator 23803043 Inhibit
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 19776672, 23803043
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer CTD_human_DG 19776672
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer BEFREE 12771942, 15455380
★☆☆☆☆
Found in Text Mining only