Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9185
Gene name Gene Name - the full gene name approved by the HGNC.
RALBP1 associated Eps domain containing 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
REPS2
Synonyms (NCBI Gene) Gene synonyms aliases
POB1
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp22.2
Summary Summary of gene provided in NCBI Entrez 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 c
miRNA miRNA information provided by mirtarbase database.
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 factor Regulation Reference
NFKB1 Repression 15184881
RELA Repression 15184881
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 9422736, 18154663
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005829 Component Cytosol TAS
GO:0005886 Component Plasma membrane IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300317 9963 ENSG00000169891
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
19776672
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
19776672
Marfan syndrome Mammary Carcinoma, Human rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465
View all (942 more)
19776672
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 19776672, 23803043
Carcinoma Hepatocellular Associate 35995867
Esophageal Squamous Cell Carcinoma Inhibit 23803043
Esophageal Squamous Cell Carcinoma Associate 27120794
Lymphatic Metastasis Inhibit 23803043
Nance Horan syndrome Associate 35122698
Neoplasm Metastasis Associate 27120794
Neoplasms Associate 19776672, 23803043, 25788273
Sarcoma Synovial Associate 22976541