REPS2

RalBP1-associated Eps domain-containing protein 2 is a protein that in humans is encoded by the REPS2 gene.^[5][6][7]

REPS2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1IQ3
Identifiers
Aliases	REPS2, POB1, RALBP1 associated Eps domain containing 2
External IDs	OMIM: 300317; MGI: 2663511; HomoloGene: 31255; GeneCards: REPS2; OMA:REPS2 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xp22.2 Start 16,946,658 bp[1] End 17,153,272 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X F4 Start 161,194,950 bp[2] End 161,426,645 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in middle temporal gyrus corpus epididymis lateral nuclear group of thalamus Brodmann area 23 postcentral gyrus sural nerve superior frontal gyrus blood Pons corpus callosum Top expressed in medial dorsal nucleus medial geniculate nucleus lateral geniculate nucleus subiculum olfactory tubercle primary motor cortex mammillary body anterior amygdaloid area inferior colliculi lateral septal nucleus More reference expression data BioGPS n/a
Gene ontology Molecular function calcium ion binding protein binding metal ion binding Cellular component cytoplasm cytosol Biological process epidermal growth factor receptor signaling pathway membrane organization protein-containing complex assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9185 194590 Ensembl ENSG00000169891 ENSMUSG00000040855 UniProt Q8NFH8 Q80XA6 RefSeq (mRNA) NM_001080975 NM_004726 NM_001290633 NM_178256 NM_001359102 NM_001359103 NM_001359104 RefSeq (protein) NP_001074444 NP_004717 NP_001277562 NP_839987 NP_001346031 NP_001346032 NP_001346033 NP_001390994 NP_001390995 NP_001390996 NP_001390997 NP_001390998 Location (UCSC) Chr X: 16.95 – 17.15 Mb Chr X: 161.19 – 161.43 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Function

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.^[7]

Interactions

REPS2 has been shown to interact with EPN1,^[8] EPS15^[9] and RALBP1.^[5]