REPS2

Protein-coding gene in the species Homo sapiens

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]
Band	Xp22.2	End	17,153,272 bp^[1]

Gene location (Mouse)

Chr.	X chromosome (mouse)^[2]

Band	X\|X F4	Start	161,194,950 bp^[2]
Band	X\|X F4	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 colliculus

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

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

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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000169891 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000040855 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b Ikeda M, Ishida O, Hinoi T, Kishida S, Kikuchi A (February 1998). "Identification and characterization of a novel protein interacting with Ral-binding protein 1, a putative effector protein of Ral". J Biol Chem. 273 (2): 814–21. doi:10.1074/jbc.273.2.814. PMID 9422736.
^ Koshiba S, Kigawa T, Iwahara J, Kikuchi A, Yokoyama S (February 1999). "Solution structure of the Eps15 homology domain of a human POB1 (partner of RalBP1)". FEBS Lett. 442 (2–3): 138–42. doi:10.1016/S0014-5793(98)01644-5. PMID 9928989.
^ ^a ^b "Entrez Gene: REPS2 RALBP1 associated Eps domain containing 2".
^ Morinaka K, Koyama S, Nakashima S, Hinoi T, Okawa K, Iwamatsu A, Kikuchi A (October 1999). "Epsin binds to the EH domain of POB1 and regulates receptor-mediated endocytosis". Oncogene. 18 (43): 5915–22. doi:10.1038/sj.onc.1202974. PMID 10557078. S2CID 23390428.
^ Nakashima S, Morinaka K, Koyama S, Ikeda M, Kishida M, Okawa K, Iwamatsu A, Kishida S, Kikuchi A (July 1999). "Small G protein Ral and its downstream molecules regulate endocytosis of EGF and insulin receptors". EMBO J. 18 (13): 3629–42. doi:10.1093/emboj/18.13.3629. PMC 1171441. PMID 10393179.

Nakashima S, Morinaka K, Koyama S, Ikeda M, Kishida M, Okawa K, Iwamatsu A, Kishida S, Kikuchi A (1999). "Small G protein Ral and its downstream molecules regulate endocytosis of EGF and insulin receptors". EMBO J. 18 (13): 3629–42. doi:10.1093/emboj/18.13.3629. PMC 1171441. PMID 10393179.
Morinaka K, Koyama S, Nakashima S, Hinoi T, Okawa K, Iwamatsu A, Kikuchi A (1999). "Epsin binds to the EH domain of POB1 and regulates receptor-mediated endocytosis". Oncogene. 18 (43): 5915–22. doi:10.1038/sj.onc.1202974. PMID 10557078. S2CID 23390428.
Matsuzaki T, Hanai S, Kishi H, Liu Z, Bao Y, Kikuchi A, Tsuchida K, Sugino H (2002). "Regulation of endocytosis of activin type II receptors by a novel PDZ protein through Ral/Ral-binding protein 1-dependent pathway". J. Biol. Chem. 277 (21): 19008–18. doi:10.1074/jbc.M112472200. PMID 11882656.
Oshiro T, Koyama S, Sugiyama S, Kondo A, Onodera Y, Asahara T, Sabe H, Kikuchi A (2002). "Interaction of POB1, a downstream molecule of small G protein Ral, with PAG2, a paxillin-binding protein, is involved in cell migration". J. Biol. Chem. 277 (41): 38618–26. doi:10.1074/jbc.M203453200. PMID 12149250.
Oosterhoff JK, Penninkhof F, Brinkmann AO, Anton Grootegoed J, Blok LJ (2003). "REPS2/POB1 is downregulated during human prostate cancer progression and inhibits growth factor signalling in prostate cancer cells". Oncogene. 22 (19): 2920–5. doi:10.1038/sj.onc.1206397. PMID 12771942. S2CID 22877286.
Rossé C, L'Hoste S, Offner N, Picard A, Camonis J (2003). "RLIP, an effector of the Ral GTPases, is a platform for Cdk1 to phosphorylate epsin during the switch off of endocytosis in mitosis". J. Biol. Chem. 278 (33): 30597–604. doi:10.1074/jbc.M302191200. PMID 12775724.
Penninkhof F, Grootegoed JA, Blok LJ (2004). "Identification of REPS2 as a putative modulator of NF-kappaB activity in prostate cancer cells" (PDF). Oncogene. 23 (33): 5607–15. doi:10.1038/sj.onc.1207750. PMID 15184881.
Oosterhoff JK, Kühne LC, Grootegoed JA, Blok LJ (2005). "EGF signalling in prostate cancer cell lines is inhibited by a high expression level of the endocytosis protein REPS2". Int. J. Cancer. 113 (4): 561–7. doi:10.1002/ijc.20612. PMID 15455380. S2CID 6956264.
Yadav S, Zajac E, Singhal SS, Singhal J, Drake K, Awasthi YC, Awasthi S (2005). "POB1 over-expression inhibits RLIP76-mediated transport of glutathione-conjugates, drugs and promotes apoptosis". Biochem. Biophys. Res. Commun. 328 (4): 1003–9. doi:10.1016/j.bbrc.2005.01.055. PMID 15707977.