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REPS2

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Protein-coding gene in the species Homo sapiens

REPS2
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

1IQ3

Identifiers
AliasesREPS2, POB1, RALBP1 associated Eps domain containing 2
External IDsOMIM: 300317; MGI: 2663511; HomoloGene: 31255; GeneCards: REPS2; OMA:REPS2 - orthologs
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)
X chromosome (human)Genomic location for REPS2Genomic location for REPS2
BandXp22.2Start16,946,658 bp
End17,153,272 bp
Gene location (Mouse)
X chromosome (mouse)
Chr.X chromosome (mouse)
X chromosome (mouse)Genomic location for REPS2Genomic location for REPS2
BandX|X F4Start161,194,950 bp
End161,426,645 bp
RNA expression pattern
Bgee
HumanMouse (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
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
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 MbChr X: 161.19 – 161.43 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

RalBP1-associated Eps domain-containing protein 2 is a protein that in humans is encoded by the REPS2 gene.

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.

Interactions

REPS2 has been shown to interact with EPN1, EPS15 and RALBP1.

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000169891Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000040855Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. 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.
  7. ^ "Entrez Gene: REPS2 RALBP1 associated Eps domain containing 2".
  8. 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.
  9. 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.

Further reading

PDB gallery
  • 1iq3: SOLUTION STRUCTURE OF THE EPS15 HOMOLOGY DOMAIN OF A HUMAN POB1 1iq3: SOLUTION STRUCTURE OF THE EPS15 HOMOLOGY DOMAIN OF A HUMAN POB1


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