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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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REPS2
RALBP1 associated Eps domain containing 2
Chromosome X · Xp22.2
NCBI Gene: 9185Ensembl: ENSG00000169891.19HGNC: HGNC:9963UniProt: Q8NFH8
39PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein-macromolecule adaptor activitycytoplasmplasma membraneprostate cancerCOVID-19marginal zone B-cell lymphomainfantile epileptic-dyskinetic encephalopathy
✦AI Summary

REPS2 (RALBP1-associated Eps domain containing 2) is a multifunctional adaptor protein that regulates receptor-mediated endocytosis and cell signaling. Its primary function involves controlling ligand-dependent endocytosis of growth factor receptors, particularly EGF and insulin receptors, through the Ral signaling pathway 1. REPS2 contains Eps15 homology domains and proline-rich regions that facilitate protein-protein interactions essential for receptor internalization 2. By modulating growth factor receptor trafficking, REPS2 suppresses growth factor signaling and cell proliferation 1. Additionally, REPS2 regulates cell adhesion and migration through ASAP1 interaction and may inhibit Wnt signaling via autophagy-mediated β-catenin degradation 3. Loss of REPS2 expression occurs during cancer progression and is associated with enhanced cell proliferation and poor clinical outcomes in prostate and esophageal cancers 14. REPS2 downregulation in lens epithelial cells facilitates fibroblast growth factor-induced migration and posterior capsule opacification through FAK/Cdc42 signaling, contributing to cataract pathogenesis 5. REPS2 demonstrates clinical relevance as a favorable prognostic marker in breast cancer and may protect against neuroinflammation through ERBB pathway regulation 67.

Sources cited
1
REPS2 is involved in EGF receptor endocytosis via Ral signaling and suppresses growth factor signaling and proliferation in prostate cancer
PMID: 12771942
2
REPS2 contains EH domains and proline-rich regions for protein-protein interactions coordinating receptor-mediated endocytosis
PMID: 21907823
3
REPS2 attenuates cancer stemness through autophagy-mediated β-catenin degradation and Wnt signaling inhibition
PMID: 40514427
4
REPS2 downregulation facilitates FGF-induced migration in lens epithelial cells via FAK/Cdc42 signaling and contributes to posterior capsule opacification
PMID: 35690292
5
Low REPS2 expression is associated with lymph node metastasis and shorter survival in esophageal squamous cell carcinoma
PMID: 23803043
6
REPS2 expression is a favorable prognostic and predictive biomarker for breast cancer survival
PMID: 19776672
7
REPS2 mediates ERBB pathway inhibition and mitigates neuroinflammation in astrocytes
PMID: 39571258
Disease Associationsⓘ20
prostate cancerOpen Targets
0.32Weak
COVID-19Open Targets
0.31Weak
marginal zone B-cell lymphomaOpen Targets
0.27Weak
developmental and epileptic encephalopathy, 1Open Targets
0.12Weak
genetic developmental and epileptic encephalopathyOpen Targets
0.12Weak
infantile epileptic-dyskinetic encephalopathyOpen Targets
0.12Weak
infantile spasmsOpen Targets
0.12Weak
Spasticity - intellectual disability - X-linked epilepsyOpen Targets
0.12Weak
early-onset non-syndromic cataractOpen Targets
0.11Weak
Total congenital cataractOpen Targets
0.10Suggestive
Partial congenital cataractOpen Targets
0.10Suggestive
Cataract-microcornea syndromeOpen Targets
0.10Suggestive
early-onset nuclear cataractOpen Targets
0.09Suggestive
early-onset zonular cataractOpen Targets
0.09Suggestive
hereditary hyperferritinemia with congenital cataractsOpen Targets
0.08Suggestive
pulverulent cataractOpen Targets
0.08Suggestive
isolated ectopia lentisOpen Targets
0.08Suggestive
Posterior polar cataractOpen Targets
0.08Suggestive
Cataract with Y-shaped suture opacitiesOpen Targets
0.07Suggestive
cataract 35Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RALBP1Protein interaction100%GRB2Protein interaction100%EPS15Protein interaction88%EPN2Protein interaction84%EPN1Protein interaction83%AP2A1Protein interaction79%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
39%
Liver
32%
Ovary
18%
Lung
17%
Heart
8%
Gene Interaction Network
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REPS2RALBP1GRB2EPS15EPN2EPN1AP2A1
PROTEIN STRUCTURE
Preparing viewer…
PDB1IQ3 · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.61LoF Tolerant
pLIⓘ
0.11Tolerant
Observed/Expected LoF0.43 [0.31–0.61]
RankingsWhere REPS2 stands among ~20K protein-coding genes
  • #10,384of 20,598
    Most Researched39
  • #4,207of 17,882
    Most Constrained (LOEUF)0.61 · top quartile
Genes detectedREPS2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
REPS2 downregulation facilitates FGF-induced adhesion and migration in human lens epithelial cells through FAK/Cdc42 signaling and contributes to posterior capsule opacification.
PMID: 35690292
Cell Signal · 2022
1.00
2
Expression and clinical significance of REPS2 in human esophageal squamous cell carcinoma.
PMID: 23803043
Asian Pac J Cancer Prev · 2013
0.90
3
TMEM25, REPS2 and Meis 1: favourable prognostic and predictive biomarkers for breast cancer.
PMID: 19776672
Tumour Biol · 2009
0.80
4
REPS2/POB1 is downregulated during human prostate cancer progression and inhibits growth factor signalling in prostate cancer cells.
PMID: 12771942
Oncogene · 2003
0.70
5
Reps2: a cellular signaling and molecular trafficking nexus.
PMID: 21907823
Int J Biochem Cell Biol · 2011
0.60