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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RUSC2
RUN and SH3 domain containing 2
Chromosome 9 Β· 9p13.3
NCBI Gene: 9853Ensembl: ENSG00000198853.13HGNC: HGNC:23625UniProt: Q8N2Y8
41PubMed Papers
21Diseases
0Drugs
40Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
plasma membraneextracellular exosomecytoplasmic vesiclesmall GTPase bindingintellectual disability, autosomal recessive 61diabetic eye diseasegastritisovarian dysfunction
✦AI Summary

RUSC2 (RUN and SH3 domain containing 2) is a vesicular trafficking adaptor protein that functions in membrane transport at the trans-Golgi network (TGN) and cell periphery. RUSC2 associates with the AP-4 complex and serves as a direct effector of the Rab35 GTPase, with Arg1015 functioning as a "pseudo-arginine finger" to stabilize GTP-bound Rab35 1. The protein couples AP-4-dependent vesicles to kinesin-1 motors via interaction with kinesin light chains, facilitating peripheral distribution of ATG9A-containing vesicles and controlling basal EGFR cell surface display and recycling 23. RUSC2 depletion impairs EGFR transport from the Golgi and reduces EGF-induced cell proliferation, indicating physiologic importance for growth factor signaling 3. Genetically, loss-of-function mutations in RUSC2 cause autosomal recessive intellectual developmental disorder 61, characterized by central hypotonia, microcephaly, moderate-to-severe intellectual disability, early-onset epilepsy, and absent corpus callosum splenium 45. Emerging evidence suggests circular RNA derived from RUSC2 (circ_RUSC2) has disease-suppressive functions in cardiovascular and cancer contexts, though these involve the circular transcript rather than the protein product 67.

Sources cited
1
RUSC2 colocalizes with EGFR and EHD1 at Golgi and vesicular structures; RUSC2 depletion reduces cell surface EGFR expression and impairs EGF-induced proliferation
PMID: 31932478
2
RUSC2 is a Rab35 GTPase effector; Arg1015 of RUSC2 stabilizes GTP-bound Rab35; provides atomic structures of Rab35/RUSC2 complex
PMID: 30905672
3
RUSC2 couples ATG9A-containing vesicles to kinesin-1 motor via interaction with kinesin light chains to mediate peripheral distribution
PMID: 34432492
4
Loss-of-function RUSC2 mutations cause intellectual disability, microcephaly, hypotonia, epilepsy, and absent splenium
PMID: 27612186
5
RUSC2 variants are confirmed to cause neurodevelopmental disorder with intellectual disability phenotype
PMID: 36553572
6
Circular RNA derived from RUSC2 regulates vascular smooth muscle cell proliferation and migration via miR-661/SYK axis
PMID: 31199889
7
Circ_RUSC2 suppresses colorectal cancer progression by sequestering miR-661 and elevating TUSC2 expression
PMID: 40243558
8
RUSC2 is a 1516 amino acid protein with RUN, leucine zipper, and SH3 domains; located on chromosome 9p13
PMID: 15375525
Disease Associationsβ“˜21
intellectual disability, autosomal recessive 61Open Targets
0.60Moderate
diabetic eye diseaseOpen Targets
0.24Weak
gastritisOpen Targets
0.15Weak
ovarian dysfunctionOpen Targets
0.13Weak
Stuve-Wiedemann syndrome 2Open Targets
0.12Weak
inherited retinal dystrophyOpen Targets
0.04Suggestive
epilepsyOpen Targets
0.04Suggestive
lung cancerOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.01Suggestive
microcephalyOpen Targets
0.01Suggestive
Intellectual disabilityOpen Targets
0.01Suggestive
X-linked hyper-IgM syndromeOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
Charcot-Marie-Tooth diseaseOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
non-small cell lung carcinomaOpen Targets
0.00Suggestive
systemic lupus erythematosusOpen Targets
0.00Suggestive
ulcerative colitisOpen Targets
0.00Suggestive
meningeal tuberculosisOpen Targets
0.00Suggestive
Parkinson diseaseOpen Targets
0.00Suggestive
Intellectual developmental disorder, autosomal recessive 61UniProt
Pathogenic Variants40
NM_014806.5(RUSC2):c.4177C>T (p.Arg1393Ter)Pathogenic
not provided|Intellectual disability, autosomal recessive 61
β˜…β˜…β˜†β˜†2025β†’ Residue 1393
NM_014806.5(RUSC2):c.2581C>T (p.Arg861Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 861
NM_014806.5(RUSC2):c.2650dup (p.Ser884fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 884
NM_014806.5(RUSC2):c.3947dup (p.Pro1317fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1317
NM_014806.5(RUSC2):c.2215dup (p.Ala739fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 739
NM_014806.5(RUSC2):c.3073_3076dup (p.Ser1026fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1026
NM_014806.5(RUSC2):c.4052_4053del (p.Ser1351fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 1351
NM_014806.5(RUSC2):c.547C>T (p.Gln183Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 183
NM_014806.5(RUSC2):c.4227G>A (p.Trp1409Ter)Pathogenic
Intellectual disability, autosomal recessive 61
β˜…β˜†β˜†β˜†2024β†’ Residue 1409
NM_014806.5(RUSC2):c.3229C>T (p.Gln1077Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 1077
NM_014806.5(RUSC2):c.4207_4210dup (p.Arg1404delinsLysTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 1404
NM_014806.5(RUSC2):c.722_727dup (p.Ser243Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 243
NM_014806.5(RUSC2):c.295C>T (p.Arg99Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 99
NM_014806.5(RUSC2):c.4047del (p.Asp1350fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 1350
NM_014806.5(RUSC2):c.3236-2A>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_014806.5(RUSC2):c.3754dup (p.Glu1252fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 1252
NM_014806.5(RUSC2):c.3758_3759insTG (p.Ala1254fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 1254
NM_014806.5(RUSC2):c.3361del (p.Trp1121fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 1121
NM_014806.5(RUSC2):c.2969_2983+15delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_014806.5(RUSC2):c.314_317dup (p.Gln106fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 106
View on ClinVar β†—
Related Genes
RAB35Protein interaction96%GOLGA2Protein interaction90%RAB1AProtein interaction90%RAB1BProtein interaction90%FDFT1Protein interaction87%MVDProtein interaction71%
Tissue Expression6 tissues
Brain
100%
Heart
97%
Ovary
91%
Lung
68%
Liver
54%
Bone Marrow
54%
Gene Interaction Network
Click a node to explore
RUSC2RAB35GOLGA2RAB1ARAB1BFDFT1MVD
PROTEIN STRUCTURE
Preparing viewer…
PDB6IF2 Β· 2.40 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.38Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.29 [0.22–0.38]
RankingsWhere RUSC2 stands among ~20K protein-coding genes
  • #10,077of 20,598
    Most Researched41
  • #1,552of 5,498
    Most Pathogenic Variants40
  • #1,859of 17,882
    Most Constrained (LOEUF)0.38 Β· top quartile
Genes detectedRUSC2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
EHD1 and RUSC2 Control Basal Epidermal Growth Factor Receptor Cell Surface Expression and Recycling.
PMID: 31932478
Mol Cell Biol Β· 2020
1.00
2
Circ_RUSC2 upregulates the expression of miR-661 target gene
PMID: 31199889
Biochem Cell Biol Β· 2019
0.90
3
Rab35/ACAP2 and Rab35/RUSC2 Complex Structures Reveal Molecular Basis for Effector Recognition by Rab35 GTPase.
PMID: 30905672
Structure Β· 2019
0.80
4
Circ_RUSC2 Sequesters miR-661 and Elevates TUSC2 Expression to Suppress Colorectal Cancer Progression.
PMID: 40243558
Int J Mol Sci Β· 2025
0.70
5
RUSC2 and WDR47 oppositely regulate kinesin-1-dependent distribution of ATG9A to the cell periphery.
PMID: 34432492
Mol Biol Cell Β· 2021
0.60