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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RAB11FIP4
RAB11 family interacting protein 4
Chromosome 17 · 17q11.2
NCBI Gene: 84440Ensembl: ENSG00000131242.19HGNC: HGNC:30267UniProt: Q86YS3
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GO:0005615protein bindingsmall GTPase bindingprotein homodimerization activitytype 2 diabetes mellitusAbnormality of the skeletal systemsubstance-related disordernephrotic syndrome
✦AI Summary

RAB11FIP4 is a regulator of endocytic trafficking that functions as an adaptor protein controlling membrane recycling pathways. Structurally, it acts as a small GTPase-binding protein that localizes to recycling endosomes and participates in delivery of endosomal membranes to cellular compartments 1. Its primary established mechanism involves regulating endocytic recycling and membrane trafficking during cytokinesis, where it delivers recycling endosome membranes to the cleavage furrow during late cell division stages. RAB11FIP4 plays an emerging role in lysosomal homeostasis and autophagy regulation. In cystinosis models, RAB11FIP4 downregulation impairs autophagic flux and lysosomal function; reconstituting RAB11FIP4 expression restored normal autophagosome levels, decreased LC3B-II accumulation, and increased LAMP2A localization at lysosomes, ultimately reducing endoplasmic reticulum stress 1. Additionally, RAB11FIP4 regulates lysosomal trafficking and autophagy during mycobacterial infection 2. Clinically, RAB11FIP4 has been implicated in multiple disease contexts. It was identified as a candidate gene harboring de novo variants in neurodevelopmental disorder cohorts 3, and as a differentially expressed gene enriched in osteoarthritis-associated genomic regions and chondrocyte dedifferentiation 4. RAB11FIP4 is also downregulated in polypoidal choroidal vasculopathy and may serve as a biomarker for anti-VEGF treatment responsiveness 5. Notably, RAB11FIP4 has been identified among tumor-specific isoforms in high-grade serous ovarian cancer 6.

Sources cited
1
RAB11FIP4 regulates endocytic trafficking and lysosomal homeostasis; reconstitution rescues autophagy defects and reduces ER stress in cystinosis models
PMID: 39434668
2
RAB11FIP4 identified as candidate gene with de novo variants in neurodevelopmental disorder cohorts
PMID: 38965372
3
RAB11FIP4 differentially expressed with passaging in chondrocytes and enriched in osteoarthritis genome-wide association studies
PMID: 38323585
4
RAB11FIP4 downregulated in polypoidal choroidal vasculopathy and potentially associated with anti-VEGF treatment response
PMID: 39420792
5
RAB11FIP4 regulates lysosomal trafficking and autophagy during mycobacterial infection of macrophages
PMID: 27014637
6
RAB11FIP4 identified as tumor-specific isoform enriched in high-grade serous ovarian cancer
PMID: 26015570
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.37Weak
Abnormality of the skeletal systemOpen Targets
0.36Weak
substance-related disorderOpen Targets
0.31Weak
nephrotic syndromeOpen Targets
0.27Weak
vertebral column disorderOpen Targets
0.23Weak
prostate carcinomaOpen Targets
0.20Weak
prostate cancerOpen Targets
0.11Weak
Familial prostate cancerOpen Targets
0.11Weak
endometrial cancerOpen Targets
0.10Weak
cervical carcinomaOpen Targets
0.10Suggestive
degeneration of macula and posterior poleOpen Targets
0.10Suggestive
diabetes mellitusOpen Targets
0.09Suggestive
osteoarthritisOpen Targets
0.08Suggestive
smoking initiationOpen Targets
0.08Suggestive
type 1 diabetes mellitusOpen Targets
0.06Suggestive
Abruptio PlacentaeOpen Targets
0.06Suggestive
smoking cessationOpen Targets
0.05Suggestive
attention deficit hyperactivity disorderOpen Targets
0.05Suggestive
Dupuytren ContractureOpen Targets
0.05Suggestive
hemorrhoidOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ARF6Protein interaction99%EXOC7Protein interaction99%RAB11AProtein interaction90%RAB11FIP2Protein interaction90%RAB11FIP5Protein interaction90%RAB25Protein interaction90%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
48%
Heart
6%
Liver
5%
Lung
5%
Ovary
3%
Gene Interaction Network
Click a node to explore
RAB11FIP4ARF6EXOC7RAB11ARAB11FIP2RAB11FIP5RAB25
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q86YS3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.54Moderately Constrained
pLIⓘ
0.81Intermediate
Observed/Expected LoF0.38 [0.27–0.54]
RankingsWhere RAB11FIP4 stands among ~20K protein-coding genes
  • #12,013of 20,598
    Most Researched30
  • #3,373of 17,882
    Most Constrained (LOEUF)0.54 · top quartile
Genes detectedRAB11FIP4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes.
PMID: 38965372
Eur J Hum Genet · 2024
1.00
2
Effect of Passaging on Bovine Chondrocyte Gene Expression and Engineered Cartilage Production.
PMID: 38323585
Tissue Eng Part A · 2024
0.90
3
Reconstitution of Rab11-FIP4 Expression Rescues Cellular Homeostasis in Cystinosis.
PMID: 39434668
Mol Cell Biol · 2024
0.80
4
Integrative analysis of DNA methylation and gene expression profiles to identify biomarkers of glioblastoma.
PMID: 34773808
Cancer Genet · 2021
0.70
5
Responsiveness of anti-VEGF treatment for polypoidal choroidal vasculopathy based on aqueous humour proteomics: A preliminary study.
PMID: 39420792
Acta Ophthalmol · 2025
0.60