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8 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RAB5IF
RAB5 interacting factor
Chromosome 20 · 20q11.23
NCBI Gene: 55969Ensembl: ENSG00000101084.20HGNC: HGNC:15870UniProt: Q9BUV8
29PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmitochondrial respirasome assemblymulti-pass transmembrane protein insertion into ER membranemitochondrionskin cancerhair colorcutaneous melanomaIntellectual disability
✦AI Summary

RAB5IF is a multifunctional mitochondrial protein with critical roles in both protein biogenesis and mitochondrial respiration. As a component of the multi-pass translocon (MPT) complex at the endoplasmic reticulum, RAB5IF mediates insertion of multi-pass membrane proteins into lipid bilayers by occluding the SEC61 complex lateral gate to promote insertion of subsequent transmembrane regions 1. Beyond membrane protein biogenesis, RAB5IF functions as an assembly factor for mitochondrial respiratory complexes and supports mitochondrial respiration and ribosome biogenesis 2. Rab5IF operates through a RAB5IF-SUMO2-Gαi1/3 signaling axis essential for retinal angiogenesis, with SUMO2 serving as a critical downstream protein that regulates VEGF signaling 3. Pathogenic variants in RAB5IF cause craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-2 (CFSMR2), likely due to impaired ER-mitochondria interactions 2, 4. Additionally, RAB5IF has been implicated as a potential oncogenic factor, with elevated expression in hepatocellular carcinoma and non-small cell lung cancer associated with poor prognosis, where it promotes tumor proliferation via the AKT-mTOR pathway 5, 6. RAB5IF may serve as a diagnostic biomarker in steroid-induced osteonecrosis of the femoral head 7.

Sources cited
1
RAB5IF is a component of the multi-pass translocon complex that mediates insertion of multi-pass membrane proteins and occludes the SEC61 lateral gate
PMID: 36261522
2
RAB5IF is an assembly factor for mitochondrial respiratory complexes and linked to cerebrofaciothoracic dysplasia; supports OxPhos integrity
PMID: 35614220
3
RAB5IF is required for physiological and pathological retinal angiogenesis through a RAB5IF-SUMO2-Gαi1/3 signaling axis and regulates mitochondrial respiration and ribosome biogenesis
PMID: 41390488
4
RAB5IF/C20orf24 mutations cause craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-2 (CFSMR2); heterodimerizes with TMCO1
PMID: 36708876
5
LncRNA RAB5IF is overexpressed in hepatocellular carcinoma and promotes cell proliferation via LGR5-mediated β-catenin and c-Myc signaling
PMID: 31717443
6
RAB5IF is upregulated in non-small cell lung cancer and promotes cell proliferation and migration through the AKT-mTOR pathway
PMID: 40318299
7
RAB5IF is identified as a mitochondrial-related biomarker associated with steroid-induced osteonecrosis of the femoral head
PMID: 38384969
Disease Associationsⓘ21
skin cancerOpen Targets
0.40Weak
hair colorOpen Targets
0.39Weak
cutaneous melanomaOpen Targets
0.37Weak
Abnormality of the vertebral columnOpen Targets
0.33Weak
Bifid ribsOpen Targets
0.33Weak
cleft lipOpen Targets
0.33Weak
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2Open Targets
0.33Weak
Flat faceOpen Targets
0.33Weak
HypertelorismOpen Targets
0.33Weak
Intellectual disabilityOpen Targets
0.33Weak
MacrocephalyOpen Targets
0.33Weak
MicrognathiaOpen Targets
0.33Weak
Rib fusionOpen Targets
0.33Weak
scoliosisOpen Targets
0.33Weak
skin neoplasmOpen Targets
0.28Weak
basal cell carcinomaOpen Targets
0.27Weak
Cerebro-facio-thoracic dysplasiaOpen Targets
0.26Weak
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndromeOpen Targets
0.26Weak
hepatocellular carcinomaOpen Targets
0.06Suggestive
Abnormality of the skeletal systemOpen Targets
0.05Suggestive
Craniofacial dysmorphism, skeletal anomalies and impaired intellectual development syndrome 2UniProt
Pathogenic Variants1
NM_018840.5(RAB5IF):c.75G>A (p.Trp25Ter)Pathogenic
10 conditions|Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1|Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2
☆☆☆☆2021→ Residue 25
View on ClinVar ↗
Related Genes
TMCO1Protein interaction75%HIGD1BShared pathway50%HIGD1CShared pathway50%NOMO2Shared pathway50%HIGD2BShared pathway50%NOMO1Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Liver
79%
Lung
64%
Bone Marrow
37%
Ovary
18%
Heart
11%
Gene Interaction Network
Click a node to explore
RAB5IFTMCO1HIGD1BHIGD1CNOMO2HIGD2BNOMO1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BUV8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.14LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.72 [0.47–1.14]
RankingsWhere RAB5IF stands among ~20K protein-coding genes
  • #12,218of 20,598
    Most Researched29
  • #5,272of 5,498
    Most Pathogenic Variants1
  • #11,887of 17,882
    Most Constrained (LOEUF)1.14
Genes detectedRAB5IF
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Defining mitochondrial protein functions through deep multiomic profiling.
PMID: 35614220
Nature · 2022
1.00
2
Endothelial RAB5IF is required for pathological and developmental retinal angiogenesis.
PMID: 41390488
Nat Commun · 2025
0.88
3
Identification and analysis of mitochondria-related central genes in steroid-induced osteonecrosis of the femoral head, along with drug prediction.
PMID: 38384969
Front Endocrinol (Lausanne) · 2024
0.75
4
Analysis of gut microbiome, host genetics, and plasma metabolites reveals gut microbiome-host interactions in the Japanese population.
PMID: 37935197
Cell Rep · 2023
0.63
5
The Pivotal Role of Long Noncoding RNA RAB5IF in the Proliferation of Hepatocellular Carcinoma Via LGR5 Mediated β-Catenin and c-Myc Signaling.
PMID: 31717443
Biomolecules · 2019
0.50