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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RAB40B
RAB40B, member RAS oncogene family
Chromosome 17 · 17q25.3
NCBI Gene: 10966Ensembl: ENSG00000141542.12HGNC: HGNC:18284UniProt: Q12829
29PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
lamellipodium membraneubiquitin-like ligase-substrate adaptor activityrufflenuclear envelopealcohol drinkingAbruptio Placentaeenteritisskin disease
✦AI Summary

RAB40B is an atypical Rab GTPase that functions as a substrate-recognition component of the ECS(RAB40B) E3 ubiquitin ligase complex, regulating cell migration and invasion through targeted protein ubiquitination 12. Unlike typical Rab proteins, RAB40B contains a unique SOCS box domain that enables assembly of the CRL5 E3 ligase complex 31. The protein operates through two primary mechanisms: as part of the ECS complex, GTP-bound RAB40B promotes ubiquitination and degradation of LIMA1/EPLIN, regulating leading-edge actin dynamics, and ubiquitinates RAP2A GTPase to control its localization and activation in lamellipodia 12. Additionally, RAB40B functions independently by binding TKS5 effector protein to mediate trafficking of MMP2 and MMP9 to invadopodia, promoting extracellular matrix degradation during cancer invasion 45. Clinical significance includes associations with cancer progression, as elevated RAB40B expression correlates with gastric cancer invasion, lymph node metastasis, and poor survival 6. Mutations affecting the SOCS box cause axonal peripheral neuropathy (Charcot-Marie-Tooth disease type 2), demonstrating its critical role in neuronal function 3. RAB40B represents a therapeutic target, as its activity is regulated by tumor suppressor miRNA miR-204 4.

Sources cited
1
RAB40B functions as substrate-recognition component of ECS E3 ligase complex and regulates LIMA1/EPLIN ubiquitination
PMID: 33999101
2
RAB40B/Cullin5 complex ubiquitinates RAP2A to regulate its localization and activation in lamellipodia
PMID: 35293963
3
RAB40B binds TKS5 to promote invadopodia-mediated extracellular matrix degradation
PMID: 27789576
4
RAB40B regulates trafficking of MMP2 and MMP9 during invadopodia formation
PMID: 23902685
5
RAB40B mutations cause axonal peripheral neuropathy and contain unique SOCS box domain
PMID: 38196136
6
RAB40B upregulation correlates with gastric cancer invasion, metastasis, and poor prognosis
PMID: 25790780
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.27Weak
Abruptio PlacentaeOpen Targets
0.23Weak
enteritisOpen Targets
0.20Weak
skin diseaseOpen Targets
0.19Weak
breast cancerOpen Targets
0.10Weak
neoplasmOpen Targets
0.09Suggestive
Blackfan-Diamond anemiaOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
acute kidney injuryOpen Targets
0.08Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.08Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.08Suggestive
inosine triphosphatase deficiencyOpen Targets
0.07Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.07Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.07Suggestive
delta-beta-thalassemiaOpen Targets
0.06Suggestive
Autosomal dominant methemoglobinemiaOpen Targets
0.06Suggestive
hemoglobin D diseaseOpen Targets
0.06Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.06Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.06Suggestive
beta thalassemiaOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ELOBProtein interaction86%RABGGTBProtein interaction85%CUL5Protein interaction85%ELOCProtein interaction82%TIMP2Protein interaction73%BAIAP2Protein interaction73%
Tissue Expression6 tissues
Brain
100%
Heart
80%
Ovary
63%
Liver
63%
Lung
18%
Bone Marrow
8%
Gene Interaction Network
Click a node to explore
RAB40BELOBRABGGTBCUL5ELOCTIMP2BAIAP2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q12829
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.57LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.08 [0.76–1.57]
RankingsWhere RAB40B stands among ~20K protein-coding genes
  • #12,217of 20,598
    Most Researched29
  • #15,507of 17,882
    Most Constrained (LOEUF)1.57
Genes detectedRAB40B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Peripheral Neuropathy and Decreased Locomotion of a
PMID: 38196136
Exp Neurobiol · 2023
1.00
2
The role and regulation of Rab40b-Tks5 complex during invadopodia formation and cancer cell invasion.
PMID: 27789576
J Cell Sci · 2016
0.90
3
DCLK1-mediated regulation of invadopodia dynamics and matrix metalloproteinase trafficking drives invasive progression in head and neck squamous cell carcinoma.
PMID: 39994636
Mol Cancer · 2025
0.80
4
Rab40-Cullin5 complex regulates EPLIN and actin cytoskeleton dynamics during cell migration.
PMID: 33999101
J Cell Biol · 2021
0.70
5
Ubiquitylation by Rab40b/Cul5 regulates Rap2 localization and activity during cell migration.
PMID: 35293963
J Cell Biol · 2022
0.60