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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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RAB34
RAB34, member RAS oncogene family
Chromosome 17 Β· 17q11.2
NCBI Gene: 83871Ensembl: ENSG00000109113.20HGNC: HGNC:16519UniProt: B4DNC0
91PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
macropinocytosisruffle membranephagocytic vesiclenucleoplasmorofaciodigital syndrome 20Jeune syndromeorofaciodigital syndrome Iorofaciodigital syndrome
✦AI Summary

RAB34 is a small GTPase that functions as a key regulator of intracellular membrane trafficking and vesicular transport. As a member of the Rab GTPase superfamily, RAB34 cycles between inactive GDP-bound and active GTP-bound states to recruit effector proteins responsible for vesicle formation, movement, and fusion 1. RAB34 has multiple cellular roles: it transports proteins involved in lysosomal redistribution to the peri-Golgi region 1, mediates phagosome maturation and fusion with lysosomes during pathogen engulfment 2, and regulates adipocyte lipid metabolism through Golgi-mediated adiponectin trafficking and lipid droplet function 3. RAB34 is essential for intracellular ciliogenesis, particularly the early steps of ciliary vesicle trafficking and docking to centrioles 4, with its N-terminal LPQ sequence critical for this function 4. In craniofacial development, RAB34 controls both ciliogenesis-mediated Hedgehog signaling and type I collagen trafficking 5. Pathogenic RAB34 variants cause orofaciodigital syndrome 20 through impaired cilium assembly 6. RAB34 is also oncogenic in multiple cancers: it promotes colorectal cancer progression via MEK/ERK signaling 7, correlates with glioma aggressiveness and poor prognosis 89, and drives breast cancer metastasis through integrin Ξ²3-mediated cell migration and invasion 10.

Sources cited
1
RAB34 transports proteins involved in lysosomal redistribution to the peri-Golgi region
PMID: 27113757
2
RAB34 plays a role in phagosome maturation and fusion with lysosomes
PMID: 21255211
3
RAB34 regulates Golgi-mediated adiponectin trafficking and lipid droplet function in adipocytes
PMID: 38183057
4
The N-terminal LPQ sequence of RAB34 is required for ciliogenesis
PMID: 33860735
5
RAB34 controls ciliogenesis-mediated Hedgehog signaling and type I collagen trafficking in craniofacial development
PMID: 38852507
6
Pathogenic RAB34 variants cause orofaciodigital syndrome 20 through impaired intracellular ciliogenesis
PMID: 37384395
7
RAB34 promotes colorectal cancer progression via MEK/ERK signaling pathway
PMID: 38159835
8
RAB34 expression correlates with glioma grade progression and poor prognosis in high-grade gliomas
PMID: 25501506
9
RAB34 overexpression associates with glioma aggressiveness and immune infiltration
PMID: 36222286
10
RAB34 drives breast cancer cell migration, invasion, and adhesion through integrin Ξ²3 regulation
PMID: 29622794
Disease Associationsβ“˜21
orofaciodigital syndrome 20Open Targets
0.60Moderate
Jeune syndromeOpen Targets
0.33Weak
orofaciodigital syndromeOpen Targets
0.18Weak
orofaciodigital syndrome IOpen Targets
0.18Weak
neurodegenerative diseaseOpen Targets
0.18Weak
gliomaOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.07Suggestive
Syndactyly type 2Open Targets
0.05Suggestive
colorectal carcinomaOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.04Suggestive
obesityOpen Targets
0.04Suggestive
synpolydactyly type 1Open Targets
0.04Suggestive
polydactyly, postaxial, type A1Open Targets
0.04Suggestive
anophthalmia plus syndromeOpen Targets
0.04Suggestive
Split hand-split foot malformationOpen Targets
0.03Suggestive
Tessier number 4 facial cleftOpen Targets
0.03Suggestive
syndactyly type 4Open Targets
0.03Suggestive
multiple synostoses syndromeOpen Targets
0.03Suggestive
Pierre Robin syndrome - faciodigital anomalyOpen Targets
0.03Suggestive
Pierre Robin syndrome-faciodigital anomaly syndromeOpen Targets
0.03Suggestive
Orofaciodigital syndrome 20UniProt
Pathogenic Variants4
NM_031934.6(RAB34):c.254T>C (p.Ile85Thr)Likely pathogenic
Jeune thoracic dystrophy|Orofaciodigital syndrome 20
β˜…β˜†β˜†β˜†2023β†’ Residue 85
NM_031934.6(RAB34):c.691C>T (p.Arg231Ter)Likely pathogenic
Jeune thoracic dystrophy|Orofaciodigital syndrome 20
β˜…β˜†β˜†β˜†2023β†’ Residue 231
NM_031934.6(RAB34):c.652G>A (p.Glu218Lys)Pathogenic
Orofaciodigital syndrome 20
β˜†β˜†β˜†β˜†2024β†’ Residue 218
NM_031934.6(RAB34):c.632G>A (p.Arg211His)Pathogenic
Orofaciodigital syndrome 20
β˜†β˜†β˜†β˜†2024β†’ Residue 211
View on ClinVar β†—
Related Genes
RILPProtein interaction93%UNC13BProtein interaction81%ARMC9Shared pathway20%TXNDC15Shared pathway20%KIAA0753Shared pathway17%IQCB1Shared pathway15%
Tissue Expression6 tissues
Ovary
100%
Lung
40%
Bone Marrow
28%
Heart
20%
Brain
11%
Liver
5%
Gene Interaction Network
Click a node to explore
RAB34RILPUNC13BARMC9TXNDC15KIAA0753IQCB1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P0DI83
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.15LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.87 [0.66–1.15]
RankingsWhere RAB34 stands among ~20K protein-coding genes
  • #5,266of 20,598
    Most Researched91
  • #3,754of 5,498
    Most Pathogenic Variants4
  • #12,010of 17,882
    Most Constrained (LOEUF)1.15
Genes detectedRAB34
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Discovery of Kinetin in inhibiting colorectal cancer progression via enhancing PSMB1-mediated RAB34 degradation.
PMID: 38159835
Cancer Lett Β· 2024
1.00
2
Localization, traffic and function of Rab34 in adipocyte lipid and endocrine functions.
PMID: 38183057
J Biomed Sci Β· 2024
0.90
3
RAB34 was a progression- and prognosis-associated biomarker in gliomas.
PMID: 25501506
Tumour Biol Β· 2015
0.80
4
The N-terminal Leu-Pro-Gln sequence of Rab34 is required for ciliogenesis in hTERT-RPE1 cells.
PMID: 33860735
Small GTPases Β· 2022
0.70
5
Overexpression of RAB34 associates with tumor aggressiveness and immune infiltration in glioma.
PMID: 36222286
Biosci Rep Β· 2022
0.60