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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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RAB27A
RAB27A, member RAS oncogene family
Chromosome 15 Β· 15q21.3
NCBI Gene: 5873Ensembl: ENSG00000069974.18HGNC: HGNC:9766UniProt: A2RU94
193PubMed Papers
21Diseases
0Drugs
61Pathogenic Variants
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
GTP bindingmelanosomeexocytic vesiclelysosomeGriscelli syndrome type 2Griscelli diseaseGriscelli disease type 2Griscelli syndrome
✦AI Summary

RAB27A is a small GTPase that regulates multiple aspects of membrane trafficking and vesicle transport. The protein cycles between inactive GDP-bound and active GTP-bound forms to control vesicle formation, movement, and fusion with target membranes 1. RAB27A plays a critical role in exosome secretion, where it controls multivesicular body (MVE) docking at the plasma membrane and prevents their lysosomal degradation 23. In hepatocytes, RAB27A facilitates production of extracellular vesicles that can promote liver fibrosis and cancer metastasis 43. The protein is essential for cytotoxic granule exocytosis in lymphocytes, controlling both granule maturation and docking at immunological synapses 5. RAB27A also regulates insulin granule recycling in pancreatic beta-cells through stimulus-endocytosis coupling 6. Disease relevance includes Griscelli syndrome 2 and hemophagocytic lymphohistiocytosis, where RAB27A mutations cause granule trafficking defects 7. Additionally, RAB27A facilitates viral protein transport to the plasma membrane during influenza infection 8. The protein's role in exosome-mediated cellular waste disposal may contribute to aging regulation 9.

Sources cited
1
RAB27A cycles between GDP/GTP forms to regulate vesicle formation, movement, and fusion
PMID: 30771381
2
RAB27A controls MVE docking at plasma membrane for exosome secretion
PMID: 19966785
3
RAB27A prevents MVB lysosomal degradation and facilitates EV production in hepatocytes
PMID: 35849032
4
RAB27A upregulation in fatty liver promotes EV production that enhances cancer metastasis
PMID: 37172577
5
RAB27A is required for cytotoxic granule maturation and docking at immunological synapses
PMID: 18812475
6
RAB27A regulates insulin granule recycling through stimulus-endocytosis coupling
PMID: 21187662
7
RAB27A mutations are associated with granule abnormality diseases and HLH
PMID: 32107531
8
RAB27A regulates transport of influenza viral membrane proteins to plasma membrane
PMID: 40623997
9
RAB27A-mediated exosome release helps dispose of cellular waste and delays senescence
PMID: 36683247
Disease Associationsβ“˜21
Griscelli syndrome type 2Open Targets
0.81Strong
Griscelli diseaseOpen Targets
0.75Strong
Griscelli disease type 2Open Targets
0.75Strong
Griscelli syndromeOpen Targets
0.54Moderate
autoinflammatory syndromeOpen Targets
0.50Moderate
genetic disorderOpen Targets
0.45Moderate
acrocephalopolydactylyOpen Targets
0.37Weak
complex regional pain syndromeOpen Targets
0.32Weak
Increased total eosinophil countOpen Targets
0.28Weak
CINCA syndromeOpen Targets
0.18Weak
neoplasmOpen Targets
0.11Weak
Griscelli disease type 3Open Targets
0.10Weak
Griscelli syndrome type 3Open Targets
0.10Weak
non-small cell lung carcinomaOpen Targets
0.10Suggestive
ringed hair diseaseOpen Targets
0.10Suggestive
gliomaOpen Targets
0.09Suggestive
Microcephaly - albinism - digital anomaliesOpen Targets
0.09Suggestive
microcephaly-albinism-digital anomalies syndromeOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
uncombable hair syndromeOpen Targets
0.09Suggestive
Griscelli syndrome 2UniProt
Pathogenic Variants61
NM_183235.3(RAB27A):c.423_424del (p.Arg141fs)Pathogenic
Griscelli syndrome type 2
β˜…β˜…β˜†β˜†2026β†’ Residue 141
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys)Pathogenic
not provided|Griscelli syndrome type 2|Autoinflammatory syndrome|RAB27A-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 82
NM_183235.3(RAB27A):c.352C>T (p.Gln118Ter)Pathogenic
Griscelli syndrome type 2|Multisystem inflammatory syndrome in children|See cases
β˜…β˜…β˜†β˜†2025β†’ Residue 118
NM_183235.3(RAB27A):c.335del (p.Asn112fs)Pathogenic
Griscelli syndrome type 2|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 112
NM_183235.3(RAB27A):c.377del (p.Pro126fs)Pathogenic
Griscelli syndrome type 2|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 126
NM_183235.3(RAB27A):c.467+1G>CPathogenic
Griscelli syndrome type 2|See cases
β˜…β˜…β˜†β˜†2025
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter)Pathogenic
Griscelli syndrome type 2|not provided|Autoinflammatory syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 184
NM_183235.3(RAB27A):c.400_401del (p.Lys134fs)Pathogenic
Griscelli syndrome type 2|Autoinflammatory syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 134
NM_183235.3(RAB27A):c.149del (p.Arg50fs)Pathogenic
Griscelli syndrome|Griscelli syndrome type 2
β˜…β˜…β˜†β˜†2024β†’ Residue 50
NM_183235.3(RAB27A):c.514C>T (p.Gln172Ter)Pathogenic
Griscelli syndrome type 2
β˜…β˜…β˜†β˜†2024β†’ Residue 172
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs)Pathogenic
Griscelli syndrome type 2|not provided|RAB27A-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 172
NM_183235.3(RAB27A):c.239+1G>TPathogenic
Autoinflammatory syndrome|Griscelli syndrome type 2
β˜…β˜…β˜†β˜†2023
NM_183235.3(RAB27A):c.18_19del (p.Tyr6_Asp7delinsTer)Pathogenic
not provided|Griscelli syndrome type 2
β˜…β˜…β˜†β˜†2021β†’ Residue 6
NM_183235.3(RAB27A):c.227C>T (p.Ala76Val)Pathogenic
Griscelli syndrome type 2
β˜…β˜†β˜†β˜†2026β†’ Residue 76
NM_183235.3(RAB27A):c.442_443del (p.Ala148fs)Pathogenic
Griscelli syndrome type 2
β˜…β˜†β˜†β˜†2025β†’ Residue 148
NM_183235.3(RAB27A):c.382dup (p.Ile128fs)Pathogenic
Griscelli syndrome type 2
β˜…β˜†β˜†β˜†2025β†’ Residue 128
NM_183235.3(RAB27A):c.240-47_240delinsTATTTCATACGAAATTTATALikely pathogenic
RAB27A-related disorder|Griscelli syndrome type 2
β˜…β˜†β˜†β˜†2025
NM_183235.3(RAB27A):c.229G>A (p.Gly77Arg)Likely pathogenic
Griscelli syndrome type 2
β˜…β˜†β˜†β˜†2025β†’ Residue 77
NM_183235.3(RAB27A):c.239G>C (p.Arg80Thr)Pathogenic
Griscelli syndrome type 2
β˜…β˜†β˜†β˜†2025β†’ Residue 80
NM_183235.3(RAB27A):c.476A>G (p.Tyr159Cys)Likely pathogenic
Griscelli syndrome type 2
β˜…β˜†β˜†β˜†2025β†’ Residue 159
View on ClinVar β†—
Related Genes
MYO7AProtein interaction100%RABGGTAProtein interaction100%MLPHProtein interaction100%STX11Protein interaction99%STXBP2Protein interaction97%SYTL1Protein interaction97%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
98%
Liver
73%
Brain
22%
Ovary
15%
Heart
14%
Gene Interaction Network
Click a node to explore
RAB27AMYO7ARABGGTAMLPHSTX11STXBP2SYTL1
PROTEIN STRUCTURE
Preparing viewer…
PDB8P3I Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.13LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.76 [0.52–1.13]
RankingsWhere RAB27A stands among ~20K protein-coding genes
  • #2,225of 20,598
    Most Researched193 Β· top quartile
  • #1,152of 5,498
    Most Pathogenic Variants61 Β· top quartile
  • #11,630of 17,882
    Most Constrained (LOEUF)1.13
Genes detectedRAB27A
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Pediatric hemophagocytic lymphohistiocytosis.
PMID: 32107531
Blood Β· 2020
1.00
2
Rab27a and Rab27b control different steps of the exosome secretion pathway.
PMID: 19966785
Nat Cell Biol Β· 2010
0.90
3
Extracellular vesicles in fatty liver promote a metastatic tumor microenvironment.
PMID: 37172577
Cell Metab Β· 2023
0.80
4
AGE induced macrophage-derived exosomes induce endothelial dysfunction in diabetes via miR-22-5p/FOXP1.
PMID: 40205587
Cardiovasc Diabetol Β· 2025
0.72
5
Hepatocyte-derived MASP1-enriched small extracellular vesicles activate HSCs to promote liver fibrosis.
PMID: 35849032
Hepatology Β· 2023
0.70