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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RASEF
RAS and EF-hand domain containing
Chromosome 9 · 9q21.32
NCBI Gene: 158158Ensembl: ENSG00000165105.11HGNC: HGNC:26464UniProt: Q8IZ41
26PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
perinuclear region of cytoplasmcytoplasmearly endosomeGTP bindingneurodegenerative diseaseAnxietyEscherichia coli Infectionstype 2 diabetes mellitus
✦AI Summary

RASEF (Rab45) is a large, atypical Rab GTPase containing an N-terminal EF-hand calcium-binding domain, coiled-coil motif, and C-terminal Rab homology domain 1. It functions as a Rab GTPase that acts as a dynein adapter protein, activating dynein-mediated transport on microtubules in a calcium-independent manner 2. RASEF exhibits self-interaction through its coiled-coil region and localizes to the perinuclear area in a guanine nucleotide-dependent manner 1. It regulates zymogen granule formation and secretion in pancreatic acinar cells and participates in vesicle-mediated transport. RASEF has divergent roles in cancer depending on tissue context. In colorectal cancer, high RASEF expression correlates with significantly better prognosis and associates with mismatch repair gene expression, suggesting a tumor-suppressor function 3. Conversely, in lung cancer, elevated RASEF promotes cell growth through enhanced ERK1/2 signaling and associates with poor prognosis 4. In uveal melanoma, RASEF promoter methylation silences the gene, with homozygosity and methylation associated with decreased survival, supporting a tumor-suppressor role 5. Additionally, RASEF hypermethylation mediates cigarette smoke-induced pulmonary artery remodeling in hypertension models, and RASEF overexpression reverses these pathological changes 6.

Sources cited
1
RASEF acts as a dynein adapter protein activating dynein-mediated transport in a calcium-independent manner
PMID: 30814157
2
RASEF contains EF-hand domain, coiled-coil motif, and Rab domain; exhibits self-interaction and perinuclear localization regulated by guanine nucleotide states
PMID: 17448446
3
High RASEF expression in colorectal cancer correlates with better prognosis and mismatch repair gene expression, suggesting tumor-suppressor function
PMID: 31949824
4
RASEF promotes lung cancer cell growth through ERK1/2 signaling interaction and associates with poor prognosis
PMID: 23686708
5
RASEF promoter methylation and homozygosity in uveal melanoma associate with decreased survival, supporting tumor-suppressor role
PMID: 18385040
6
RASEF hypermethylation mediates cigarette smoke-induced pulmonary artery remodeling; RASEF overexpression reverses remodeling
PMID: 30845941
7
RASEF (Rab45) is classified as a large Rab GTPase family member with EF-hand, coiled-coil, and Rab domains expressed as multiple isoforms
PMID: 34299309
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.33Weak
AnxietyOpen Targets
0.32Weak
Escherichia coli InfectionsOpen Targets
0.30Weak
type 2 diabetes mellitusOpen Targets
0.29Weak
ovarian neoplasmOpen Targets
0.28Weak
endocrine system diseaseOpen Targets
0.26Weak
diabetes mellitusOpen Targets
0.24Weak
Abruptio PlacentaeOpen Targets
0.24Weak
brain aneurysmOpen Targets
0.23Weak
acute tonsillitisOpen Targets
0.23Weak
esophageal ulcerOpen Targets
0.23Weak
diabetic ketoacidosisOpen Targets
0.23Weak
poisoningOpen Targets
0.23Weak
smoking initiationOpen Targets
0.22Weak
hypersomniaOpen Targets
0.19Weak
response to xenobiotic stimulusOpen Targets
0.19Weak
adolescent idiopathic scoliosisOpen Targets
0.19Weak
skin diseaseOpen Targets
0.19Weak
osteoarthritis, kneeOpen Targets
0.17Weak
cancerOpen Targets
0.10Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MEGF6Shared pathway100%CD163Shared pathway100%RAB36Shared pathway100%CACFD1Shared pathway100%LRP10Shared pathway100%YIPF1Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Lung
93%
Liver
43%
Ovary
30%
Heart
12%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
RASEFMEGF6CD163RAB36CACFD1LRP10YIPF1
PROTEIN STRUCTURE
Preparing viewer…
PDB2P5S · 2.15 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.20LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.92 [0.71–1.20]
RankingsWhere RASEF stands among ~20K protein-coding genes
  • #12,860of 20,598
    Most Researched26
  • #12,629of 17,882
    Most Constrained (LOEUF)1.20
Genes detectedRASEF
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
High RASEF expression is associated with a significantly better prognosis in colorectal cancer.
PMID: 31949824
Int J Clin Exp Pathol · 2018
1.00
2
RASEF is a novel diagnostic biomarker and a therapeutic target for lung cancer.
PMID: 23686708
Mol Cancer Res · 2013
0.90
3
Epigenetic regulation identifies RASEF as a tumor-suppressor gene in uveal melanoma.
PMID: 18385040
Invest Ophthalmol Vis Sci · 2008
0.80
4
DNA Methylation and Uveal Melanoma.
PMID: 29578129
Chin Med J (Engl) · 2018
0.70
5
Role of RASEF hypermethylation in cigarette smoke-induced pulmonary arterial smooth muscle remodeling.
PMID: 30845941
Respir Res · 2019
0.60