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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RPH3AL
rabphilin 3A like (without C2 domains)
Chromosome 17 · 17p13.3
NCBI Gene: 9501Ensembl: ENSG00000181031.17HGNC: HGNC:10296UniProt: A8K7D5
31PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpositive regulation of calcium ion-dependent exocytosiscalcium-dependent activation of synaptic vesicle fusionsynapseovarian neoplasmpoisoningpreeclampsiaPancytopenia
✦AI Summary

RPH3AL (rabphilin-3A-like) is a Rab GTPase effector protein involved in regulated exocytosis, particularly in endocrine cells. Mechanistically, RPH3AL acts as a dual effector that cooperatively binds both Rab2a and Rab27a in a GTP-dependent manner, orchestrating the transition from granule maturation to exocytosis 1. In pancreatic β-cells, the ternary Rab2a-Noc2-Rab27a complex localizes on immature perinuclear granules and is essential for glucose-stimulated insulin secretion 1. Clinically, RPH3AL functions as a putative tumor suppressor. Loss of heterozygosity (LOH) at the RPH3AL locus (17p13.3) is detected in approximately 66% of breast cancers and is significantly associated with nodal metastasis, advanced stage, large tumor size, and poor patient survival 2. Similarly, RPH3AL mutations have been identified in colorectal cancers, though in only a minority of cases 3. Circulating autoantibodies against RPH3AL are prevalent in 73% of colorectal cancer patients versus 16% of healthy controls, suggesting potential diagnostic utility 4. Additionally, differential DNA methylation of RPH3AL has been observed in male infertility and aortic aneurysm pathology 56, indicating broader disease relevance beyond cancer.

Sources cited
1
RPH3AL (Noc2) acts as dual effector binding Rab2a and Rab27a to regulate transition from granule maturation to exocytosis in insulin secretion
PMID: 27927751
2
Loss of heterozygosity at RPH3AL locus associates with aggressive breast cancer features and poor survival
PMID: 26070152
3
RPH3AL mutations identified in minority of colorectal cancer cases, supporting tumor suppressor role
PMID: 12375017
4
Anti-RPH3AL autoantibodies prevalent in colorectal cancer patients with diagnostic potential
PMID: 21536019
5
RPH3AL methylation differences associated with male infertility in peripheral blood
PMID: 31103287
6
RPH3AL differentially methylated in aortic aneurysm and atherosclerosis pathology
PMID: 39707852
Disease Associationsⓘ20
ovarian neoplasmOpen Targets
0.32Weak
poisoningOpen Targets
0.32Weak
preeclampsiaOpen Targets
0.26Weak
idiopathic aplastic anemiaOpen Targets
0.25Weak
PancytopeniaOpen Targets
0.25Weak
malignant renal pelvis neoplasmOpen Targets
0.23Weak
glomerulonephritisOpen Targets
0.23Weak
alcohol drinkingOpen Targets
0.22Weak
primary ovarian insufficiencyOpen Targets
0.12Weak
MODYOpen Targets
0.08Suggestive
type 1 diabetes mellitusOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.06Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.05Suggestive
maturity-onset diabetes of the young type 4Open Targets
0.05Suggestive
maturity-onset diabetes of the young type 10Open Targets
0.05Suggestive
diabetes mellitus, transient neonatal, 2Open Targets
0.05Suggestive
exercise-induced hyperinsulinismOpen Targets
0.05Suggestive
maturity-onset diabetes of the young type 2Open Targets
0.05Suggestive
maturity-onset diabetes of the young type 6Open Targets
0.05Suggestive
chronic pancreatitisOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RAB3AProtein interaction91%WTIPProtein interaction91%RAB27AProtein interaction89%DOC2AProtein interaction76%LIMD1Protein interaction74%AJUBAProtein interaction74%
Tissue Expression6 tissues
Liver
100%
Lung
47%
Ovary
47%
Heart
18%
Bone Marrow
7%
Brain
4%
Gene Interaction Network
Click a node to explore
RPH3ALRAB3AWTIPRAB27ADOC2ALIMD1AJUBA
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9UNE2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.21LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.92 [0.71–1.21]
RankingsWhere RPH3AL stands among ~20K protein-coding genes
  • #11,790of 20,598
    Most Researched31
  • #12,712of 17,882
    Most Constrained (LOEUF)1.21
Genes detectedRPH3AL
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Clinical Implications of Rabphillin-3A-Like Gene Alterations in Breast Cancer.
PMID: 26070152
PLoS One · 2015
1.00
2
Detection of autoantibodies against Rabphilin-3A-like protein as a potential biomarker in patient's sera of colorectal cancer.
PMID: 21536019
Clin Chim Acta · 2011
0.90
3
Mutations of rabphillin-3A-like gene in colorectal cancers.
PMID: 12375017
Oncol Rep · 2002
0.80
4
Array-based DNA methylation profiling reveals peripheral blood differential methylation in male infertility.
PMID: 31103287
Fertil Steril · 2019
0.70
5
Borderline personality disorder and childhood maltreatment: a genome-wide methylation analysis.
PMID: 25612291
Genes Brain Behav · 2015
0.60