Protein / target

Rabphilin-3A

Encoded byRPH3AQ9Y2J0Homo sapiensSwiss-Prot

UniProt: Q9Y2J0 Ensembl: ENSG00000089169 HGNC: HGNC:17056 NCBI Gene: 22895

Antibody-tractable

Druggability

UniProt loc med conf

Research papers

Protein at a glance

Biological role

Phosphatidylinositol-4,5-bisphosphate binding

Strongest disease association

Hypothyroidism

Via encoding gene RPH3A · Genetic evidence · score 0.63

Research activity

Emerging research

1 papers · latest 2023

Derived from structured UniProt, Open Targets and literature data on this page.

Protein profile

UniProt 2026_02

Canonical identity and biological annotation from UniProt.

Function overview

Plays an essential role in docking and fusion steps of regulated exocytosis.

View complete UniProt function annotation

Plays an essential role in docking and fusion steps of regulated exocytosis (By similarity). At the presynaptic level, RPH3A is recruited by RAB3A to the synaptic vesicle membrane in a GTP-dependent manner where it modulates synaptic vesicle trafficking and calcium-triggered neurotransmitter release (By similarity). In the post-synaptic compartment, forms a ternary complex with GRIN2A and DLG4 and regulates NMDA receptor stability. Also plays a role in the exocytosis of arginine vasopressin hormone (By similarity)

Subcellular location

Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membraneCell projection, dendritic spinePostsynaptic cell membraneMembrane

Domains and Gene Ontology detail (27)

Domains & features

RabBDC2 1C2 2

Gene Ontology

Cdendritic spine
Cextrinsic component of membrane
Cextrinsic component of synaptic vesicle membrane
Cneuron projection
Cpostsynaptic membrane
Cprotein-containing complex
Csecretory granule
Csynapse
Csynaptic vesicle
Csynaptic vesicle membrane
Fcalcium ion binding
Fcalcium-dependent phospholipid binding

694 aa · 77 kDa · 2 isoforms

Biological roles

What this protein does, drawn together from its UniProt function, Gene Ontology terms and Reactome pathways.

Synaptic signallingUniProt · GO

View supporting evidence

Synaptic signalling

·Plays an essential role in docking and fusion steps of regulated exocytosis (By similari…
·Postsynaptic cell membrane
·postsynaptic membrane
·synapse

Concepts derived from UniProt GO Reactome — each badge above shows which sources supported that role.

Translational evidence

Open Targets 26

Why this target matters therapeutically, strongest evidence first. Disease associations are gene-level (via the gene that encodes this protein) and open into the full confidence synthesis; the development universe, tractability and safety annotations are target-level, from Open Targets.

Strongest disease associations · via encoding gene RPH3A

Gene-level evidence surfaced through the gene RPH3Athat encodes this protein — not a direct protein–disease relationship. Ranked by Forefront's causal-directness weighting, so genetically- and clinically-evidenced diseases lead over ones that merely share the literature.

Hypothyroidism

0.63Moderately supported

Genetic evidence dominant · Open Targets 0.38

Coronary Artery Disease

0.61Moderately supported

Genetic evidence dominant · Open Targets 0.37

Thyroid Diseases

0.56Moderately supported

Genetic evidence dominant · Open Targets 0.34

Diabetes Mellitus, Type 1

0.55Moderately supported

Genetic evidence dominant · Open Targets 0.33

Myocardial Infarction

0.54Moderately supported

Genetic evidence dominant · Open Targets 0.33

View evidence synthesis (5)

HypothyroidismModerately supported

0.63

agreement 0.51–0.75

Genetic100%

Open Targets aggregate 0.38 · 1 independent evidence family

Coronary Artery DiseaseModerately supported

0.61

agreement 0.49–0.73

Genetic100%

Open Targets aggregate 0.37 · 1 independent evidence family

Thyroid DiseasesModerately supported

0.56

agreement 0.44–0.68

Genetic100%

Open Targets aggregate 0.34 · 1 independent evidence family

Diabetes Mellitus, Type 1Moderately supported

0.55

agreement 0.43–0.67

Genetic100%

Open Targets aggregate 0.33 · 1 independent evidence family

Myocardial InfarctionModerately supported

0.54

agreement 0.42–0.66

Genetic100%

Open Targets aggregate 0.33 · 1 independent evidence family

The evidence agreement range shows how closely the independent evidence families agree — it is not a statistical confidence interval, and nothing here is fitted to outcome data. Derived from Open Targets evidence types under Forefront weighting; the per-type scores above show the calculation.

Show all associations

Hypothyroidism0.38

Coronary Artery Disease0.37

Thyroid Diseases0.34

Diabetes Mellitus, Type 10.33

Myocardial Infarction0.33

Alcohol drinking0.33

Gout0.30

Alzheimer's Disease0.29

Ovarian neoplasm0.29

Tractability

Antibodies — Emerging

Feasibility evidence (uniprot loc med conf and go cc med conf) — no clinical-stage drug of this modality recorded.

Protein degraders — Emerging

Feasibility evidence (uniprot ubiquitination and half-life data) — no clinical-stage drug of this modality recorded.

View underlying tractability evidence (4)

AB · UniProt loc med confAB · GO CC med confPR · UniProt UbiquitinationPR · Half-life Data

Raw Open Targets tractability assessment buckets, by modality.

Research activity

1 papers · to 2023

Papers linked directly to this protein. This is the protein's own literature — descriptor-derived papers are kept separate below.

Most cited

Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.12 cites

Pavinato L · Genetics in medicine : official journal of the American College of Medical Genetics · 2023

Recent

Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.

Pavinato L · Genetics in medicine : official journal of the American College of Medical Genetics · 2023

Europe PMC papers linked directly to this protein.