RBSN

Chr 3p25.1

rabenosyn, RAB effector

MANE:: ENST00000253699.7

OMIM: 609511 ↗NCBI: 64145 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

RBSN · Q9H1K0

v62025-08-01

Predicted Aligned Error matrix for RBSN — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

67.9/ 100

Low

784 residues

Confidence breakdown

Very high(≥ 90)27%
Confident(70–90)29%
Low(50–70)9%
Very low(< 50)36%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Kariminejad neurodevelopmental syndrome
0.52
myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities
0.45
Genu varum
0.22
benign chondrogenic neoplasm
0.22
Genu valgum
0.22
hypertrophic cardiomyopathy
0.22
phimosis
0.08
paraphimosis
0.08
non-small cell lung carcinoma
0.06
lung carcinoma
0.04

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Rabenosyn-5

Rab4/Rab5 effector protein acting in early endocytic membrane fusion and membrane trafficking of recycling endosomes. Required for endosome fusion either homotypically or with clathrin coated vesicles. Plays a role in the lysosomal trafficking of CTSD/cathepsin D from the Golgi to lysosomes. Also promotes the recycling of transferrin directly from early endosomes to the plasma membrane. Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate (PtdInsP3) (PubMed:11062261, PubMed:11788822, PubMed:15020713). Plays a role in the recycling of transferrin receptor to the plasma membrane (PubMed:22308388)