RAB5B

Chr 12q13.2

RAB5B, member RAS oncogene family

MANE:: ENST00000360299.10

OMIM: 179514 ↗NCBI: 5869 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

RAB5B · P61020

v62025-08-01

Predicted Aligned Error matrix for RAB5B — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.8/ 100

Confident

215 residues

Confidence breakdown

Very high(≥ 90)72%
Confident(70–90)7%
Low(50–70)11%
Very low(< 50)10%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Childhood interstitial lung disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

neurodegenerative disease
0.32
hypothyroidism
0.28
type 1 diabetes mellitus
0.27
gastroesophageal reflux disease
0.27
rheumatoid arthritis
0.27
smoking cessation
0.27
childhood onset asthma
0.25
asthma
0.24
atopic eczema
0.23
sinusitis
0.21

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

Protein function (UniProt)

Ras-related protein Rab-5B

The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (PubMed:16086013, PubMed:17562788). Involved in early endocytic trafficking (PubMed:16086013, PubMed:17562788). Required for EEA1 recruitment to early endosomes (PubMed:16086013, PubMed:17562788). Required for EGF and transferrin endocytosis and trafficking through early endosomes (PubMed:16086013, PubMed:17562788)