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RAB34

Chr 17q11.2

RAB34, member RAS oncogene family

Aliases:
RAB39, RAH, NARR
MANE:
ENST00000395245.9

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • orofaciodigital syndrome 20

    0.61
  • Jeune syndrome

    0.34
  • orofaciodigital syndrome I

    0.19
  • orofaciodigital syndrome

    0.18
  • neurodegenerative disease

    0.18
  • central nervous system cancer

    0.09
  • glioma

    0.09
  • non-small cell lung carcinoma

    0.08
  • hereditary angioedema

    0.06
  • neoplasm

    0.06

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

Protein function (UniProt)

Ras-related protein Rab-34

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 (By similarity). RAB34 transports protein involved in the redistribution of lysosomes to the peri-Golgi region (PubMed:27113757). Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis (PubMed:21255211). Plays a role in the fusion of phagosomes with lysosomes (PubMed:21255211). Involved in ciliogenesis (PubMed:37384395). In particular, it is required for early steps of the intracellular cilium assembly pathway initiated by trafficking and docking of ciliary vesicles to the centrioles in the cytoplasm, followed by axoneme formation in the cytoplasm. After axoneme elongation, the centrioles migrate close to the cell surface so that ciliary vesicles can fuse with the plasma membrane to expose cilia to the extracellular space (By similarity). It seems dispensable for ciliogenesis via the extracellular pathway where cilium assembly begins after migration and docking of the centriole to the plasma membrane (By similarity). Also acts as a positive regulator of hedgehog signaling and regulates ciliary function (By similarity)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.