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RAB14

Chr 9q33.2

RAB14, member RAS oncogene family

Aliases:
FBP, RAB-14
MANE:
ENST00000373840.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • neurodegenerative disease

    0.52
  • alcohol drinking

    0.27
  • Abnormality of the skeletal system

    0.27
  • neurodevelopmental disorder

    0.19
  • gastric cancer

    0.09
  • breast cancer

    0.08
  • bladder transitional cell carcinoma

    0.07
  • response to vaccine

    0.07
  • nonpapillary renal cell carcinoma

    0.06
  • breast carcinoma

    0.06

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

Protein function (UniProt)

Ras-related protein Rab-14

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 set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (PubMed:22595670). RAB14 is involved in membrane trafficking between the Golgi complex and endosomes during early embryonic development (By similarity). Regulates the Golgi to endosome transport of FGFR-containing vesicles during early development, a key process for developing basement membrane and epiblast and primitive endoderm lineages during early postimplantation development. May act by modulating the kinesin KIF16B-cargo association to endosomes (By similarity). Regulates, together with its guanine nucleotide exchange factor DENND6A, the specific endocytic transport of ADAM10, N-cadherin/CDH2 shedding and cell-cell adhesion (PubMed:22595670). Mediates endosomal tethering and fusion through the interaction with RUFY1 and RAB4B (PubMed:20534812). Interaction with RAB11FIP1 may function in the process of neurite formation (PubMed:26032412)

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.