Skip to content
GenoLensGenoLens

GCC2

Chr 2q12.3

GRIP and coiled-coil domain containing 2

Aliases:
GCC185, KIAA0336
MANE:
ENST00000309863.11

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • cancer

    0.48
  • kidney disorder

    0.27
  • immune system disorder

    0.18
  • Immunodeficiency

    0.18
  • immunodeficiency disease

    0.18
  • Progressive sensorineural hearing impairment

    0.11
  • Hirsutism

    0.09
  • non-small cell lung carcinoma

    0.09
  • lung cancer

    0.08
  • lung carcinoma

    0.08

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

Protein function (UniProt)

GRIP and coiled-coil domain-containing protein 2

Golgin which probably tethers transport vesicles to the trans-Golgi network (TGN) and regulates vesicular transport between the endosomes and the Golgi. As a RAB9A effector it is involved in recycling of the mannose 6-phosphate receptor from the late endosomes to the TGN. May also play a role in transport between the recycling endosomes and the Golgi. Required for maintenance of the Golgi structure, it is involved in the biogenesis of noncentrosomal, Golgi-associated microtubules through recruitment of CLASP1 and CLASP2

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.