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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GCC2
GRIP and coiled-coil domain containing 2
Chromosome 2 · 2q12.3
NCBI Gene: 9648Ensembl: ENSG00000135968.22HGNC: HGNC:23218UniProt: A0A8I5QJB7
78PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
Golgi to plasma membrane protein transportprotein bindingtrans-Golgi networknucleoplasmcancerkidney diseaseProgressive sensorineural hearing impairmentnon-small cell lung carcinoma
✦AI Summary

GCC2 (GRIP and coiled-coil domain containing 2) is a trans-Golgi network (TGN) golgin that functions as a vesicle tether regulating intracellular transport 1. As a RAB9A effector, GCC2 mediates mannose 6-phosphate receptor (M6PR) recycling from late endosomes to the TGN and facilitates Golgi-endosome transport 2. GCC2 is essential for Golgi structural integrity and recruits microtubule-organizing proteins to maintain noncentrosomal Golgi-associated microtubules 1. Recently, GCC2 was identified on lytic granule surfaces in cytotoxic immune cells, where it tethers granules to the Golgi following convergence at the MTOC, preventing off-target killing 3. Clinically, GCC2 variants cause human natural killer cell deficiency associated with impaired immune precision 3. In non-small cell lung cancer (NSCLC), GCC2 is aberrantly overexpressed and promotes progression by maintaining Golgi integrity and enhancing EGFR signaling 1. Exosomal GCC2 serves as an early diagnostic biomarker for NSCLC with 90% sensitivity and 75% specificity 4. Additionally, GCC2 participates in oncogenic fusion proteins (GCC2-PDGFRB, GCC2-ALK) associated with hematologic and lung malignancies responsive to targeted inhibitors [PMID:30697976; 52]. GCC2 regulation also influences TGF-β1 signaling in transplant immunology, affecting kidney allograft outcomes 6.

Sources cited
1
GCC2 is a TGN golgin maintaining Golgi structure and promoting NSCLC progression via EGFR signaling
PMID: 39572606
2
GCC2 mediates M6PR-dependent Golgi-endosome transport and facilitates endosomal release of therapeutic molecules
PMID: 31840180
3
GCC2 on lytic granule surfaces tethers granules to Golgi for precision cytotoxicity; GCC2 variants cause NK cell deficiency
PMID: 39813120
4
Exosomal GCC2 is a diagnostic biomarker for NSCLC with 90% sensitivity and 75% specificity
PMID: 34771645
5
GCC2-PDGFRB fusion gene identified in chronic eosinophilic leukemia
PMID: 30697976
6
GCC2-ALK fusion protein promotes lung adenocarcinoma and responds to ALK inhibitors
PMID: 29290262
7
GCC2 eQTLs modulate TGF-β1 signaling affecting kidney allograft outcomes
PMID: 37676733
Disease Associationsⓘ20
cancerOpen Targets
0.48Moderate
kidney diseaseOpen Targets
0.25Weak
Progressive sensorineural hearing impairmentOpen Targets
0.11Weak
non-small cell lung carcinomaOpen Targets
0.09Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
lung cancerOpen Targets
0.07Suggestive
HirsutismOpen Targets
0.07Suggestive
idiopathic membranous glomerulonephritisOpen Targets
0.07Suggestive
Morvan syndromeOpen Targets
0.07Suggestive
C1 inhibitor deficiencyOpen Targets
0.07Suggestive
autoimmune diseaseOpen Targets
0.07Suggestive
immune system diseaseOpen Targets
0.07Suggestive
type II hypersensitivity reaction diseaseOpen Targets
0.07Suggestive
preeclampsiaOpen Targets
0.06Suggestive
Hashimoto's thyroiditisOpen Targets
0.06Suggestive
pemphigus vulgarisOpen Targets
0.05Suggestive
Autosomal recessive systemic lupus erythematosusOpen Targets
0.05Suggestive
autosomal systemic lupus erythematosus type 16Open Targets
0.05Suggestive
neoplasmOpen Targets
0.04Suggestive
Immunodeficiency due to a late component of complements deficiencyOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
VTI1AProtein interaction100%RHOBTB3Protein interaction98%CLASP2Protein interaction96%CLASP1Protein interaction96%CLASRPProtein interaction95%RANBP2Protein interaction95%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
98%
Ovary
87%
Heart
67%
Lung
65%
Liver
55%
Gene Interaction Network
Click a node to explore
GCC2VTI1ARHOBTB3CLASP2CLASP1CLASRPRANBP2
PROTEIN STRUCTURE
Preparing viewer…
PDB3BBP · 3.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.63LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.50 [0.41–0.63]
RankingsWhere GCC2 stands among ~20K protein-coding genes
  • #6,071of 20,598
    Most Researched78
  • #4,407of 17,882
    Most Constrained (LOEUF)0.63 · top quartile
Genes detectedGCC2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
RANBP2 evolution and human disease.
PMID: 37795679
FEBS Lett · 2023
1.00
2
The Golgi complex governs natural killer cell lytic granule positioning to promote directionality in cytotoxicity.
PMID: 39813120
Cell Rep · 2025
0.90
3
A novel fusion gene involving PDGFRB and GCC2 in a chronic eosinophilic leukemia patient harboring t(2;5)(q37;q31).
PMID: 30697976
Mol Genet Genomic Med · 2019
0.80
4
Golgi-endosome transport mediated by M6PR facilitates release of antisense oligonucleotides from endosomes.
PMID: 31840180
Nucleic Acids Res · 2020
0.70
5
Multiscale genetic architecture of donor-recipient differences reveals intronic LIMS1 mismatches associated with kidney transplant survival.
PMID: 37676733
J Clin Invest · 2023
0.60