GCC2: GRIP and Coiled-Coil Domain Containing 2
A key regulator of Golgi apparatus structure and vesicle tethering, implicated in cancer and neurological disorders.
Gene Information Card
| Symbol | GCC2 |
|---|---|
| Full Name | GRIP and coiled-coil domain containing 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q12.3 |
| NCBI Gene ID | 9648 ncbi.nlm.nih.gov/gene/9648 |
| Ensembl ID | ENSG00000115966 |
| UniProt ID | Q8IWJ2 |
| OMIM ID | 614718 |
| HGNC ID | 23218 |
| Aliases | GCC185, KIAA0336, RANBP2L1 |
Description
GCC2 (GRIP and coiled-coil domain containing 2) encodes a peripheral membrane protein that localizes to the trans-Golgi network (TGN). It functions as a tethering factor for endosome-to-Golgi transport, maintaining Golgi ribbon integrity and facilitating vesicle docking via its GRIP domain. The protein interacts with RAB6 and other Golgi-associated factors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression and altered localization of GCC2 may disrupt Golgi structure and promote cell migration. | COSMIC; PMID: 25691885 |
| Colorectal cancer | GCC2 mutations and copy number alterations observed in tumor samples. | COSMIC; PMID: 22810696 |
| Neurodevelopmental disorder | Homozygous loss-of-function variants in GCC2 associated with intellectual disability and microcephaly. | ClinVar; PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
| Thyroid | 11.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical cancer cell line |
| HEK 293 | 10.8 | Embryonic kidney cell line |
| MCF7 | 9.5 | Breast cancer cell line |
| HepG2 | 7.3 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.214C>T (p.Arg72Trp) | Missense | <0.01% | Unknown; predicted damaging by SIFT |
| c.1027_1028del (p.Leu343fs) | Frameshift | <0.01% | Loss of function; associated with neurodevelopmental disorder |
| c.1567G>A (p.Glu523Lys) | Missense | 0.02% | Unknown; observed in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants lead to truncated protein, disrupting Golgi tethering and causing cellular trafficking defects.
Gain of Function (GOF)
Not reported for GCC2.
Dominant Negative (DN)
Not reported for GCC2.
View complete mutation data：
Gene Ontology (GO)
| • Golgi apparatus | • trans-Golgi network |
| • protein transport | • vesicle tethering |
| • GTPase binding | • GRIP domain |
Pathways
• Endosome-to-Golgi transport
• Golgi ribbon formation
• RAB6-mediated vesicle trafficking
Protein Summary
GCC2 is a 185 kDa coiled-coil protein anchored to the TGN via its GRIP domain. It forms homodimers and interacts with RAB6, GMAP-210, and other Golgi matrix proteins to tether transport vesicles. Its loss leads to Golgi fragmentation and impaired retrograde trafficking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GCC2 Knockout HEK293 Cell Line | EDJ-KQ6675 | Human | 9648 | Details Get a Quote |
| GCC2 Knockout A-549 Cell Line | EDJ-KQ30995 | Human | 9648 | Details Get a Quote |
| GCC2 Knockout HCT 116 Cell Line | EDJ-KQ30996 | Human | 9648 | Details Get a Quote |
| GCC2 Knockout HeLa Cell Line | EDJ-KQ30997 | Human | 9648 | Details Get a Quote |
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