CCDC88A
Coiled-Coil Domain Containing 88A; Girdin
Gene Information Card
| Symbol | CCDC88A |
|---|---|
| Full Name | Coiled-Coil Domain Containing 88A |
| Gene Type | Protein coding |
| Chromosomal Location | 2p16.1 |
| NCBI Gene ID | 55704 ncbi.nlm.nih.gov/gene/55704 |
| Ensembl ID | ENSG00000115310 |
| UniProt ID | Q3V6T2 |
| OMIM ID | 609736 |
| HGNC ID | 25523 |
| Aliases | Girdin, APE, GIV, HkRP1 |
Description
CCDC88A encodes Girdin, a large coiled-coil protein that functions as an actin-binding protein and a scaffold in cell signaling. It is involved in cell migration, angiogenesis, and autophagy. Girdin interacts with G proteins and Akt, playing roles in cytoskeletal dynamics and tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Overexpression of Girdin enhances Akt signaling and cell migration, promoting metastasis. | PMID: 19029981 |
| Breast cancer | Girdin expression correlates with poor prognosis; promotes invasion via PI3K/Akt pathway. | PMID: 21502526 |
| Hepatocellular carcinoma | Upregulation of Girdin associated with tumor growth and metastasis. | PMID: 23034408 |
| Gastric cancer | Girdin overexpression linked to lymph node metastasis and poor survival. | PMID: 23708656 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.2 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.8 | Low |
| Lung | 7.4 | Low |
| Colon | 11.3 | Medium |
| Breast | 10.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| MCF7 | 12.8 | Breast cancer cell line |
| HepG2 | 9.5 | Hepatocellular carcinoma cell line |
| A549 | 11.0 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.1% | Unknown functional effect; reported in COSMIC |
| c.2567A>G (p.Asn856Ser) | Missense | <0.1% | Reported in cancer samples; significance unclear |
| c.3456_3457insA | Frameshift | <0.1% | Predicted loss of function; rare |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.3456_3457insA) likely cause loss of function by truncating the protein.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • GTPase activator activity |
| • protein kinase A binding | • cell migration |
| • cytoskeleton organization | • autophagy |
| • angiogenesis |
Pathways
• PI3K/Akt signaling pathway
• G protein-coupled receptor signaling
• Regulation of actin cytoskeleton
Protein Summary
Girdin is a 1871-amino acid protein containing an N-terminal actin-binding domain and a C-terminal coiled-coil region. It acts as a scaffold linking G proteins to Akt, regulating cell migration and survival. Girdin is overexpressed in multiple cancers and is implicated in tumor metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC88A Knockout HEK293 Cell Line | EDJ-KQ2314 | Human | 55704 | Details Get a Quote |
| CCDC88A Knockout A-549 Cell Line | EDJ-KQ22697 | Human | 55704 | Details Get a Quote |
| CCDC88A Knockout HCT 116 Cell Line | EDJ-KQ22698 | Human | 55704 | Details Get a Quote |
| CCDC88A Knockout HeLa Cell Line | EDJ-KQ22699 | Human | 55704 | Details Get a Quote |
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