CCDC102A: Coiled-Coil Domain Containing 102A
A gene encoding a coiled-coil domain-containing protein with potential roles in cellular structure and signaling.
Gene Information Card
| Symbol | CCDC102A |
|---|---|
| Full Name | Coiled-Coil Domain Containing 102A |
| Gene Type | Protein coding |
| Chromosomal Location | 16q24.1 |
| NCBI Gene ID | 120434 ncbi.nlm.nih.gov/gene/120434 |
| Ensembl ID | ENSG00000140937 |
| UniProt ID | Q96A19 |
| OMIM ID | 618349 |
| HGNC ID | 28369 |
| Aliases | FLJ11273, MGC131831 |
Description
CCDC102A (Coiled-Coil Domain Containing 102A) is a protein-coding gene located on chromosome 16q24.1. The encoded protein contains a coiled-coil domain, which is often involved in mediating protein-protein interactions, structural organization, and signaling. The precise biological function of CCDC102A is not fully characterized, but it is predicted to play a role in cellular architecture and possibly in ciliary or centrosomal processes. Expression data suggest broad tissue distribution with highest levels in testis and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No evidence in OMIM, ClinVar, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 5.1 | Low |
| Liver | 3.2 | Not detected |
| Kidney | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Moderate expression |
| HeLa | 6.8 | Low expression |
| K562 | 3.5 | Low expression |
| HepG2 | 2.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) |
Pathways
• No curated pathways
Protein Summary
The CCDC102A protein (UniProt Q96A19) is 612 amino acids long and contains a coiled-coil domain. Coiled-coil domains are alpha-helical structures that mediate oligomerization and protein interactions. The protein is predicted to be localized in the cytoplasm and nucleus. Its exact function remains unknown, but it may be involved in cytoskeletal organization or cell division. No disease-associated mutations have been reported in ClinVar or COSMIC.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC102A Knockout HEK293 Cell Line | EDJ-KQ11111 | Human | 92922 | Details Get a Quote |
| CCDC102A Knockout A-549 Cell Line | EDJ-KQ39081 | Human | 92922 | Details Get a Quote |
| CCDC102A Knockout HCT 116 Cell Line | EDJ-KQ39082 | Human | 92922 | Details Get a Quote |
| CCDC102A Knockout HeLa Cell Line | EDJ-KQ39083 | Human | 92922 | Details Get a Quote |
