CCDC62 (Coiled-Coil Domain Containing 62)
A gene encoding a coiled-coil domain-containing protein implicated in cancer and spermatogenesis.
Gene Information Card
| Symbol | CCDC62 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 62 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 84660 ncbi.nlm.nih.gov/gene/84660 |
| Ensembl ID | ENSG00000139618 |
| UniProt ID | Q6P9F0 |
| OMIM ID | 613481 |
| HGNC ID | 26523 |
| Aliases | FLJ32709, MGC138499, dJ1181N3.1 |
Description
CCDC62 encodes a protein containing coiled-coil domains, which are structural motifs involved in protein-protein interactions. The protein is expressed in multiple tissues and has been linked to spermatogenesis and cancer progression. It may act as a coactivator for nuclear receptors and is implicated in the development of certain tumors, including prostate and breast cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | CCDC62 overexpression may enhance androgen receptor signaling, promoting tumor growth. | PMID: 21804562 |
| Breast cancer | CCDC62 amplification and overexpression correlate with poor prognosis and may influence estrogen receptor activity. | PMID: 22952331 |
| Spermatogenic failure | CCDC62 variants have been associated with male infertility due to defective sperm formation. | PMID: 24139946 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Prostate | 8.2 | Medium |
| Breast | 6.1 | Low |
| Brain | 3.4 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| LNCaP (prostate cancer) | 15.3 | Androgen-responsive cell line |
| MCF-7 (breast cancer) | 9.8 | Estrogen-responsive cell line |
| HEK293 (embryonic kidney) | 4.5 | Commonly used for overexpression studies |
| HeLa (cervical cancer) | 3.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown; reported in cancer samples (COSMIC) |
| c.1282G>A (p.Glu428Lys) | Missense | <0.01% | Unknown; reported in cancer samples (COSMIC) |
| c.1465_1466insA (p.Thr489Asnfs*2) | Frameshift | <0.01% | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1465_1466insA) are predicted to truncate the protein, likely impairing its coactivator function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) | • identical protein binding (GO:0042802) |
| • transcription coactivator activity (GO:0003713) |
Pathways
• Androgen receptor signaling pathway
• Estrogen receptor signaling pathway
• Nuclear receptor transcription pathway
Protein Summary
The CCDC62 protein (UniProt Q6P9F0) is 746 amino acids long and contains coiled-coil domains that mediate protein-protein interactions. It localizes to the nucleus and cytoplasm and functions as a transcriptional coactivator for nuclear receptors such as androgen and estrogen receptors. The protein is expressed in testis, prostate, and breast tissues, and its dysregulation is associated with cancer and male infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC62 Knockout HEK293 Cell Line | EDJ-KQ10155 | Human | 84660 | Details Get a Quote |
| CCDC62 Knockout HCT 116 Cell Line | EDJ-KQ37259 | Human | 84660 | Details Get a Quote |
| CCDC62 Knockout HeLa Cell Line | EDJ-KQ57636 | Human | 84660 | Details Get a Quote |
| CCDC62 Knockout A-549 Cell Line | EDJ-KQ66133 | Human | 84660 | Details Get a Quote |
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