CCDC92B Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the CCDC92B gene, including its genomic location, expression patterns, and potential disease associations.
Gene Information Card
| Symbol | CCDC92B |
|---|---|
| Full Name | coiled-coil domain containing 92B |
| Gene Type | protein-coding |
| Chromosomal Location | 5q35.3 |
| NCBI Gene ID | 100287596 ncbi.nlm.nih.gov/gene/100287596 |
| Ensembl ID | ENSG00000255330 |
| UniProt ID | A6NMK7 |
| OMIM ID | Not available |
| HGNC ID | HGNC:37225 |
| Aliases | FLJ46257, MGC16169 |
Description
CCDC92B is a protein-coding gene located on the long arm of chromosome 5 (5q35.3). It encodes a protein containing a coiled-coil domain, which is often involved in protein-protein interactions. The gene is expressed in various tissues, with notable levels in the thyroid, adrenal gland, and bone marrow. Its exact biological function is not fully characterized, but it may play a role in cellular processes such as vesicle trafficking or cytoskeletal organization. No direct disease associations have been firmly established, but expression data suggest potential involvement in endocrine or hematopoietic systems.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No curated disease links in OMIM or ClinVar as of current data. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Thyroid | 12.3 | Medium |
| Adrenal gland | 10.8 | Medium |
| Bone marrow | 9.5 | Low |
| Lung | 7.2 | Low |
| Testis | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 8.4 | Chronic myelogenous leukemia cell line |
| HeLa | 5.2 | Cervical adenocarcinoma cell line |
| A549 | 4.1 | Lung carcinoma cell line |
| HepG2 | 3.8 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants | Not available | Not available | No clinically significant variants reported in ClinVar or COSMIC. |
Mutation functional classification
Loss of Function (LOF)
No data available; no loss-of-function mutations have been characterized.
Gain of Function (GOF)
No data available; no gain-of-function mutations have been reported.
Dominant Negative (DN)
No data available; no dominant-negative effects described.
View complete mutation data：
Gene Ontology (GO)
| • Molecular function: Not yet annotated | • Biological process: Not yet annotated |
| • Cellular component: Not yet annotated |
Protein Summary
The CCDC92B protein is predicted to contain coiled-coil domains, which are structural motifs that facilitate protein-protein interactions. It may be involved in cellular scaffolding or signaling complexes. However, experimental validation is limited, and the protein's exact function remains to be elucidated. Its expression in endocrine and hematopoietic tissues hints at a possible role in hormone secretion or immune cell function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC92B Knockout HEK293 Cell Line | EDJ-KQ12772 | Human | 101928991 | Details Get a Quote |
| CCDC92B Knockout A-549 Cell Line | EDJ-KQ40638 | Human | 101928991 | Details Get a Quote |
| CCDC92B Knockout HCT 116 Cell Line | EDJ-KQ41903 | Human | 101928991 | Details Get a Quote |
| CCDC92B Knockout HeLa Cell Line | EDJ-KQ41904 | Human | 101928991 | Details Get a Quote |
