C2CD4D Gene
C2CD4D: C2 Calcium-Dependent Domain Containing 4D
Gene Information Card
| Symbol | C2CD4D |
|---|---|
| Full Name | C2 calcium-dependent domain containing 4D |
| Gene Type | protein-coding |
| Chromosomal Location | 1q25.3 |
| NCBI Gene ID | 100129924 ncbi.nlm.nih.gov/gene/100129924 |
| Ensembl ID | ENSG00000204176 |
| UniProt ID | Q6P3W5 |
| OMIM ID | 615943 |
| HGNC ID | 33750 |
| Aliases | C2orf86, FAM148D |
Description
C2CD4D (C2 calcium-dependent domain containing 4D) is a protein-coding gene located on chromosome 1q25.3. It encodes a protein containing a C2 domain, which is often involved in calcium-dependent phospholipid binding and membrane targeting. The specific biological function of C2CD4D is not fully characterized, but it is predicted to play a role in cellular signaling or vesicle trafficking.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations currently curated | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.3 | Low |
| Thyroid | 0.2 | Low |
| Adipose tissue | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.1 | Low expression |
| K562 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | Not applicable | Not applicable | Not applicable |
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：
Protein Summary
The C2CD4D protein contains a C2 domain, a conserved motif that typically mediates calcium-dependent phospholipid binding. The full functional role of this protein remains to be elucidated, but it may be involved in membrane-associated processes such as signal transduction or vesicle fusion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C2CD4D Knockout HEK293 Cell Line | EDJ-KQ12603 | Human | 100191040 | Details Get a Quote |
| C2CD4D Knockout HeLa Cell Line | EDJ-KQ60850 | Human | 100191040 | Details Get a Quote |
| C2CD4D Knockout A-549 Cell Line | EDJ-KQ69323 | Human | 100191040 | Details Get a Quote |
| C2CD4D Knockout HCT 116 Cell Line | EDJ-KQ77677 | Human | 100191040 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
