C2CD2L Gene - C2CD2 Like
Comprehensive genomic and functional analysis of C2CD2L, a calcium-dependent lipid-binding protein gene.
Gene Information Card
| Symbol | C2CD2L |
|---|---|
| Full Name | C2CD2 Like |
| Gene Type | protein-coding |
| Chromosomal Location | 11q23.3 |
| NCBI Gene ID | 9854 ncbi.nlm.nih.gov/gene/9854 |
| Ensembl ID | ENSG00000149257 |
| UniProt ID | Q9H8L6 |
| OMIM ID | 611499 |
| HGNC ID | 24567 |
| Aliases | C2CD2L, FLJ20489, MGC138290 |
Description
C2CD2L (C2CD2 Like) is a protein-coding gene located on chromosome 11q23.3. The encoded protein contains a C2 domain, which is often involved in calcium-dependent phospholipid binding. C2CD2L is implicated in cellular signaling and membrane trafficking processes. Its expression is observed in various tissues, with notable levels in the brain and endocrine organs.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetes Mellitus, Type 2 | Potential role in insulin secretion via calcium signaling | GWAS association (PMID: 24509480) |
| Obesity | Linked to metabolic regulation | GWAS association (PMID: 25673413) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Pancreas | 8.3 | Low |
| Testis | 6.7 | Low |
| Thyroid | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 10.2 | Neuronal cell line |
| HeLa | 4.5 | Cervical cancer cell line |
| HEK293 | 3.8 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045G>A (p.Gly349Arg) | Missense | <0.01% | Unknown |
| c.1523C>T (p.Pro508Leu) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
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)
| • calcium-dependent phospholipid binding (GO:0005544) | • endoplasmic reticulum (GO:0005783) |
| • Golgi apparatus (GO:0005794) | • membrane (GO:0016020) |
Pathways
• Calcium signaling pathway (Reactome: R-HSA-9006925)
Protein Summary
The C2CD2L protein (UniProt Q9H8L6) is 508 amino acids long and contains a C2 domain that mediates calcium-dependent phospholipid binding. It is localized to the endoplasmic reticulum and Golgi apparatus, suggesting a role in membrane trafficking and calcium-regulated signaling. Expression data indicate enrichment in brain and endocrine tissues, consistent with potential involvement in neuronal and metabolic processes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C2CD2L Knockout HEK293 Cell Line | EDJ-KQ6782 | Human | 9854 | Details Get a Quote |
| C2CD2L Knockout A-549 Cell Line | EDJ-KQ29892 | Human | 9854 | Details Get a Quote |
| C2CD2L Knockout HCT 116 Cell Line | EDJ-KQ31248 | Human | 9854 | Details Get a Quote |
| C2CD2L Knockout HeLa Cell Line | EDJ-KQ31249 | Human | 9854 | Details Get a Quote |
