EFCAB11
EF-hand calcium binding domain 11
Gene Information Card
| Symbol | EFCAB11 |
|---|---|
| Full Name | EF-hand calcium binding domain 11 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q32.12 |
| NCBI Gene ID | 100132929 ncbi.nlm.nih.gov/gene/100132929 |
| Ensembl ID | ENSG00000205542 |
| UniProt ID | Q5T0N5 |
| OMIM ID | - |
| HGNC ID | HGNC:37210 |
| Aliases | FLJ46321, MGC163263 |
Description
EFCAB11 (EF-hand calcium binding domain 11) is a protein-coding gene that encodes a protein containing EF-hand domains, which are typically involved in calcium binding. The gene is located on chromosome 14q32.12. Its specific biological functions are not fully characterized, but EF-hand proteins often participate in calcium signaling pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations currently documented | - | - |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Heart | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.0 | Not detected |
| HEK 293 | 0.0 | Not detected |
| K562 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No documented mutations in COSMIC or ClinVar | - | - | - |
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 EFCAB11 protein contains EF-hand domains, suggesting a role in calcium binding. However, its specific cellular functions and interactions remain largely unknown. No disease associations or functional studies are currently documented in major databases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EFCAB11 Knockout HEK293 Cell Line | EDJ-KQ10564 | Human | 90141 | Details Get a Quote |
| EFCAB11 Knockout A-549 Cell Line | EDJ-KQ38021 | Human | 90141 | Details Get a Quote |
| EFCAB11 Knockout HCT 116 Cell Line | EDJ-KQ38022 | Human | 90141 | Details Get a Quote |
| EFCAB11 Knockout HeLa Cell Line | EDJ-KQ38023 | Human | 90141 | Details Get a Quote |
