EFCAB7
EF-Hand Calcium Binding Domain 7
Gene Information Card
| Symbol | EFCAB7 |
|---|---|
| Full Name | EF-Hand Calcium Binding Domain 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 84455 ncbi.nlm.nih.gov/gene/84455 |
| Ensembl ID | ENSG00000162613 |
| UniProt ID | Q8N7X1 |
| OMIM ID | 617347 |
| HGNC ID | 28978 |
| Aliases | FLJ22662, MGC131831 |
Description
EFCAB7 is a protein-coding gene that encodes a member of the EF-hand calcium-binding protein family. The protein contains two EF-hand domains and is involved in calcium-dependent signaling. It is expressed in various tissues and may play a role in cellular calcium homeostasis. Limited functional characterization is available.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.8 | Medium |
| Brain | 6.2 | Low |
| Heart | 5.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 7.5 | Moderate expression |
| HeLa | 6.1 | Low expression |
| K562 | 5.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.412G>A (p.Gly138Arg) | Missense | <0.01% | Unknown functional effect |
| c.625C>T (p.Arg209Trp) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
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 ion binding | • EF-hand domain |
| • cytoplasm | • nucleus |
Pathways
• Calcium signaling pathway (inferred)
Protein Summary
EFCAB7 is a 262-amino acid protein with two EF-hand calcium-binding motifs. It is predicted to localize to the cytoplasm and nucleus. The protein may modulate calcium-dependent processes, but its precise biological function remains largely unknown.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EFCAB7 Knockout HEK293 Cell Line | EDJ-KQ892 | Human | 84455 | Details Get a Quote |
| EFCAB7 Knockout HeLa Cell Line | EDJ-KQ18389 | Human | 84455 | Details Get a Quote |
| EFCAB7 Knockout A-549 Cell Line | EDJ-KQ19731 | Human | 84455 | Details Get a Quote |
| EFCAB7 Knockout HCT 116 Cell Line | EDJ-KQ19732 | Human | 84455 | Details Get a Quote |
