CACFD1 Gene - Calcium Channel Flower Domain Containing 1
Comprehensive genomic and functional analysis of CACFD1
Gene Information Card
| Symbol | CACFD1 |
|---|---|
| Full Name | Calcium Channel Flower Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q33.1 |
| NCBI Gene ID | 11091 ncbi.nlm.nih.gov/gene/11091 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q9Y6Q1 |
| OMIM ID | 608874 |
| HGNC ID | 1361 |
| Aliases | FLJ20035, MGC138290, dJ366L4.1 |
Description
CACFD1 (Calcium Channel Flower Domain Containing 1) is a protein-coding gene located on chromosome 2q33.1. The encoded protein contains a flower domain, which is implicated in calcium channel regulation and cellular signaling. Its exact biological function remains under investigation, but it is thought to play a role in ion transport and membrane excitability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.8 | Low |
| Brain | 3.2 | Low |
| Heart | 2.1 | Low |
| Liver | 1.5 | Not detected |
| Kidney | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 2.4 | Low expression |
| HeLa | 1.9 | Low expression |
| K562 | 1.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.100C>T | Synonymous | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No confirmed dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • plasma membrane (GO:0005886) |
| • ion transport (GO:0006811) |
Pathways
• No curated pathways
Protein Summary
The CACFD1 protein is a 245-amino acid polypeptide with a flower domain, predicted to localize to the plasma membrane. It may participate in calcium channel activity or modulation, though experimental validation is limited. Structural predictions suggest transmembrane helices.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CACFD1 Knockout HEK293 Cell Line | EDJ-KQ7281 | Human | 11094 | Details Get a Quote |
| CACFD1 Knockout A-549 Cell Line | EDJ-KQ30931 | Human | 11094 | Details Get a Quote |
| CACFD1 Knockout HCT 116 Cell Line | EDJ-KQ32309 | Human | 11094 | Details Get a Quote |
| CACFD1 Knockout HeLa Cell Line | EDJ-KQ32310 | Human | 11094 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
