CACNA1F
Calcium Voltage-Gated Channel Subunit Alpha1 F
Gene Information Card
| Symbol | CACNA1F |
|---|---|
| Full Name | Calcium Voltage-Gated Channel Subunit Alpha1 F |
| Gene Type | protein-coding |
| Chromosomal Location | Xp11.23 |
| NCBI Gene ID | 778 ncbi.nlm.nih.gov/gene/778 |
| Ensembl ID | ENSG00000102001 |
| UniProt ID | O60840 |
| OMIM ID | 300110 |
| HGNC ID | 1393 |
| Aliases | CACNAF, Cav1.4, CSNB2, CSNB2A, JMC8, AIED |
Description
The CACNA1F gene encodes the alpha-1F subunit of a voltage-gated calcium channel (Cav1.4). This channel is primarily expressed in retinal photoreceptors and plays a critical role in synaptic transmission from photoreceptors to bipolar cells. Mutations in CACNA1F are associated with X-linked congenital stationary night blindness type 2 (CSNB2) and other retinal disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked congenital stationary night blindness type 2 (CSNB2) | Loss-of-function mutations in CACNA1F disrupt calcium influx in photoreceptor synaptic terminals, impairing neurotransmitter release and causing night blindness. | ClinVar, OMIM |
| Aland Island eye disease (AIED) | Missense mutations in CACNA1F reduce channel activity, leading to retinal dysfunction with nystagmus and reduced visual acuity. | OMIM |
| X-linked cone-rod dystrophy | Rare CACNA1F variants may alter calcium signaling in cone photoreceptors, contributing to progressive vision loss. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | High | Tissue-specific |
| Brain | Low | Non-specific |
| Testis | Low | Non-specific |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | Not expressed | No detectable nTPM |
| Y79 (retinoblastoma) | Moderate | RNA-seq data |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.238C>T (p.Arg80*) | Nonsense | Rare | Loss of function; truncation of channel protein |
| c.481G>A (p.Gly161Arg) | Missense | Rare | Loss of function; impaired channel gating |
| c.3457C>T (p.Arg1153Trp) | Missense | Rare | Loss of function; reduced calcium current |
Mutation functional classification
Loss of Function (LOF)
Most CACNA1F mutations are loss-of-function, leading to reduced or absent calcium channel activity in retinal photoreceptors.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not applicable; CACNA1F is X-linked and recessive.
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated calcium channel activity | • calcium ion transmembrane transport |
| • membrane depolarization | • photoreceptor cell synaptic transmission |
| • visual perception |
Pathways
• Voltage-gated calcium channels
• Retinal signaling pathway
Protein Summary
The CACNA1F protein (Cav1.4) is a pore-forming alpha-1 subunit of an L-type voltage-gated calcium channel. It is 1,966 amino acids long and contains four homologous domains (I-IV), each with six transmembrane segments. The channel mediates calcium influx in response to membrane depolarization, essential for neurotransmitter release at photoreceptor ribbon synapses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CACNA1F Knockout HEK293 Cell Line | EDJ-KQ618 | Human | 778 | Details Get a Quote |
| CACNA1F Knockout HeLa Cell Line | EDJ-KQ52773 | Human | 778 | Details Get a Quote |
| CACNA1F Knockout A-549 Cell Line | EDJ-KQ61240 | Human | 778 | Details Get a Quote |
| CACNA1F Knockout HCT 116 Cell Line | EDJ-KQ69739 | Human | 778 | Details Get a Quote |
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