About   Help   FAQ
Cacna1f Gene Detail
Summary
  • Symbol
    Cacna1f
  • Name
    calcium channel, voltage-dependent, alpha 1F subunit
  • Synonyms
    Cav1.4, Sfc17
  • Feature Type
    protein coding gene
  • IDs
    MGI:1859639
    NCBI Gene: 54652
  • Alliance
    genome feature page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:7473342-7501435 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 3.42 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    546 from dbSNP Build 142
  • Strain Annotations
    27
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1859639
 protein coding gene ChrX:7473322-7501435 (+)
129S1/SvImJ ENSMUSG00200031798
 protein coding gene ChrX:2194054-2197361 (+)
129S1/SvImJ ENSMUSGG00200054941
 protein coding gene ChrX:2173943-2185993 (+)
A/J ENSMUSGG00195054896
 protein coding gene ChrX:2196886-2208936 (+)
A/J ENSMUSG00195037229
 protein coding gene ChrX:2216999-2224924 (+)
AKR/J ENSMUSG00220032598
 protein coding gene ChrX:2199730-2207643 (+)
AKR/J ENSMUSGG00220054573
 protein coding gene ChrX:2179645-2191670 (+)
BALB/cJ ENSMUSG00180025872
 protein coding gene ChrX:2193637-2201564 (+)
BALB/cJ ENSMUSGG00180055225
 protein coding gene ChrX:2173520-2185574 (+)
C3H/HeJ ENSMUSG00175031575
 protein coding gene ChrX:2228697-2236624 (+)
C3H/HeJ ENSMUSGG00175054714
 protein coding gene ChrX:2208584-2220636 (+)
C57BL/6NJ ENSMUSG00215037724
 protein coding gene ChrX:2892535-2900460 (+)
C57BL/6NJ ENSMUSGG00215055416
 protein coding gene ChrX:2872419-2884469 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032887
 protein coding gene ChrX:1748832-1776794 (+)
CAST/EiJ no annotation
CBA/J ENSMUSG00210034788
 protein coding gene ChrX:2245568-2253493 (+)
CBA/J ENSMUSGG00210054631
 protein coding gene ChrX:2225439-2237505 (+)
DBA/2J ENSMUSGG00185057880
 protein coding gene ChrX:8842593-8854645 (+)
DBA/2J ENSMUSG00185027393
 protein coding gene ChrX:8862706-8870631 (+)
FVB/NJ ENSMUSG00205022378
 protein coding gene ChrX:2239329-2247256 (+)
FVB/NJ ENSMUSGG00205054250
 protein coding gene ChrX:2219216-2231266 (+)
JF1/MsJ no annotation
LP/J ENSMUSG00230027585
 protein coding gene ChrX:13382944-13390869 (+)
LP/J ENSMUSGG00230055542
 protein coding gene ChrX:13362837-13374883 (+)
NOD/ShiLtJ ENSMUSGG00190054521
 protein coding gene ChrX:2194531-2206556 (+)
NOD/ShiLtJ ENSMUSG00190034718
 protein coding gene ChrX:2214614-2222527 (+)
NZO/HlLtJ ENSMUSG00225045427
 protein coding gene ChrX:18648444-18651749 (+)
NZO/HlLtJ ENSMUSGG00225055425
 protein coding gene ChrX:18628332-18640382 (+)
PWK/PhJ no annotation
SPRET/EiJ ENSMSPG00010022057
 protein coding gene ChrX:2225171-2253335 (+)
WSB/EiJ no annotation



Homology
more
  • Human Ortholog
    CACNA1F, calcium voltage-gated channel subunit alpha1 F
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CACNA1F, calcium voltage-gated channel subunit alpha1 F
  • Synonyms
    AIED, Cav1.4, Cav1.4alpha1, COD3, COD4, CORDX, CORDX3, CSNB2, CSNB2A, CSNBX2, JM8, JMC8, OA2
  • Links
    NCBI Gene ID: 778
    UniProt: O60840

  • Chr Location
    Xp11.23; chrX:49205063-49233371 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Cacna1f mouse models; 4 with human CACNA1F associations

Human Disease Mouse Models
      
IDs
 View 12 models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    46 phenotypes from 6 alleles in 7 genetic backgrounds
    41 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous or hemizygous mutation of this gene results in impaired eye electrophysiology, abnormal retinal neuronal layer, bipolar cell, and horizontal cell morphology, and impaired retinal synapse morphology.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    34
  • GO References
    10
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    642
  • Tissues
    28
  • cDNA Data
    21
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 54652 NCBI Gene Model | MGI Sequence Detail 28094 C57BL/6J ±  kb
    transcript NM_019582 RefSeq | MGI Sequence Detail 6075 ZRU/MplStud  
    polypeptide Q9JIS7 UniProt | EBI | MGI Sequence Detail 1985 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      10 Sequences
    • Protein Ontology
      PR:000002115 voltage-dependent L-type calcium channel subunit alpha-1F
      (term hierarchy)
    • InterPro Domains
      IPR005821 Ion transport domain
      IPR050599 Voltage-dependent calcium channel alpha-1 subunit
      IPR002077 Voltage-dependent calcium channel, alpha-1 subunit
      IPR014873 Voltage-dependent calcium channel, alpha-1 subunit, IQ domain
      IPR005446 Voltage-dependent calcium channel, L-type, alpha-1 subunit
      IPR027359 Voltage-dependent channel domain superfamily
      IPR031649 Voltage-dependent L-type calcium channel, IQ-associated domain
      IPR031688 Voltage-gated calcium channel subunit alpha, C-terminal
    • GlyGen
      Q9JIS7 3 sites, 1 O-linked glycan (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 30
      Genomic 5
      cDNA 21
      Primer pair 4

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:3580350
    References
    more
    • Summaries
      All 83
      Developmental Gene Expression 6
      Diseases 5
      Gene Ontology 10
      Phenotypes 41
    • Earliest
      J:62168 Means GD, et al., A transcript map of a 2-Mb BAC contig in the proximal portion of the mouse X chromosome and regional mapping of the scurfy mutation. Genomics. 2000 May 1;65(3):213-23
    • Latest
      J:380996 Ganglberger M, et al., Quantitative Proteomics Identifies Potential Molecular Adaptations in Mouse Models of Congenital Stationary Night Blindness Type 2. Mol Cell Proteomics. 2025 Dec;24(12):101462
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    09/01/2026
    MGI 6.24     		The Jackson Laboratory