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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
  • Gene Overview
    MyGene.info: CACNA1F
  • Alliance
Location & Maps
more
  • Genetic Map
    Chromosome X, 3.42 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    CACNA1F, calcium voltage-gated channel subunit alpha1 F
  • Vertebrate Orthologs
    9
  • Human Ortholog
    CACNA1F, calcium voltage-gated channel subunit alpha1 F
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AIED, Cav1.4, Cav1.4alpha1, COD3, COD4, CORDX, CORDX3, CSNB2, CSNB2A, CSNBX2, JM8, JMC8, OA2
  • Links
    NCBI Gene ID: 778
    neXtProt AC: NX_O60840
    UniProt: O60840

  • Chr Location
    Xp11.23; chrX:49205063-49233404 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Cacna1f mouse models; 3 with human CACNA1F associations

Human Disease Mouse Models
      
IDs
View 11 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    35 phenotypes from 4 alleles in 5 genetic backgrounds
    20 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000017707 VEGA Gene Model | MGI Sequence Detail 28114 C57BL/6J ±  kb
    transcript OTTMUST00000042905 VEGA | MGI Sequence Detail 6079 Not Applicable  
    polypeptide OTTMUSP00000019288 VEGA | MGI Sequence Detail 1984 Not Applicable  
    For the selected sequence
    Polymorphisms
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    • SNPs within 2kb
      151 from dbSNP Build 142
    Protein
    Information
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    • UniProt
      8 Sequences
    • InterPro Domains
      IPR005821 Ion transport domain
      IPR002077 Voltage-dependent calcium channel, alpha-1 subunit
      IPR014873 Voltage-dependent calcium channel, alpha-1 subunit, IQ domain
      IPR030157 Voltage-dependent calcium channel, L-type, alpha-1F subunit
      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
    Molecular
    Reagents
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    • All nucleic 29
      Genomic 5
      cDNA 21
      Primer pair 3

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:3580350
    References
    more
    • Summaries
      All 54
      Developmental Gene Expression 5
      Diseases 4
      Gene Ontology 9
      Phenotypes 20
    • 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:265366 Kerov V, et al., alpha2delta-4 Is Required for the Molecular and Structural Organization of Rod and Cone Photoreceptor Synapses. J Neurosci. 2018 Jul 4;38(27):6145-6160

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    10/16/2018
    MGI 6.12
    The Jackson Laboratory