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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
Location & Maps
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Homology
more
  • Human Ortholog
    CACNA1F, calcium channel, voltage-dependent, L type, alpha 1F subunit
  • Vertebrate Orthologs
    9
  • Human Ortholog
    CACNA1F, calcium channel, voltage-dependent, L type, alpha 1F subunit
    Orthology source: HGNC, HomoloGene
  • 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

  • Chr Location
    Xp11.23; chrX:49205063-49233671 (-)  GRCh38.p2

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

Human Disease Mouse Models
       Night Blindness, Congenital Stationary, Type 2A; CSNB2A   OMIM: 300071 View 11 models
       Aland Island Eye Disease; AIED   OMIM: 300600
Cone-Rod Dystrophy, X-Linked, 3; CORDX3   OMIM: 300476
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
    34 phenotypes from 4 alleles in 5 genetic backgrounds
    14 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    6
  • Spontaneous
    1
  • Targeted
    5
  • Incidental Mutations
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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
    150 from dbSNP Build 137
Protein
Information
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  • UniProt
    8 Sequences
  • Protein Ontology
    PR:000002115 voltage-dependent L-type calcium channel subunit alpha-1F
  • 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, four helix bundle domain
    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 30
    Genomic 5
    cDNA 20
    Primer pair 3
    Other 2

    Microarray probesets 2
Other
Accession IDs
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MGI:3580350
References
more
  • Summaries
    All 45
    Developmental Gene Expression 5
    Diseases 4
    Gene Ontology 8
    Phenotypes 14
  • 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:227658 Cao Y, et al., Mechanism for Selective Synaptic Wiring of Rod Photoreceptors into the Retinal Circuitry and Its Role in Vision. Neuron. 2015 Sep 23;87(6):1248-60

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
02/02/2016
MGI 6.02
The Jackson Laboratory