This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene can cause X-linked eye disorders, including congenital statio... See more...

Aliases for CACNA1F Gene

Aliases for CACNA1F Gene

  • Calcium Voltage-Gated Channel Subunit Alpha1 F 2 3 5
  • Calcium Channel, Voltage-Dependent, L Type, Alpha 1F Subunit 2 3
  • Voltage-Dependent L-Type Calcium Channel Subunit Alpha-1F 3 4
  • Voltage-Gated Calcium Channel Subunit Alpha Cav1.4 3 4
  • CORDX3 2 3
  • CSNB2A 2 3
  • CSNBX2 2 3
  • Cav1.4 2 3
  • JMC8 2 3
  • JM8 2 3
  • OA2 2 3
  • Aland Island Eye Disease (Forsius-Eriksson Ocular Albinism, Ocular Albinism Type 2) 2
  • Cav1.4alpha1 3
  • CACNA1F 5
  • CACNAF1 4
  • CORDX 3
  • CSNB2 3
  • AIED 3
  • COD3 3
  • COD4 3

External Ids for CACNA1F Gene

Previous HGNC Symbols for CACNA1F Gene

  • CSNB2
  • AIED

Previous GeneCards Identifiers for CACNA1F Gene

  • GC0XM047844
  • GC0XM047302
  • GC0XM047868
  • GC0XM048087
  • GC0XM048817
  • GC0XM048948
  • GC0XM049061
  • GC0XM046718

Summaries for CACNA1F Gene

Entrez Gene Summary for CACNA1F Gene

  • This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene can cause X-linked eye disorders, including congenital stationary night blindness type 2A, cone-rod dystropy, and Aland Island eye disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2013]

GeneCards Summary for CACNA1F Gene

CACNA1F (Calcium Voltage-Gated Channel Subunit Alpha1 F) is a Protein Coding gene. Diseases associated with CACNA1F include Aland Island Eye Disease and Night Blindness, Congenital Stationary, Type 2A. Among its related pathways are Integrin Pathway and GABAergic synapse. Gene Ontology (GO) annotations related to this gene include ion channel activity and high voltage-gated calcium channel activity. An important paralog of this gene is CACNA1D.

UniProtKB/Swiss-Prot Summary for CACNA1F Gene

  • [Isoform 1]: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1F gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, and by benzothiazepines. Activates at more negative voltages and does not undergo calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarization.
  • [Isoform 4]: Voltage-dependent L-type calcium channel activates at more hyperpolarized voltages and exhibits a robust calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarizations.
  • [Isoform 6]: Voltage-dependent L-type calcium channel activates at more hyperpolarized voltages and exibits a robust calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarizations.

Tocris Summary for CACNA1F Gene

  • Voltage-gated calcium channels (CaV) are present in the membrane of most excitable cells and mediate calcium influx in response to depolarization. They regulate intracellular processes such as contraction, secretion, neurotransmission and gene expression.

Gene Wiki entry for CACNA1F Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CACNA1F Gene

Genomics for CACNA1F Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CACNA1F Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ049233 Promoter 0.3 EPDnew 600.7 +0.0 44 0.1 CACNA1F HSPB1P2 RF00017-8425 SYP
GH0XJ049234 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 16.8 -2.7 -2697 4.2 CREB1 PRDM10 ZNF629 SIX5 IKZF1 KDM1A RCOR2 BACH1 JUND LARP7 CCDC22 HSPB1P2 CACNA1F KCND1 lnc-FOXP3-2 PPP1R3F
GH0XJ049188 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 14.5 +42.9 42933 4.3 SP1 HNRNPL CREB1 PRDM10 REST ZNF629 IKZF1 POLR2A ZNF692 FOS PRICKLE3 CACNA1F PLP2 ENSG00000204620 SYP SYP-AS1 lnc-PRICKLE3-3 RF00017-8425 RF00017-8434
GH0XJ049229 Enhancer 0.7 ENCODE 23.2 +2.6 2593 1.7 NR2C1 TRIM22 HDAC1 MGA UBTF NKRF CTCF EGR1 CTBP1 BCL11A RF00017-8425 CACNA1F SYP
GH0XJ049266 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 8.7 -35.7 -35732 5.3 SP1 CREB1 PRDM10 ZNF629 RFX1 POLR2A BACH1 FOS LARP7 DDX20 ENSG00000286181 FOXP3 PPP1R3F ENSG00000204620 FTSJ1 PRICKLE3 ENSG00000270012 RBM3 PLP2 CACNA1F
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CACNA1F on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CACNA1F

Top Transcription factor binding sites by QIAGEN in the CACNA1F gene promoter:
  • GATA-2
  • HNF-4alpha1
  • HOXA5
  • Pax-6
  • RP58
  • Sp1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • Tal-1beta

Genomic Locations for CACNA1F Gene

Genomic Locations for CACNA1F Gene
chrX:49,205,063-49,233,404
(GRCh38/hg38)
Size:
28,342 bases
Orientation:
Minus strand
chrX:49,061,523-49,089,833
(GRCh37/hg19)
Size:
28,311 bases
Orientation:
Minus strand

Genomic View for CACNA1F Gene

Genes around CACNA1F on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNA1F Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACNA1F Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNA1F Gene

Proteins for CACNA1F Gene

  • Protein details for CACNA1F Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60840-CAC1F_HUMAN
    Recommended name:
    Voltage-dependent L-type calcium channel subunit alpha-1F
    Protein Accession:
    O60840
    Secondary Accessions:
    • A6NI29
    • F5CIQ9
    • O43901
    • O95226
    • Q9UHB1

    Protein attributes for CACNA1F Gene

    Size:
    1977 amino acids
    Molecular mass:
    220678 Da
    Quaternary structure:
    • Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1, alpha-2, beta and delta subunits in a 1:1:1:1 ratio. The channel activity is directed by the pore-forming and voltage-sensitive alpha-1 subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity. Interacts (via IQ domain) with CABP4; in a calcium independent manner (By similarity).
    • [Isoform 4]: interacts with CABP4; suppreses robust calcium-dependent inactivation of channel whithout enhances the hyperpolarized voltage-dependent activation (PubMed:27226626).
    SequenceCaution:
    • Sequence=AAB92359.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for CACNA1F Gene

neXtProt entry for CACNA1F Gene

Post-translational modifications for CACNA1F Gene

  • Glycosylation at Asn295
  • Modification sites at PhosphoSitePlus

Other Protein References for CACNA1F Gene

No data available for DME Specific Peptides for CACNA1F Gene

Domains & Families for CACNA1F Gene

Gene Families for CACNA1F Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

Protein Domains for CACNA1F Gene

InterPro:
Blocks:
  • Calcium channel signature
  • L-type voltage-dependent calcium channel alpha-1 subunit signature
ProtoNet:

Suggested Antigen Peptide Sequences for CACNA1F Gene

GenScript: Design optimal peptide antigens:
  • Voltage-gated calcium channel subunit alpha Cav1.4 (CAC1F_HUMAN)
  • Voltage gated calcium channel alpha 1F subunit (F5CIQ9_HUMAN)
  • Voltage-gated L-type calcium channel alpha-1 subunit (O95226_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60840

UniProtKB/Swiss-Prot:

CAC1F_HUMAN :
  • Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position.
  • Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1F subfamily.
Domain:
  • Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position.
Family:
  • Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1F subfamily.
genes like me logo Genes that share domains with CACNA1F: view

Function for CACNA1F Gene

Molecular function for CACNA1F Gene

UniProtKB/Swiss-Prot Function:
[Isoform 1]: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1F gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, and by benzothiazepines. Activates at more negative voltages and does not undergo calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarization.
UniProtKB/Swiss-Prot Function:
[Isoform 4]: Voltage-dependent L-type calcium channel activates at more hyperpolarized voltages and exhibits a robust calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarizations.
UniProtKB/Swiss-Prot Function:
[Isoform 6]: Voltage-dependent L-type calcium channel activates at more hyperpolarized voltages and exibits a robust calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarizations.
GENATLAS Biochemistry:
transverse tubule (TT) calcium voltage-gated channel (VDCC),L (long lasting) type,dihydropyridine (DHP) sensitive,alpha 1F subunit,specifically expressed in retina

Gene Ontology (GO) - Molecular Function for CACNA1F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005245 voltage-gated calcium channel activity IBA,IDA 15897456
GO:0005262 calcium channel activity IEA --
GO:0008331 high voltage-gated calcium channel activity IEA,IBA 21873635
genes like me logo Genes that share ontologies with CACNA1F: view
genes like me logo Genes that share phenotypes with CACNA1F: view

Human Phenotype Ontology for CACNA1F Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CACNA1F Gene

MGI Knock Outs for CACNA1F:

Animal Model Products

  • Taconic Biosciences Mouse Models for CACNA1F

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNA1F

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , miRNA , Transcription Factor Targets and HOMER Transcription for CACNA1F Gene

Localization for CACNA1F Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNA1F Gene

Membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CACNA1F gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
mitochondrion 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CACNA1F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0005886 plasma membrane TAS --
GO:0005891 voltage-gated calcium channel complex IEA,IDA 15897456
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IDA 15897456
genes like me logo Genes that share ontologies with CACNA1F: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CACNA1F Gene

Pathways & Interactions for CACNA1F Gene

PathCards logo

SuperPathways for CACNA1F Gene

SuperPathway Contained pathways
1 nNOS Signaling in Skeletal Muscle
.44
.44
.37
.36
.31
2 TCR Signaling (Qiagen)
.68
.68
.54
.49
.39
3 Aldosterone synthesis and secretion
4 Activation of cAMP-Dependent PKA
.77
.77
.56
5 CCR5 Pathway in Macrophages
.52
.52
.33
genes like me logo Genes that share pathways with CACNA1F: view

Pathways by source for CACNA1F Gene

1 GeneGo (Thomson Reuters) pathway for CACNA1F Gene
  • Transcription CREB pathway
37 Qiagen pathways for CACNA1F Gene
  • Activation of cAMP-Dependent PKA
  • all-trans-Retinoic Acid Signaling in Brain
  • Androgen Signaling
  • BMP Pathway
  • Calpain Protease Regulates Cellular Mechanics

Gene Ontology (GO) - Biological Process for CACNA1F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IBA 21873635
GO:0007601 visual perception IEA,IMP 9662399
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0043029 T cell homeostasis IEA --
genes like me logo Genes that share ontologies with CACNA1F: view

No data available for SIGNOR curated interactions for CACNA1F Gene

Drugs & Compounds for CACNA1F Gene

(36) Drugs for CACNA1F Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nimodipine Approved, Investigational Pharma Activator, Potentiation, Target, inhibitor Ca2+ channel blocker (L-type) 42
Clevidipine Approved, Investigational Pharma Target 24
Cinnarizine Approved, Investigational Pharma Target, inhibitor 2
Verapamil Approved Pharma Channel blocker, Pore Blocker, Inhibitor, Inhibition, blocker 134
Isradipine Approved, Investigational Pharma Gating inhibitor, blocker 14

(3) Additional Compounds for CACNA1F Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
O-Desmethylverapamil (D-702)
(+-)-Bay K 8644
71145-03-4
Verapamil hydrochloride
152-11-4

(5) Tocris Compounds for CACNA1F Gene

Compound Action Cas Number
(+-)-Bay K 8644 Ca2+ channel activator (L-type) 71145-03-4
Nimodipine Ca2+ channel blocker (L-type) 66085-59-4
Nitrendipine Ca2+ channel blocker (L-type) 39562-70-4
Ruthenium Red Non-selective Ca2+ channel blocker (N- and P-type) 11103-72-3
Verapamil hydrochloride Ca2+ channel blocker (L-type) 152-11-4
genes like me logo Genes that share compounds with CACNA1F: view

Transcripts for CACNA1F Gene

mRNA/cDNA for CACNA1F Gene

3 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNA1F

Alternative Splicing Database (ASD) splice patterns (SP) for CACNA1F Gene

No ASD Table

Relevant External Links for CACNA1F Gene

GeneLoc Exon Structure for
CACNA1F

Expression for CACNA1F Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CACNA1F Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CACNA1F Gene

This gene is overexpressed in Cervix (54.8), Heart (7.4), and Retina (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CACNA1F Gene



Protein tissue co-expression partners for CACNA1F Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CACNA1F

SOURCE GeneReport for Unigene cluster for CACNA1F Gene:

Hs.632799

mRNA Expression by UniProt/SwissProt for CACNA1F Gene:

O60840-CAC1F_HUMAN
Tissue specificity: Expression in skeletal muscle and retina (PubMed:10873387). Isoform 4 is expressed in retina (PubMed:27226626).

Evidence on tissue expression from TISSUES for CACNA1F Gene

  • Eye(4.6)
  • Nervous system(2.4)
  • Intestine(2.3)
  • Skin(2.1)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CACNA1F Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • head
  • lacrimal apparatus
  • pituitary gland
Thorax:
  • breast
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with CACNA1F: view

Primer Products

No data available for mRNA differential expression in normal tissues for CACNA1F Gene

Orthologs for CACNA1F Gene

This gene was present in the common ancestor of animals.

Orthologs for CACNA1F Gene

Organism Taxonomy Gene Similarity Type Details
Cow
(Bos Taurus)
Mammalia CACNA1F 30 31
  • 90.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CACNA1F 30 31
  • 90.28 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cacna1f 30 17 31
  • 87.51 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cacna1f 30
  • 86.59 (n)
Oppossum
(Monodelphis domestica)
Mammalia CACNA1F 31
  • 79 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CACNA1F 31
  • 70 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CACNA1F 31
  • 70 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cacna1f 30
  • 69.58 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC559964 30
  • 67.73 (n)
CACNA1F (1 of 2) 31
  • 64 (a)
OneToMany
cacna1f 31
  • 63 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Ca-alpha1D 32
  • 60 (a)
Worm
(Caenorhabditis elegans)
Secernentea egl-19 32
  • 57 (a)
unc-2 32
  • 46 (a)
Species where no ortholog for CACNA1F was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CACNA1F Gene

ENSEMBL:
Gene Tree for CACNA1F (if available)
TreeFam:
Gene Tree for CACNA1F (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CACNA1F: view image

Paralogs for CACNA1F Gene

(8) SIMAP similar genes for CACNA1F Gene using alignment to 2 proteins:

  • CAC1F_HUMAN
  • H7C549_HUMAN
genes like me logo Genes that share paralogs with CACNA1F: view

Variants for CACNA1F Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CACNA1F Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
624414 Pathogenic: not provided 49,218,676(-) CAT/C FRAMESHIFT_VARIANT
636005 Likely Pathogenic: Retinitis pigmentosa 49,228,448(-) C/T SPLICE_ACCEPTOR_VARIANT
636157 Uncertain Significance: Ocular albinism, type II 49,210,990(-) A/G MISSENSE_VARIANT
636158 Uncertain Significance: Macular dystrophy 49,216,379(-) C/T INTRON_VARIANT
717130 Benign: not provided 49,208,590(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CACNA1F Gene

Structural Variations from Database of Genomic Variants (DGV) for CACNA1F Gene

Variant ID Type Subtype PubMed ID
esv32909 CNV gain+loss 17666407
nsv469734 CNV gain+loss 16826518
nsv471602 CNV gain 15918152
nsv528292 CNV gain 19592680
nsv6895 CNV insertion 18451855
nsv7442 OTHER inversion 18451855

Variation tolerance for CACNA1F Gene

Residual Variation Intolerance Score: 12.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.28; 85.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CACNA1F Gene

Human Gene Mutation Database (HGMD)
CACNA1F
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CACNA1F

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNA1F Gene

Disorders for CACNA1F Gene

MalaCards: The human disease database

(43) MalaCards diseases for CACNA1F Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CAC1F_HUMAN
  • Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. {ECO:0000269 PubMed:11281458, ECO:0000269 PubMed:12111638, ECO:0000269 PubMed:12187427, ECO:0000269 PubMed:15897456, ECO:0000269 PubMed:22194652, ECO:0000269 PubMed:9662399, ECO:0000269 PubMed:9662400}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cone-rod dystrophy, X-linked 3 (CORDX3) [MIM:300476]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269 PubMed:16505158}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Aaland island eye disease (AIED) [MIM:300600]: A retinal disease characterized by a combination of fundus hypopigmentation, decreased visual acuity due to foveal hypoplasia, nystagmus, astigmatism, protan color vision defect, myopia, and defective dark adaptation. Except for progression of axial myopia, the disease can be considered to be a stationary condition. Electroretinography reveals abnormalities in both photopic and scotopic functions. {ECO:0000269 PubMed:17525176, ECO:0000269 PubMed:22194652}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CACNA1F

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CACNA1F: view

No data available for Genatlas for CACNA1F Gene

Publications for CACNA1F Gene

  1. A novel CACNA1F gene mutation causes Aland Island eye disease. (PMID: 17525176) Jalkanen R … Alitalo T (Investigative ophthalmology & visual science 2007) 2 3 4 23
  2. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. (PMID: 9662400) Bech-Hansen NT … Boycott KM (Nature genetics 1998) 2 3 4 23
  3. X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. (PMID: 16505158) Jalkanen R … Bech-Hansen NT (Journal of medical genetics 2006) 3 4 23
  4. Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. (PMID: 16960802) Zeitz C … Berger W (American journal of human genetics 2006) 3 4 23
  5. A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation. (PMID: 15897456) Hemara-Wahanui A … Maw MA (Proceedings of the National Academy of Sciences of the United States of America 2005) 3 4 23

Products for CACNA1F Gene

Sources for CACNA1F Gene