Free for academic non-profit institutions. Other users need a Commercial license

CACNA1F Gene(Protein Coding)

Calcium Voltage-Gated Channel Subunit Alpha1 F

GCID:
GC0XM049205
GIFtS:
63
Genes Participants
UDN Logo

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-Gated Calcium Channel Subunit Alpha Cav1.4 3 4
  • Aland Island Eye Disease (Forsius-Eriksson Ocular Albinism, Ocular Albinism Type 2) 2
  • Voltage-Dependent L-Type Calcium Channel Subunit Alpha-1F 3
  • Cav1.4alpha1 3
  • CACNAF1 4
  • CORDX3 3
  • CSNB2A 3
  • CSNBX2 3
  • Cav1.4 3
  • CORDX 3
  • CSNB2 3
  • COD3 3
  • COD4 3
  • JMC8 3
  • AIED 3
  • JM8 3
  • OA2 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 , 2A, X-Linked. Among its related pathways are CCR5 Pathway in Macrophages and Serotonergic synapse. 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 for CACNA1F Gene

  • 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, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA).

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 , fRNAdb sequence ontologies and piRNA Summary for CACNA1F Gene

Genomics for CACNA1F Gene

Products:

  1. Regulatory Element

Regulatory Elements for CACNA1F Gene

Enhancers for CACNA1F Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG049229 1 Ensembl ENCODE 23.3 +2.9 2860 1.7 HDAC1 CTCF KLF1 ATF1 RB1 SIN3A BCL11B EGR1 POLR2A NR2F6 CACNA1F SYP
GH0XG049188 1.3 Ensembl ENCODE 14.4 +43.2 43201 4.3 HDGF PKNOX1 FOXA2 CREB3L1 ARID4B SIN3A ZBTB7B ZNF143 FOS ZNF263 PRICKLE3 CACNA1F PLP2 ENSG00000204620 SYP-AS1
GH0XG049234 1 ENCODE 15.3 -1.9 -1930 1.5 HDGF PKNOX1 ATF1 CREB3L1 ARNT SIN3A DMAP1 ZNF2 YY1 ETS1 CACNA1F KCND1 CCDC22 FOXP3
GH0XG049163 1.4 ENCODE dbSUPER 6.9 +67.6 67634 5.5 HDGF PKNOX1 FOXA2 CREB3L1 SIN3A ZNF2 YY1 ZNF207 ZNF143 FOS USP27X-AS1 RN7SL262P CACNA1F PLP2 GC0XP049169 ENSG00000279422
GH0XG049266 1.1 ENCODE 8.6 -35.1 -35139 4.7 HDGF FOXA2 PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A ZNF2 YY1 ENSG00000204620 PRICKLE3 ENSG00000270012 PLP2 CACNA1F USP27X-AS1 FOXP3 CCDC22
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CACNA1F on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the CACNA1F gene promoter:

Genomic Location for CACNA1F Gene

Chromosome:
X
Start:
49,205,063 bp from pter
End:
49,233,671 bp from pter
Size:
28,609 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 Structure • Gene Density

RefSeq DNA sequence for CACNA1F Gene

Proteins for CACNA1F Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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).
    SequenceCaution:
    • Sequence=AAB92359.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for CACNA1F Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CACNA1F Gene

Protein Expression for CACNA1F Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CACNA1F Gene

  • Glycosylation at posLast=295295
  • Modification sites at PhosphoSitePlus

Other Protein References for CACNA1F Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CACNA1F Gene

Domains & Families for CACNA1F Gene

Gene Families for CACNA1F Gene

HGNC:
IUPHAR :

Protein Domains for CACNA1F Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CACNA1F Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for CACNA1F Gene

GENATLAS Biochemistry:
transverse tubule (TT) calcium voltage-gated channel (VDCC),L (long lasting) type,dihydropyridine (DHP) sensitive,alpha 1F subunit,specifically expressed in retina
UniProtKB/Swiss-Prot Function:
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, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA).

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 IDA 15897456
GO:0005262 calcium channel activity IEA --
GO:0008331 high voltage-gated calcium channel activity IEA,IBA --
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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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 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

Pathways & Interactions for CACNA1F Gene

genes like me logo Genes that share pathways with CACNA1F: view

Gene Ontology (GO) - Biological Process for CACNA1F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0007601 visual perception IMP,IEA 9662399
GO:0034765 regulation of ion transmembrane transport 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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Verapamil Approved Pharma Channel blocker, blocker, Target, inhibitor 130
Cinnarizine Approved Pharma Target, inhibitor 2
Nimodipine Approved Pharma Potentiation, Activator, Target, inhibitor 25
Clevidipine Approved Pharma Target 20
Isradipine Approved Pharma Gating inhibitor, blocker 13

(4) 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
omega-agatoxin IVA
Channel blocker 145017-83-0
omega-conotoxin GVIA
Channel blocker 106375-28-4

(5) Tocris Compounds for CACNA1F Gene

Compound Action Cas Number
(+-)-Bay K 8644 Ca2+ channel activator (L-type) 71145-03-4
Mibefradil dihydrochloride Ca2+ channel blocker (T-type) 116666-63-8
omega-Agatoxin IVA Ca2+ channel blocker (P-type) 145017-83-0
omega-Conotoxin GVIA Ca2+ channel blocker (N-type) 106375-28-4
Pregabalin Anticonvulsant; selectively binds the alpha2delta subunit of voltage-sensitive calcium channels 148553-50-8
genes like me logo Genes that share compounds with CACNA1F: view

Transcripts for CACNA1F Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for CACNA1F Gene

(5) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(24) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CACNA1F Gene

Calcium channel, voltage-dependent, L type, alpha 1F subunit:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for CACNA1F Gene

GeneLoc Exon Structure for
CACNA1F
ECgene alternative splicing isoforms for
CACNA1F

Expression for CACNA1F Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for CACNA1F Gene
mRNA expression by BioGPS for CACNA1F GenemRNA expression by GTEx 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, PaxDb, and MOPED for CACNA1F Gene



Protein tissue co-expression partners for CACNA1F Gene

NURSA nuclear receptor signaling pathways regulating expression of CACNA1F Gene:

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.

Evidence on tissue expression from TISSUES for CACNA1F Gene

  • Eye(4.6)

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
Organs:
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

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 34 35
  • 90.7 (n)
dog
(Canis familiaris)
 Mammalia CACNA1F 34 35
  • 90.28 (n)
mouse
(Mus musculus)
 Mammalia Cacna1f 34 16 35
  • 87.51 (n)
rat
(Rattus norvegicus)
 Mammalia Cacna1f 34
  • 86.59 (n)
oppossum
(Monodelphis domestica)
 Mammalia CACNA1F 35
  • 79 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia CACNA1F 35
  • 70 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia CACNA1F 35
  • 70 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia cacna1f 34
  • 69.58 (n)
zebrafish
(Danio rerio)
 Actinopterygii LOC559964 34
  • 67.73 (n)
CACNA1F (1 of 2) 35
  • 64 (a)
 OneToMany
cacna1f 35
  • 63 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta Ca-alpha1D 36
  • 60 (a)
worm
(Caenorhabditis elegans)
 Secernentea egl-19 36
  • 57 (a)
unc-2 36
  • 46 (a)
Species where no ortholog for CACNA1F was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for CACNA1F Gene

Paralogs for CACNA1F Gene

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

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

Variants for CACNA1F Gene

Sequence variations from dbSNP and Humsavar for CACNA1F Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs122456133 Pathogenic, Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] 49,228,048(-) GCTTG(A/G)CGTCC reference, missense
rs122456136 Pathogenic, Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] 49,222,576(-) TGCCA(C/T)TGCTG reference, missense
rs141010716 Likely benign, Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] 49,224,768(+) GGTGA(C/T)CTTAA reference, missense
rs201654095 Aaland island eye disease (AIED) [MIM:300600], Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] 49,224,864(+) GCCCC(C/G)ACAGA reference, missense
rs34162630 Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] 49,226,037(-) CCTTC(A/G)GGCAC reference, missense

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)

Relevant External Links 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

(19) MalaCards diseases for CACNA1F Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
aland island eye disease
  • forsius-eriksson syndrome
night blindness, congenital stationary , 2a, x-linked
  • congenital stationary night blindness 2a
cone-rod dystropy, x-linked, 3
  • x-linked cone-rod dystrophy 3
congenital stationary night blindness
  • congenital essential nyctalopia
cacna1f-related x-linked congenital stationary night blindness
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CAC1F_HUMAN
  • 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.
  • 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.
  • 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.

Relevant External Links for CACNA1F

Genetic Association Database (GAD)
CACNA1F
Human Genome Epidemiology (HuGE) Navigator
CACNA1F
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CACNA1F
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. (Invest. Ophthalmol. Vis. Sci. 2007) 2 3 4 22 64
  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 N.T. … Boycott K.M. (Nat. Genet. 1998) 2 3 4 22 64
  3. X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. (PMID: 16505158) Jalkanen R. … Bech-Hansen N.T. (J. Med. Genet. 2006) 3 4 22 64
  4. Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. (PMID: 16960802) Zeitz C. … Berger W. (Am. J. Hum. Genet. 2006) 3 4 22 64
  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 M.A. (Proc. Natl. Acad. Sci. U.S.A. 2005) 3 4 22 64

Products for CACNA1F Gene

Sources for CACNA1F Gene

Content
Loading form....