Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CACNA1F (calcium voltage-gated channel subunit alpha1 F)

Identity

Alias_namesCSNB2
AIED
Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)
calcium channel, voltage-dependent, L type, alpha 1F subunit
Alias_symbol (synonym)Cav1.4
JM8
JMC8
CSNBX2
CORDX3
CSNB2A
OA2
Other aliasCOD3
COD4
CORDX
Cav1.4alpha1
HGNC (Hugo) CACNA1F
LocusID (NCBI) 778
Atlas_Id 56376
Location Xp11.23  [Link to chromosome band Xp11]
Location_base_pair Starts at 49205063 and ends at 49233371 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)		CACNA1F (Xp11.23) / CACNA1F (Xp11.23)PRICKLE3 (Xp11.23) / CACNA1F (Xp11.23)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)CACNA1F   1393
Cards
Entrez_Gene (NCBI)CACNA1F  778  calcium voltage-gated channel subunit alpha1 F
AliasesAIED; COD3; COD4; CORDX; 
CORDX3; CSNB2; CSNB2A; CSNBX2; Cav1.4; Cav1.4alpha1; JM8; JMC8; OA2
GeneCards (Weizmann)CACNA1F
Ensembl hg19 (Hinxton)ENSG00000102001 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000102001 [Gene_View]  chrX:49205063-49233371 [Contig_View]  CACNA1F [Vega]
ICGC DataPortalENSG00000102001
TCGA cBioPortalCACNA1F
AceView (NCBI)CACNA1F
Genatlas (Paris)CACNA1F
WikiGenes778
SOURCE (Princeton)CACNA1F
Genetics Home Reference (NIH)CACNA1F
Genomic and cartography
GoldenPath hg38 (UCSC)CACNA1F  -     chrX:49205063-49233371 -  Xp11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CACNA1F  -     Xp11.23   [Description]    (hg19-Feb_2009)
EnsemblCACNA1F - Xp11.23 [CytoView hg19]  CACNA1F - Xp11.23 [CytoView hg38]
Mapping of homologs : NCBICACNA1F [Mapview hg19]  CACNA1F [Mapview hg38]
OMIM300071   300110   300476   300600   
Gene and transcription
Genbank (Entrez)AA019975 AF067227 AF201304 AJ224874 BM931932
RefSeq transcript (Entrez)NM_001256789 NM_001256790 NM_005183
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CACNA1F
Cluster EST : UnigeneHs.632799 [ NCBI ]
CGAP (NCI)Hs.632799
Alternative Splicing GalleryENSG00000102001
Gene ExpressionCACNA1F [ NCBI-GEO ]   CACNA1F [ EBI - ARRAY_EXPRESS ]   CACNA1F [ SEEK ]   CACNA1F [ MEM ]
Gene Expression Viewer (FireBrowse)CACNA1F [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)778
GTEX Portal (Tissue expression)CACNA1F
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60840   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60840  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60840
Splice isoforms : SwissVarO60840
PhosPhoSitePlusO60840
Domains : Interpro (EBI)CAC1F_C    Channel_four-helix_dom    GPHH_dom    Ion_trans_dom    VDCC_a1su_IQ    VDCC_L_a1F    VDCC_L_a1su    VDCCAlpha1   
Domain families : Pfam (Sanger)Ca_chan_IQ (PF08763)    CAC1F_C (PF16885)    GPHH (PF16905)    Ion_trans (PF00520)   
Domain families : Pfam (NCBI)pfam08763    pfam16885    pfam16905    pfam00520   
Domain families : Smart (EMBL)Ca_chan_IQ (SM01062)  
Conserved Domain (NCBI)CACNA1F
DMDM Disease mutations778
Blocks (Seattle)CACNA1F
SuperfamilyO60840
Human Protein AtlasENSG00000102001
Peptide AtlasO60840
HPRD02119
IPIIPI00465135   IPI00925706   IPI00937757   IPI00944898   
Protein Interaction databases
DIP (DOE-UCLA)O60840
IntAct (EBI)O60840
FunCoupENSG00000102001
BioGRIDCACNA1F
STRING (EMBL)CACNA1F
ZODIACCACNA1F
Ontologies - Pathways
QuickGOO60840
Ontology : AmiGOphotoreceptor outer segment  voltage-gated calcium channel activity  plasma membrane  voltage-gated calcium channel complex  visual perception  high voltage-gated calcium channel activity  integral component of membrane  regulation of ion transmembrane transport  T cell homeostasis  perikaryon  metal ion binding  regulation of T cell receptor signaling pathway  detection of light stimulus involved in visual perception  cardiac conduction  calcium ion transmembrane transport  membrane depolarization during action potential  
Ontology : EGO-EBIphotoreceptor outer segment  voltage-gated calcium channel activity  plasma membrane  voltage-gated calcium channel complex  visual perception  high voltage-gated calcium channel activity  integral component of membrane  regulation of ion transmembrane transport  T cell homeostasis  perikaryon  metal ion binding  regulation of T cell receptor signaling pathway  detection of light stimulus involved in visual perception  cardiac conduction  calcium ion transmembrane transport  membrane depolarization during action potential  
Pathways : KEGG   
NDEx NetworkCACNA1F
Atlas of Cancer Signalling NetworkCACNA1F
Wikipedia pathwaysCACNA1F
Orthology - Evolution
OrthoDB778
GeneTree (enSembl)ENSG00000102001
Phylogenetic Trees/Animal Genes : TreeFamCACNA1F
HOVERGENO60840
HOGENOMO60840
Homologs : HomoloGeneCACNA1F
Homology/Alignments : Family Browser (UCSC)CACNA1F
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCACNA1F [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CACNA1F
dbVarCACNA1F
ClinVarCACNA1F
1000_GenomesCACNA1F 
Exome Variant ServerCACNA1F
ExAC (Exome Aggregation Consortium)CACNA1F (select the gene name)
Genetic variants : HAPMAP778
Genomic Variants (DGV)CACNA1F [DGVbeta]
DECIPHERCACNA1F [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCACNA1F 
Mutations
ICGC Data PortalCACNA1F 
TCGA Data PortalCACNA1F 
Broad Tumor PortalCACNA1F
OASIS PortalCACNA1F [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCACNA1F  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCACNA1F
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch CACNA1F
DgiDB (Drug Gene Interaction Database)CACNA1F
DoCM (Curated mutations)CACNA1F (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CACNA1F (select a term)
intoGenCACNA1F
Cancer3DCACNA1F(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300071    300110    300476    300600   
Orphanet18015    923    1843   
MedgenCACNA1F
Genetic Testing Registry CACNA1F
NextProtO60840 [Medical]
TSGene778
GENETestsCACNA1F
Target ValidationCACNA1F
Huge Navigator CACNA1F [HugePedia]
snp3D : Map Gene to Disease778
BioCentury BCIQCACNA1F
ClinGenCACNA1F
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD778
Chemical/Pharm GKB GenePA26010
Clinical trialCACNA1F
Miscellaneous
canSAR (ICR)CACNA1F (select the gene name)
Probes
Litterature
PubMed62 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCACNA1F
EVEXCACNA1F
GoPubMedCACNA1F
iHOPCACNA1F
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:26:26 CEST 2017
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