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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CACNA1F Gene

protein-coding GIFtS: 64
GCID: GC0XM049061

calcium channel, voltage-dependent, L type, alpha 1F subunit

(Previous names: Aland island eye disease (Forsius-Eriksson ocular albinism,...)
(Previous symbols: CSNB2, AIED)

Explore 15 diseases affiliated with
CACNA1F via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Calcium Channel, Voltage-Dependent, L Type, Alpha 1F Subunit¹ ²		Aland Island Eye Disease (Forsius-Eriksson Ocular Albinism, Ocular Albinism Type 2)¹ ²
AIED¹ ² ⁵		Voltage-Gated Calcium Channel Subunit Alpha Cav1.4² ³
CORDX3¹ ² ⁵		COD3²
CSNB2¹ ² ⁵		COD4²
CSNB2A¹ ² ⁵		CORDX²
OA2¹ ² ⁵		Cav1.4alpha1²
CSNBX2¹ ²		Voltage Gated Calcium Channel Alpha 1F Subunit²
Cav1.4¹ ²		Voltage-Dependent L-Type Calcium Channel Subunit Alpha-1F²
JM8¹ ²		CACNAF1³
JMC8¹ ²

External Ids:	HGNC: 1393¹	Entrez Gene: 778²	Ensembl: ENSG00000102001⁷	OMIM: 300110⁵	UniProtKB: O60840³

Export aliases for CACNA1F gene to outside databases

Previous GC identifers: GC0XM047844 GC0XM047302 GC0XM047868 GC0XM048087 GC0XM048817 GC0XM048948 GC0XM046718

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CACNA1F:

This gene encodes a member of the alpha-1 subunit family; a protein in the voltage-dependent calcium channel complex.

Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex

of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane

segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins

in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Multiple

alternatively spliced transcript variants encoding different isoforms have been found for this gene. Mutations in this

gene have been shown to cause incomplete X-linked congential stationary night blindness type 2 (CSNB2). (provided by

RefSeq, Feb 2012)

UniProtKB/Swiss-Prot: CAC1F_HUMAN, O60840

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)

summary for CACNA1F:

Voltage-gated calcium channels (CaV) are present in the membrane of most excitable cells and mediate calcium

influx in response to depolarisation. They regulate intracellular processes such as contraction, secretion,

neurotransmission and gene expression. Voltage-gated calcium channels are formed from four or five distinct

subunits; the alpha-subunit is the largest subunit and incorporates the voltage sensor, conduction pore and

gating apparatus. Using pharmacological and electrophysiological techniques, at least 6 types of

voltage-gated channels have been identified: L, N, P, Q, R and T, which are grouped into three families.

Cav1.x are high-voltage-activated dihydropyridine-sensitive (L-type), Cav2.x are high-voltage-activated

dihydropyridine-insensitive (N-, P- Q- and R-types) and Cav3.x are low-voltage-activated channels (T-type).

Gene Wiki entry for CACNA1F (Cav1.4)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_079573.4

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CACNA1F gene promoter:
RP58 Sp1 Pax-6 SREBP-1c Tal-1beta GATA-2 SREBP-1b HNF-4alpha1 SREBP-1a HOXA5
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CACNA1F promoter sequence

Search SABiosciences Chromatin IP Primers for CACNA1F

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CACNA1F

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp11.23 Ensembl cytogenetic band: Xp11.23 HGNC cytogenetic band: Xp11.23

CACNA1F Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CACNA1F gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM049061: view genomic region (about GC identifiers)

Start:	49,061,523 bp from pter	End:	49,089,833 bp from pter
Size:	28,311 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CAC1F_HUMAN, O60840 (See protein sequence)

Recommended Name: Voltage-dependent L-type calcium channel subunit alpha-1F

Size: 1977 amino acids; 220678 Da

Subunit: 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)

Subcellular location: Membrane; Multi-pass membrane protein

Sequence caution: Sequence=AAB92359.1; Type=Erroneous gene model prediction;

Secondary accessions: A6NI29 O43901 O95226 Q9UHB1

Alternative splicing: 3 isoforms: O60840-1 O60840-2 O60840-4

Explore the universe of human proteins at neXtProt for CACNA1F: NX_O60840

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O60840

CACNA1F Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001243718.1 NP_001243719.1 NP_005174.2

ENSEMBL proteins:

ENSP00000365427 ENSP00000321618 ENSP00000365441 ENSP00000418961

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Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005891	voltage-gated calcium channel complex	IDA	15897456
GO:0016021	integral to membrane	IDA	15897456

CACNA1F for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CACNA1F for domains About GeneDecksing

4 InterPro domains/families:

IPR005446 VDCC_L_a1su

IPR002077 VDCCAlpha1

IPR014873 VDCC_a1su_IQ

IPR005821 Ion_trans_dom

Graphical View of Domain Structure for InterPro Entry O60840

ProtoNet protein and cluster: O60840

2 Blocks protein families:

IPB002077 Calcium channel signature

IPB005446 L-type voltage-dependent calcium channel alpha-1 subunit signature

UniProtKB/Swiss-Prot: CAC1F_HUMAN, O60840

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

Similarity: Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1F subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: CAC1F_HUMAN, O60840

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)

Genatlas biochemistry entry for CACNA1F:

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): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005245	voltage-gated calcium channel activity	IDA	15897456
GO:0046872	metal ion binding	IEA	--

CACNA1F for ontologies About GeneDecksing

Phenotypes:
3 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Cacna1f):

nervous system

no phenotypic analysis

vision/eye

CACNA1F for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for CACNA1F: Cacna1f^tm1Ntbh Cacna1f^tm1.1Sdie

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CACNA1F

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CACNA1F

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/29 super-pathways (see all 29) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

DREAM Repression and Dynorphin Expression

DREAM Repression and Dynorphin Expression	1.00	Caspase Cascade	0.24
BMP Pathway	0.44	Calpain Protease Regulates Cellular Mechanics	0.22
nNOS Signaling in Skeletal Muscle	0.37

PKC-Theta Pathway

PKC-Theta Pathway	1.00	Fc-EpsilonRI Pathway	0.42
TCR Signaling	0.68	PDGF Pathway	0.35
ITK and TCR Signaling	0.54

Sweet Taste Signaling

	Sweet Taste Signaling	1.00			Cellular Effects of Sildenafil	0.46
	Melatonin Signaling	0.72

Activation of cAMP-Dependent PKA

	Activation of cAMP-Dependent PKA	1.00			PKA Signaling	0.56
	cAMP Pathway	0.77

NFAT and Cardiac Hypertrophy

	NFAT and Cardiac Hypertrophy	1.00			IGF1R Signaling	0.37
	Signaling Involved in Cardiac Hypertrophy	0.42

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for CACNA1F

	Synaptic transmission- ion currents
	Transcription CREB pathway
	Calcium channels

5/37 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CACNA1F (see all 37)

	Caspase Cascade
	Fc-GammaR Pathway
	Intracellular Calcium Signaling
	PDGF Pathway
	BMP Pathway

1 GeneGo (Thomson Reuters) Pathway for CACNA1F

Transcription CREB pathway

2 BioSystems Pathways for CACNA1F

	Alzheimers Disease
	Arrhythmogenic right ventricular cardiomyopathy

2 PharmGKB Pathways for CACNA1F

	Celecoxib Pathway, Pharmacodynamics
	Valproic Acid Pathway, Pharmacodynamics

5/10 Kegg Pathways (Kegg details for CACNA1F) (see all 10):

	MAPK signaling pathway
	Calcium signaling pathway
	Cardiac muscle contraction
	Vascular smooth muscle contraction
	Cholinergic synapse

CACNA1F for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CACNA1F

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/49 Interacting proteins for CACNA1F (O60840³ ENSP00000365441⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 49)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FYN	P06241³, ENSP00000357656⁴	I2D: score=1 STRING: ENSP00000357656
CABP4	P57796³, ENSP00000324960⁴	I2D: score=2 STRING: ENSP00000324960
CACNA1C	ENSP00000266376⁴	STRING: ENSP00000266376
CACNA1D	ENSP00000288139⁴	STRING: ENSP00000288139
CACNA1G	ENSP00000352011⁴	STRING: ENSP00000352011

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006874	cellular calcium ion homeostasis	IEA	--
GO:0007409	axonogenesis	--	--
GO:0007411	axon guidance	TAS	--
GO:0007601	visual perception	IMP	9662400
GO:0048813	dendrite morphogenesis	IEA	--

CACNA1F for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CACNA1F for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for CACNA1F available from Tocris Bioscience About this table

Compound	Action	CAS #
FPL 64176	Potent activator of Ca2+ channels (L-type)	[120934-96-5]
Nimodipine	Ca2+ channel blocker (L-type)	[66085-59-4]
(S)-(-)-Bay K 8644	Ca2+-channel activator (L-type)	[98625-26-4]
(�)-Bay K 8644	Ca2+-channel activator (L-type)	[71145-03-4]
Isradipine	Ca2+ channel blocker (L-type)	[75695-93-1]

2 HMDB Compounds for CACNA1F About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--
Verapamil	Akilen (see all 107)	52-53-9	--

4 DrugBank Compounds for CACNA1F About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Nimodipine	Nimodipino [INN-Spanish] (see all 2)	66085-59-4	target	inhibitor	20335610 20334460 19844625 20661350
Mibefradil	--	116644-53-2	target	inhibitor	10372226 10665814 16899990
Cinnarizine	--	298-57-7	target	inhibitor	3530295 1281221
Verapamil	Verapamil [Usan:Ban:Inn] (see all 4)	52-53-9	target	inhibitor	19125880

1 Novoseek chemical compound relationship for CACNA1F gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
calcium	47	13	11078833 (1), 11526344 (1), 12719097 (1), 14973233 (1) (see all 12)

Search CenterWatch for drugs/clinical trials and news about CACNA1F / CAC1F

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CACNA1F gene (3 alternative transcripts):

NM_001256789.1 NM_001256790.1 NM_005183.2

Unigene Cluster for CACNA1F:

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

Hs.632799 [show with all ESTs]

Unigene Representative Sequence: NM_005183

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000376251 ENST00000323022(uc010nip.3) ENST00000376265(uc004dnb.3)

ENST00000486943 ENST00000481035 ENST00000480889

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Additional cDNA sequence:

AF067227.1 AF201304.1 AJ224874.1 JF701915.1

6 DOTS entries:

DT.40280271 DT.100745280 DT.92069916 DT.100738011 DT.100745281 DT.101961842

24 AceView cDNA sequences:

CK301055 BM703915 AF201304 BM932223 CD369408 AF067227 AL712794 BX099776

NM_005183 BQ636841 AJ224874 BM684979 BM681368 BM728193 CD369391 BM685216

BQ186213 BF847103 AA317815 BU619350 AA019974 BM931932 BX642510 AA019975

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CACNA1F expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GACCACAAAA

About this image

CACNA1F expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

Type1 Off Cone Bipolar Cells

Bipolar, Retina

Eye

Outer Nuclear Layer

Mature Rod Cells

Photoreceptors, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CACNA1F Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CACNA1F

SOURCE GeneReport for Unigene cluster: Hs.632799

UniProtKB/Swiss-Prot: CAC1F_HUMAN, O60840

Tissue specificity: Expression in skeletal muscle and retina

SABiosciences Expression via Pathway-Focused PCR Array including CACNA1F:

T Helper Cell Differentiation in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CACNA1F

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CACNA1F gene from 4/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	CACNA1F⁶	--	68(a)	1 ↔ 1	2(88973447-89061105)
zebrafish (Danio rerio)	Actinopterygii	LOC559964¹	novel protein similar to vertebrate voltage-dependent more	68.35(n) 73.84(a)		559964 XM_003199086.1 XP_003199134.1
fruit fly (Drosophila melanogaster)	Insecta	Ca-alpha1D³	epithelial fluid transport voltage-gated calcium more	60(a)		--
worm (Caenorhabditis elegans)	Secernentea	egl-19³	Expression: neurons, preanal ganglion, ring neurons, more	57(a) (best of 2)		IV(7405770-7418097) --

ENSEMBL Gene Tree for CACNA1F (if available)
TreeFam Gene Tree for CACNA1F (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for CACNA1F gene

CACNA1A² SCN5A² SCN9A² CACNA1D² CACNA1I² SCN7A² SCN8A² CACNA1G²

SCN10A² SCN3A² CACNA1E² SCN2A² CACNA1S² CACNA1C² CACNA1H² SCN11A²

SCN4A² SCN1A² CACNA1B²

9 SIMAP similar genes for CACNA1F using alignment to 3 protein entries: CAC1F_HUMAN (see all proteins):

SCN5A CACNA1D CACNA1S CACNA1C TPCN1 SCN4A

CACNA1A CACNA1E CACNA1B

CACNA1F for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs113225525^1,2	C	--	46747060(+)	`TCGTCC/GGAGGC`	1	--	us2k¹		1		CSA	1
rs60924616^1,2	C	--	46747578(+)	`GAGACA/GGAGTC`	1	--	us2k¹		2		WA CSA	3
rs180680177^1,2		--	49061026(+)	`CAGAGC/TGATCT`	3	--	int¹ ds500¹		0	--	--	--	--
rs186149714^1,2		--	49061167(+)	`TCCTTC/GTCATC`	3	--	int¹ ds500¹		0	--	--	--	--
rs190916572^1,2		--	49061172(+)	`CTCATA/CCGTCT`	3	--	int¹ ds500¹		0	--	--	--	--
rs181220347^1,2		--	49061258(+)	`ACACCC/TGCTCT`	3	--	int¹ ds500¹		0	--	--	--	--
rs138189763^1,2	C,F	--	49061669(+)	`TCCTCG/ATCGCT`	6	/D	syn¹		1		NA	4540
rs77269121^1,2	F	--	49061678(+)	`CTATAG/CAGAGA`	6	/L	syn¹		1		NA	4
rs190606884^1,2	C	--	49061735(+)	`TCCAGC/TGTCAG`	6	T	syn¹		0	--	--	--	--
rs33910054^1,2	C,F,H	--	49061742(-)	`GTGTCG/ACCTGA`	6	/H /R	mis¹		14		NS EA NA	6370

HapMap Linkage Disequilibrium report for CACNA1F (49061523 - 49089833 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for CACNA1F
3 CNVs: 0824 2278 7789
Human Gene Mutation Database (HGMD): CACNA1F

Locus Specific Mutation Databases (LSDB): CACNA1F

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CACNA1F

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CACNA1F for disorders           About GeneDecksing

OMIM gene information: 300110
OMIM disorders: 300071  300476  300600
UniProtKB/Swiss-Prot: CAC1F_HUMAN, O60840

Defects in CACNA1F are the cause of congenital stationary night blindness type 2A (CSNB2A) [MIM:300071].

Congenital stationary night blindness is a non-progressive retinal disorder characterized by impaired night vision

Defects in CACNA1F are the cause of cone-rod dystrophy X-linked type 3 (CORDX3) [MIM:300476]. CORDs are

inherited retinal dystrophies belonging to the group of pigmentary retinopathies. CORDs are 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

Defects in CACNA1F are the cause of Aaland island eye disease (AIED) [MIM:300600]; also known as

Forsius-Eriksson type ocular albinism. On the Aaland island in the Baltic Sea, AIED is an X-linked recessive 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

15 diseases for CACNA1F: About MalaCards

aland island eye disease ocular albinism albinism eye disease

congenital stationary night blindness x-linked congenital stationary night blindness night blindness cone-rod dystrophy

blindness fundus albipunctatus retinitis pigmentosa retinitis

retinal disease neuronitis schizophrenia

7 diseases from the University of Copenhagen DISEASES database for CACNA1F:

Congenital stationary night blindness Aland Island eye disease Myopia Hereditary night blindness

Hyperopia Astigmatism Fundus albipunctatus

7 Novoseek disease relationships for CACNA1F gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
csnb2	99	35	20238058 (3), 15584351 (2), 9662400 (2), 16960802 (2) (see all 19)
night blindness, congenital stationary	97.9	18	12719097 (2), 10900517 (1), 12860808 (1), 16505158 (1) (see all 16)
csnb1	92.9	4	15584351 (1), 15583843 (1), 12187427 (1), 12610835 (1)
oguchis disease	89.7	1	15584351 (1)
night blindness	85.3	2	11078833 (1), 20238058 (1)
retinopathy	61.5	7	15807819 (2), 16505158 (1), 12719097 (1), 11890456 (1) (see all 6)
atrophy	6.37	6	12860808 (2), 12208270 (1)

GeneTests: CACNA1F

Congenital Stationary Night Blindness, X-Linked

Genetic Association Database (GAD): CACNA1F
Human Genome Epidemiology (HuGE) Navigator: CACNA1F (3 documents)

Export disorders for CACNA1F gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for CACNA1F gene, integrated from 9 sources (see all 72):
(articles sorted by number of sources associating them with CACNA1F)

Utopia: connect your pdf to the dynamic
world of online information

A novel CACNA1F gene mutation causes Aland Island eye disease. (PubMed id 17525176)^{1, 2, 3, 9} Jalkanen R.... Alitalo T. (2007)
Loss-of-function mutations in a calcium-channel alpha 1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. (PubMed id 9662400)^{1, 2, 3, 9} Bech-Hansen N.T....Boycott K.M. (1998)
Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. (PubMed id 12111638)^{1, 2, 3} Wutz K.... Pusch C.M. (2002)
Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp. (PubMed id 9344658)^{1, 2, 3} Fisher S.E.... Craig I.W. (1997)
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. (PubMed id 16505158)^{1, 2, 9} Jalkanen R.... Bech-Hansen N.T. (2006)
Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family. (PubMed id 12860808)^{1, 4, 9} Nakamura M....Miyake Y. (2003)
A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation. (PubMed id 15897456)^{1, 2, 9} Hemara-Wahanui A.... Maw M.A. (2005)
Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. (PubMed id 16960802)^{1, 2, 9} Zeitz C.... Berger W. (2006)
Isolation and characterization of a calcium channel gene, cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness. (PubMed id 10873387)^{1, 2, 9} Naylor M.J.... Bech-Hansen N.T. (2000)
Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture). (PubMed id 12187427)^{1, 2, 9} Weleber R.G. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 778	HGNC: 1393	AceView: CACNA1F	Ensembl:ENSG00000102001	euGenes: HUgn778
ECgene: CACNA1F	Kegg: 778	H-InvDB: CACNA1F

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CACNA1F	Pharmacogenomics, SNPs, Pathways
Mutations of the CCNA1F gene	http://www.retina-international.org/files/sci-news/cacnamut.htm

Intellectual Property for CACNA1F gene
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Patent Information for CACNA1F gene:
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GeneCards and IP:
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CACNA1F Gene

calcium channel, voltage-dependent, L type, alpha 1F subunit

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

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CACNA1F Gene

calcium channel, voltage-dependent, L type, alpha 1F subunit

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