Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	778
Gene name Gene Name - the full gene name approved by the HGNC.	Calcium voltage-gated channel subunit alpha1 F
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CACNA1F
Synonyms (NCBI Gene) Gene synonyms aliases	AIED, COD3, COD4, CORDX, CORDX3, CSNB2, CSNB2A, CSNBX2, Cav1.4, Cav1.4alpha1, JM8, JMC8, OA2
Disease Acronyms (UniProt) Disease acronyms from UniProt database	AIED, COD3, COD4, CORDX3, CSNB2A
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xp11.23
Summary Summary of gene provided in NCBI Entrez 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

Show/Hide all(52)

SNP ID	Visualize variation	Clinical significance	Consequence
rs80359870	->G	Pathogenic	Coding sequence variant, frameshift variant
rs122456133	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs122456134	G>A	Pathogenic	Coding sequence variant, stop gained
rs122456135	G>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs122456136	A>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs138447882	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs141010716	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, genic upstream transcript variant
rs144131971	G>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs149685267	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs781923856	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs782362725	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs782575860	C>T	Pathogenic	Intron variant, genic upstream transcript variant, splice donor variant
rs782581701	G>A	Pathogenic	Stop gained, coding sequence variant
rs782740998	G>A	Pathogenic	Stop gained, coding sequence variant
rs797044676	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant, genic upstream transcript variant
rs863223294	GACGC>CCA	Pathogenic	Splice acceptor variant, coding sequence variant
rs863225090	C>T	Pathogenic	Missense variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs879255389	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs886039559	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs886039560	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant, genic upstream transcript variant
rs886041479	C>-	Pathogenic	Splice acceptor variant, coding sequence variant, genic upstream transcript variant
rs886044841	C>T	Pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant
rs1057516199	T>C	Likely-pathogenic	Splice acceptor variant
rs1057518829	T>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1057523895	T>G	Likely-pathogenic	Splice acceptor variant
rs1064794711	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064797371	C>T	Likely-pathogenic	Splice donor variant
rs1085307529	G>A,C,T	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, intron variant
rs1358925739	T>C	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1365490247	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant, genic upstream transcript variant
rs1557105474	CA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1557106008	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1557106557	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1557107192	TG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1557107417	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1557108147	C>T	Likely-pathogenic	Splice donor variant
rs1557109796	TCGGC>-	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557109912	CTCACAGGCAGCGTGTACAGCTGGCCAGAGCCCCCTCC>-	Likely-pathogenic	Intron variant, genic upstream transcript variant, coding sequence variant, splice donor variant
rs1557110046	->A	Likely-pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1557110192	G>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557110499	AAG>-	Pathogenic, likely-pathogenic	Genic upstream transcript variant, inframe deletion, coding sequence variant
rs1557110988	G>A	Likely-pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1602627593	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1602628429	C>T	Likely-pathogenic	Intron variant
rs1602630650	C>T	Pathogenic	Coding sequence variant, stop gained
rs1602639528	AT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602639607	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602641426	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, upstream transcript variant, stop gained
rs1602644716	A>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1602653110	T>C	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1602653742	C>T	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1602658505	->GCCACTG	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant

Show/Hide all(16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IBA	21873635
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	15897456, 27226626
GO:0005886	Component	Plasma membrane	TAS
GO:0005891	Component	Voltage-gated calcium channel complex	IDA	15897456
GO:0006816	Process	Calcium ion transport	IBA	21873635
GO:0007601	Process	Visual perception	IMP	9662399, 9662400, 16505158
GO:0008331	Function	High voltage-gated calcium channel activity	IBA	21873635
GO:0016021	Component	Integral component of membrane	IDA	15897456
GO:0034765	Process	Regulation of ion transmembrane transport	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050908	Process	Detection of light stimulus involved in visual perception	IMP
GO:0061337	Process	Cardiac conduction	TAS
GO:0070509	Process	Calcium ion import	IBA	21873635
GO:0070588	Process	Calcium ion transmembrane transport	IEA

MIM	HGNC	e!Ensembl
300110	1393	ENSG00000102001

Protein

UniProt ID

O60840

Protein name

Voltage-dependent L-type calcium channel subunit alpha-1F (Voltage-gated calcium channel subunit alpha Cav1.4)

Protein 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, g

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	91 → 383	Ion transport protein	Family
PF00520	Ion_trans	528 → 768	Ion transport protein	Family
PF00520	Ion_trans	870 → 1148	Ion transport protein	Family
PF00520	Ion_trans	1189 → 1452	Ion transport protein	Family
PF16905	GPHH	1461 → 1514	Voltage-dependent L-type calcium channel, IQ-associated	Family
PF08763	Ca_chan_IQ	1524 → 1598	Voltage gated calcium channel IQ domain	Domain
PF16885	CAC1F_C	1619 → 1976	Voltage-gated calcium channel subunit alpha, C-term	Family

Tissue specificity

TISSUE SPECIFICITY: Expression in skeletal muscle and retina (PubMed:10873387). Isoform 4 is expressed in retina (PubMed:27226626). {ECO:0000269|PubMed:10873387, ECO:0000269|PubMed:27226626}.

Sequence

MSESEGGKDTTPEPSPANGAGPGPEWGLCPGPPAVEGESSGASGLGTPKRRNQHSKHKTV
AVASAQRSPRALFCLTLANPLRRSCISIVEWKPFDILILLTIFANCVALGVYIPFPEDDS
NTANHNLEQVEYVFLVIFTVETVLKIVAYGLVLHPSAYIRNGWNLLDFIIVVVGLFSVLL
EQGPGRPGDAPHTGGKPGGFDVKALRAFRVLRPLRLVSGVPSLHIVLNSIMKALVPLLHI
ALLVLFVIIIYAIIGLELFLGRMHKTCYFLGSDMEAEEDPSPCASSGSGRACTLNQTECR
GRWPGPNGGITNFDNFFFAMLTVFQCVTMEGWTDVLYWMQDAMGYELPWVYFVSLVIFGS
FFVLNLVLGVLSGEFSKEREKAKARGDFQKQREKQQMEEDLRGYLDWITQAEELDMEDPS
ADDNLGSMAEEGRAGHRPQLAELTNRRRGRLRWFSHSTRSTHSTSSHASLPASDTGSMTE
TQGDEDEEEGALASCTRCLNKIMKTRVCRRLRRANRVLRARCRRAVKSNACYWAVLLLVF
LNTLTIASEHHGQPVWLTQIQEYANKVLLCLFTVEMLLKLYGLGPSAYVSSFFNRFDCFV
VCGGILETTLVEVGAMQPLGISVLRCVRLLRIFKVTRHWASLSNLVASLLNSMKSIASLL
LLLFLFIIIFSLLGMQLFGGKFNFDQTHTKRSTFDTFPQALLTVFQILTGEDWNVVMYDG
IMAYGGPFFPGMLVCIYFIILFICGNYILLNVFLAIAVDNLASGDAGTAKDKGGEKSNEK
DLPQENEGLVPGVEKEEEEGARREGADMEEEEEEEEEEEEEEEEEGAGGVELLQEVVPKE
KVVPIPEGSAFFCLSQTNPLRKGCHTLIHHHVFTNLILVFIILSSVSLAAEDPIRAHSFR
NHILGYFDYAFTSIFTVEILLKMTVFGAFLHRGSFCRSWFNMLDLLVVSVSLISFGIHSS
AISVVKILRVLRVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIMIVTTLLQFMFACIGVQ
LFKGKFYTCTDEAKHTPQECKGSFLVYPDGDVSRPLVRERLWVNSDFNFDNVLSAMMALF
TVSTFEGWPALLYKAIDAYAEDHGPIYNYRVEISVFFIVYIIIIAFFMMNIFVGFVIITF
RAQGEQEYQNCELDKNQRQCVEYALKAQPLRRYIPKNPHQYRVWATVNSAAFEYLMFLLI
LLNTVALAMQHYEQTAPFNYAMDILNMVFTGLFTIEMVLKIIAFKPKHYFTDAWNTFDAL
IVVGSIVDIAVTEVNNGGHLGESSEDSSRISITFFRLFRVMRLVKLLSKGEGIRTLLWTF
IKSFQALPYVALLIAMIFFIYAVIGMQMFGKVALQDGTQINRNNNFQTFPQAVLLLFRCA
TGEAWQEIMLASLPGNRCDPESDFGPGEEFTCGSNFAIAYFISFFMLCAFLIINLFVAVI
MDNFDYLTRDWSILGPHHLDEFKRIWSEYDPGAKGRIKHLDVVALLRRIQPPLGFGKLCP
HRVACKRLVAMNMPLNSDGTVTFNATLFALVRTSLKIKTEGNLEQANQELRIVIKKIWKR
MKQKLLDEVIPPPDEEEVTVGKFYATFLIQDYFRKFRRRKEKGLLGNDAAPSTSSALQAG
LRSLQDLGPEMRQALTCDTEEEEEEGQEGVEEEDEKDLETNKATMVSQPSARRGSGISVS
LPVGDRLPDSLSFGPSDDDRGTPTSSQPSVPQAGSNTHRRGSGALIFTIPEEGNSQPKGT
KGQNKQDEDEEVPDRLSYLDEQAGTPPCSVLLPPHRAQRYMDGHLVPRRRLLPPTPAGRK
PSFTIQCLQRQGSCEDLPIPGTYHRGRNSGPNRAQGSWATPPQRGRLLYAPLLLVEEGAA
GEGYLGRSSGPLRTFTCLHVPGTHSDPSHGKRGSADSLVEAVLISEGLGLFARDPRFVAL
AKQEIADACRLTLDEMDNAASDLLAQGTSSLYSDEESILSRFDEEDLGDEMACVHAL

Sequence length

1977

Interactions

View interactions

	KEGG		Reactome
	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Vascular smooth muscle contraction Retrograde endocannabinoid signaling Cholinergic synapse Serotonergic synapse GABAergic synapse Insulin secretion GnRH signaling pathway Oxytocin signaling pathway Renin secretion Aldosterone synthesis and secretion Cortisol synthesis and secretion GnRH secretion Cushing syndrome Growth hormone synthesis, secretion and action Alzheimer disease Prion disease Pathways of neurodegeneration - multiple diseases Chemical carcinogenesis - receptor activation Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Dilated cardiomyopathy		Phase 0 - rapid depolarisation Phase 2 - plateau phase

Show/Hide Causal Diseases (9)

Disease term	Disease name	dbSNP ID	References
Causal
Ocular albinism	�land Islands eye disease, Ocular albinism, type II	rs137852296, rs137852297, rs62635018, rs62645741, rs281865178, rs281865183, rs281865184, rs672601353, rs1057518841, rs1057518763, rs1057518787	30718709, 26350204, 22194652, 17525176
Albinism	Albinism	rs28940876, rs387906560, rs62635045, rs140365820, rs141949212, rs1384042381, rs62635042
Cone-rod dystrophy	Cone-Rod Dystrophy 2, Cone rod dystrophy, CONE-ROD DYSTROPHY, X-LINKED, 3, Cone-Rod Dystrophies	rs200691042, rs121908281, rs28940314, rs121434337, rs80338903, rs121909398, rs28937883, rs397515360, rs137853006, rs786205085, rs137853040, rs137853041, rs786205086, rs104894671, rs1568626209 View all (207 more)	16505158, 26992781, 26350204
Congenital stationary night blindness	Cone-rod synaptic disorder, congenital nonprogressive, Congenital stationary night blindness	rs786205249, rs80338903, rs62638214, rs62638624, rs62638202, rs62638197, rs766862238, rs267607140, rs267607141, rs62638191, rs62638193, rs62637021, rs62637027, rs104894910, rs104894911 View all (100 more)
Myopia	Myopia, Severe myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Progressive cone dystrophy	Progressive cone dystrophy (without rod involvement)	rs61750173, rs61755783, rs764759172, rs1557106557, rs1306231185, rs536742386, rs1402837406, rs781339303	30718709
Retinal dystrophy	Retinal Dystrophies	rs267606794, rs200691042, rs397704718, rs202193201, rs794728002, rs121965036, rs121965057, rs121918129, rs137853190, rs386834252, rs121918165, rs137853113, rs137853114, rs121918328, rs587777803 View all (2328 more)	25307992
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	16650384

Show/Hide Unknown Diseases (4)

Disease term	Disease name	Source
Unknown
Congenital stationary night blindness, x-linked	X-Linked Csnb	ClinVar
Cone Dystrophy	cone-rod dystrophy	GenCC
Cone Dystrophy, X-linked	X-linked cone-rod dystrophy 3	GenCC
Retinal Dystrophy	inherited retinal dystrophy	GenCC

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text Mining
Aland Island Eye Disease	Associate	22194652, 28002560, 33513752
Astigmatism	Associate	16505158
Atrophy	Associate	40269797
Colorectal Neoplasms	Associate	31724326
Cone Rod Dystrophies	Associate	16505158, 23776498, 24124559
Cone Rod Dystrophy 3	Associate	24124559
Cone Rod Dystrophy X Linked 2	Associate	16505158, 36165086
Cone Rod Dystrophy X Linked 3	Associate	28002560
Hyperopia	Associate	28751151
Hypokalemic Periodic Paralysis	Associate	15098604
Leber Congenital Amaurosis	Associate	29062221, 36165086
Mesenteric Vascular Occlusion	Associate	36883376
Moyamoya Disease	Associate	36883376
Multiple Sclerosis	Associate	36232761
Myopia	Associate	22194652, 28751151, 35567543, 37191617, 38243264
Night Blindness	Associate	30355583, 40269797
Night blindness congenital stationary	Associate	14609846, 15761389, 15897456, 19578023, 21920492, 22194652, 22277662, 24796500, 26234941, 28002560, 29062221, 30186847, 30355583, 32013026, 33037074 View all (9 more)
Night blindness congenital stationary	Stimulate	16505158
Nystagmus Pathologic	Associate	28002560, 40269797
O'Donnell Pappas syndrome	Associate	22194652, 28002560
Photophobia	Associate	22194652
Refsum Disease Infantile	Associate	36165086
Retinal Diseases	Associate	15897456, 37191617, 38160664, 40269797
Retinal Dystrophies	Associate	28751151, 32013026, 35567543
Retinitis	Associate	16505158
Retinitis Pigmentosa	Associate	21920492, 25999675, 26075273, 26436388
Retinitis Pigmentosa 2	Associate	26075273
Strabismus	Associate	38243264
Vision Disorders	Associate	15897456, 8933343
X Linked Infantile Nystagmus	Associate	28378818

CACNA1F (calcium voltage-gated channel subunit alpha1 F)