CACNA1C - calcium voltage-gated channel subunit alpha1 C Gene

Also Known as TS; LQT8; CACH2; CACN2; CaV1.2; CCHL1A1; NEDHLSS; CACNL1A1; TS. LQT8

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 775

About CACNA1C

Cytogenetic location: 12p13.33 Genomic coordinates (GRCh38): 12:1,970,780-2,697,950 (from NCBI)

This gene has 51 transcripts (splice variants), 1 gene allele, 212 orthologues, 26 paralogues and is associated with 8 phenotypes. Broad expression in endometrium (RPKM 5.2), heart (RPKM 4.5) and 19 other tissues.

Summary

This gene encodes an alpha-1 subunit of a voltage-dependent Calcium Channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The Calcium Channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]

CACNA1C Products (23)

mRNA	Protein	Name
NM_000719.7	NP_000710.5	voltage-dependent L-type calcium channel subunit alpha-1C isoform 18
NM_001129827.2	NP_001123299.1	voltage-dependent L-type calcium channel subunit alpha-1C isoform 2
NM_001129829.2	NP_001123301.1	voltage-dependent L-type calcium channel subunit alpha-1C isoform 3
NM_001129830.3	NP_001123302.2	voltage-dependent L-type calcium channel subunit alpha-1C isoform 4
NM_001129831.2	NP_001123303.1	voltage-dependent L-type calcium channel subunit alpha-1C isoform 5
NM_001129832.2	NP_001123304.1	voltage-dependent L-type calcium channel subunit alpha-1C isoform 6
NM_001129833.2	NP_001123305.1	voltage-dependent L-type calcium channel subunit alpha-1C isoform 7
NM_001129834.2	NP_001123306.1	voltage-dependent L-type calcium channel subunit alpha-1C isoform 8
NM_001129835.2	NP_001123307.1	voltage-dependent L-type calcium channel subunit alpha-1C isoform 9
NM_001129836.2	NP_001123308.1	voltage-dependent L-type calcium channel subunit alpha-1C isoform 10
NM_001129837.2	NP_001123309.1	voltage-dependent L-type calcium channel subunit alpha-1C isoform 11
NM_001129838.2	NP_001123310.1	voltage-dependent L-type calcium channel subunit alpha-1C isoform 12
NM_001129839.2	NP_001123311.1	voltage-dependent L-type calcium channel subunit alpha-1C isoform 13
NM_001129840.2	NP_001123312.1	voltage-dependent L-type calcium channel subunit alpha-1C isoform 14
NM_001129841.2	NP_001123313.1	voltage-dependent L-type calcium channel subunit alpha-1C isoform 15
NM_001129842.2	NP_001123314.1	voltage-dependent L-type calcium channel subunit alpha-1C isoform 16
NM_001129843.2	NP_001123315.1	voltage-dependent L-type calcium channel subunit alpha-1C isoform 17
NM_001129844.2	NP_001123316.1	voltage-dependent L-type calcium channel subunit alpha-1C isoform 19
NM_001129846.2	NP_001123318.1	voltage-dependent L-type calcium channel subunit alpha-1C isoform 20
NM_001167623.2	NP_001161095.1	voltage-dependent L-type calcium channel subunit alpha-1C isoform 21
NM_001167624.3	NP_001161096.2	voltage-dependent L-type calcium channel subunit alpha-1C isoform 22
NM_001167625.2	NP_001161097.1	voltage-dependent L-type calcium channel subunit alpha-1C isoform 23
NM_199460.4	NP_955630.3	voltage-dependent L-type calcium channel subunit alpha-1C isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables alpha-actinin binding	IPI IPI: Inferred from physical interaction	17110593	GOA
enables calmodulin binding	IPI IPI: Inferred from physical interaction	15140941	GOA
enables high voltage-gated calcium channel activity	IDA IDA: Inferred from direct assay	15454078	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11438518	GOA
enables voltage-gated calcium channel activity	IDA IDA: Inferred from direct assay	7737988	GOA
enables voltage-gated calcium channel activity	IMP IMP: Inferred from mutant phenotype	8099908	GOA
enables voltage-gated calcium channel activity involved in AV node cell action potential	IMP IMP: Inferred from mutant phenotype	26253506	GOA
contributes to voltage-gated calcium channel activity involved in cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	17224476	GOA
enables voltage-gated calcium channel activity involved in cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	15454078	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in calcium ion transmembrane transport	IDA IDA: Inferred from direct assay	15454078	GOA
involved in calcium ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	24728418	GOA
involved in calcium ion transmembrane transport via high voltage-gated calcium channel	IDA IDA: Inferred from direct assay	15454078	GOA
involved in calcium ion transmembrane transport via high voltage-gated calcium channel	IMP IMP: Inferred from mutant phenotype	30023270	GOA
involved in camera-type eye development	IMP IMP: Inferred from mutant phenotype	15454078	GOA
involved in cardiac conduction	IMP IMP: Inferred from mutant phenotype	24728418	GOA
involved in cardiac muscle cell action potential involved in contraction	IMP IMP: Inferred from mutant phenotype	15454078	GOA
involved in embryonic forelimb morphogenesis	IMP IMP: Inferred from mutant phenotype	15454078	GOA
involved in heart development	IMP IMP: Inferred from mutant phenotype	15454078	GOA
involved in immune system development	IMP IMP: Inferred from mutant phenotype	15454078	GOA
involved in membrane depolarization during AV node cell action potential	IMP IMP: Inferred from mutant phenotype	26253506	GOA
involved in membrane depolarization during atrial cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	17224476	GOA
involved in membrane depolarization during cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	15454078	GOA
involved in positive regulation of cytosolic calcium ion concentration	IDA IDA: Inferred from direct assay	12130699	GOA
involved in regulation of heart rate by cardiac conduction	IMP IMP: Inferred from mutant phenotype	15454078	GOA
involved in regulation of ventricular cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	15454078	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of L-type voltage-gated calcium channel complex	IDA IDA: Inferred from direct assay	15454078	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	11206130	GOA
located in membrane	IDA IDA: Inferred from direct assay	8392192	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	11206130	GOA
located in postsynaptic density	IDA IDA: Inferred from direct assay	14140941	GOA
part of voltage-gated calcium channel complex	IDA IDA: Inferred from direct assay	12130699	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CACNA1C Protein Structure

Ion_trans

Ca_chan_IQ

0
400
800
1200
1600
2000
2186 a.a.

Protein Preferred Names	Protein Names
voltage-dependent L-type calcium channel subunit alpha-1C	DHPR, alpha-1 subunit

CACNA1C Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CACNA1C	Q13936	SEMA4C	Homo sapiens	Q9C0C4	Anti Bait CoIP	37207277
Intra	CACNA1C	Q13936	PCDHB5	Homo sapiens	Q9Y5E4	Anti Bait CoIP	37207277
Intra	CACNA1C	Q13936	PDE4B	Homo sapiens	Q07343	Anti Bait CoIP	37207277
Intra	CACNA1C	Q13936	CACNB3	Homo sapiens	P54284	Anti Bait CoIP	37207277
Intra	CACNA1C	Q13936	CACNB3	Homo sapiens	P54284	Anti Tag CoIP	18535142
Intra	CACNA1C	Q13936	CACNB1	Homo sapiens	Q02641-1	Anti Tag CoIP	18535142
Intra	CACNA1C	Q13936	PCDHA2	Homo sapiens	Q9Y5H9	Anti Bait CoIP	37207277
Intra	CACNA1C	Q13936	MSI2	Homo sapiens	Q96DH6	Anti Bait CoIP	37207277
Intra	CACNA1C	Q13936	MEF2C	Homo sapiens	Q06413	Anti Bait CoIP	37207277
Intra	CACNA1C	Q13936	HNRNPA2B1	Homo sapiens	P22626	Anti Bait CoIP	37207277
Intra	CACNA1C	Q13936	KIAA1549	Homo sapiens	Q9HCM3	Anti Bait CoIP	37207277
Intra	CACNA1C	Q13936	NSG1	Homo sapiens	P42857	Anti Bait CoIP	37207277
Intra	CACNA1C	Q13936	FXR1	Homo sapiens	P51114	Anti Bait CoIP	37207277
Intra	CACNA1C	Q13936	RALY	Homo sapiens	Q9UKM9	Anti Bait CoIP	37207277
Intra	CACNA1C	Q13936	PICK1	Homo sapiens	Q9NRD5	Anti Bait CoIP	37207277
Intra	CACNA1C	Q13936	APLP2	Homo sapiens	Q06481	Anti Bait CoIP	37207277
Intra	CACNA1C	Q13936	SF3B1	Homo sapiens	O75533	Anti Bait CoIP	37207277
Intra	CACNA1C	Q13936	C3	Homo sapiens	P01024	Anti Bait CoIP	37207277
Intra	CACNA1C	Q13936	CABP1	Homo sapiens	Q9NZU7	Anti Tag CoIP	15140941
Intra	CACNA1C	Q13936	CABP1	Homo sapiens	Q9NZU7	Pull Down	15140941
Cross	CACNA1C	Q13936	Calm1	Rattus norvegicus	P0DP29	Anti Tag CoIP	18535142

Cross: Cross-species interaction Intra: Intraspecies interaction

CACNA1C Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P89875	L-type Ca++ CP α1C Antibody (YA9219)	WB, ICC/IF, IF-Tissue, IP, ELISA	human

Related Diseases

Diseases	Alias
Timothy Syndrome	Long Qt Syndrome With Syndactyly TS Lqt8 Long Qt Syndrome 8 Long Qt Syndrome Type 8 Long Qt Syndrome-Syndactyly Syndrome
Long Qt Syndrome 8	LQT8
Brugada Syndrome 3	BRGDA3 Brugada Syndrome, Type 3
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	NEDHLSS
Cacna1c-Related Disorders	Cacna1c-Related Disorder
Timothy Syndrome Type 1	Lqt8 Type 1 Ts1
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome
Brugada Syndrome	Sudden Unexpected Nocturnal Death Syndrome Sudden Unexplained Nocturnal Death Syndrome Bangungut Brugada Type Idiopathic Ventricular Fibrillation Pokkuri Death Syndrome Sunds Idiopathic Ventricular Fibrillation, Brugada Type Sudden Unexplained Death Dream Disease Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome Sudden Unexplained Death Syndrome Suds Sunds - [Sudden Unexplained Nocturnal Death Syndrome]
Long Qt Syndrome 1	Romano-Ward Syndrome LQT1 Ward-Romano Syndrome Rws Ventricular Fibrillation With Prolonged Qt Interval Wrs Long Qt Syndrome 1, Acquired, Susceptibility To Long Qt Syndrome 1, Acquired Romano-Ward Long Qt Syndrome Long Qt Syndrome Type 1 Long Qt Syndrome-1 Acquired Susceptibility To Long Qt Syndrome 1 Qt Syndrome, Long, Type 1
Ventricular Fibrillation, Paroxysmal Familial, 1	Paroxysmal Familial Ventricular Fibrillation Ivf Ventricular Fibrillation, Idiopathic Ventricular Fibrillation VF1 Vf Ventricular Fibrillation, Familial, 1 Paroxysmal Ventricular Fibrillation Idiopathic Ventricular Fibrillation Ventricular Fibrillation, Paroxysmal Familial, Type 1 Ventricular Fibrillation, Paroxysmal Familial Familial Paroxysmal Ventricular Fibrillation 1 Susceptibility To Ventricular Fibrillation During Myocardial Infarction Ventricular Fibrillation Adverse Event
Heart Conduction Disease	Conduction Disorder Of The Heart Heart Rhythm Disease
Schizotypal Personality Disorder	Schizotypal Personality
Cardiac Conduction Defect	Sudden Cardiac Death Cardiac Conduction Defect, Susceptibility To SCD Cardiac Conduction Abnormality Death Sudden Cardiac Cardiac Conduction Disease Conduction Disorder Of The Heart
Hypokalemic Periodic Paralysis, Type 1	Hypokalemic Periodic Paralysis Hokpp Hypopp Westphall Disease HOKPP1 Familial Hypokalemic Periodic Paralysis Familial Periodic Paralysis Westphal Disease Hypokalemic Periodic Paralysis Type 1 Hypokalemic Familial Periodic Paralysis Periodic Hypokalemic Paralysis Periodic Paralysis I Hypokpp Primary Hypokalemic Periodic Paralysis Periodic Paralysis Hypokalemic 1 Paralysis, Hypokalemic, Periodic Paralysis, Hypokalemic, Periodic, Type 1
Sick Sinus Syndrome	Sinus Node Dysfunction Sinus Node Disease Sinus Node Infection Snd Sss Snd - [Sinus Node Dysfunction] Sinoatrial Node Dysfunction Sss - [Sick Sinus Syndrome] Sick Sinus Sick Sinus Tachycardia
Cerebral Palsy	Infantile Cerebral Palsy Mixed Cerebral Palsy Palsy Cerebral Palsy, Cerebral Cerebral Palsy, Mixed
Right Bundle Branch Block	Right Bundle Branch Block With Left Posterior Fascicular Block
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric Septal Hypertrophy Familial Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy 1 CMH1 Hypertrophic Cardiomyopathy 19 CMH Ventricular Hypertrophy, Hereditary Ash Hypertrophic Subaortic Stenosis, Idiopathic Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Hypertrophic, 1, Digenic Cardiomyopathy, Familial Hypertrophic 1 Hcm Hereditary Ventricular Hypertrophy Idiopathic Hypertrophic Subaortic Stenosis Hypertrophic Cardiomyopathy Cardiomyopathy, Hypertrophic, Familial Cardiomyopathy, Hypertrophic, 1 Familial Asymmetric Septal Hypertrophy Heritable Hypertrophic Cardiomyopathy Fhc Cardiomyopathy, Hypertrophic, Familial, Type 1
Cardiac Arrhythmia, Ankyrin-B-Related	Long Qt Syndrome 4 Ankyrin-B Syndrome LQT4 Ankyrin-B-Related Cardiac Arrhythmia Sick Sinus Syndrome With Bradycardia Arrhythmia, Cardiac, Ankyrin B-Related
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Arrhythmogenic Right Ventricular Cardiomyopathy	Arrhythmogenic Right Ventricular Dysplasia Arvc Arvd Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Arvc Cardiomyopathy Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia Arvd/C Right Ventricular Dysplasia, Arrhythmogenic Ventricular Dysplasia, Right, Arrhythmogenic Cardiomyopathy, Ventricular, Right, Arrhythmogenic Dysplasia, Arrhythmogenic Right Ventricular
Short Qt Syndrome	Sqts Familial Short Qt Syndrome
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Sinoatrial Node Disease	Sa Node Sinuatrial Node Sinus Node Dysfunction
Personality Disorder	Personality Disorders Character Disorder Personality Specific Personality Disorders Enduring Personality Change After Psychiatric Illness
Long Qt Syndrome 2	LQT2 Long Qt Syndrome, Acquired, Reduced Susceptibility To Long Qt Syndrome 1/2 Long Qt Syndrome 2/3 Long Qt Syndrome 2/5 Long Qt Syndrome 2, Acquired, Susceptibility To Long Qt Syndrome, Acquired, Reduced Long Qt Syndrome Type 2 Long Qt Syndrome 2/9 Lqt1/2 Lqt2/3 Lqt2/5 Lqt2/9 Susceptibility To Acquired Long Qt Syndrome 2 Long Qt Syndrome-2 Qt Syndrome, Long, Type 2 Long Qt Syndrome 1-2 Long Qt Syndrome 2-3 Long Qt Syndrome 2-5 Long Qt Syndrome 9
Long Qt Syndrome 3	LQT3 Long Qt Syndrome Type 3 Long Qt Syndrome-3 Qt Syndrome, Long, Type 3
Andersen Cardiodysrhythmic Periodic Paralysis	Andersen Syndrome Andersen-Tawil Syndrome LQT7 Long Qt Syndrome 7 Ats Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type Long Qt Syndrome Type 7 Andersen Tawil Syndrome Potassium-Sensitive Cardiodysrhythmic Type Lqts Type 7 Long Qt Syndrome-7
Long Qt Syndrome 9	LQT9 Long Qt Syndrome-9 Qt Syndrome, Long, Type 9
Long Qt Syndrome 11	LQT11 Long Qt Syndrome-11 Qt Syndrome, Long, Type 11
Long Qt Syndrome 5	LQT5 Long Qt Syndrome 2/5 Lqt2/5 Susceptibility To Acquired Long Qt Syndrome 5 Long Qt Syndrome-5 Long Qt Syndrome 5, Acquired, Susceptibility To Qt Syndrome, Long, Type 5 Long Qt Syndrome 2-5
Catecholaminergic Polymorphic Ventricular Tachycardia	Cpvt Catecholamine-Induced Polymorphic Ventricular Tachycardia Familial Polymorphic Ventricular Tachycardia Malignant Paroxysmal Ventricular Tachycardia Multifocal Ventricular Premature Beats Stress-Induced Polymorphic Ventricular Tachycardia Bidirectional Tachycardia Induced By Catecholamine Double Tachycardia Induced By Catecholamines Polymorphic Catecholergic Ventricular Tachycardia Syncopal Paroxysmal Tachycardia Bidirectional Tachycardia Induced By Catecholamines Fpvt Bidirectional Ventricular Tachycardia Induced By Catecholamine Polymorphic Ventricular Tachycardia Induced By Catecholamines Ventricular Tachycardia, Catecholaminergic Polymorphic Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 Familial Ventricular Tachycardia Multifocal Pvcs Multifocal Premature Ventricular Beats
Bipolar Disorder	Bipolar Depression Manic Disorder Depression, Bipolar Bipolar Disorder Manic Phase Depressive-Manic Psych. Manic Bipolar Affective Disorder Manic Bipolar I Disorder Manic Depression Manic Depressive Disorder Mixed Bipolar Disorder Bipolar Affective Disorder Bipolar Affective Psychosis Bipolar Spectrum Disorder Manic Depressive Illness Depression Bipolar Bipolar Disorder, Mixed Major Affective Disorder Major Affective Disorder 1 Major Affective Disorder 2
Long Qt Syndrome 13	LQT13 Qt Syndrome, Long, Type 13
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Familial Periodic Paralysis	Genetic Periodic Paralysis Paralyses, Familial Periodic
Narcolepsy	Paroxysmal Sleep Gelineau Syndrome Narcoleptic Syndrome Narcolepsy-Cataplexy Syndrome Cataplexy And Narcolepsy Narcolepsy, Without Cataplexy Gelineau'S Syndrome Narcolepsy With Or Without Cataplexy Narcolepsy Nos
Immunodeficiency 10	Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2 Combined Immunodeficiency Due To Stim1 Deficiency IMD10 Stim1 Deficiency Cid Due To Stim1 Deficiency Immune Dysfunction, With T-Cell Inactivation Due To Calcium Entry Defect 2 Immunodeficiency, Type 10
T Cell And Nk Cell Immunodeficiency
Anhidrosis, Isolated, With Normal Sweat Glands	Isolated Anhidrosis With Normal Sweat Glands Dann-Epstein-Sohar Syndrome ANHD Isolated Generalized Anhidrosis With Normal Sweat Glands Anhidrosis, Familial Generalized, With Normal Sweat Glands
Jervell And Lange-Nielsen Syndrome 1	Jervell And Lange-Nielsen Syndrome Jervell-Lange Nielsen Syndrome Prolonged Qt Interval In Ekg And Sudden Death Cardioauditory Syndrome Of Jervell And Lange-Nielsen Surdo-Cardiac Syndrome JLNS1 Deafness, Congenital, And Functional Heart Disease Jlns Long Qt Interval-Deafness Syndrome Jervell And Lange-Nielson Syndrome Jervell Lange-Nielsen Syndrome Autosomal Recessive Long Qt Syndrome Cardio-Auditory-Syncope Syndrome Long Qt Interval-Hearing Loss Syndrome Congenital Deafness And Functional Heart Disease Long Qt Interval-Deafness
Episodic Ataxia, Type 2	Episodic Ataxia Type 2 EA2 Apca Capa Cerebellopathy, Hereditary Paroxysmal Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive Episodic Ataxia With Nystagmus Ataxia, Episodic, With Nystagmus Episodic Ataxia, Nystagmus-Associated Ataxia, Familial Paroxysmal Acetazolamide-Responsive Episodic Ataxia Syndrome Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia Ataxia, Familial, Paroxysmal Nystagmus-Associated Episodic Ataxia Familial Paroxysmal Ataxia Episodic Ataxia 2 Ea-2 Episodic Ataxia Nystagmus-Associated Hereditary Paroxysmal Cerebellopathy Ataxia, Episodic, Type 2
Atrioventricular Block	Av Block
Familial Hemiplegic Migraine	Hemiplegic Migraine, Familial Hemiplegic-Ophthalmoplegic Migraine Fhm Hemiplegic Migraine Familial
Intrinsic Cardiomyopathy
Cyclothymic Disorder	Cyclothymia Cycloid Personality Cyclothymic Personality Affective Personality Disorder Cyclothymic Personality Disorder Cycloid Personality Disorder
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Catecholaminergic Polymorphic Ventricular Tachycardia 1 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 CPVT1 Ventricular Tachycardia, Stress-Induced Polymorphic Vtsip Bidirectional Tachycardia Stress-Induced Polymorphic Ventricular Tachycardia Cvpt1 Double Tachycardia Induced By Catecholamines Malignant Paroxysmal Ventricular Tachycardia Multifocal Ventricular Premature Beats Paroxysmal Ventricular Fibrillation Syncopal Paroxysmal Tachycardia Syncopal Tachyarythmia Ventricular Tachycardia Catecholaminergic Polymorphic 1 Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 1 Multifocal Pvcs Multifocal Premature Ventricular Beats Paroxysmal Familial Ventricular Fibrillation Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Brugada Syndrome 4	BRGDA4 Brugada Syndrome, Type 4
Bipolar I Disorder	Manic Depression Nos Manic-Depressive Illness Bipolar Disorder Nos
Spinocerebellar Ataxia 6	Spinocerebellar Ataxia Type 6 SCA6 Type 6 Spinocerebellar Ataxia Spinocerebellar Ataxia-6 Ataxia, Spinocerebellar, Type 6
Fleck Retina, Familial Benign	FRFB Familial Benign Flecked Retina Familial Benign Fleck Retina
Pervasive Developmental Disorder	Pervasive Development Disorder Pervasive Developmental Disorders Pervasive Child Development Disorders Autistic Behavior Autism Spectrum Disorders
Inner Ear Disease	Labyrinthine Dysfunction Diseases Of Inner Ear Labyrinthine Disease Abnormality Of The Inner Ear Labyrinth Diseases Labyrinthine Disorder Nonfunctioning Labyrinth Labyrinthine Loss Of Function Labyrinthine Syndrome Labyrinthine Disorder Nos
Mental Depression	Depression Depressive Disorder
Familial Atrial Fibrillation	Atrial Fibrillation, Familial Atfb Atrial Fibrillation Autosomal Dominant Autosomal Dominant Atrial Fibrillation Auricular Fibrillation Atrial Fibrillation Atrial Fibrillation, Familial, 1
Episodic Ataxia	Isaacs Syndrome Neuromyotonia Isaacs' Syndrome Acquired Neuromyotonia Continuous Muscle Fiber Activity Syndrome Quantal Squander Syndrome Isaacs-Mertens Syndrome Ea Syndrome Episodic Ataxia Syndrome Isaac Syndrome Isaac'S-Merten'S Syndrome Isaac-Mertens Syndrome Peripheral Nerve Hyperexcitability Ea Peripheral Nerve Hyperexcitability Syndrome Ataxia, Episodic Isaacs Neuromyotonia Continuous Muscle Fibre Activity
Synostosis
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Malignant Hyperthermia	Anesthesia Related Hyperthermia Malignant Hyperpyrexia Due To Anesthesia Hyperpyrexia, Malignant Hyperthermia, Malignant Malignant Hyperpyrexia Mhs Malignant Fever
Mood Disorder	Mood Disorders Episodic Mood Disorder
Psychotic Disorder	Psychotic Disorders Mental Or Behavioural Disorder Psychotic Mental Disorders
Chromosomal Duplication Syndrome
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Left Ventricular Noncompaction	Noncompaction Cardiomyopathy Left Ventricular Hypertrabeculation Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy
Attention Deficit-Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder ADHD Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder, Susceptibility To Attention Deficit Disorder With Hyperactivity Hyperkinetic Disorder Hyperactivity Of Childhood Attention-Deficit/Hyperactivity Disorder Add Addh Attention Deficit Attention Deficit Disorder Of Childhood With Hyperactivity Attention Deficit Disorder With Hyperactivity Syndrome Hyperkinetic Syndrome Attention-Deficit Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Disturbance Of Activity And Attention Disorder Of Activity And Attention Adhd - [Attention Deficit Hyperactivity Disorder] Hyperkinetic Disorders Disorder Of Activity And Attention With Hyperkinesia Attention Deficit Syndrome With Hyperactivity
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
Lipoprotein Quantitative Trait Locus	Coronary Artery Disease Coronary Artery Anomaly Coronary Artery Disease, Susceptibility To Myocardial Ischemia Congenital Anomaly Of Coronary Artery Coronary Arteriosclerosis Coronary Disease Coronary Heart Disease Coronary Artery Disorder LPAQTL Lpa Deficiency, Congenital Coronary Artery Abnormality Coronary Artery Anomaly, Congenital Chd Coronary Syndrome Congenital Malformations Of Coronary Vessels Malformation Of Coronary Vessels Congenital Coronary Artery Anomaly Congenital Coronary Artery Deformity Congenital Coronary Artery Disorder Abnormal Coronary Artery Congenital Coronary Artery Malposition Congenital Coronary Disease Congenital Anomaly Of Coronary Arteries
Isolated Elevated Serum Creatine Phosphokinase Levels	Elevated Serum Cpk Idiopathic Hyperckemia Isolated Hyperckemia Elevated Serum Creatine Phosphokinase H-Ck Idiopathic Persistent Elevation Of Serum Creatine Kinase
Inflammatory Bowel Disease	Inflammatory Bowel Diseases Bowel Disease, Inflammatory
Migraine With Or Without Aura 1	Migraine Migraine With Or Without Aura, Susceptibility To, 1 Migraine Disorder Migraine Variant Migraines Migraine Disorders Mgr1 Mgau Ma Migraine With Or Without Aura Classic Migraine Common Migraine Disorder, Migraine Headache Migraine Headache Migrainous Migraine Headache Migraine Syndrome Headache Including Migraine Migraine, Susceptibility To
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Chromosome 22q11.2 Deletion Syndrome, Distal	22q11.2 Deletion Syndrome Autosomal Dominant Opitz G/Bbb Syndrome Catch22 Cayler Cardiofacial Syndrome Conotruncal Anomaly Face Syndrome Digeorge Syndrome Sedlackova Syndrome Shprintzen Syndrome Velocardiofacial Syndrome 22q11.2 Distal Deletion Syndrome Distal 22q11.2 Microdeletion Syndrome 22q11.2ds Vcfs Velo-Cardio-Facial Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Chromosome 22q11.2 Deletion Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Deletion 22q11.2 Syndrome 22q11ds Catch 22 Digeorge Sequence Microdeletion 22q11.2 Monosomy 22q11 Takao Syndrome Distal Del(22)(Q11.2) Distal Monosomy 22q11.2 Catch 22 Syndrome Chromosome Deletion Syndrome 22q11.2, Distal
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01793	CACNA1C Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21233	Cacna1c Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27750	Cacna1c Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	CACNA1C	VGNC	VGNC:60294
Bos taurus	CACNA1C	VGNC	VGNC:59325
Rattus norvegicus	CACNA1C	RGD	RGD:2245
Macaca mulatta	CACNA1C	VGNC	VGNC:70500
Canis familiaris	CACNA1C	VGNC	VGNC:38633
Mus musculus	CACNA1C	MGD	MGI:103013
Others	CACNA1C	NCBI