CACNA1D - calcium voltage-gated channel subunit alpha1 D Gene

Also Known as CACH3; CACN4; PASNA; SANDD; Cav1.3; CCHL1A2; CACNL1A2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 776

About CACNA1D

Cytogenetic location: 3p21.1 Genomic coordinates (GRCh38): 3:53,494,611-53,813,733 (from NCBI)

This gene has 30 transcripts (splice variants), 285 orthologues, 26 paralogues and is associated with 103 phenotypes. Broad expression in adrenal (RPKM 4.1), lung (RPKM 2.3) and 16 other tissues.

Summary

Voltage-dependent calcium channels 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, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the Others act as auxiliary subunits regulating this activity. The distinctive properties of the Calcium Channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

CACNA1D Products (3)

mRNA	Protein	Name
NM_000720.4	NP_000711.1	voltage-dependent L-type calcium channel subunit alpha-1D isoform a
NM_001128839.3	NP_001122311.1	voltage-dependent L-type calcium channel subunit alpha-1D isoform c
NM_001128840.3	NP_001122312.1	voltage-dependent L-type calcium channel subunit alpha-1D isoform b

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 calcium channel activity	IMP IMP: Inferred from mutant phenotype	25620733	GOA
contributes to high voltage-gated calcium channel activity	IDA IDA: Inferred from direct assay	1309651	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	30058071	GOA
enables voltage-gated calcium channel activity	IDA IDA: Inferred from direct assay	11160515	GOA
enables voltage-gated calcium channel activity	IMP IMP: Inferred from mutant phenotype	23913001	GOA
enables voltage-gated calcium channel activity involved SA node cell action potential	IMP IMP: Inferred from mutant phenotype	21131953	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in calcium ion import	IDA IDA: Inferred from direct assay	1309651	GOA
involved in calcium ion transport	IDA IDA: Inferred from direct assay	11160515	GOA
involved in cardiac muscle cell action potential involved in contraction	IMP IMP: Inferred from mutant phenotype	21131953	GOA
involved in membrane depolarization during SA node cell action potential	IMP IMP: Inferred from mutant phenotype	21131953	GOA
involved in positive regulation of calcium ion transport	IDA IDA: Inferred from direct assay	1309651	GOA
involved in regulation of heart rate by cardiac conduction	IMP IMP: Inferred from mutant phenotype	21131953	GOA
involved in sensory perception of sound	IMP IMP: Inferred from mutant phenotype	21131953	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of L-type voltage-gated calcium channel complex	IDA IDA: Inferred from direct assay	1309651	GOA
part of voltage-gated calcium channel complex	IDA IDA: Inferred from direct assay	11160515	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

CACNA1D Protein Structure

Ion_trans

Ca_chan_IQ

0
400
800
1200
1600
2000
2161 a.a.

Protein Preferred Names	Protein Names
voltage-dependent L-type calcium channel subunit alpha-1D	calcium channel, L type, alpha-1 polypeptide

Related Diseases

Diseases	Alias
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	PASNA Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome Aldosteronism, Primary, Seizures, And Neurologic Abnormalities
Sinoatrial Node Dysfunction And Deafness	SANDD Sinoatrial Node Dysfunction And Hearing Loss Dysfunction, Node, Sinoatrial And Deafness
Timothy Syndrome	Long Qt Syndrome With Syndactyly TS Lqt8 Long Qt Syndrome 8 Long Qt Syndrome Type 8 Long Qt Syndrome-Syndactyly Syndrome
Deafness, Autosomal Recessive 93	DFNB93 Autosomal Recessive Nonsyndromic Deafness 93 Autosomal Recessive Deafness 93 Deafness, Autosomal Recessive, 93 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 93 Deafness, Autosomal Recessive, Type 93
Night Blindness	Nyctalopia
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
Conn'S Syndrome	Cushing Syndrome Hyperaldosteronism Primary Hyperaldosteronism Hypercortisolism Primary Aldosteronism Cushing'S Syndrome Adrenal Gland Hyperfunction Conn Syndrome Hyperadrenalism Ectopic Acth Syndrome Hyperadrenocorticism Cushing Disease Cushing'S Disease Adrenal Cortex Adenoma Corticotroph Pituitary Adenoma Pituitary Corticotroph Micro-Adenoma Pituitary-Dependent Cushing Syndrome Pituitary Acth Hypersecretion Acth Syndrome, Ectopic Acth-Secreting Pituitary Adenoma Adrenal Hyperfunction Resulting From Pituitary Acth Excess Ectopic Adrenocorticotropic Hormone Syndrome Nodular Primary Adrenocortical Dysplasia Pituitary Dependent Cushing Syndrome Pituitary Cushing Syndrome Pituitary-Dependant Cushing Syndrome Pituitary-Dependant Hypercortisolism Pituitary-Dependant Hypercortisolism Disorder Aldosteronism Primary Acth Syndrome Ectopic Adrenal Cushing'S Syndrome Adrenal Cortical Adenoma Cushing Syndrome Nos Cortisol Hypersecretion Corticoadrenal Hypersecretion Cushing Syndrome Secondary To Ectopic Acth-Secretion Ectopic Cushing Syndrome Hypercortisolism Due To Nonpituitary Tumour Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome Idiopathic Aldosteronism Aldosteronism Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia Primary Aldosteronism Due To Adrenal Hyperplasia
Hypokalemia	Potassium Deficiency Potassium Deficiency Disorder Hypopotassemia Potassium Potassium [K] Deficiency Hypokalaemic Syndrome Hypopotassaemia Hypopotassaemia Syndrome Hypokalaemic Potassium Depletion
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome
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
Hyperaldosteronism, Familial, Type I	Glucocorticoid-Remediable Aldosteronism Gra Familial Hyperaldosteronism Type 1 Hyperaldosteronism, Familial Type 1 HALD1 Fh I Glucocorticoid-Suppressible Hyperaldosteronism Gsh Acth-Dependent Hyperaldosteronism Syndrome Aldosteronism, Glucocorticoid-Remediable Dexamethasone Sensitive Hypertension Glucocorticoid Sensitive Hypertension Familial Hyperaldosteronism Type I Fh1 Aldosteronism, Sensitive To Dexamethasone Dexamethasone-Sensitive Hypertension Fh-I Glucocorticoid-Sensitive Hypertension Hyperaldosteronism, Familial, 1 Aldosteronism Sensitive To Dexamethasone Familial Hyperaldosteronism 1 Fh Type 1 Familial Aldosteronism Type I
Heart Block, Congenital	Congenital Heart Block Heart Block Congenital Congenital Atrioventricular Block
Usher Syndrome, Type Iiia	Usher Syndrome Type 3 Ush3 Usher Syndrome Type 3a USH3A Usher Syndrome, Type Iii Usher Syndrome, Type 3 Usher Syndrome, Type 3a Usher Syndrome Type Iiia Usher Syndrome 3a Usher'S Syndrome Type 3 Usher Syndrome Iii Usher Syndrome Type Iii
Third-Degree Atrioventricular Block	Third Degree Atrioventricular Block Complete Atrioventricular Block Complete Av Block Third-Degree Block Complete Atrioventricular Heart Block Complete Heart Block Third Degree Atrioventricular Heart Block Third Degree Heart Block Complete Heart Block Nos Chb - [Complete Heart Block] Idioventricular Rhythm Av - [Atrioventricular] Block, Complete
Sinoatrial Node Disease	Sa Node Sinuatrial Node Sinus Node Dysfunction
Adrenal Adenoma	Adenoma Of The Adrenal Gland Adrenal Incidentaloma Adrenal Cortical Adenoma Adrenocortical Adenoma
Adrenal Carcinoma	Adrenal Cancer Adrenal Gland Cancer Malignant Neoplasm Of Adrenal Gland Adrenal Gland Neoplasms Carcinoma Of The Adrenal Gland Adrenal Neoplasm Malignant Adrenal Tumor Neoplasm Of Adrenal Gland Tumor Of The Adrenal Gland Adrenal Gland Neoplasm Adrenocortical Carcinoma Adrenal Gland Malignancy Suprarenal Cancer Malignant Neoplasm Of Suprarenal Gland Malignant Neoplasm Of Adrenal Gland, Unspecified Malignant Tumour Of Adrenal Gland Suprarenal Gland Cancer Primary Malignant Neoplasm Of Adrenal Gland
Second-Degree Atrioventricular Block	Second-Degree Heart Block Second Degree Atrioventricular Block Second Degree Atrioventricular Heart Block Second Degree Heart Block Incomplete Atrioventricular Block, Second Degree Nos Second-Degree Block, Type 1 And 2 Atrioventricular Block, Type 1 And 2 Second Degree Incomplete Atrioventricular Block Av - [Atrioventricular] Block 2nd
Adrenal Gland Disease	Adrenal Gland Diseases Adrenal Gland Disorders
Brugada Syndrome 4	BRGDA4 Brugada Syndrome, Type 4
Fleck Retina, Familial Benign	FRFB Familial Benign Flecked Retina Familial Benign Fleck Retina
Familial Periodic Paralysis	Genetic Periodic Paralysis Paralyses, Familial Periodic
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
Deafness, Autosomal Recessive 9	Auditory Neuropathy, Autosomal Recessive, 1 Neurosensory Nonsyndromic Recessive Deafness 9 DFNB9 Nsrd9 Autosomal Recessive Nonsyndromic Deafness 9 Autosomal Recessive Deafness 9 Nrsd9 AUNB1 Nonsyndromic Auditory Neuropathy Autosomal Recessive Nsran Deafness, Autosomal Recessive, 9 Deafness Neurosensory Autosomal Recessive 9 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 9 Non-Syndromic Recessive Hearing Loss 9 Deafness, Autosomal Recessive, Type 9 Auditory Neuropathy, Nonsyndromic Recessive
Cerebral Palsy	Infantile Cerebral Palsy Mixed Cerebral Palsy Palsy Cerebral Palsy, Cerebral Cerebral Palsy, Mixed
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Primary Pigmented Nodular Adrenocortical Disease	Ppnad Primary Pigmented Nodular Adrenal Dysplasia Pigmented Nodular Adrenocortical Disease, Primary, 2 Pigmented Nodular Adrenocortical Disease, Primary, 1
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
Hyperinsulinemic Hypoglycemia	Nesidioblastosis Islet Cell Hyperplasia Persistent Hyperinsulinemia Hypoglycemia Of Infancy Hyperinsulinemic Hypoglycaemia
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
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
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
Familial Atrial Fibrillation	Atrial Fibrillation, Familial Atfb Atrial Fibrillation Autosomal Dominant Autosomal Dominant Atrial Fibrillation Auricular Fibrillation Atrial Fibrillation Atrial Fibrillation, Familial, 1
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]
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
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

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-RS01794	CACNA1D Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20625	Cacna1d Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27134	Cacna1d Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CACNA1D	RGD	RGD:70973
Bos taurus	CACNA1D	VGNC	VGNC:26674
Mus musculus	CACNA1D	MGD	MGI:88293
Felis catus	CACNA1D	VGNC	VGNC:60295
Macaca mulatta	CACNA1D	VGNC	VGNC:70501
Canis familiaris	CACNA1D	VGNC	VGNC:38634
Others	CACNA1D	NCBI