CACNA1B - calcium voltage-gated channel subunit alpha1 B Gene

Also Known as BIII; CACNN; DYT23; Cav2.2; NEDNEH; CACNL1A5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 774

About CACNA1B

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:137,877,782-138,124,619 (from NCBI)

This gene has 5 transcripts (splice variants), 289 orthologues, 26 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 4.9), testis (RPKM 2.2) and 1 other tissue.

Summary

The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent Calcium Channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

CACNA1B Products (2)

mRNA	Protein	Name
NM_000718.4	NP_000709.1	voltage-dependent N-type calcium channel subunit alpha-1B isoform 1
NM_001243812.2	NP_001230741.1	voltage-dependent N-type calcium channel subunit alpha-1B isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Verweise	Source
enables high voltage-gated calcium channel activity	IMP IMP: Inferred from mutant phenotype	23376566	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11438518	GOA
enables voltage-gated calcium channel activity	IDA IDA: Inferred from direct assay	1321501	GOA
enables voltage-gated calcium channel activity	IMP IMP: Inferred from mutant phenotype	25296916	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in modulation of chemical synaptic transmission	IDA IDA: Inferred from direct assay	23376566	GOA
involved in response to amyloid-beta	IDA IDA: Inferred from direct assay	23376566	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

CACNA1B Protein Structure

Ion_trans

Ca_chan_IQ

0
400
800
1200
1600
2000
2339 a.a.

Protein Preferred Names	Protein Names
voltage-dependent N-type calcium channel subunit alpha-1B	Cav2.2 voltage-gated Ca2+ channel

CACNA1B Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	CACNA1B	Q00975	RXRB	Homo sapiens	P28702	TAP	20195357

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	NEDNEH Neurodevelopmental Disorder With Seizures And Non-Epileptic Hyperkinetic Movements
Non-Specific Early-Onset Epileptic Encephalopathy	Undetermined Early-Onset Epileptic Encephalopathy Non-Specific Eoee Undetermined Eoee
Lambert-Eaton Myasthenic Syndrome	Lambert-Eaton Syndrome Eaton-Lambert Syndrome Lems Lambert Eaton Myasthenic Syndrome Eaton Lambert Syndrome Lambert Eaton Syndrome Myasthenic Syndrome Of Lambert-Eaton Myasthenic-Myopathic Syndrome Of Lambert-Eaton Lems - [Lambert-Eaton Myasthenic Syndrome]
Dystonia 23	DYT23 Adult-Onset Cervical Dystonia, Dyt23 Type Dystonia, Type 23
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
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
Familial Hemiplegic Migraine	Hemiplegic Migraine, Familial Hemiplegic-Ophthalmoplegic Migraine Fhm Hemiplegic Migraine Familial
Spinocerebellar Ataxia 6	Spinocerebellar Ataxia Type 6 SCA6 Type 6 Spinocerebellar Ataxia Spinocerebellar Ataxia-6 Ataxia, Spinocerebellar, Type 6
Alternating Exotropia	Exotropia
Fleck Retina, Familial Benign	FRFB Familial Benign Flecked Retina Familial Benign Fleck Retina
Paroxysmal Extreme Pain Disorder	PEPD Familial Rectal Pain Pexpd Submandibular, Ocular, And Rectal Pain With Flushing Pain, Submandibular, Ocular, And Rectal, With Flushing Rectal Pain, Familial Submandibular, Ocular And Rectal Pain With Flushing Familial Rectal Syndrome Frp Pain Disorder, Paroxysmal, Extreme
Kleefstra Syndrome 1	9q Subtelomeric Deletion Syndrome KLEFS1 Chromosome 9q34.3 Deletion Syndrome 9q- Syndrome 9q34 Deletion Syndrome Kleefstra Syndrome Due To 9q34 Microdeletion Kleefstra Syndrome 9q-Syndrome 9qstds Kleefstra Syndrome Due To 9q Subtelomeric Deletion Kleefstra Syndrome Due To Del(9)(Q34) Kleefstra Syndrome Due To Monosomy 9q34 Chromosome 9q Subtelomeric Deletion Syndrome Kleefstra Syndrome, Type 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
Kleefstra Syndrome	9q34.3 Microdeletion Syndrome 9q Subtelomeric Deletion Syndrome 9q- Syndrome Chromosome 9q Deletion Syndrome 9q34.3 Deletion Syndrome 9qstds Chromosome 9q34.3 Deletion Syndrome Chromosome 9, Trisomy 9q
Timothy Syndrome	Long Qt Syndrome With Syndactyly TS Lqt8 Long Qt Syndrome 8 Long Qt Syndrome Type 8 Long Qt Syndrome-Syndactyly Syndrome
Erythromelalgia	Primary Erythromelalgia Erythermalgia Primary Erythermalgia Mitchell Disease Familial Erythromelalgia
Pseudohypoaldosteronism, Type I, Autosomal Recessive	Autosomal Recessive Pseudohypoaldosteronism Type 1 PHA1B Pseudohypoaldosteronism Type 1 Pseudohypoaldosteronism, Type I Generalized Pha1 Generalized Pseudohypoaldosteronism Type 1 Pseudohypoaldosteronism Type 1 Autosomal Recessive Pha1 Pseudohypoaldosteronism Pha I, Autosomal Recessive Autosomal Recessive Pha 1 Pseudohypoaldosteronism Type 1, Recessive Pseudohypoaldosteronism Type I Autosomal Recessive Pha1 Pha Type 1 Pseudohypoaldosteronism 1, Autosomal Recessive Multisystem Pseudohypoaldosteronism Pha Type I, Autosomal Recessive Pseudohypoaldosteronism Type I, Autosomal Recessive
Pain Agnosia	Analgesia
Agnosia	Dyspraxia Primary Visual Agnosia Dyspraxia Syndrome Monomodal Visual Amnesia Visual Amnesia Agnosia, Primary Visual Apraxias Alexia
Migraine With Aura	Classic Migraine Migraine With Typical Aura Migraine Accompagnée Complicated Migraine Classical Migraine Acute Migraine With Aura
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
Dystonia 11, Myoclonic	Myoclonic Dystonia Myoclonus-Dystonia Syndrome DYT11 Myoclonic Dystonia 11 Alcohol-Responsive Dystonia Myoclonus, Hereditary Essential Dystonia-11, Myoclonic Myoclonus-Dystonia Dystonia 11 Hereditary Essential Myoclonus Dystonia, Alcohol-Responsive Dyt-Sgce Dystonia, Alcohol Responsive Dystonia-11 Dystonia, Myoclonic Dystonia, Myoclonic, Type 11
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
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
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic

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 (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS01792	CACNA1B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CACNA1B	MGD	MGI:88296
Bos taurus	CACNA1B	VGNC	VGNC:26673
Canis familiaris	CACNA1B	VGNC	VGNC:38632
Macaca mulatta	CACNA1B	VGNC	VGNC:70499
Rattus norvegicus	CACNA1B	RGD	RGD:628852
Others	CACNA1B	NCBI