country

Change Language

EN - English
FR - Français
DE - Deutsch
ES - Español
JA - 日本語
KO - 한국어

Country or Region:

United States

Product Name	Size / Unit Price	Qty

Total: USD 0.00 Checkout

CACNG2 - calcium voltage-gated channel auxiliary subunit gamma 2 Gene

Also Known as MRD10

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10369

About CACNG2

Cytogenetic location: 22q12.3 Genomic coordinates (GRCh38): 22:36,560,857-36,703,752 (from NCBI)

This gene has 2 transcripts (splice variants), 264 orthologues, 5 paralogues and is associated with 2 phenotypes. Restricted expression toward brain (RPKM 5.4).

Summary

The protein encoded by this gene is a type I transmembrane AMPA Receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. The AMPA subtype of ionotropic glutamate receptors are ligand gated ion channels that are typically activated by glutamate released from presynaptic neuron terminals and mediate fast neurotransmission in excitatory synapses. TARPs thus play an important role in synaptic plasticity, learning and memory. Mutations in this gene cause an autosomal dominant form of cognitive disability. [provided by RefSeq, Jul 2017]

CACNG2 Products (2)

mRNA	Protein	Name
NM_001379051.1	NP_001365980.1	voltage-dependent calcium channel gamma-2 subunit isoform 2
NM_006078.5	NP_006069.1	voltage-dependent calcium channel gamma-2 subunit isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20805473	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

CACNG2 Protein Structure

PMP22_Claudin

0
100
200
300
323 a.a.

Protein Preferred Names	Protein Names
voltage-dependent calcium channel gamma-2 subunit	TARP gamma-2

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder, Autosomal Dominant 10	MRD10 Mental Retardation, Autosomal Dominant 10 Autosomal Dominant Non-Syndromic Intellectual Disability 10 Autosomal Dominant Intellectual Developmental Disorder 10 Autosomal Dominant Mental Retardation 10 Mental Retardation, Autosomal Dominant, Type 10
Autosomal Dominant Non-Syndromic Intellectual Disability
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
Congenital Muscular Dystrophy-Dystroglycanopathy Type A6	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A6 Mddga6 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Large-Related Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A6
Epilepsy, Familial Temporal Lobe, 1	ETL1 Adpeaf Adlte Epilepsy, Partial, With Auditory Features Autosomal Dominant Partial Epilepsy With Auditory Features Epilepsy, Lateral Temporal Lobe, Autosomal Dominant Familial Temporal Lobe Epilepsy 1 Partial Epilepsy With Auditory Features Autosomal Dominant Lateral Temporal Lobe Epilepsy Lateral Temporal Lobe Epilepsy Autosomal Dominant Epilepsy, Temporal Lobe, Familial, Type 1
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
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
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
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

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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01810	CACNG2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CACNG2	RGD	RGD:71095
Mus musculus	CACNG2	MGD	MGI:1316660
Macaca mulatta	CACNG2	VGNC	VGNC:70512
Felis catus	CACNG2	VGNC	VGNC:60309
Bos taurus	CACNG2	VGNC	VGNC:26687
Canis familiaris	CACNG2	VGNC	VGNC:38648
Others	CACNG2	NCBI