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

中文名称：钙电压门控通道辅助亚基γ2

种属: Homo sapiens

同用名: MRD10

基因 ID: 10369 | 基因类型: protein coding

关于 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).

功能概要

该基因编码的蛋白质是 I 型跨膜 AMPA 受体调节蛋白 (TARP) 。 TARP 调节 AMPA 受体的运输和通道门控。离子型谷氨酸受体的 AMPA 亚型是配体门控离子通道，通常由突触前神经元末梢释放的谷氨酸激活，并介导兴奋性突触中的快速神经传递。因此，TARP 在突触可塑性、学习和记忆中发挥重要作用。该基因的突变会导致常染色体显性遗传形式的认知障碍。[RefSeq 提供，2017 年 7 月]

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 基因产物(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

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	20805473	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

CACNG2 蛋白结构

PMP22_Claudin

0
100
200
300
323 a.a.

蛋白主名

其他名称

voltage-dependent calcium channel gamma-2 subunit

TARP gamma-2

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS01810	CACNG2 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 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

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