ATP2B2 - ATPase plasma membrane Ca2+ transporting 2 Gene

中文名称：ATPase 质膜 Ca2+ 转运 2

种属: Homo sapiens

同用名: PMCA2; DFNA82; PMCA2a; PMCA2i

基因 ID: 491 | 基因类型: protein coding

关于 ATP2B2

Cytogenetic location: 3p25.3 Genomic coordinates (GRCh38): 3:10,324,023-10,708,007 (from NCBI)

This gene has 14 transcripts (splice variants), 453 orthologues, 21 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 26.8), salivary gland (RPKM 5.2) and 1 other tissue.

功能概要

该基因编码的蛋白质属于 P 型初级离子转运 ATP 酶家族，其特征是在反应循环期间形成天冬氨酰磷酸中间体。这些酶以非常大的浓度梯度从真核细胞中去除二价钙离子，并在细胞内钙稳态中发挥关键作用。哺乳动物质膜钙 ATP 酶亚型由至少四个独立的基因编码，并且这些酶的多样性通过转录本的可变剪接进一步增加。不同亚型和剪接变体的表达以发育、组织和细胞类型特异性的方式进行调节，表明这些泵在功能上适应特定细胞和组织的生理需求。该基因编码质膜钙 ATP 酶亚型 2。已经鉴定出编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These Enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these Enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ATP2B2 基因产物(5)

mRNA	Protein	Name
NM_001001331.4	NP_001001331.1	plasma membrane calcium-transporting ATPase 2 isoform 1
NM_001330611.3	NP_001317540.1	plasma membrane calcium-transporting ATPase 2 isoform 3
NM_001353564.1	NP_001340493.1	plasma membrane calcium-transporting ATPase 2 isoform 2
NM_001363862.1	NP_001350791.1	plasma membrane calcium-transporting ATPase 2 isoform 4
NM_001683.5	NP_001674.2	plasma membrane calcium-transporting ATPase 2 isoform 2

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables ATP binding	IDA IDA: 通过直接分析推断	7929331	GOA
enables P-type calcium transporter activity	IDA IDA: 通过直接分析推断	7929331	GOA
enables P-type calcium transporter activity involved in regulation of postsynaptic cytosolic calcium ion concentration	IDA IDA: 通过直接分析推断	7929331	GOA
enables P-type calcium transporter activity involved in regulation of postsynaptic cytosolic calcium ion concentration	IMP IMP: 通过突变表型推断	7929331	GOA
enables PDZ domain binding	IDA IDA: 通过直接分析推断	11786550	GOA
enables calcium ion binding	IDA IDA: 通过直接分析推断	7929331	GOA
enables calmodulin binding	IDA IDA: 通过直接分析推断	7929331	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	11274188	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in calcium ion transport	IMP IMP: 通过突变表型推断	17234811	GOA
involved in neuron differentiation	IDA IDA: 通过直接分析推断	11259493	GOA
involved in regulation of cytosolic calcium ion concentration	IMP IMP: 通过突变表型推断	17234811	GOA
involved in sensory perception of sound	IMP IMP: 通过突变表型推断	15829536	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
is active in GABA-ergic synapse	IDA IDA: 通过直接分析推断	7929331	GOA
is active in GABA-ergic synapse	IMP IMP: 通过突变表型推断	7929331	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	15765049	GOA
is active in glutamatergic synapse	IDA IDA: 通过直接分析推断	7929331	GOA
is active in glutamatergic synapse	IMP IMP: 通过突变表型推断	7929331	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	7929331	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

ATP2B2 蛋白结构

Cation_ATPase_N

E1-E2_ATPase

Hydrolase

Cation_ATPase_C

ATP_Ca_trans_C

0
200
400
600
800
1000
1243 a.a.

蛋白主名

其他名称

plasma membrane calcium-transporting ATPase 2

ATPase, Ca++ transporting, plasma membrane 2

关联疾病

疾病名称

别名

Deafness, Autosomal Dominant 82

DFNA82

Deafness, Autosomal Dominant, 82

Deafness, Autosomal Recessive 12

DFNB12	Deafness, Autosomal Recessive 12, Modifier Of
Autosomal Recessive Nonsyndromic Deafness 12	Autosomal Recessive Deafness 12
Deafness, Autosomal Recessive, 12	Congenital Neurosensory Deafness Autosomal Recessive 12
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12
Deafness, Autosomal Recessive, Type 12

Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Deafness Type Dfna	Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna
Autosomal Dominant Isolated Sensorineural Deafness Type Dfna	Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna
Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna	Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna
Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna

X-Linked Cerebellar Ataxia

Cerebellar Angioblastoma

Hemangioblastoma Of Cerebellum

Cerebellar Hemangioblastoma

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb
Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb
Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb	Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb
Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Spinocerebellar Ataxia, X-Linked 3

Scax3	X-Linked Spinocerebellar Ataxia 3
X-Linked Ataxia-Deafness Syndrome	X-Linked Spinocerebellar Ataxia Type 3
Ataxia-Deafness Syndrome, X-Linked	Spinocerebellar Ataxia X-Linked Type 3
Ataxia-Deafness Syndrome X-Linked	X-Linked Ataxia-Hearing Loss Syndrome
Spinocerebellar Ataxia, X-Linked, 3

Spinocerebellar Ataxia, X-Linked 4

Scax4	X-Linked Spinocerebellar Ataxia 4
X-Linked Ataxia-Dementia Syndrome	X-Linked Spinocerebellar Ataxia Type 4
Ataxia-Dementia Syndrome, X-Linked	Spinocerebellar Ataxia X-Linked Type 4
Ataxia-Dementia Syndrome X-Linked	Spinocerebellar Ataxia, X-Linked, 4

Acute Hemorrhagic Leukoencephalitis

Ahl	Acute Haemorrhagic Leucoencephalitis Of Weston Hurst
Leukoencephalitis, Acute Hemorrhagic	Acute Hemorrhagic Encephalomyelitis
Acute Necrotizing Hemorrhagic Leukoencephalitis	Weston-Hurst Syndrome
Ahle	Acute Haemorrhagic Leucoencephalitis
Hurst Disease	Acute Haemorrhagic Leukoencephalitis, Postimmunization Or Postvaccinal
Postimmunization Or Postvaccinal Leukoencephalopathy

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome	Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
Graefe-Usher Syndrome	Hallgren Syndrome
Usher'S Syndrome	Retinitis Pigmentosa-Deafness Syndrome
Retinitis Pigmentosa-Hearing Loss Syndrome	Ush
Usher Syndromes

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-RS01195	ATP2B2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	ATP2B2	VGNC	VGNC:26294
Mus musculus	ATP2B2	MGD	MGI:105368
Felis catus	ATP2B2	VGNC	VGNC:68631
Macaca mulatta	ATP2B2	VGNC	VGNC:70181
Canis familiaris	ATP2B2	VGNC	VGNC:38257
Rattus norvegicus	ATP2B2	RGD	RGD:2176

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