ATP2B4 - ATPase plasma membrane Ca2+ transporting 4 Gene

中文名称：ATPase 质膜 Ca2+ 转运 4

种属: Homo sapiens

同用名: MXRA1; PMCA4; ATP2B2; PMCA4b; PMCA4x

基因 ID: 493 | 基因类型: protein coding

关于 ATP2B4

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:203,626,832-203,744,081 (from NCBI)

This gene has 7 transcripts (splice variants), 219 orthologues and 21 paralogues. Ubiquitous expression in endometrium (RPKM 66.6), fat (RPKM 45.1) and 23 other tissues.

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 4。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 4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ATP2B4 基因产物(8)

mRNA	Protein	Name
NM_001365783.2	NP_001352712.1	plasma membrane calcium-transporting ATPase 4 isoform 4c
NM_001365784.2	NP_001352713.1	plasma membrane calcium-transporting ATPase 4 isoform 4c
NM_001684.5	NP_001675.3	plasma membrane calcium-transporting ATPase 4 isoform 4b
NM_001001396.3	NP_001001396.1	plasma membrane calcium-transporting ATPase 4 isoform 4a
NM_001001396.3	NP_001001396.1	plasma membrane calcium-transporting ATPase 4 isoform 4a
NM_001365783.2	NP_001352712.1	plasma membrane calcium-transporting ATPase 4 isoform 4c
NM_001365784.2	NP_001352713.1	plasma membrane calcium-transporting ATPase 4 isoform 4c
NM_001684.5	NP_001675.3	plasma membrane calcium-transporting ATPase 4 isoform 4b

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 P-type calcium transporter activity	IMP IMP: 通过突变表型推断	8530416	GOA
enables calcium ion transmembrane transporter activity	IDA IDA: 通过直接分析推断	23549614	GOA
enables calmodulin binding	IDA IDA: 通过直接分析推断	8530416	GOA
enables nitric-oxide synthase binding	IPI IPI: 通过物理相互作用推断	11591728	GOA
enables nitric-oxide synthase inhibitor activity	IDA IDA: 通过直接分析推断	11591728	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	11274188	GOA
enables protein phosphatase 2B binding	IDA IDA: 通过直接分析推断	19287093	GOA
enables protein phosphatase 2B binding	IMP IMP: 通过突变表型推断	25147342	GOA
enables protein phosphatase 2B binding	IPI IPI: 通过物理相互作用推断	15955804	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in calcium ion export	IDA IDA: 通过直接分析推断	25798335	GOA
involved in calcium ion transmembrane transport	IMP IMP: 通过突变表型推断	8530416	GOA
involved in cellular response to epinephrine stimulus	IDA IDA: 通过直接分析推断	19278978	GOA
involved in intracellular calcium ion homeostasis	IDA IDA: 通过直接分析推断	19278978	GOA
involved in negative regulation of adenylate cyclase-activating adrenergic receptor signaling pathway	IDA IDA: 通过直接分析推断	17242280	GOA
involved in negative regulation of angiogenesis	IDA IDA: 通过直接分析推断	25147342	GOA
involved in negative regulation of arginine catabolic process	IDA IDA: 通过直接分析推断	19278978	GOA
involved in negative regulation of blood vessel endothelial cell migration	IDA IDA: 通过直接分析推断	25147342	GOA
involved in negative regulation of calcineurin-NFAT signaling cascade	IDA IDA: 通过直接分析推断	19287093	GOA
involved in negative regulation of calcineurin-NFAT signaling cascade	IMP IMP: 通过突变表型推断	15955804	GOA
involved in negative regulation of cardiac muscle hypertrophy in response to stress	IMP IMP: 通过突变表型推断	19287093	GOA
involved in negative regulation of cellular response to vascular endothelial growth factor stimulus	IDA IDA: 通过直接分析推断	25147342	GOA
involved in negative regulation of citrulline biosynthetic process	IDA IDA: 通过直接分析推断	19278978	GOA
involved in negative regulation of gene expression	IDA IDA: 通过直接分析推断	25147342	GOA
involved in negative regulation of nitric oxide biosynthetic process	IDA IDA: 通过直接分析推断	11591728	GOA
involved in negative regulation of nitric-oxide synthase activity	IDA IDA: 通过直接分析推断	11591728	GOA
involved in negative regulation of the force of heart contraction	IDA IDA: 通过直接分析推断	17242280	GOA
acts upstream of negative effect nitric oxide-cGMP-mediated signaling	IDA IDA: 通过直接分析推断	19278978	GOA
involved in positive regulation of protein localization to plasma membrane	IDA IDA: 通过直接分析推断	15955804	GOA
involved in regulation of cell cycle G1/S phase transition	IMP IMP: 通过突变表型推断	24448801	GOA
involved in regulation of transcription by RNA polymerase II	IMP IMP: 通过突变表型推断	19287093	GOA
involved in response to hydrostatic pressure	IMP IMP: 通过突变表型推断	19287093	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in T-tubule	IDA IDA: 通过直接分析推断	19287093	GOA
located in Z disc	IDA IDA: 通过直接分析推断	19287093	GOA
located in membrane	IDA IDA: 通过直接分析推断	8530416	GOA
located in membrane raft	IDA IDA: 通过直接分析推断	23549614	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

ATP2B4 蛋白结构

ATPase-IIB_Ca

ATP_Ca_trans_C

0
200
400
600
800
1000
1205 a.a.

蛋白主名

其他名称

plasma membrane calcium-transporting ATPase 4

ATPase, Ca++ transporting, plasma membrane 4

关联疾病

疾病名称

别名

X-Linked Cerebellar Ataxia

Cerebellar Angioblastoma

Hemangioblastoma Of Cerebellum

Cerebellar Hemangioblastoma

Nemaline Myopathy 6

NEM6	Nemaline Myopathy 6, Autosomal Dominant
Myopathy, Nemaline, Type 6

Schnyder Corneal Dystrophy

Schnyder Crystalline Corneal Dystrophy	SCCD
Corneal Dystrophy, Crystalline, Of Schnyder	Corneal Dystrophy, Schnyder Type
Corneal Dystrophy Crystalline Of Schnyder	Crystalline Stromal Dystrophy
Hereditary Crystalline Stromal Dystrophy Of Schnyder	Scd
Corneal Dystrophy, Schnyder	Schnyder Crystalline Dystrophy Sine Crystals
Dystrophy, Corneal, Crystalline, Schnyder

Long Qt Syndrome

Romano-Ward Syndrome	Long Q-T Syndrome
Lqt	Qt Syndrome, Long
Congenital Long Qt Syndrome	Familial Long Qt Syndrome

Malaria

Malaria, Susceptibility To	Malaria, Resistance To
Malaria, Cerebral	Cerebral Malaria
Malaria, Severe, Susceptibility To	Malaria, Severe, Resistance To
Malaria, Cerebral, Susceptibility To	Induced Malaria
Malaria, Vivax, Protection Against	Malaria, Severe
Malaria, Cerebral, Reduced Risk Of	Malaria, Protection Against
Resistance To Malaria Due To G6pd Deficiency	Malaria Due To G6pd Deficiency
Malarial Encephalitis	CM
Malaria Cerebral	Susceptibility To Malaria
Acute Pernicious Fever	Aestivo-Autumnal Fever
Aestivo Autumnal Malaria	Chagres Fever
Continued Malaria Fever	Estivo-Autumnal Fever
Estivo-Autumnal Malaria	Estivo-Autumnal Malarial Fever
Falciparum Fever	Malignant Tertian Fever
Malignant Tertian Malaria	Pernicious Intermittent Fever
Pernicious Malaria	Quotidian Malaria
Subtertian Fever	Subtertian Malaria Fever
Subtertian Malignant Tertian Malaria	Tropical Malaria
Algid Malaria	Bilious Haemoglobinuric Fever
Black Water Fever	Blackwater Fever
Malarial Blackwater Fever	Severe Malarial Falciparum
West African Fever	Malarial Haematinuria
Haemoglobinuric Fever	Haemoglobinuric Malaria
Severe Plasmodium Falciparum Malaria	Malarial Haemoglobinuria
Malarial Haematuria	Falciparum Malaria [Malignant Tertian]
Malaria Tropica	Malarial Shock
Chagres Virus Disease	Malignant Malaria
Mtm - [Malignant Tertian Malaria]	Tm -[Malignant Tertian Malaria]
Panama Fever	St - [Subtertian Malaria]
Malarial Quotidian	Benign Tertian Malaria
Tertian Ague	Vivax Fever
Plasmodium Vivax Malaria Nos	Btm - [Benign Tertian Malaria]
Bt - [Benign Tertian Malaria]	Vivax Malaria
Benign Tertian Vivax Malaria	Tertian Malaria
Quartan Malaria	Quartan Ague
Quartan Fever	Plasmodium Malariae Malaria Nos
Quartan Malarial	Malaria By Plasmodium Malariae
Malariae Malaria	Ovale Tertian Malaria
Plasmodium Ovale Fever	Malaria Fever By Plasmodium Ovale
Ovale Malaria	Malaria By Plasmodium Ovale
Malarial Ovale	Marsh Fever
Remittent Congestive Fever	Coastal Fever
Remittent Gastric Fever	Miasmatic Fever
Congestive Remittent Fever	Intermittent Fever
Jungle Fever	Paludism
Cameroon Fever	Ague
Corsican Fever	Intermittent Bilious Fever
Disease Due To Plasmodiidae	Malarial Fever
Plasmodiosis	Remittent Fever
Roman Fever	Malaria Fever Nos
Malaria Nos	Paludal Fever
Clinically Diagnosed Malaria	Clinically Diagnosed Malaria Without Parasitological Confirmation
Congestive Fever	Malarial Cachexia
Marsh Cachexia	Paludal Cachexia
Recurrent Malaria	Remittent Malaria

Alpha-Thalassemia

Alpha Thalassemia	Alpha Thalassaemia
Alpha Plus Thalassemia	Thalassemia, Alpha-
Thalassemias, Alpha-	A-Thalassemia
Α-Thalassemia	A-THAL
Thalassemia	Alpha Thalassaemia Syndrome

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

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-RS01197	ATP2B4 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS20525	Atp2b4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS27034	Atp2b4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	ATP2B4	MGD	MGI:88111
Macaca mulatta	ATP2B4	VGNC	VGNC:70183
Bos taurus	ATP2B4	VGNC	VGNC:97243
Felis catus	ATP2B4	VGNC	VGNC:68639
Rattus norvegicus	ATP2B4	RGD	RGD:621305
Canis familiaris	ATP2B4	VGNC	VGNC:38259

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