1. Gene
  2. ATP1B2 - ATPase Na+/K+ transporting subunit beta 2 Gene

ATP1B2 - ATPase Na+/K+ transporting subunit beta 2 Gene

中文名称:ATPase Na+/K+ 转运亚基 beta 2

种属: Homo sapiens

同用名: AMOG

基因 ID: 482 | 基因类型: protein coding

关于 ATP1B2

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:7,646,627-7,657,770 (from NCBI)

This gene has 3 transcripts (splice variants), 265 orthologues and 4 paralogues. Biased expression in brain (RPKM 120.9) and ovary (RPKM 11.3).

功能概要

该基因编码的蛋白质属于 Na+/K+ 和 H+/K+ ATPases β 链蛋白家族,以及 Na+/K+ -ATPases 亚家族。 Na+/K+ -ATPase 是一种完整的膜蛋白,负责建立和维持 Na 和 K 离子跨质膜的电化学梯度。这些梯度对于渗透调节、各种有机和无机分子的钠偶联转运以及神经和肌肉的电兴奋性至关重要。这种酶由两个亚基组成,一个大的催化亚基 (α) 和一个较小的糖蛋白亚基 (β) 。 β 亚基通过组装 α/β 异二聚体来调节输送到质膜的钠泵的数量。 Na+/K+ -ATPase 的糖蛋白亚基由多个基因编码。该基因编码一个 β2 亚基。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2014 年 12 月]

The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This Enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 2 subunit. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]

ATP1B2 基因产物(2)

mRNA Protein Name
NM_001303263.2 NP_001290192.1 sodium/potassium-transporting ATPase subunit beta-2 isoform 2
NM_001678.5 NP_001669.3 sodium/potassium-transporting ATPase subunit beta-2 isoform 1

ATP1B2 蛋白结构

Na_K-ATPase

Na_K-ATPase: Sodium / potassium ATPase beta chain (1 - 284)

  • 0
  • 100
  • 200
  • 290 a.a.
蛋白主名 其他名称

sodium/potassium-transporting ATPase subunit beta-2

ATPase, Na+/K+ transporting, beta 2 polypeptide

重组 ATP1B2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75587 ATP1B2 Protein, Human (HEK293, His) P14415 (D68-T290) ≥95%

关联疾病

疾病名称 别名
Nerve Fibre Bundle Defect

Retinal Nerve Fiber Bundle Deficiency

Retinal Nerve Fiber Bundle Defects

Nerve Fiber Bundle Defect

Familial Hemiplegic Migraine

Hemiplegic Migraine, Familial

Hemiplegic-Ophthalmoplegic Migraine

Fhm

Hemiplegic Migraine Familial

Retinoschisis 1, X-Linked, Juvenile

Retinoschisis

X-Linked Retinoschisis

X-Linked Juvenile Retinoschisis

RS1

XLRS1

X-Linked Juvenile Retinoschisis 1

Xlrs

Retinoschisis, X-Linked

Rs

Congenital X-Linked Retinoschisis

Degenerative Retinoschisis

Juvenile Retinoschisis

Xjr

Retinoschisis Juvenile X-Linked 1

Retinoschisis, Juvenile, X-Linked

Retinoschisis, Degenerative

Alternating Hemiplegia Of Childhood

Alternating Hemiplegia

Ahc

Alternating Hemiplegia Syndrome

Hemiplegia, Alternating, Of Childhood

Hemiplegia, Crossed

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus ATP1B2 VGNC VGNC:26286
Rattus norvegicus ATP1B2 RGD RGD:2171
Canis familiaris ATP1B2 VGNC VGNC:38249
Macaca mulatta ATP1B2 VGNC VGNC:99123
Felis catus ATP1B2 VGNC VGNC:68591
Mus musculus ATP1B2 MGD MGI:88109
Others ATP1B2 NCBI