2. Gene
  3. PHKG2 - phosphorylase kinase catalytic subunit gamma 2 Gene

PHKG2 - phosphorylase kinase catalytic subunit gamma 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：磷酸化酶激酶催化亚基 γ 2

种属: Homo sapiens

同用名: GSD9C

基因 ID: 5261 | 基因类型: protein coding

关于 PHKG2

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:30,748,425-30,761,176 (from NCBI)

This gene has 11 transcripts (splice variants), 177 orthologues, 22 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 22.8), bone marrow (RPKM 6.1) and 24 other tissues.

功能概要

磷酸化酶激酶是 16 个亚基的聚合物，α、β、γ 和 δ 各有四个。 α 亚基包括骨骼肌和肝脏亚型，由两个不同的基因编码。 β 亚基在肌肉和肝脏亚型中是相同的，并且由一个基因编码。 γ 亚基还包括骨骼肌和肝亚型，肝亚型由该基因编码。 δ亚基是一种钙调蛋白，可由三种不同的基因编码。 γ 亚基包含酶的活性位点，而 α 和 β 亚基具有受磷酸化控制的调节功能。 δ亚基介导酶对钙浓度的依赖性。该基因的突变会导致 9C 型糖原贮积病，也称为常染色体肝糖原贮积症。已在该基因中鉴定出编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2010 年 2 月]

Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The delta subunit is a Calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]

PHKG2 基因产物(2)

mRNA Protein Name
NM_000294.3 NP_000285.1 phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform 1
NM_001172432.2 NP_001165903.1 phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform 2
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
23455922 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

PHKG2 蛋白结构

Pkinase

Pkinase: Protein kinase domain (27 - 291)

  • 0
  • 100
  • 200
  • 300
  • 406 a.a.
蛋白主名 其他名称

phosphorylase b kinase gamma catalytic chain, liver/testis isoform

PHK-gamma-LT

PHKG2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
PHKG2 P15735 PHKA2 Homo sapiens P46019
Anti Tag CoIP
33961781
种属内
PHKG2 P15735 PHKA2 Homo sapiens P46019
Y2H Array
32296183
种属内
PHKG2 P15735 PHKA2 Homo sapiens P46019
Pull Down
32707033
种属内
PHKG2 P15735 PHKA2 Homo sapiens P46019
Anti Tag CoIP
35271311
种属内
PHKG2 P15735 PHKA2 Homo sapiens P46019
Y2H Prey Pooling
32296183
种属内
PHKG2 P15735 PHKA2 Homo sapiens P46019
Anti Tag CoIP
26496610
种属内
PHKG2 P15735 PHKA2 Homo sapiens P46019
TAP
23455922
种属内
PHKG2 P15735 PHKA2 Homo sapiens P46019
Validated Y2H
32296183
种属内
PHKG2 P15735 PHKA2 Homo sapiens P46019
Anti Tag CoIP
28514442
种属内
PHKG2 P15735 MAGEA2 Homo sapiens P43356
Validated Y2H
32296183
种属内
PHKG2 P15735 MAGEA2 Homo sapiens P43356
Y2H Array
32296183
种属内
PHKG2 P15735 MAGEA2 Homo sapiens P43356
Y2H Prey Pooling
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Glycogen Storage Disease Ixc

GSD9C

Glycogen Storage Disease Type Ixc

Gsd Ixc

Glycogen Storage Disease Type 9c

Glycogenosis Type 9c

Glycogenosis Type Ixc

Gsd Type 9c

Gsd Type Ixc

Glycogen Storage Disease 9c

Alg

Autosomal Liver Glycogenosis

Gsd-Ixc

Storage Disease, Glycogen, Type Ixc
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency

Gsd Due To Liver Phosphorylase Kinase Deficiency

Gsd Type 9a

Gsd Type 9c

Gsd Type Ixa

Gsd Type Ixc

Glycogen Storage Disease Type 9a

Glycogen Storage Disease Type 9c

Glycogen Storage Disease Type Ixa

Glycogen Storage Disease Type Ixc

Glycogenosis Due To Liver Phosphorylase Kinase Deficiency

Glycogenosis Type 9a

Glycogenosis Type 9c

Glycogenosis Type Ixa

Glycogenosis Type Ixc

Xlg
Glycogen Storage Disease

Glycogenosis

Glycogenoses

Gsd

Storage Disease, Glycogen

Gsd - [Glycogen Storage Disease]

Glycogen Thesaurismosis

Diffuse Glycogenosis

Generalised Glycogen Storage Disease

Generalised Glycogenosis

Generalised Glycogen Storage Disease Of Infants

Glycogen Synthase Deficiency
Glycogen Storage Disease Ix
Glycogen Storage Disease Ixb

GSD9B

Gsd Ixb

Phosphorylase Kinase Deficiency Of Liver And Muscle, Autosomal Recessive

Glycogen Storage Disease Type 9b

Glycogen Storage Disease Type Ixb

Glycogenosis Due To Liver And Muscle Phosphorylase Kinase Deficiency

Glycogenosis Type 9b

Glycogenosis Type Ixb

Gsd Due To Liver And Muscle Phosphorylase Kinase Deficiency

Gsd Type 9b

Gsd Type Ixb

Glycogenosis Of Liver And Muscle, Autosomal Recessive

Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency

Glycogen Storage Disease 9b

Gsd-Ixb

Phosphorylase Kinase Deficiency Of Liver And Muscle

Storage Disease, Glycogen, Type Ixb
Phosphorylase Kinase Deficiency

Glycogen Storage Disease Type Ix

Gsdix

Phk Deficiency

Phosphorylase B Kinase Deficiency

Gsd Ix

Glycogen Storage Disease, Type Ix

Deficiency Of Phosphorylase Kinase
Glycogen Storage Disease Ixa

Glycogen Storage Disease Type 9a

Glycogen Storage Disease Type Ixa

Glycogenosis Type 9a

Glycogenosis Type Ixa

Gsd Type 9a

Gsd Type Ixa

Gsd9a
Glycogen Storage Disease Ixd

GSD9D

Gsd Ixd

Muscle Phosphorylase Kinase Deficiency

Muscle Glycogenosis

Glycogen Storage Disease Due To Muscle Phosphorylase Kinase Deficiency

Glycogen Storage Disease Type 9d

Glycogen Storage Disease Type 9e

Glycogen Storage Disease Type Ixd

Glycogen Storage Disease Type Ixe

Glycogenosis Due To Muscle Phosphorylase Kinase Deficiency

Glycogenosis Type 9d

Glycogenosis Type 9e

Glycogenosis Type Ixd

Glycogenosis Type Ixe

Gsd Due To Muscle Phosphorylase Kinase Deficiency

Gsd Type 9d

Gsd Type 9e

Gsd Type Ixd

Gsd Type Ixe

Muscle Glycogenosis, X-Linked

X-Linked Muscke Glycogenosis

Glycogen Storage Disease 9d

X-Linked Muscle Glycogenosis

Storage Disease, Glycogen, Type Ixd
Glycogen Storage Disease Ia

Von Gierke Disease

Glycogen Storage Disease Type I

Glycogen Storage Disease I

Hepatorenal Form Of Glycogen Storage Disease

Hepatorenal Glycogenosis

Glucose-6-Phosphatase Deficiency

Glycogen Storage Disease, Type I

Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ia

GSD1A

Gsd1

Von Gierke'S Disease

Glycogen Storage Disease Type 1a

Glycogen Storage Disease 1a

Glucose-6-Phosphate Transport Defect

Gsd Ia

Deficiency Of Glucose-6-Phosphatase

Glycogenosis Type I

Glucose-6-Phosphatase Deficiency Glycogen Storage Disease

Glycogenosis Type 1

Glucose-6-Phosphate Deficiency

Gsd I

Gsd Type I

G6p Deficiency Type 1a

Gsd Due To G6p Deficiency Type 1a

Gsd Due To G6p Deficiency Type Ia

Gsd Type 1a

Gsdia

Glycogen Storage Disease Due To G6p Deficiency Type Ia

Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type 1a

Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type Ia

Glycogenosis Type Ia

Gsd-Ia

Storage Disease, Glycogen, Type 1a

Glycogen Storage Disease Type Ia
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10441 PHKG2 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS22727 Phkg2 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS29241 Phkg2 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris PHKG2 VGNC VGNC:44500
Rattus norvegicus PHKG2 RGD RGD:620024
Felis catus PHKG2 VGNC VGNC:68829
Bos taurus PHKG2 VGNC VGNC:32834
Macaca mulatta PHKG2 VGNC VGNC:75981
Mus musculus PHKG2 MGD MGI:1916211
Others PHKG2 NCBI
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