2. Gene
  3. PHKA2 - phosphorylase kinase regulatory subunit alpha 2 Gene

PHKA2 - phosphorylase kinase regulatory subunit alpha 2 Gene

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

中文名称：磷酸化酶激酶调节亚基 alpha 2

种属: Homo sapiens

同用名: PHK; PYK; XLG; PYKL; XLG2; GSD9A

基因 ID: 5256 | 基因类型: protein coding

关于 PHKA2

Cytogenetic location: Xp22.13 Genomic coordinates (GRCh38): X:18,892,298-18,984,114 (from NCBI)

This gene has 8 transcripts (splice variants), 206 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in fat (RPKM 8.9), ovary (RPKM 8.4) and 25 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亚型，肝亚型由该基因编码。 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脏亚型，它们由两个不同的基因编码。 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糖原贮积病 9A 型，也称为 X 连锁肝糖原增多症。选择性剪接的转录本变体已被报道，但这些变体的全长性质尚未确定。[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, and the hepatic isoform is encoded by this gene. 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, which are encoded by two different genes. 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 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010]

PHKA2 基因产物(1)

mRNA Protein Name
NM_000292.3 NP_000283.1 phosphorylase b kinase regulatory subunit alpha, liver isoform
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

PHKA2 蛋白结构

Glyco_hydro_15

Glyco_hydro_15: Glycosyl hydrolases family 15 (8 - 919)

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  • 1235 a.a.
蛋白主名 其他名称

phosphorylase b kinase regulatory subunit alpha, liver isoform

phosphorylase kinase alpha L subunit

PHKA2 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
PHKA2 P46019 PHKB Homo sapiens Q93100-4
Validated Y2H
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 Ixa1

GSD9A1

Glycogen Storage Disease, Type Ixa1

Glycogen Storage Disease, Type Ixa2

Glycogen Storage Disease Ixa2

Liver Glycogenosis, X-Linked, Type I

Xlg1

Glycogen Storage Disease Viii, Formerly

Gsd Viii, Formerly

Gsd8, Formerly

Glycogen Storage Disease 9a

GSD9A

Glycogen Storage Disease Ixa

Glycogen Storage Disease Via

Glycogen Storage Disease Viii

Gsd9a2

Gsd-Ixa

Gsd-Via

Gsd-Viii

Hepatic Phosphorylase Kinase Deficiency

Xlg

X-Linked Liver Glycogenosis

X-Linked Liver Glycogenosis Type I

X-Linked Liver Glycogenosis Type Ii

Storage Disease, Glycogen, Type Ixa1

Glycogen Storage Disease, Type Ix

Glycogen Storage Disease Type Viii
Glycogen Storage Disease Viii

Glycogen Storage Disease Type Viii

Glycogenosis Type Viii

Glycogen Storage Disease 8

Hepatic Glycogen Phosphorylase Kinase Deficiency

Glycogenosis Type 8

Hepatic Phosphorylase Kinase Deficiency

Pykl

Phosphorylase Kinase Deficiency Of Liver

Glycogen Storage Disease, Type Ix
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
Aland Island Eye Disease

AIED

Forsius-Eriksson Type Ocular Albinism

Forsius-Eriksson Syndrome

Autoimmune Inner Ear Disease

Forsius Eriksson Type Ocular Albinism

Aland Islands Eye Disease

Aaland Island Eye Disease

Ocular Albinism, Type Ii
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

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 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 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
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
Coffin-Lowry Syndrome

CLS

Coffin Syndrome 1

Coffin Syndrome

Intellectual Disability With Osteocartilaginous Abnormalities

Dwarfism, Lean Spastic Type

Lean Spastic Dwarfism

Mental Retardation With Osteocartilaginous Abnormalities

Coffin Lowry Syndrome
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 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
Fanconi Syndrome

Infantile Nephropathic Cystinosis

Adult Fanconi Syndrome

Congenital Fanconi Syndrome

De Toni-Fanconi Syndrome

Fanconi-De Toni Syndrome

Lignac-Fanconi Syndrome

Fanconi Renotubular Syndrome

Primary Fanconi Renotubular Syndrome

De Toni-Debre-Fanconi Syndrome

Adult Fanconi Anemia

Detoni Fanconi Syndrome

Fanconi-De-Toni Syndrome

Primary Fanconi Syndrome

Detoni-Debre-Fanconi Syndrome

Primary Fanconi Renal Syndrome

Fanconi Anemia

Cystinosis, Infantile Nephropathic

Fanconi-Bickel Syndrome

Renal Fanconi Syndrome

Lowe-Bickel Syndrome
Schuurs-Hoeijmakers Syndrome

SHMS

Pacs1-Related Syndrome

Mrd17

Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome

Intellectual Developmental Disorder, Autosomal Dominant 17

Autosomal Dominant Intellectual Disability-17

Autosomal Dominant Mental Retardation 17

Pacs1 Syndrome

Mental Retardation, Autosomal Dominant 17
Myopathy

Muscular Diseases

Myopathies
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly

Asphyxiating Thoracic Dystrophy 1

Jeune Syndrome

SRTD1

Atd1

Asphyxiating Thoracic Dystrophy Of The Newborn

Jatd

Jeune Asphyxiating Thoracic Dystrophy

Thoracic-Pelvic-Phalangeal Dystrophy

Atd

Asphyxiating Thoracic Dystrophy

Chondroectodermal Dysplasia-Like Syndrome

Infantile Thoracic Dystrophy

Jeune'S Syndrome

Thoracic Pelvic Phalangeal Dystrophy

Jeune Thoracic Dystrophy
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10438 PHKA2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta PHKA2 VGNC VGNC:75978
Bos taurus PHKA2 VGNC VGNC:32831
Felis catus PHKA2 VGNC VGNC:68826
Canis familiaris PHKA2 VGNC VGNC:44497
Mus musculus PHKA2 MGD MGI:97577
Rattus norvegicus PHKA2 RGD RGD:1596945
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