PHKA2 - phosphorylase kinase regulatory subunit alpha 2 Gene

Also Known as PHK; PYK; XLG; PYKL; XLG2; GSD9A

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 5256

About 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.

Summary

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 Products (1)

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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	23455922	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PHKA2 Protein Structure

Glyco_hydro_15

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1000
1235 a.a.

Protein Preferred Names	Protein Names
phosphorylase b kinase regulatory subunit alpha, liver isoform	phosphorylase kinase alpha L subunit

PHKA2 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	PHKA2	P46019	PHKB	Homo sapiens	Q93100-4	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS10438	PHKA2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	PHKA2	NCBI