PHKA2 - phosphorylase kinase regulatory subunit alpha 2 Gene

Homo sapiens

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

Gene ID: 5256 | Gene type: protein coding

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	Reference	Source
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

0
200
400
600
800
1000
1235 a.a.

Protein Preferred Names

Protein Names

phosphorylase b kinase regulatory subunit alpha, liver isoform

phosphorylase kinase alpha L subunit

Related Diseases

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10438	PHKA2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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