PHKA2

GENERAL INFORMATION

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Gene name

PHKA2

Gene description

Phosphorylase kinase, alpha 2 (liver)

Protein class

Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

1
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly not consistent with RNA expression data. Pending external verification.

Data reliability

Uncertain based on 1 antibody.
HPA002912
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

PHKA2 (HGNC Symbol)

Synonyms

PHK, PYK

Description

Phosphorylase kinase, alpha 2 (liver) (HGNC Symbol)

Entrez gene 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]

Chromosome

X

Cytoband

p22.13

Chromosome location (bp)

18892300 - 18984598

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000044446 (version 78.38)

Entrez gene

5256

UniProt

P46019 (UniProt - Evidence at protein level)

neXtProt

NX_P46019

Antibodypedia

PHKA2 antibodies


PROTEIN BROWSER

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ENST00000379942
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PHKA2-001 ENSP00000369274
ENST00000379942
P46019
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