ENSG00000044446


Homo sapiens

Features
Gene ID: ENSG00000044446
  
Biological name :PHKA2
  
Synonyms : P46019 / PHKA2 / phosphorylase kinase regulatory subunit alpha 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: -1
Band: p22.13
Gene start: 18892300
Gene end: 18984598
  
Corresponding Affymetrix probe sets: 1559705_s_at (Human Genome U133 Plus 2.0 Array)   209438_at (Human Genome U133 Plus 2.0 Array)   209439_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000369274
NCBI entrez gene - 5256     See in Manteia.
OMIM - 300798
RefSeq - XM_017029580
RefSeq - NM_000292
RefSeq - XM_011545537
RefSeq - XM_011545538
RefSeq - XM_005274548
RefSeq - XM_005274550
RefSeq - XM_006724496
RefSeq - XM_006724498
RefSeq Peptide - NP_000283
swissprot - P46019
Ensembl - ENSG00000044446
  
Related genetic diseases (OMIM): 306000 - Glycogen storage disease, type IXa1, 306000
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 phka2ENSDARG00000030687Danio rerio
 PHKA2ENSGALG00000016518Gallus gallus
 Phka2ENSMUSG00000031295Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PHKA1 / P46020 / phosphorylase kinase regulatory subunit alpha 1ENSG0000006717768
PHKB / Q93100 / phosphorylase kinase regulatory subunit betaENSG0000010289332


Protein motifs (from Interpro)
Interpro ID Name
 IPR008734  Phosphorylase kinase alpha/beta subunit
 IPR008928  Six-hairpin glycosidase superfamily
 IPR011613  GH15-like domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0005975 carbohydrate metabolic process TAS
 biological_processGO:0005977 glycogen metabolic process IEA
 biological_processGO:0005980 glycogen catabolic process TAS
 biological_processGO:0006091 generation of precursor metabolites and energy TAS
 biological_processGO:0006464 cellular protein modification process TAS
 biological_processGO:0006468 protein phosphorylation IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005964 phosphorylase kinase complex TAS
 cellular_componentGO:0016020 membrane IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004689 phosphorylase kinase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005516 calmodulin binding IEA


Pathways (from Reactome)
Pathway description
Glycogen breakdown (glycogenolysis)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0001270 Motor retardation 
Show

 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
Show

 HP:0001510 Growth retardation 
Show

 HP:0001943 Hypoglycemia "A lower than normal level of blood glucose." [HPO:curators]
Show

 HP:0001946 Ketosis 
Show

 HP:0002155 Hypertriglyceridemia 
Show

 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
Show

 HP:0002910 Elevated transaminases "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators]
Show

 HP:0003124 Hypercholesterolemia 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000102893 PHKB / Q93100 / phosphorylase kinase regulatory subunit beta  / complex
 ENSG00000198668 CALM1 / P0DP23 / calmodulin 1  / complex
 ENSG00000156873 PHKG2 / P15735 / phosphorylase kinase catalytic subunit gamma 2  / complex
 ENSG00000100504 PYGL / P06737 / glycogen phosphorylase L  / reaction
 ENSG00000044446 PHKA2 / P46019 / phosphorylase kinase regulatory subunit alpha 2  / complex






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr