ENSG00000102893


Homo sapiens

Features
Gene ID: ENSG00000102893
  
Biological name :PHKB
  
Synonyms : PHKB / phosphorylase kinase regulatory subunit beta / Q93100
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: 1
Band: q12.1
Gene start: 47461123
Gene end: 47701523
  
Corresponding Affymetrix probe sets: 202738_s_at (Human Genome U133 Plus 2.0 Array)   202739_s_at (Human Genome U133 Plus 2.0 Array)   238601_at (Human Genome U133 Plus 2.0 Array)   242248_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000460408
Ensembl peptide - ENSP00000459287
Ensembl peptide - ENSP00000461770
Ensembl peptide - ENSP00000299167
Ensembl peptide - ENSP00000313504
Ensembl peptide - ENSP00000455664
Ensembl peptide - ENSP00000456729
Ensembl peptide - ENSP00000457905
Ensembl peptide - ENSP00000458446
Ensembl peptide - ENSP00000458581
Ensembl peptide - ENSP00000458961
NCBI entrez gene - 5257     See in Manteia.
OMIM - 172490
RefSeq - XM_017023284
RefSeq - NM_000293
RefSeq - NM_001031835
RefSeq - XM_005255983
RefSeq - XM_005255984
RefSeq - XM_017023282
RefSeq - XM_017023283
RefSeq Peptide - NP_000284
RefSeq Peptide - NP_001027005
swissprot - A0A0G2JLB9
swissprot - H3BQ89
swissprot - H3BV13
swissprot - I3L0Z1
swissprot - I3L1N3
swissprot - I3L213
swissprot - I3NHZ9
swissprot - I3L3F2
swissprot - Q93100
Ensembl - ENSG00000102893
  
Related genetic diseases (OMIM): 261750 - Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750
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
 phkbENSDARG00000078284Danio rerio
 PHKBENSGALG00000004004Gallus gallus
 PhkbENSMUSG00000036879Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PHKA2 / P46019 / phosphorylase kinase regulatory subunit alpha 2ENSG0000004444636
PHKA1 / P46020 / phosphorylase kinase regulatory subunit alpha 1ENSG0000006717735


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 IEA
 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:0006468 protein phosphorylation IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005964 phosphorylase kinase complex IEA
 cellular_componentGO:0016020 membrane IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004689 phosphorylase kinase activity IEA
 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:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
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 HP:0002014 Diarrhea 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0006568 Increased liver glycogen content 
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 HP:0009051 Increased muscle glycogen content "An increased amount of glycogen, which functions as a secondary short term energy storage in several organs, in muscle tissue." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000164776 PHKG1 / Q16816 / phosphorylase kinase catalytic subunit gamma 1  / complex
 ENSG00000100994 PYGB / P11216 / glycogen phosphorylase B  / reaction
 ENSG00000100504 PYGL / P06737 / glycogen phosphorylase L  / reaction
 ENSG00000156873 PHKG2 / P15735 / phosphorylase kinase catalytic subunit gamma 2  / complex
 ENSG00000044446 PHKA2 / P46019 / phosphorylase kinase regulatory subunit alpha 2  / complex
 ENSG00000068976 PYGM / P11217 / glycogen phosphorylase, muscle associated  / reaction
 ENSG00000102893 PHKB / Q93100 / phosphorylase kinase regulatory subunit beta  / complex
 ENSG00000067177 PHKA1 / P46020 / phosphorylase kinase regulatory subunit alpha 1  / complex
 ENSG00000198668 CALM1 / P0DP23 / calmodulin 1  / complex






 

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