ENSG00000072062
Homo sapiens protein PRKACA regulation kinase binding activity signaling phosphorylation mitotic cell ion activation cellular response membrane pathway cardiac muscle calcium stimulus gli domain serine g m transition cycle homeostasis assembly involved centrosome
Features Gene ID: ENSG00000072062 Biological name :PRKACA Synonyms : P17612 / PRKACA / protein kinase cAMP-activated catalytic subunit alpha Possible biological names infered from orthology : Species: Homo sapiens Chr. number: 19 Strand: -1 Band: p13.12 Gene start: 14091688 Gene end: 14118084 Corresponding Affymetrix probe sets: 202801_at (Human Genome U133 Plus 2.0 Array) 216234_s_at (Human Genome U133 Plus 2.0 Array) Cross references: Ensembl peptide - ENSP00000466976 Ensembl peptide - ENSP00000466660 Ensembl peptide - ENSP00000468352 Ensembl peptide - ENSP00000309591 Ensembl peptide - ENSP00000466289 Ensembl peptide - ENSP00000466651 NCBI entrez gene - 5566
See in Manteia .
OMIM - 601639 RefSeq - XM_017026948 RefSeq - NM_001304349 RefSeq - NM_002730 RefSeq - NM_207518 RefSeq Peptide - NP_001291278 RefSeq Peptide - NP_002721 RefSeq Peptide - NP_997401 swissprot - K7EMV1 swissprot - K7ENJ5 swissprot - P17612 swissprot - K7ERP6 swissprot - Q15136 swissprot - A0A024R7J0 Ensembl - ENSG00000072062 Related genetic diseases (OMIM): 615830 - Cushing syndrome, ACTH-independent adrenal, somatic, 615830
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 )
Paralog prediction (from Ensembl ) P22694 / PRKACB / protein kinase cAMP-activated catalytic subunit beta ENSG00000142875 91 P22612 / PRKACG / protein kinase cAMP-activated catalytic subunit gamma ENSG00000165059 84 PRKX / P51817 / protein kinase, X-linked ENSG00000183943 48 PRKG2 / Q13237 / protein kinase, cGMP-dependent, type II ENSG00000138669 43 PRKG1 / Q13976 / protein kinase, cGMP-dependent, type I ENSG00000185532 43
Protein motifs (from Interpro )
Gene Ontology (GO ) cell cycle anatomical structure development regulation of biological quality system process response to stress immune response cell communication cellular response to stimulus nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process coagulation establishment of localization cellular localization catabolic process process utilizing autophagic mechanism response to chemical regulation of molecular function cellular component organization cellular component biogenesis response to abiotic stimulus cellular developmental process ossification macromolecule localization multicellular organism reproduction developmental maturation response to endogenous stimulus multicellular organismal signaling membrane docking cell cycle anatomical structure development regulation of biological quality system process response to stress immune response cell communication cellular response to stimulus nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process coagulation establishment of localization cellular localization catabolic process process utilizing autophagic mechanism response to chemical regulation of molecular function cellular component organization cellular component biogenesis response to abiotic stimulus cellular developmental process ossification macromolecule localization multicellular organism reproduction developmental maturation response to endogenous stimulus multicellular organismal signaling membrane docking cell cycle anatomical structure development regulation of biological quality system process response to stress immune response cell communication cellular response to stimulus nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process coagulation establishment of localization cellular localization catabolic process process utilizing autophagic mechanism response to chemical regulation of molecular function cellular component organization cellular component biogenesis response to abiotic stimulus cellular developmental process ossification macromolecule localization multicellular organism reproduction developmental maturation response to endogenous stimulus multicellular organismal signaling membrane docking cell cycle anatomical structure development regulation of biological quality system process response to stress immune response cell communication cellular response to stimulus nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process coagulation establishment of localization cellular localization catabolic process process utilizing autophagic mechanism response to chemical regulation of molecular function cellular component organization cellular component biogenesis response to abiotic stimulus cellular developmental process ossification macromolecule localization multicellular organism reproduction developmental maturation response to endogenous stimulus multicellular organismal signaling membrane docking cell cycle anatomical structure development regulation of biological quality system process response to stress immune response cell communication cellular response to stimulus nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process coagulation establishment of localization cellular localization catabolic process process utilizing autophagic mechanism response to chemical regulation of molecular function cellular component organization cellular component biogenesis response to abiotic stimulus cellular developmental process ossification macromolecule localization multicellular organism reproduction developmental maturation response to endogenous stimulus multicellular organismal signaling membrane docking cell cycle anatomical structure development regulation of biological quality system process response to stress immune response cell communication cellular response to stimulus nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process coagulation establishment of localization cellular localization catabolic process process utilizing autophagic mechanism response to chemical regulation of molecular function cellular component organization cellular component biogenesis response to abiotic stimulus cellular developmental process ossification macromolecule localization multicellular organism reproduction developmental maturation response to endogenous stimulus multicellular organismal signaling membrane docking cell cycle anatomical structure development regulation of biological quality system process response to stress immune response cell communication cellular response to stimulus nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process coagulation establishment of localization cellular localization catabolic process process utilizing autophagic mechanism response to chemical regulation of molecular function cellular component organization cellular component biogenesis response to abiotic stimulus cellular developmental process ossification macromolecule localization multicellular organism reproduction developmental maturation response to endogenous stimulus multicellular organismal signaling membrane docking cell cycle anatomical structure development regulation of biological quality system process response to stress immune response cell communication cellular response to stimulus nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process coagulation establishment of localization cellular localization catabolic process process utilizing autophagic mechanism response to chemical regulation of molecular function cellular component organization cellular component biogenesis response to abiotic stimulus cellular developmental process ossification macromolecule localization multicellular organism reproduction developmental maturation response to endogenous stimulus multicellular organismal signaling membrane docking cell cycle anatomical structure development regulation of biological quality system process response to stress immune response cell communication cellular response to stimulus nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process coagulation establishment of localization cellular localization catabolic process process utilizing autophagic mechanism response to chemical regulation of molecular function cellular component organization cellular component biogenesis response to abiotic stimulus cellular developmental process ossification macromolecule localization multicellular organism reproduction developmental maturation response to endogenous stimulus multicellular organismal signaling membrane docking cell cycle anatomical structure development regulation of biological quality system process response to stress immune response cell communication cellular response to stimulus nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process coagulation establishment of localization cellular localization catabolic process process utilizing autophagic mechanism response to chemical regulation of molecular function cellular component organization cellular component biogenesis response to abiotic stimulus cellular developmental process ossification macromolecule localization multicellular organism reproduction developmental maturation response to endogenous stimulus multicellular organismal signaling membrane docking cellcell cycle anatanatomical structure development reguregulation of biological quality systsystem process respresponse to stress immuimmune response cellcell communication cellcellular response to stimulus nitrnitrogen compound metabolic process cellcellular metabolic process primprimary metabolic process orgaorganic substance metabolic process coagcoagulation estaestablishment of localization cellcellular localization catacatabolic process procprocess utilizing autophagic mechanism respresponse to chemical reguregulation of molecular function cellcellular component organization cellcellular component biogenesis respresponse to abiotic stimulus cellcellular developmental process ossiossification macrmacromolecule localization multmulticellular organism reproduction devedevelopmental maturation respresponse to endogenous stimulus multmulticellular organismal signaling membmembrane docking organic cyclic compound binding heterocyclic compound binding small molecule binding ion binding catalytic activity, acting on a protein transferase activity protein binding carbohydrate derivative binding drug binding organic cyclic compound binding heterocyclic compound binding small molecule binding ion binding catalytic activity, acting on a protein transferase activity protein binding carbohydrate derivative binding drug binding organic cyclic compound binding heterocyclic compound binding small molecule binding ion binding catalytic activity, acting on a protein transferase activity protein binding carbohydrate derivative binding drug binding organic cyclic compound binding heterocyclic compound binding small molecule binding ion binding catalytic activity, acting on a protein transferase activity protein binding carbohydrate derivative binding drug binding organic cyclic compound binding heterocyclic compound binding small molecule binding ion binding catalytic activity, acting on a protein transferase activity protein binding carbohydrate derivative binding drug binding organic cyclic compound binding heterocyclic compound binding small molecule binding ion binding catalytic activity, acting on a protein transferase activity protein binding carbohydrate derivative binding drug binding organic cyclic compound binding heterocyclic compound binding small molecule binding ion binding catalytic activity, acting on a protein transferase activity protein binding carbohydrate derivative binding drug binding organic cyclic compound binding heterocyclic compound binding small molecule binding ion binding catalytic activity, acting on a protein transferase activity protein binding carbohydrate derivative binding drug binding organic cyclic compound binding heterocyclic compound binding small molecule binding ion binding catalytic activity, acting on a protein transferase activity protein binding carbohydrate derivative binding drug binding organic cyclic compound binding heterocyclic compound binding small molecule binding ion binding catalytic activity, acting on a protein transferase activity protein binding carbohydrate derivative binding drug binding organic cyclic organic cyclic compound binding heterocyclic coheterocyclic compound binding small molecule small molecule binding ion bindingion binding catalytic activcatalytic activity, acting on a protein transferase acttransferase activity protein bindingprotein binding carbohydrate decarbohydrate derivative binding drug bindingdrug binding cell organelle membrane-enclosed lumen membrane protein-containing complex synapse extracellular region cell organelle membrane-enclosed lumen membrane protein-containing complex synapse extracellular region cell organelle membrane-enclosed lumen membrane protein-containing complex synapse extracellular region cell organelle membrane-enclosed lumen membrane protein-containing complex synapse extracellular region cell organelle membrane-enclosed lumen membrane protein-containing complex synapse extracellular region cell organelle membrane-enclosed lumen membrane protein-containing complex synapse extracellular region cell organelle membrane-enclosed lumen membrane protein-containing complex synapse extracellular region cell organelle membrane-enclosed lumen membrane protein-containing complex synapse extracellular region cell organelle membrane-enclosed lumen membrane protein-containing complex synapse extracellular region cell organelle membrane-enclosed lumen membrane protein-containing complex synapse extracellular region cellcell organelleorganelle membrane-enclosed lumembrane-enclosed lumen membranemembrane protein-containing cprotein-containing complex synapsesynapse extracellular regionextracellular region
Pathways (from Reactome )
Phenotype (from MGI , Zfin or HPO ) Genitourinary abnormality Endocrine abnormality Neurological abnormality Metabolism abnormality Abnormality of the cardiovascular system Abnormality of the musculoskeletal system Integument abnormality Hematological abnormality Immunological abnormality Abnormality of musculature Growth abnormality Constitutional symptom Abnormality of connective tissue Head and neck abnormality Genitourinary abnormality Endocrine abnormality Neurological abnormality Metabolism abnormality Abnormality of the cardiovascular system Abnormality of the musculoskeletal system Integument abnormality Hematological abnormality Immunological abnormality Abnormality of musculature Growth abnormality Constitutional symptom Abnormality of connective tissue Head and neck abnormality Genitourinary abnormality Endocrine abnormality Neurological abnormality Metabolism abnormality Abnormality of the cardiovascular system Abnormality of the musculoskeletal system Integument abnormality Hematological abnormality Immunological abnormality Abnormality of musculature Growth abnormality Constitutional symptom Abnormality of connective tissue Head and neck abnormality Genitourinary abnormality Endocrine abnormality Neurological abnormality Metabolism abnormality Abnormality of the cardiovascular system Abnormality of the musculoskeletal system Integument abnormality Hematological abnormality Immunological abnormality Abnormality of musculature Growth abnormality Constitutional symptom Abnormality of connective tissue Head and neck abnormality Genitourinary abnormality Endocrine abnormality Neurological abnormality Metabolism abnormality Abnormality of the cardiovascular system Abnormality of the musculoskeletal system Integument abnormality Hematological abnormality Immunological abnormality Abnormality of musculature Growth abnormality Constitutional symptom Abnormality of connective tissue Head and neck abnormality Genitourinary abnormality Endocrine abnormality Neurological abnormality Metabolism abnormality Abnormality of the cardiovascular system Abnormality of the musculoskeletal system Integument abnormality Hematological abnormality Immunological abnormality Abnormality of musculature Growth abnormality Constitutional symptom Abnormality of connective tissue Head and neck abnormality Genitourinary abnormality Endocrine abnormality Neurological abnormality Metabolism abnormality Abnormality of the cardiovascular system Abnormality of the musculoskeletal system Integument abnormality Hematological abnormality Immunological abnormality Abnormality of musculature Growth abnormality Constitutional symptom Abnormality of connective tissue Head and neck abnormality Genitourinary abnormality Endocrine abnormality Neurological abnormality Metabolism abnormality Abnormality of the cardiovascular system Abnormality of the musculoskeletal system Integument abnormality Hematological abnormality Immunological abnormality Abnormality of musculature Growth abnormality Constitutional symptom Abnormality of connective tissue Head and neck abnormality Genitourinary abnormality Endocrine abnormality Neurological abnormality Metabolism abnormality Abnormality of the cardiovascular system Abnormality of the musculoskeletal system Integument abnormality Hematological abnormality Immunological abnormality Abnormality of musculature Growth abnormality Constitutional symptom Abnormality of connective tissue Head and neck abnormality Genitourinary abnormality Endocrine abnormality Neurological abnormality Metabolism abnormality Abnormality of the cardiovascular system Abnormality of the musculoskeletal system Integument abnormality Hematological abnormality Immunological abnormality Abnormality of musculature Growth abnormality Constitutional symptom Abnormality of connective tissue Head and neck abnormality GenitourinGenitourinary abnormality Endocrine Endocrine abnormality NeurologicNeurological abnormality MetabolismMetabolism abnormality AbnormalitAbnormality of the cardiovascular system AbnormalitAbnormality of the musculoskeletal system IntegumentIntegument abnormality HematologiHematological abnormality ImmunologiImmunological abnormality AbnormalitAbnormality of musculature Growth abnGrowth abnormality ConstitutiConstitutional symptom AbnormalitAbnormality of connective tissue Head and nHead and neck abnormality HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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HP:0000135 Hypogonadism "Reduced function of the gonads (testes in males or ovaries in females)." [HPO:curators]
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HP:0000712 Emotional lability
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HP:0000716 Depression "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators]
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HP:0000819 Diabetes mellitus
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HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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HP:0000938 Osteopenia "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators]
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HP:0000939 Osteoporosis "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators]
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HP:0000963 Thin skin
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HP:0000978 Ecchymoses
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HP:0001007 Hirsutism "Abnormally increased hair growth." [HPO:curators]
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HP:0001030 Fragile skin
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HP:0001061 Acne
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HP:0001065 Striae distensae "Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders." [HPO:curators]
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HP:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
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HP:0001533 Asthenic habitus "Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones." [HPO:curators]
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HP:0001579 ACTH-independent hypercortisolemia
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HP:0001580 Pigmented micronodular adrenocortical disease
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HP:0001596 Alopecia "Loss of hair from the head or body." [HPO:curators]
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HP:0002659 Increased susceptibility to fractures "An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture." [HPO:sdoelken]
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HP:0003198 Myopathy
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HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
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HP:0003701 Proximal muscle weakness "A lack of strength of the proximal muscles." [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:0004324 Increased body weight
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HP:0008221 Enlarged adrenal glands
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HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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HP:0025383 Dorsocervical fat pad "An area of fat accumulation at the backof the next in the form of a hump." [PMID:22301856]
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HP:0500011 Moon facies "A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin." [HPO:probinson]
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Interacting proteins (from Reactome ) ENSG00000108599 AKAP10 / O43572 / A-kinase anchoring protein 10 / complex / reaction ENSG00000121057 AKAP1 / Q92667 / A-kinase anchoring protein 1 / complex / reaction ENSG00000167580 AQP2 / P41181 / aquaporin 2 / reaction ENSG00000111087 GLI1 / P08151 / GLI family zinc finger 1 / reaction ENSG00000109320 NFKB1 / P19838 / nuclear factor kappa B subunit 1 / reaction ENSG00000113525 IL5 / P05113 / interleukin 5 / reaction ENSG00000079435 LIPE / Q05469 / lipase E, hormone sensitive type / reaction ENSG00000091181 IL5RA / Q01344 / interleukin 5 receptor subunit alpha / reaction ENSG00000100368 CSF2RB / P32927 / colony stimulating factor 2 receptor beta common subunit / reaction ENSG00000114302 P13861 / PRKAR2A / protein kinase cAMP-dependent type II regulatory subunit alpha / complex ENSG00000005249 P31323 / PRKAR2B / protein kinase cAMP-dependent type II regulatory subunit beta / complex ENSG00000132359 Q684P5 / RAP1GAP2 / RAP1 GTPase activating protein 2 / reaction ENSG00000009950 MLXIPL / Q9NP71 / MLX interacting protein like / reaction ENSG00000173039 RELA / Q04206 / RELA proto-oncogene, NF-kB subunit / reaction ENSG00000164399 IL3 / P08700 / interleukin 3 / reaction ENSG00000164400 CSF2 / P04141 / colony stimulating factor 2 / reaction ENSG00000169057 MECP2 / P51608 / methyl-CpG binding protein 2 / reaction ENSG00000166819 PLIN1 / O60240 / perilipin 1 / reaction ENSG00000140575 IQGAP1 / P46940 / IQ motif containing GTPase activating protein 1 / complex ENSG00000072062 P17612 / PRKACA / protein kinase cAMP-activated catalytic subunit alpha / complex ENSG00000184588 PDE4B / Q07343 / phosphodiesterase 4B / reaction ENSG00000185008 ROBO2 / Q9HCK4 / roundabout guidance receptor 2 / complex / reaction ENSG00000185291 IL3RA / P26951 / interleukin 3 receptor subunit alpha / reaction ENSG00000074047 GLI2 / P10070 / GLI family zinc finger 2 / reaction ENSG00000179841 AKAP5 / P24588 / A-kinase anchoring protein 5 / complex / reaction ENSG00000198223 CSF2RA / P15509 / colony stimulating factor 2 receptor alpha subunit / reaction ENSG00000188191 P31321 / PRKAR1B / protein kinase cAMP-dependent type I regulatory subunit beta / complex ENSG00000129991 TNNI3 / P19429 / troponin I3, cardiac type / reaction ENSG00000108946 P10644 / PRKAR1A / protein kinase cAMP-dependent type I regulatory subunit alpha / complex ENSG00000198523 PLN / P26678 / phospholamban / reaction ENSG00000118260 CREB1 / P16220 / cAMP responsive element binding protein 1 / reaction ENSG00000107882 SUFU / Q9UMX1 / SUFU negative regulator of hedgehog signaling / reaction ENSG00000142875 P22694 / PRKACB / protein kinase cAMP-activated catalytic subunit beta / complex ENSG00000165029 ABCA1 / O95477 / ATP binding cassette subfamily A member 1 / reaction ENSG00000158571 P16118 / PFKFB1 / 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 / reaction ENSG00000096968 JAK2 / O60674 / Janus kinase 2 / reaction ENSG00000106571 GLI3 / P10071 / GLI family zinc finger 3 / reaction ENSG00000089022 Q8IW41 / MAPKAPK5 / mitogen-activated protein kinase-activated protein kinase 5 / reaction ENSG00000165059 P22612 / PRKACG / protein kinase cAMP-activated catalytic subunit gamma / complex
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