Details for: PHKG2

Gene ID: 5261

Symbol: PHKG2

Ensembl ID: ENSG00000156873

Description: phosphorylase kinase catalytic subunit gamma 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 103.2497
    Cell Significance Index: -16.0600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 63.7903
    Cell Significance Index: -16.1800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 44.8854
    Cell Significance Index: -18.2400
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 39.6979
    Cell Significance Index: -20.4200
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 19.1701
    Cell Significance Index: -18.3000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 15.3209
    Cell Significance Index: -18.8900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 6.4468
    Cell Significance Index: -17.2700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.9645
    Cell Significance Index: -19.5900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 4.4476
    Cell Significance Index: 439.9700
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 4.1935
    Cell Significance Index: -12.8800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.8155
    Cell Significance Index: 24.7700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.7728
    Cell Significance Index: -3.8800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.2283
    Cell Significance Index: 199.7800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.1054
    Cell Significance Index: 66.3600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.0010
    Cell Significance Index: 45.3700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.8971
    Cell Significance Index: 46.6000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7134
    Cell Significance Index: 20.5600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.6603
    Cell Significance Index: 45.6700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4827
    Cell Significance Index: 435.8600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.4614
    Cell Significance Index: 12.3200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.4426
    Cell Significance Index: 12.3700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.4326
    Cell Significance Index: 27.9100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3884
    Cell Significance Index: 212.1300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3646
    Cell Significance Index: 65.7200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.3602
    Cell Significance Index: 72.2500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3563
    Cell Significance Index: 43.8200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.3478
    Cell Significance Index: 41.0200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.3475
    Cell Significance Index: 16.2000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.3060
    Cell Significance Index: 14.3800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3047
    Cell Significance Index: 60.4700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.2895
    Cell Significance Index: 7.8800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2667
    Cell Significance Index: 50.7500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2594
    Cell Significance Index: 179.4000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2369
    Cell Significance Index: 104.7500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.2352
    Cell Significance Index: 17.5300
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.2236
    Cell Significance Index: 5.9800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2175
    Cell Significance Index: 29.8700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1902
    Cell Significance Index: 68.2300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1766
    Cell Significance Index: 6.2100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.1697
    Cell Significance Index: 8.9100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1493
    Cell Significance Index: 19.1400
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.1422
    Cell Significance Index: 2.1300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1319
    Cell Significance Index: 9.3300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0858
    Cell Significance Index: 2.3000
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.0782
    Cell Significance Index: 1.4500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0751
    Cell Significance Index: 9.7100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0676
    Cell Significance Index: 1.4400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0515
    Cell Significance Index: 1.6500
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.0299
    Cell Significance Index: 0.2700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0012
    Cell Significance Index: -2.2500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0061
    Cell Significance Index: -11.3000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0068
    Cell Significance Index: -4.9900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0092
    Cell Significance Index: -14.1100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0098
    Cell Significance Index: -0.6200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0106
    Cell Significance Index: -8.0200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0136
    Cell Significance Index: -18.4500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0149
    Cell Significance Index: -9.4600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0236
    Cell Significance Index: -17.4700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0270
    Cell Significance Index: -2.7600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0275
    Cell Significance Index: -12.4700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0298
    Cell Significance Index: -16.7800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0359
    Cell Significance Index: -6.1300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0365
    Cell Significance Index: -22.8000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0414
    Cell Significance Index: -6.0200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0568
    Cell Significance Index: -16.3300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0706
    Cell Significance Index: -4.7500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0712
    Cell Significance Index: -5.4600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0973
    Cell Significance Index: -11.3400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1019
    Cell Significance Index: -2.6800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1030
    Cell Significance Index: -3.5800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1054
    Cell Significance Index: -12.0800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1078
    Cell Significance Index: -22.7100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1170
    Cell Significance Index: -3.3400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1225
    Cell Significance Index: -3.1300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1315
    Cell Significance Index: -2.2000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1319
    Cell Significance Index: -2.7600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1412
    Cell Significance Index: -3.0600
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1593
    Cell Significance Index: -1.8100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1599
    Cell Significance Index: -2.7400
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1612
    Cell Significance Index: -3.4500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1707
    Cell Significance Index: -10.4900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1807
    Cell Significance Index: -18.8100
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.1926
    Cell Significance Index: -4.4500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2027
    Cell Significance Index: -16.0500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2037
    Cell Significance Index: -10.6100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2040
    Cell Significance Index: -11.4500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2195
    Cell Significance Index: -9.7100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2514
    Cell Significance Index: -9.5200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2708
    Cell Significance Index: -6.7700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2964
    Cell Significance Index: -18.1700
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.3311
    Cell Significance Index: -3.6000
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.3321
    Cell Significance Index: -2.2500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3611
    Cell Significance Index: -10.3500
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.3691
    Cell Significance Index: -3.1000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4022
    Cell Significance Index: -12.8100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.4071
    Cell Significance Index: -8.6400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4082
    Cell Significance Index: -14.3000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4117
    Cell Significance Index: -13.4800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.4178
    Cell Significance Index: -10.7400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.4277
    Cell Significance Index: -12.5600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** PHKG2 is a member of the phosphorylase kinase family, which is crucial for glycogen breakdown (glycogenolysis) and glycogen catabolic processes. The gene encodes a gamma catalytic subunit, which is essential for the activation of glycogen phosphorylase, the primary enzyme responsible for glycogen breakdown. The PHKG2 protein exhibits specific isoforms, including the liver/testis isoform, which suggests a tissue-specific expression pattern. **Pathways and Functions:** PHKG2 is involved in several key pathways, including: 1. **Glycogen Biosynthetic Process:** PHKG2 regulates the synthesis of glycogen by controlling the activity of glycogen synthase. 2. **Glycogen Breakdown (Glycogenolysis):** PHKG2 activates glycogen phosphorylase, the primary enzyme responsible for glycogen breakdown. 3. **Glycogen Catabolic Process:** PHKG2 regulates the breakdown of glycogen into glucose-1-phosphate, which is then converted to glucose-6-phosphate. 4. **Metabolism of Carbohydrates:** PHKG2 is involved in the regulation of glucose and glycogen metabolism, which is essential for maintaining cellular energy homeostasis. **Clinical Significance:** Dysregulation of PHKG2 has been implicated in various diseases, including: 1. **Diabetes:** Altered expression of PHKG2 has been observed in diabetic patients, suggesting a link between glycogen metabolism and diabetes. 2. **Cardiovascular Disease:** PHKG2 has been shown to play a role in the regulation of cardiac energy metabolism, and its dysregulation may contribute to the development of cardiovascular disease. 3. **Neurological Disorders:** PHKG2 has been implicated in the regulation of glycogen metabolism in the brain, and its dysregulation may contribute to the development of neurological disorders, such as Alzheimer's disease. In conclusion, PHKG2 is a critical gene that plays a pivotal role in glycogen metabolism. Its dysregulation has been implicated in various diseases, highlighting the importance of understanding its molecular mechanisms and clinical significance. Further research is necessary to elucidate the complex relationships between PHKG2 and other genes involved in glycogen metabolism, as well as to explore its potential as a therapeutic target for the treatment of diseases related to glycogen metabolism.

Genular Protein ID: 741191997

Symbol: PHKG2_HUMAN

Name: Phosphorylase b kinase gamma catalytic chain, liver/testis isoform

UniProtKB Accession Codes:

P15735 A8K0C7 B4DEB7 E9PEU3 P11800

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CPTAC 4 CTD 1 ChEBI 2 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugCentral 1 EC 1 EMBL 8 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 13 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 1 PRINTS 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2915644

Title: Messenger ribonucleic acid encoding an apparent isoform of phosphorylase kinase catalytic subunit is abundant in the adult testis.

PubMed ID: 2915644

DOI: 10.1210/mend-3-1-110

PubMed ID: 9384616

Title: Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.

PubMed ID: 9384616

DOI: 10.1093/hmg/7.1.149

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 2948189

Title: Homology probing: identification of cDNA clones encoding members of the protein-serine kinase family.

PubMed ID: 2948189

DOI: 10.1073/pnas.84.2.388

PubMed ID: 9245685

Title: Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2).

PubMed ID: 9245685

DOI: 10.1006/bbrc.1997.7006

PubMed ID: 10487978

Title: Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure.

PubMed ID: 10487978

DOI: 10.2741/brushia

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 8896567

Title: Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.

PubMed ID: 8896567

DOI: 10.1038/ng1196-337

PubMed ID: 12930917

Title: Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene.

PubMed ID: 12930917

DOI: 10.1203/01.pdr.0000088069.09275.10

PubMed ID: 17344846

Title: Patterns of somatic mutation in human cancer genomes.

PubMed ID: 17344846

DOI: 10.1038/nature05610

PubMed ID: 35549678

Title: A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants.

PubMed ID: 35549678

DOI: 10.1186/s12887-021-03055-7

Sequence Information:

  • Length: 406
  • Mass: 46442
  • Checksum: E991CFF2D3D70F60
  • Sequence:
    • MTLDVGPEDE LPDWAAAKEF YQKYDPKDVI GRGVSSVVRR CVHRATGHEF AVKIMEVTAE 
RLSPEQLEEV REATRRETHI LRQVAGHPHI ITLIDSYESS SFMFLVFDLM RKGELFDYLT 
EKVALSEKET RSIMRSLLEA VSFLHANNIV HRDLKPENIL LDDNMQIRLS DFGFSCHLEP 
GEKLRELCGT PGYLAPEILK CSMDETHPGY GKEVDLWACG VILFTLLAGS PPFWHRRQIL 
MLRMIMEGQY QFSSPEWDDR SSTVKDLISR LLQVDPEARL TAEQALQHPF FERCEGSQPW 
NLTPRQRFRV AVWTVLAAGR VALSTHRVRP LTKNALLRDP YALRSVRHLI DNCAFRLYGH 
WVKKGEQQNR AALFQHRPPG PFPIMGPEEE GDSAAITEDE AVLVLG

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.