Details for: PHKA2

Gene ID: 5256

Symbol: PHKA2

Ensembl ID: ENSG00000044446

Description: phosphorylase kinase regulatory subunit alpha 2

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.55
    Marker Score: 2710
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.45
    Marker Score: 7810
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.39
    Marker Score: 8963
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.37
    Marker Score: 5906
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.19
    Marker Score: 26512
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.16
    Marker Score: 10935
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.14
    Marker Score: 1760
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.09
    Marker Score: 40177
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.07
    Marker Score: 3499
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.05
    Marker Score: 15714
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.04
    Marker Score: 7941
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.03
    Marker Score: 9801
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.01
    Marker Score: 3922
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71766
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47990
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.99
    Marker Score: 15443
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30402
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.96
    Marker Score: 3985
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.96
    Marker Score: 36447
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2407
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 486
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.94
    Marker Score: 18736
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.94
    Marker Score: 57704
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.94
    Marker Score: 442
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.92
    Marker Score: 3738
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.91
    Marker Score: 19490
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2722
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.9
    Marker Score: 1017
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.89
    Marker Score: 7626
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.89
    Marker Score: 1275
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.88
    Marker Score: 1435
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.88
    Marker Score: 602
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.88
    Marker Score: 5009
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5295
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.86
    Marker Score: 3067
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 310
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.86
    Marker Score: 742
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.77
    Marker Score: 1822
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.77
    Marker Score: 13638
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.76
    Marker Score: 702
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.76
    Marker Score: 7849
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.75
    Marker Score: 1532
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.75
    Marker Score: 302
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.74
    Marker Score: 568.5
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.74
    Marker Score: 817
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.74
    Marker Score: 295
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 378
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.73
    Marker Score: 782
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.71
    Marker Score: 2978
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.71
    Marker Score: 265
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.68
    Marker Score: 621
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.68
    Marker Score: 473.5
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 171
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.66
    Marker Score: 384
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.64
    Marker Score: 267
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.63
    Marker Score: 185
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.62
    Marker Score: 347
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.62
    Marker Score: 2598
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.62
    Marker Score: 507
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.61
    Marker Score: 197
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 0.61
    Marker Score: 223
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.61
    Marker Score: 654
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.6
    Marker Score: 628
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.6
    Marker Score: 290
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.59
    Marker Score: 1142
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.59
    Marker Score: 509
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.57
    Marker Score: 157
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.57
    Marker Score: 163
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.56
    Marker Score: 431
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.56
    Marker Score: 445
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.55
    Marker Score: 523
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.55
    Marker Score: 485
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.54
    Marker Score: 3212.5
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.54
    Marker Score: 343
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 430
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.54
    Marker Score: 203
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.54
    Marker Score: 1180
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.53
    Marker Score: 2464
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.53
    Marker Score: 1113
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.52
    Marker Score: 633
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.51
    Marker Score: 178
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.5
    Marker Score: 2075
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.49
    Marker Score: 257
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.49
    Marker Score: 1916
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.49
    Marker Score: 486
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.49
    Marker Score: 241
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.49
    Marker Score: 292
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.48
    Marker Score: 342
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.48
    Marker Score: 321
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.48
    Marker Score: 246
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.47
    Marker Score: 125
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.47
    Marker Score: 124
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 278
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.47
    Marker Score: 261
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.46
    Marker Score: 306
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.46
    Marker Score: 597
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.46
    Marker Score: 157
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.45
    Marker Score: 141
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.45
    Marker Score: 262
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.44
    Marker Score: 159

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Other Information

**Key Characteristics:** PHKA2 is a member of the phosphorylase kinase regulatory subunit family, which plays a pivotal role in the regulation of glycogen breakdown. The PHKA2 gene is characterized by its high expression levels in cells involved in energy metabolism, such as hepatocytes and cardiac myocytes. The gene is also highly expressed in neurons, particularly in glutamatergic cortical interneurons, suggesting a potential role in regulating neuronal energy metabolism. **Pathways and Functions:** PHKA2 is involved in several key pathways related to glycogen metabolism, including: 1. **Glycogen breakdown (glycogenolysis)**: PHKA2 regulates the activity of phosphorylase kinase, which catalyzes the breakdown of glycogen into glucose-1-phosphate. 2. **Glycogen metabolic process**: PHKA2 is involved in the regulation of glycogen synthesis and breakdown, ensuring proper energy homeostasis in cells. 3. **Carbohydrate metabolic process**: PHKA2 plays a crucial role in the regulation of glucose metabolism, including glycolysis, gluconeogenesis, and glycogen synthesis. 4. **Metabolism of carbohydrates**: PHKA2 is involved in the regulation of carbohydrate metabolism, including the breakdown of glycogen, glucose-6-phosphate, and fructose-1-phosphate. **Clinical Significance:** Dysregulation of PHKA2 has been implicated in various diseases, including: 1. **Diabetes**: PHKA2 mutations have been associated with impaired glycogen breakdown, leading to hyperglycemia and diabetes. 2. **Hypothyroidism**: PHKA2 is involved in the regulation of thyroid hormone metabolism, and its dysregulation can lead to hypothyroidism. 3. **Neurodegenerative diseases**: PHKA2 has been implicated in the regulation of neuronal energy metabolism, and its dysregulation may contribute to neurodegenerative diseases, such as Alzheimer's and Parkinson's. 4. **Cardiac diseases**: PHKA2 is involved in the regulation of cardiac energy metabolism, and its dysregulation may contribute to cardiac dysfunction and disease. In conclusion, PHKA2 plays a crucial role in regulating glycogen metabolism, energy homeostasis, and carbohydrate metabolism. Its dysregulation has been implicated in various diseases, highlighting the importance of PHKA2 in maintaining proper cellular function and overall health. Further research is needed to fully elucidate the mechanisms of PHKA2 and its clinical significance in human disease.

Genular Protein ID: 2073681509

Symbol: KPB2_HUMAN

Name: Phosphorylase b kinase regulatory subunit alpha, liver isoform

UniProtKB Accession Codes:

P46019 A8K1T1 Q6LAJ5 Q7Z6W0 Q96CR3 Q9UDA1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 42 EPD 1 Ensembl 1 GO 9 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 SAM 1 SIGNOR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7847371

Title: X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.

PubMed ID: 7847371

PubMed ID: 7549948

Title: Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency.

PubMed ID: 7549948

PubMed ID: 10330341

Title: Complete genomic structure and mutational spectrum of PHKA2 in patients with X-linked liver glycogenosis type I and II.

PubMed ID: 10330341

DOI: 10.1086/302399

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

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: 9600238

Title: Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.

PubMed ID: 9600238

DOI: 10.1007/s004390050715

PubMed ID: 8518797

Title: X-linked liver glycogenosis: localization and isolation of a candidate gene.

PubMed ID: 8518797

DOI: 10.1093/hmg/2.5.583

PubMed ID: 8226841

Title: The multiphosphorylation domain of the phosphorylase kinase alpha M and alpha L subunits is a hotspot of differential mRNA processing and of molecular evolution.

PubMed ID: 8226841

DOI: 10.1016/s0021-9258(19)49449-0

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19369195

Title: Large-scale proteomics analysis of the human kinome.

PubMed ID: 19369195

DOI: 10.1074/mcp.m800588-mcp200

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

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: 8733133

Title: X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase.

PubMed ID: 8733133

DOI: 10.1093/hmg/5.5.649

PubMed ID: 8733134

Title: Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).

PubMed ID: 8733134

DOI: 10.1093/hmg/5.5.653

PubMed ID: 17689125

Title: Glycogen storage disease type IX: High variability in clinical phenotype.

PubMed ID: 17689125

DOI: 10.1016/j.ymgme.2007.06.007

Sequence Information:

  • Length: 1235
  • Mass: 138408
  • Checksum: 6CA10CFFA86A582A
  • Sequence:
    • MRSRSNSGVR LDGYARLVQQ TILCYQNPVT GLLSASHEQK DAWVRDNIYS ILAVWGLGMA 
YRKNADRDED KAKAYELEQN VVKLMRGLLQ CMMRQVAKVE KFKHTQSTKD SLHAKYNTAT 
CGTVVGDDQW GHLQVDATSL FLLFLAQMTA SGLRIIFTLD EVAFIQNLVF YIEAAYKVAD 
YGMWERGDKT NQGIPELNAS SVGMAKAALE AIDELDLFGA HGGRKSVIHV LPDEVEHCQS 
ILFSMLPRAS TSKEIDAGLL SIISFPAFAV EDVNLVNVTK NEIISKLQGR YGCCRFLRDG 
YKTPREDPNR LHYDPAELKL FENIECEWPV FWTYFIIDGV FSGDAVQVQE YREALEGILI 
RGKNGIRLVP ELYAVPPNKV DEEYKNPHTV DRVPMGKVPH LWGQSLYILS SLLAEGFLAA 
GEIDPLNRRF STSVKPDVVV QVTVLAENNH IKDLLRKHGV NVQSIADIHP IQVQPGRILS 
HIYAKLGRNK NMNLSGRPYR HIGVLGTSKL YVIRNQIFTF TPQFTDQHHF YLALDNEMIV 
EMLRIELAYL CTCWRMTGRP TLTFPISRTM LTNDGSDIHS AVLSTIRKLE DGYFGGARVK 
LGNLSEFLTT SFYTYLTFLD PDCDEKLFDN ASEGTFSPDS DSDLVGYLED TCNQESQDEL 
DHYINHLLQS TSLRSYLPPL CKNTEDRHVF SAIHSTRDIL SVMAKAKGLE VPFVPMTLPT 
KVLSAHRKSL NLVDSPQPLL EKVPESDFQW PRDDHGDVDC EKLVEQLKDC SNLQDQADIL 
YILYVIKGPS WDTNLSGQHG VTVQNLLGEL YGKAGLNQEW GLIRYISGLL RKKVEVLAEA 
CTDLLSHQKQ LTVGLPPEPR EKIISAPLPP EELTKLIYEA SGQDISIAVL TQEIVVYLAM 
YVRAQPSLFV EMLRLRIGLI IQVMATELAR SLNCSGEEAS ESLMNLSPFD MKNLLHHILS 
GKEFGVERSV RPIHSSTSSP TISIHEVGHT GVTKTERSGI NRLRSEMKQM TRRFSADEQF 
FSVGQAASSS AHSSKSARSS TPSSPTGTSS SDSGGHHIGW GERQGQWLRR RRLDGAINRV 
PVGFYQRVWK ILQKCHGLSI DGYVLPSSTT REMTPHEIKF AVHVESVLNR VPQPEYRQLL 
VEAIMVLTLL SDTEMTSIGG IIHVDQIVQM ASQLFLQDQV SIGAMDTLEK DQATGICHFF 
YDSAPSGAYG TMTYLTRAVA SYLQELLPNS GCQMQ

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. For the full schema, download it here.