Details for: PIK3CA

Gene ID: 5290

Symbol: PIK3CA

Ensembl ID: ENSG00000121879

Description: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

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: 322.8804
    Cell Significance Index: -50.2200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 197.4426
    Cell Significance Index: -50.0800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 108.1499
    Cell Significance Index: -51.0600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 98.4106
    Cell Significance Index: -39.9800
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 91.7795
    Cell Significance Index: -47.2100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 42.2732
    Cell Significance Index: -40.3600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 41.2586
    Cell Significance Index: -50.8700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 12.9547
    Cell Significance Index: -51.1200
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 11.7656
    Cell Significance Index: -25.7500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.0626
    Cell Significance Index: 413.7600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.9163
    Cell Significance Index: 107.5300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.8544
    Cell Significance Index: 665.1300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 1.3670
    Cell Significance Index: 26.6800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 1.3293
    Cell Significance Index: 89.3800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.2739
    Cell Significance Index: 207.1900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.2646
    Cell Significance Index: 1141.8000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 1.1961
    Cell Significance Index: 73.5200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.1287
    Cell Significance Index: 223.9900
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 1.1037
    Cell Significance Index: 26.4700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.1037
    Cell Significance Index: 29.5800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.9612
    Cell Significance Index: 112.0200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.7881
    Cell Significance Index: 60.4800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.7650
    Cell Significance Index: 529.0800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6415
    Cell Significance Index: 69.7800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.6348
    Cell Significance Index: 120.8200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.6346
    Cell Significance Index: 28.0700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.5439
    Cell Significance Index: 13.9800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.5435
    Cell Significance Index: 20.5800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.5336
    Cell Significance Index: 7.2800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.4476
    Cell Significance Index: 12.5100
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.4025
    Cell Significance Index: 5.7800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.3989
    Cell Significance Index: 20.7800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.3626
    Cell Significance Index: 21.7700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2786
    Cell Significance Index: 50.2300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.2211
    Cell Significance Index: 6.3100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1972
    Cell Significance Index: 3.3800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1828
    Cell Significance Index: 3.9600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1685
    Cell Significance Index: 20.7200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1330
    Cell Significance Index: 58.8100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1300
    Cell Significance Index: 244.7500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1146
    Cell Significance Index: 11.3400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1111
    Cell Significance Index: 7.0000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1071
    Cell Significance Index: 58.5100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0990
    Cell Significance Index: 152.4600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0938
    Cell Significance Index: 173.0800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0894
    Cell Significance Index: 56.7500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0888
    Cell Significance Index: 12.2000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0793
    Cell Significance Index: 36.0000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0724
    Cell Significance Index: 3.2800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0377
    Cell Significance Index: 2.4400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0308
    Cell Significance Index: 41.8300
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 0.0116
    Cell Significance Index: 0.0700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0348
    Cell Significance Index: -5.0600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0348
    Cell Significance Index: -0.9300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0423
    Cell Significance Index: -31.0100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0584
    Cell Significance Index: -43.2700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0614
    Cell Significance Index: -46.4400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0615
    Cell Significance Index: -2.1600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0878
    Cell Significance Index: -49.5200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0903
    Cell Significance Index: -56.3700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0949
    Cell Significance Index: -2.7400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1097
    Cell Significance Index: -18.7400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1214
    Cell Significance Index: -15.5600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1270
    Cell Significance Index: -2.7800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1502
    Cell Significance Index: -17.7100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1505
    Cell Significance Index: -43.3000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1891
    Cell Significance Index: -19.3200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.2070
    Cell Significance Index: -9.6500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2362
    Cell Significance Index: -30.5200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2640
    Cell Significance Index: -55.6000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2761
    Cell Significance Index: -12.9800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.3009
    Cell Significance Index: -15.6300
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3267
    Cell Significance Index: -9.3700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.3472
    Cell Significance Index: -9.4500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3489
    Cell Significance Index: -39.9700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3584
    Cell Significance Index: -37.3200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.4043
    Cell Significance Index: -4.8200
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.4398
    Cell Significance Index: -6.3300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.4453
    Cell Significance Index: -33.1900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.5243
    Cell Significance Index: -37.0800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.5254
    Cell Significance Index: -11.1900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.5309
    Cell Significance Index: -42.0500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.5661
    Cell Significance Index: -18.1300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.5989
    Cell Significance Index: -14.9700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.6200
    Cell Significance Index: -32.5500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6407
    Cell Significance Index: -39.2800
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.7247
    Cell Significance Index: -15.3800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.7432
    Cell Significance Index: -23.6700
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.7468
    Cell Significance Index: -11.0300
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: -0.7568
    Cell Significance Index: -9.5300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.7883
    Cell Significance Index: -25.8100
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.7904
    Cell Significance Index: -6.4500
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.7930
    Cell Significance Index: -15.6800
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.8443
    Cell Significance Index: -16.9500
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.8517
    Cell Significance Index: -10.6200
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.8730
    Cell Significance Index: -18.6600
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.9741
    Cell Significance Index: -6.6000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -1.0413
    Cell Significance Index: -36.4800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -1.0579
    Cell Significance Index: -36.7600
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -1.0629
    Cell Significance Index: -13.4200

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:** The PIK3CA gene is a member of the PI3K family of enzymes, which are responsible for generating phosphatidylinositol 3,4,5-trisphosphate (PIP3) from phosphatidylinositol 4,5-bisphosphate (PIP2). The PIK3CA gene encodes the catalytic subunit of the PI3K enzyme, which is responsible for the phosphatidylinositol 3-kinase activity. The PIK3CA gene is highly conserved across species and is expressed in a wide range of tissues, including immune cells and cancer cells. **Pathways and Functions:** The PIK3CA gene is involved in several signaling pathways, including: 1. **Cell growth and differentiation:** The PIK3CA gene plays a critical role in regulating cell growth and differentiation by activating downstream targets such as AKT, mTOR, and ERK. 2. **Cell survival:** The PIK3CA gene is involved in regulating cell survival by activating downstream targets such as BCL-2 and anti-apoptotic proteins. 3. **Immune cell signaling:** The PIK3CA gene is expressed in immune cells and plays a critical role in regulating immune cell signaling, including the activation of T cells and B cells. 4. **Cancer development:** Mutations in the PIK3CA gene have been implicated in several types of cancer, including breast, brain, and colon cancer. **Clinical Significance:** The PIK3CA gene has been implicated in several types of cancer, including: 1. **Breast cancer:** Mutations in the PIK3CA gene have been identified in up to 30% of breast cancers. 2. **Brain cancer:** Mutations in the PIK3CA gene have been identified in up to 50% of glioblastoma cases. 3. **Colon cancer:** Mutations in the PIK3CA gene have been identified in up to 20% of colon cancers. The PIK3CA gene is also involved in several immune-related disorders, including: 1. **Autoimmune diseases:** The PIK3CA gene is involved in regulating immune cell signaling and has been implicated in several autoimmune diseases, including rheumatoid arthritis and lupus. 2. **Immunodeficiency disorders:** The PIK3CA gene is involved in regulating immune cell development and function and has been implicated in several immunodeficiency disorders, including X-linked agammaglobulinemia. In conclusion, the PIK3CA gene is a critical regulator of immune cell signaling and cancer development. Mutations in the PIK3CA gene have been implicated in several types of cancer and immune-related disorders, highlighting the importance of this gene in human health and disease.

Genular Protein ID: 743388481

Symbol: PK3CA_HUMAN

Name: Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 7713498

Title: Molecular cloning, cDNA sequence, and chromosomal localization of the human phosphatidylinositol 3-kinase p110 alpha (PIK3CA) gene.

PubMed ID: 7713498

DOI: 10.1006/geno.1994.1655

PubMed ID: 9043658

Title: Cloning and mutagenesis of the p110 alpha subunit of human phosphoinositide 3'-hydroxykinase.

PubMed ID: 9043658

DOI: 10.1016/s0968-0896(96)00196-4

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: 10490823

Title: Identification of a chromosome 3p14.3-21.1 gene, APPL, encoding an adaptor molecule that interacts with the oncoprotein-serine/threonine kinase AKT2.

PubMed ID: 10490823

DOI: 10.1038/sj.onc.1203080

PubMed ID: 15135396

Title: Cloning, expression, purification, and characterization of the human Class Ia phosphoinositide 3-kinase isoforms.

PubMed ID: 15135396

DOI: 10.1016/j.pep.2003.12.010

PubMed ID: 23936502

Title: Oncogenic mutations of p110alpha isoform of PI 3-kinase upregulate its protein kinase activity.

PubMed ID: 23936502

DOI: 10.1371/journal.pone.0071337

PubMed ID: 28676499

Title: Kinetic and structural analyses reveal residues in phosphoinositide 3-kinase alpha that are critical for catalysis and substrate recognition.

PubMed ID: 28676499

DOI: 10.1074/jbc.m116.772426

PubMed ID: 21708979

Title: Phosphoinositide 3-kinase signaling pathway mediated by p110{alpha} regulates invadopodia formation.

PubMed ID: 21708979

DOI: 10.1083/jcb.201009126

PubMed ID: 23100325

Title: Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly.

PubMed ID: 23100325

DOI: 10.1093/hmg/dds440

PubMed ID: 23676467

Title: FAM83B-mediated activation of PI3K/AKT and MAPK signaling cooperates to promote epithelial cell transformation and resistance to targeted therapies.

PubMed ID: 23676467

DOI: 10.18632/oncotarget.1027

PubMed ID: 18418043

Title: Insights into the oncogenic effects of PIK3CA mutations from the structure of p110alpha/p85alpha.

PubMed ID: 18418043

DOI: 10.4161/cc.7.9.5817

PubMed ID: 18794883

Title: Class I PI3K in oncogenic cellular transformation.

PubMed ID: 18794883

DOI: 10.1038/onc.2008.244

PubMed ID: 19200708

Title: Should individual PI3 kinase isoforms be targeted in cancer?

PubMed ID: 19200708

DOI: 10.1016/j.ceb.2008.12.007

PubMed ID: 29446767

Title: CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.

PubMed ID: 29446767

DOI: 10.1038/gim.2017.200

PubMed ID: 34496175

Title: Somatic PIK3CA mutations in sporadic cerebral cavernous malformations.

PubMed ID: 34496175

DOI: 10.1056/nejmoa2100440

PubMed ID: 37712948

Title: Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition.

PubMed ID: 37712948

DOI: 10.1084/jem.20230926

PubMed ID: 18079394

Title: The structure of a human p110alpha/p85alpha complex elucidates the effects of oncogenic PI3Kalpha mutations.

PubMed ID: 18079394

DOI: 10.1126/science.1150799

PubMed ID: 19805105

Title: A frequent kinase domain mutation that changes the interaction between PI3Kalpha and the membrane.

PubMed ID: 19805105

DOI: 10.1073/pnas.0908444106

PubMed ID: 15289301

Title: Mutations of PIK3CA in anaplastic oligodendrogliomas, high-grade astrocytomas, and medulloblastomas.

PubMed ID: 15289301

DOI: 10.1158/0008-5472.can-04-1170

PubMed ID: 15520168

Title: Mutation of the PIK3CA gene in ovarian and breast cancer.

PubMed ID: 15520168

DOI: 10.1158/0008-5472.can-04-2933

PubMed ID: 15016963

Title: High frequency of mutations of the PIK3CA gene in human cancers.

PubMed ID: 15016963

DOI: 10.1126/science.1096502

PubMed ID: 15924253

Title: PIK3CA mutations in glioblastoma multiforme.

PubMed ID: 15924253

DOI: 10.1007/s00401-005-1000-1

PubMed ID: 15784156

Title: Mutations of PIK3CA in gastric adenocarcinoma.

PubMed ID: 15784156

DOI: 10.1186/1471-2407-5-29

PubMed ID: 15930273

Title: Functional analysis of PIK3CA gene mutations in human colorectal cancer.

PubMed ID: 15930273

DOI: 10.1158/0008-5472.can-04-4114

PubMed ID: 16322209

Title: High frequency of coexistent mutations of PIK3CA and PTEN genes in endometrial carcinoma.

PubMed ID: 16322209

DOI: 10.1158/0008-5472.can-05-2620

PubMed ID: 15994075

Title: The prevalence of PIK3CA mutations in gastric and colon cancer.

PubMed ID: 15994075

DOI: 10.1016/j.ejca.2005.04.022

PubMed ID: 15712344

Title: PIK3CA mutations in advanced ovarian carcinomas.

PubMed ID: 15712344

DOI: 10.1002/humu.9316

PubMed ID: 15608678

Title: PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas.

PubMed ID: 15608678

DOI: 10.1038/sj.onc.1208304

PubMed ID: 16533766

Title: PIK3CA mutations in head and neck squamous cell carcinoma.

PubMed ID: 16533766

DOI: 10.1158/1078-0432.ccr-05-2173

PubMed ID: 16114017

Title: PIK3CA mutations in nasopharyngeal carcinoma.

PubMed ID: 16114017

DOI: 10.1002/ijc.21444

PubMed ID: 16353168

Title: PIK3CA mutation and histological type in breast carcinoma: high frequency of mutations in lobular carcinoma.

PubMed ID: 16353168

DOI: 10.1002/path.1908

PubMed ID: 16432179

Title: Cancer-specific mutations in PIK3CA are oncogenic in vivo.

PubMed ID: 16432179

DOI: 10.1073/pnas.0510857103

PubMed ID: 17673550

Title: Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern.

PubMed ID: 17673550

DOI: 10.1073/pnas.0705218104

PubMed ID: 22658544

Title: Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome.

PubMed ID: 22658544

DOI: 10.1016/j.ajhg.2012.05.006

PubMed ID: 22729224

Title: De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

PubMed ID: 22729224

DOI: 10.1038/ng.2331

PubMed ID: 23246288

Title: Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.

PubMed ID: 23246288

DOI: 10.1016/j.ajhg.2012.10.021

PubMed ID: 26593112

Title: Identification and characterisation of a novel constitutional PIK3CA mutation in a child lacking the typical segmental overgrowth of 'PIK3CA-related overgrowth spectrum' (PROS).

PubMed ID: 26593112

DOI: 10.1002/humu.22933

Sequence Information:

  • Length: 1068
  • Mass: 124284
  • Checksum: 041487231A9A1207
  • Sequence:
  • MPPRPSSGEL WGIHLMPPRI LVECLLPNGM IVTLECLREA TLITIKHELF KEARKYPLHQ 
    LLQDESSYIF VSVTQEAERE EFFDETRRLC DLRLFQPFLK VIEPVGNREE KILNREIGFA 
    IGMPVCEFDM VKDPEVQDFR RNILNVCKEA VDLRDLNSPH SRAMYVYPPN VESSPELPKH 
    IYNKLDKGQI IVVIWVIVSP NNDKQKYTLK INHDCVPEQV IAEAIRKKTR SMLLSSEQLK 
    LCVLEYQGKY ILKVCGCDEY FLEKYPLSQY KYIRSCIMLG RMPNLMLMAK ESLYSQLPMD 
    CFTMPSYSRR ISTATPYMNG ETSTKSLWVI NSALRIKILC ATYVNVNIRD IDKIYVRTGI 
    YHGGEPLCDN VNTQRVPCSN PRWNEWLNYD IYIPDLPRAA RLCLSICSVK GRKGAKEEHC 
    PLAWGNINLF DYTDTLVSGK MALNLWPVPH GLEDLLNPIG VTGSNPNKET PCLELEFDWF 
    SSVVKFPDMS VIEEHANWSV SREAGFSYSH AGLSNRLARD NELRENDKEQ LKAISTRDPL 
    SEITEQEKDF LWSHRHYCVT IPEILPKLLL SVKWNSRDEV AQMYCLVKDW PPIKPEQAME 
    LLDCNYPDPM VRGFAVRCLE KYLTDDKLSQ YLIQLVQVLK YEQYLDNLLV RFLLKKALTN 
    QRIGHFFFWH LKSEMHNKTV SQRFGLLLES YCRACGMYLK HLNRQVEAME KLINLTDILK 
    QEKKDETQKV QMKFLVEQMR RPDFMDALQG FLSPLNPAHQ LGNLRLEECR IMSSAKRPLW 
    LNWENPDIMS ELLFQNNEII FKNGDDLRQD MLTLQIIRIM ENIWQNQGLD LRMLPYGCLS 
    IGDCVGLIEV VRNSHTIMQI QCKGGLKGAL QFNSHTLHQW LKDKNKGEIY DAAIDLFTRS 
    CAGYCVATFI LGIGDRHNSN IMVKDDGQLF HIDFGHFLDH KKKKFGYKRE RVPFVLTQDF 
    LIVISKGAQE CTKTREFERF QEMCYKAYLA IRQHANLFIN LFSMMLGSGM PELQSFDDIA 
    YIRKTLALDK TEQEALEYFM KQMNDAHHGG WTTKMDWIFH TIKQHALN

Genular Protein ID: 3533410265

Symbol: Q4LE51_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 1069
  • Mass: 124385
  • Checksum: 68624049DF9E4352
  • Sequence:
  • TMPPRPSSGE LWGIHLMPPR ILVECLLPNG MIVTLECLRE ATLITIKHEL FKEARKYPLH 
    QLLQDESSYI FVSVTQEAER EEFFDETRRL CDLRLFQPFL KVIEPVGNRE EKILNREIGF 
    AIGMPVCEFD MVKDPEVQDF RRNILNVCKE AVDLRDLNSP HSRAMYVYPP NVESSPELPK 
    HIYNKLDKGQ IIVVIWVIVS PNNDKQKYTL KINHDCVPEQ VIAEAIRKKT RSMLLSSEQL 
    KLCVLEYQGK YILKVCGCDE YFLEKYPLSQ YKYIRSCIML GRMPNLMLMA KESLYSQLPM 
    DCFTMPSYSR RISTATPYMN GETSTKSLWV INSALRIKIL CATYVNVNIR DIDKIYVRTG 
    IYHGGEPLCD NVNTQRVPCS NPRWNEWLNY DIYIPDLPRA ARLCLSICSV KGRKGAKEEH 
    CPLAWGNINL FDYTDTLVSG KMALNLWPVP HGLEDLLNPI GVTGSNPNKE TPCLELEFDW 
    FSSVVKFPDM SVIEEHANWS VSREAGFSYS HAGLSNRLAR DNELRENDKE QLKAISTRDP 
    LSEITEQEKD FLWSHRHYCV TIPEILPKLL LSVKWNSRDE VAQMYCLVKD WPPIKPEQAM 
    ELLDCNYPDP MVRGFAVRCL EKYLTDDKLS QYLIQLVQVL KYEQYLDNLL VRFLLKKALT 
    NQRIGHFFFW HLKSEMHNKT VSQRFGLLLE SYCRACGMYL KHLNRQVEAM EKLINLTDIL 
    KQEKKDETQK VQMKFLVEQM RRPDFMDALQ GFLSPLNPAH QLGNLRLEEC RIMSSAKRPL 
    WLNWENPDIM SELLFQNNEI IFKNGDDLRQ DMLTLQIIRI MENIWQNQGL DLRMLPYGCL 
    SIGDCVGLIE VVRNSHTIMQ IQCKGGLKGA LQFNSHTLHQ WLKDKNKGEI YDAAIDLFTR 
    SCAGYCVATF ILGIGDRHNS NIMVKDDGQL FHIDFGHFLD HKKKKFGYKR ERVPFVLTQD 
    FLIVISKGAQ ECTKTREFER FQEMCYKAYL AIRQHANLFI NLFSMMLGSG MPELQSFDDI 
    AYIRKTLALD KTEQEALEYF MKQMNDAHHG GWTTKMDWIF HTIKQHALN

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.