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. 2020 Jul 22;11:743. doi: 10.3389/fgene.2020.00743

TABLE 2.

Genes and associated protein names and functions.

Gene name Protein abbreviation Protein name Role/function References
HIF1A HIF-1α Hypoxia inducible factor 1α Transcription factor Wang et al., 1995
EPAS1 HIF-2α Hypoxia inducible factor 2α; Endothelial PAS Domain Protein 1 Transcription factor Liu et al., 2020
HIF3A HIF-3α Hypoxia inducible factor 3α Transcription factor Zhang P. et al., 2014
ARNT HIF-1β / ARNT Aryl Hydrocarbon Receptor Nuclear Translocator Transcription factor Hankinson, 2002
EGLN2 PHD1 Hypoxia-inducible factor prolyl hydroxylase 1 Prolyl hydroxylase Schofield and Ratcliffe, 2004
EGLN1 PHD2 Hypoxia-inducible factor prolyl hydroxylase 2 Prolyl hydroxylase Schofield and Ratcliffe, 2004
EGLN3 PHD3 Hypoxia-inducible factor prolyl hydroxylase 3 Prolyl hydroxylase Schofield and Ratcliffe, 2004
VHL VHL Von Hippel–Lindau tumor suppressor Tumor suppressor Lerman, 2002
EPO EPO Erythropoietin Hormone Lacombe and Mayeux, 2008
VEGF VEGF Vascular endothelial growth factor Signaling protein; angiogenic factor Li, 2001
ALDOA ALDOA Aldolase, Fructose-Bisphosphate A Plays a key role in glycolysis and gluconeogenesis. Catalyzes the reversible conversion of fructose-1, 6-bisphosphate to glyceraldehyde 3-phosphate (G3P) and dihydroxyacetone phosphate (DHAP) Semenza et al., 1996
ENO1 ENO1 Enolase 1 Glycolytic enzyme. Catalyzes the conversion of 2-phosphoglycerate to phosphoenolpyruvate Semenza et al., 1996; Park et al., 2016
LDHA LDHA; LDH5 Lactate Dehydrogenase A Catalyzes the inter-conversion of pyruvate and L-lactate with concomitant inter-conversion of NADH and NAD+ Semenza et al., 1996
REST REST RE1-Silencing Transcription factor Transcriptional repressor Liu et al., 2015
PPARA PPARα; NR1C1 Peroxisome proliferator-activated receptor alpha Transcription factor. A major regulator of lipid metabolism in the liver Popeijus, 2018
HBB HBB Hemoglobin subunit beta Protein molecule in red blood cells that carries oxygen Antonini and Brunori, 1970
HBG2 HBG2 Hemoglobin subunit gamma Protein molecule in red blood cells that carries oxygen (Normally expressed in the fetus) Adachi et al., 1990
HFE HFE Human homeostatic iron regulator protein Regulates circulating iron uptake Enns, 2006
PKLR PKLR Pyruvate Kinase L/R Catalyzes the production of pyruvate and ATP from phosphoenolpyruvate Jarrar et al., 2020
CYP17A1 CYP17A1 Cytochrome P450 Family 17 Subfamily A Member 1 Steroid 17α-monooxygenase Tan et al., 2017; Jarrar et al., 2020
HMOX2 HMOX2 Heme oxygenase 2 Cleaves heme to form biliverdin, which is converted to bilirubin by biliverdin reductase, and carbon monoxide Yang et al., 2016b
HLa-DQB1 HLA-DQB1 Major histocompatibility complex, class II, DQ beta 1 Part of a cell surface receptor that plays a central role in the immune system through presenting peptides derived from extracellular proteins Jones et al., 2006
HLA-DPB1 HLA-DPB1 Major Histocompatibility Complex, Class II, DP Beta 1 Part of a cell surface receptor that plays a central role in the immune system through presenting peptides derived from extracellular proteins Jones et al., 2006
ANKH ANKH Progressive ankylosis protein homolog Transmembrane protein that controls pyrophosphate levels Zaka and Williams, 2006
ZNF532 ZNF532 Zinc Finger Protein 532 May function as a transcription factor Alekseyenko et al., 2017
COL4A4 COL4A4 alpha4 (IV) chain of type IV collagen Part of type IV collagen Mariyama et al., 1994
EDNRA EDNRA Endothelin Receptor Type A Human G protein-coupled receptor Maguire and Davenport, 2015
PRKAA1 PRKAA1 Protein Kinase AMP-Activated Catalytic Subunit Alpha 1 Kinase Seza et al., 2019
VEGFB VEGFB Vascular Endothelial Growth Factor B Signaling protein; angiogenic factor Li, 2001
ELTD1 ELTD1 EGF, latrophilin and seven transmembrane domain-containing protein 1 Involved in angiogenesis Nechiporuk et al., 2001
BRINP3 BRINP3 BMP/Retinoic Acid Inducible Neural Specific 3 Inhibits neuronal cell proliferation by negative regulation of the cell cycle transition Crawford et al., 2017
NOS2 NOS2 Nitric oxide synthase 2 Produces nitric oxide (NO) Bigham et al., 2009
TBX5 TBX5 T-Box Transcription Factor 5 Transcription factor Krishnan et al., 2008
SENP1 SENP1 SUMO Specific Peptidase 1 Catalyzes maturation of SUMO protein (small ubiquitin-related modifier) Cheng et al., 2007; Krishnan et al., 2008
ANP32D ANP32D Acidic nuclear phosphoprotein 32 family member D Tumor suppressor Zhou et al., 2013
FAM213A PRXL2A; PAMM; FAM213A Peroxiredoxin-like 2 activated in M-CSF stimulated monocytes (PAMM); REDOX-regulatory protein FAM213A Involved in redox regulation of the cell Valverde et al., 2015
SFTPD SFTPD Surfactant Protein D Innate immune system collectin Ito et al., 2011
GPR126 GPR126; Adgrg6 Adhesion G protein–coupled receptor G6 G protein-coupled receptor Cui et al., 2014
THRB THRB Thyroid Hormone Receptor Beta Nuclear hormone receptor that can act as a repressor or activator of transcription Otto and Fandrey, 2008
EDNRB EDNRB Endothelin receptor type B G protein-coupled receptor Stobdan et al., 2018
BHLHE41 BHLHE41 Basic Helix-Loop-Helix Family Member E41; SHARP1; DEC2 Transcriptional repressor Azmi et al., 2003
VAV3 VAV3 Vav guanine nucleotide exchange factor 3 Guanine nucleotide exchange factor Ulc et al., 2017
RORA RORA; RORα; NR1F1 RAR-related orphan receptor A; RAR-related orphan receptor alpha; nuclear receptor subfamily 1, group F, member 1 Exchange factor for GTP-binding proteins RhoA, RhoG and, to a lesser extent, Rac1; involved in angiogenesis Li H. et al., 2018
CIC CIC Capicua transcriptional repressor Transcriptional repressor Udpa et al., 2014
LIPE LIPE Lipase E, hormone-sensitive type Hydrolyzes stored triglycerides to free fatty acids; converts cholesteryl esters to free cholesterol for steroid hormone production Briançon-Marjollet et al., 2016
PAFAH1B3 PAFAH1B3 Platelet-activating factor acetylhydrolase 1B catalytic subunit 3 Inactivates paf by removing the acetyl group at the sn-2 position Tjoelker and Stafforini, 2000
SIRT7 SIRT7 Sirtuin 7 NAD-dependent deacetylase Hubbi et al., 2013
RYR2 RYR2 Ryanodine receptor 2 Calcium channel that mediates the release of Ca2+ from the sarcoplasmic reticulum into the cytoplasm Liao et al., 2011
ANGPT1 ANGPT1 Angiopoietin 1 Signaling protein involved in angiogenesis Liu et al., 2008
ANGPTL4 Angptl4 Angiopoietin-like 4 Serum protein that is involved with modulating triacylglycerol homeostasis Zhu et al., 2012
ADAM17 ADAM17; TACE ADAM Metallopeptidase Domain 17; tumor necrosis factor-α-converting enzyme Cleaves the membrane-bound precursor of TNF-α to its mature soluble form Chen et al., 2017
ARG2 ARG2 Arginase 2 Catalyzes the hydrolysis of arginine to ornithine and urea Jiang et al., 2015
FIGF FIGF; VEGF-D C-fos-induced growth factor; vascular endothelial growth factor D Growth factor active in angiogenesis Morfoisse et al., 2015
PGF PGF Placental Growth Factor Growth factor active in angiogenesis Tudisco et al., 2017
TMPRSS6 TMPRSS6 Transmembrane Serine Protease 6; Matriptase-2 Serine protease which hydrolyzes a range of proteins including type I collagen, fibronectin, and fibrinogen Maurer et al., 2012
ADORA2A ADORA2A Adenosine A2a Receptor G protein-coupled receptor Liu and Xia, 2015
CCL2 CCL2 C-C Motif Chemokine Ligand 2 Cytokine Baay-Guzman et al., 2012
ENG ENG Endoglin Role in the development of the cardiovascular system and in vascular remodeling Tian et al., 2010
PIK3C2A PIK3C2A Phosphatidylinositol-4-Phosphate 3-Kinase Catalytic Subunit Type 2 Alpha Generates phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 3, 4-bisphosphate [PtdIns(3, 4)P2] Alam et al., 2009
ATP12A ATP12A ATPase H+/K+ transporting non-gastric alpha2 subunit Catalytic subunit of the ouabain-sensitive H+/K+ -ATPase that catalyzes the hydrolysis of ATP coupled with the exchange of H+ and K+ ions across the plasma membrane Ge et al., 2013
NOS3 NOS3 Nitric Oxide Synthase 3 Produces nitric oxide (NO) Ge et al., 2013
ANGPTL3 ANGPTL3 Angiopoietin-like protein 3 Secretory protein that regulates plasma lipid levels Carbone et al., 2018
PRCP PRCP Lysosomal prolylcarboxypeptidase Cleaves C-terminal amino acids linked to proline in peptides Hagedorn, 2011
SEC24B SEC24B SEC24 Homolog B, COPII Coat Complex Component; Protein transport protein Sec24B Part of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER) Verma et al., 2018
EPHA1 EPHA1 Erythropoietin-Producing Hepatoma Receptor A1; EPH Tyrosine Kinase 1 Receptor tyrosine kinase Gale and Yancopoulos, 1999
MCAM MCAM; MUC18; CD146 Melanoma Cell Adhesion Molecule Cell adhesion Shih and Kurman, 1996
KAT6A KAT6A Lysine Acetyltransferase 6A Histone acetyltransferase Shukla et al., 2018
MYH9 MYH9 Myosin Heavy Chain 9 Appears to play a role in cytokinesis, cell shape, and cytoskeletal reorganization Wang et al., 2019
CYSLTR2 CYSLTR2 Cysteinyl Leukotriene Receptor 2 G protein-coupled receptor Shao et al., 2015
MYLK MYLK Myosin light chain kinase Calcium/calmodulin-dependent myosin light chain kinase Pandey et al., 2015
SPINT1 SPINT1 Serine Peptidase Inhibitor, Kunitz Type 1 Inhibitor of HGF activator and matriptase Susen et al., 2019
PPAP2B LPP3; PLPP3; PAP-2b; PPAP2B Lipid phosphate phosphohydrolase 3; phospholipid phosphatase 3; phosphatidic acid phosphatase type 2B Hydrolyzes extracellular lysophosphatidic acid (LPA) and short-chain phosphatidic acid Ren et al., 2013
STRA6 STRA6 Signaling Receptor And Transporter Of Retinol STRA6 Retinol transporter Shao et al., 2015
SLC29A1 ENT1 Equilibrative nucleoside transporter 1 Sodium-independent transporter for purine and pyrimidine nucleosides and for some nucleobases Eltzschig et al., 2005
MYO5B MYO5B Myosin VB May be involved in vesicular trafficking via its association with the CART complex Shao et al., 2015
AJUBA JUB; AJUBA LIM Domain-Containing Protein Ajuba Adapter/scaffold protein Shao et al., 2015
TGFBR3 TGFBR3 Transforming Growth Factor Beta Receptor 3 Binds to TGF-α Chu et al., 2011
VASN VASN Vasorin May act as an inhibitor of TGF-beta signaling Choksi et al., 2011
ACAA2 ACAA2 Acetyl-CoA Acyltransferase 2; 3-ketoacyl-CoA thiolase, mitochondrial Catalyzes the last step of the mitochondrial fatty acid beta oxidation pathway Foll et al., 2014
PINK1 PINK1 PTEN Induced Kinase 1 Lin et al., 2014
SIRT1 SIRT1 Sirtuin 1 NAD-dependent deacetylase Chen et al., 2011
SIRT2 SIRT2 Sirtuin 2 NAD+ (nicotinamide adenine dinucleotide)-dependent deacetylase Ekambaram and Parasuraman, 2017
SOD2 SOD2 Superoxide Dismutase 2 Converts superoxide into hydrogen peroxide and diatomic oxygen van Patot and Gassmann, 2011
NARFL NARFL; CIAO3 Nuclear Prelamin A Recognition Factor-Like Protein; Cytosolic Iron-Sulfur Assembly Component 3 Component of the cytosolic iron-sulfur protein assembly (CIA) complex; seems to negatively regulate the level of HIF1A expression Huerta-Sánchez et al., 2013
COX1 COX-1; PTGS Cyclooxygenase; prostaglandin-endoperoxide synthase Key enzyme in prostaglandin biosynthesis Gautier-Veyret et al., 2013
ADAM9 ADAM9 Disintegrin and Metalloproteinase Domain-Containing Protein 9 Cleaves and releases a number of molecules with important roles in tumorigenesis and angiogenesis Ahmed et al., 2017
ADAMTS9 ADAMTS9 ADAM Metallopeptidase With Thrombospondin Type 1 Motif 9 Cleaves the large aggregating proteoglycans, aggrecan, and versican Rodríguez-Manzaneque et al., 2015
UBE2D1 UBE2D1 Ubiquitin-conjugating enzyme E2 D1 Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins David et al., 2010
SRF SRF Serum response factor Transcription factor Olson and Nordheim, 2010
TXNRD2 TXNRD2 Thioredoxin Reductase 2 Involved in the control of reactive oxygen species levels and the regulation of mitochondrial redox homeostasis Yoshioka, 2015
WNT7B WNT7B Wingless-Type MMTV Integration Site Family, Member 7B Ligand for frizzled family receptors; required for central nervous system (CNS) angiogenesis and blood-brain barrier regulation Qu et al., 2013
HHS Vulnerability Disclosure