Skip to main content

Table 3 Shows the differentially expressed genes and a description of their possible functions. Noting the expression of mRNA and protein in the lung using GTex data for Median Tags per Million (TPM) and protein atlas expression where data was available

From: Defining a role for lung function associated gene GSTCD in cell homeostasis

Gene Gene name Expression in the lung Literature search
GSTCD Glutathione S-transferase C-terminal domain containing mRNA: 3 TPM
Protein: Medium
 
LCP1 Lymphocyte cytosolic protein 1 mRNA: 121 TPM
Protein: High
Plastins are Actin binding proteins, L-plastin has been found in many types of malignant human cells of non-hemopoietic origin suggesting that its expression is induced accompanying tumorigenesis in solid tissues. It also has 2 calcium-binding domains and a calmodulin-binding domain. GWAS identified this gene in nonalcoholic fatty liver disease. mRNA 300% increase in biopsies from patients with NAFLD [26].
GPR176 G protein-coupled receptor 176 mRNA: 10 TPM
Protein: Medium
Gz-linked orphan G-protein coupled receptor. Gpr176 is expressed in a circadian manner by SCN neurons in the brain, and molecular characterization reveals that it represses cAMP signalling in an agonist-independent manner [27].
XLOC_020899   
C12orf49 C12 open reading frame 49 mRNA: Yes 34 TPM
Protein: Medium
Is a protein found to be expressed mainly in the thyroid and lung.
ETS1 V-ets erythroblastosis virus E26 oncogene homolog 1 mRNA: Yes 91 TPM
Protein: None
ETS is a transcription factor for the activation or repression of numerous genes involved in stem cell development, cell senescence and death and tumorigenesis. Meta-analysis GWAS of self-reported allergy [28, 29].
GPD1L Glycerol-3-phosphate dehydrogenase1-like mRNA: Yes 37 TPM
Protein: N/A
A protein found in the cytoplasm associated with the plasma membrane where it binds to the sodium channel SCN5A.
AKAP12 A kinase (PRKA) anchor protein 12 mRNA: Yes 66 TPM
Protein: Low
This protein directs the activity of protein kinase A by tethering the enzyme near its physiologic substrates at the cell periphery. It is a cell growth-related protein.
CUX2 CUT-LIKE 2 mRNA: None
Protein: None
Contains 4 DNA binding domains, 3 cut repeats and a homeodomain which also bind DNA. Possibly binding to promotor region of Ncam gene. CUX2 functions as an accessory factor that stimulates the repair of oxidative DNA damage. GWAS associated a SNP in the MYL2-CUX2 region with Gout [30]. These genes are associated with cholesterol and diabetes.
DESI2 DESUMOYLATING ISOPEPTIDASE 2 mRNA: Yes 32 TPM
Protein: N/A
Is predicted to have a papain-like fold and to function as a cysteine protease that removes SUMO from SUMO-modified proteins (SUMO small ubiquitin-like modifier). Is regulated in prostate metastasis [31].
UHMK1 U2AF HOMOLOGY MOTIF KINASE 1 mRNA: Yes 28 TPM
Protein: N/A
A serine/threonine protein kinase that promotes cell cycle progression through G1 by phosphorylation of the cyclin dependent kinase inhibitor 1B. It is also thought to function in the adult nervous system and the gene has been associated with schizophrenia. Whole genome analysis revealed a gene fusion between UHMK1 and DDR2 In well-differentiated liposarcoma [32].
IL6R Interleukin 6 receptor mRNA: Yes 30 TPM
Protein: N/A
The receptor of IL6 which is involved in the regulation of the immune response. Has been identified in many studies, SNPS in this gene show altered regulation in airway diseases such as asthma and COPD [33].
FAT2 FAT TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG OF, 2 mRNA: None
Protein: None
This tumour suppressor has 34 tandem cadherin-type motifs, 2 EGF domains, a laminin G domain, a transmembrane domain, a cytoplasmic proline rich region and a cytoplasmic RGD motif. Most likely a cell adhesion molecule controlling cell proliferation. Downregulated in A549 stable tumor cell line, obtained from human lung carcinoma upon exposure to Cobalt [34].
PPAP2C PHOSPHATIDIC ACID PHOSPHATASE TYPE 2C mRNA: Yes 9 TPM
Protein: N/A
Dephosphorylates Phosphatidic acid to form diacylglycerol. It has roles in metabolic pathways controlling glycerophospholipids and triacylglycerols, and in receptor-activated signal transduction mediated by phospholipase D.
TGFBR1 Transforming growth factor, beta receptor type 1 mRNA: Yes 25 TPM
Protein: Medium
A serine/threonine kinase receptor for TGFB1. The type 1 receptor mediates induction of several genes involved in cell-matrix interactions. A mutation in this gene was identified in some patients with Thoracic Aortic aneurysm [35]. An miR-18a-5p inhibits pulmonary fibrosis by targeting TGFB receptors [36].
TSPAN7 Tetraspanin 7 mRNA: Yes 69 TPM
Protein: None
This protein is a cell surface glycoprotein known to complex with integrins and a member of the transmembrane 4 superfamily. May have a role in control of neurite outgrowth.
ST6GALNAC1 ST6 ALPHA-N-ACETYL-NEURAMINYL-2,3-BETA-GALACTOSYL-1,3-N-ACETYLGALACTOSAMINIDE ALPHA-2,6-SIALYLTRANSFERASE 1 mRNA: Yes 6 TPM
Protein: High
This protein transfers a sialic acid to O-linked GalNAc residues. Usin+A15:D19g the genome-wide promoter activity profiles a novel marker candidate, ST6GALNAC1 for adenocarcinoma of the lung [37] was identified.