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. 2021 Feb 27;22:74. doi: 10.1186/s12931-021-01665-4

Table 1.

List of the main commonly deregulated cilia/ciliopathy-associated genes (n = 24) in COPD patients

Genes Ids Uniprot Id Gene name Gene expression (Log2 fold change vs non-COPD) Ref HPAa SCb
Whole lung GSE47460 GSE57148 GSE76925 GSE103174 % P
BBS7 Q8IWZ6 Bardet-Biedl syndrome 7 protein 0.21 − 0.29 − 0.06 MCC  +  All
BBS9 Q3SYG4 Bardet-Biedl syndrome 9 protein − 0.01 0.13 0.04 [6] MCC  +  +  MCC
CALM3 P0DP25 Calmodulin-3 0.02 0.11 0.03 MCC  +  +  +  All
CEP78 Q5JTW2 Centrosomal protein of 78 kDa 0.10 0.10 − 0.05 NDC  +  +  MCC
DZIP1 Q86YF9 DAZ-interacting protein ½ 0.02 0.22 0.11 MCC  +  +  MCC
GLI2 P10070 GLI family zinc finger protein 2 0.04 0.20 0.20 [17, 18] All  +  All
NEK6 Q9HC98 Never in mitosis A-related kinase 6 0.05 0.40 0.09 0.08 [19] EC  +  All
NUBP2 Q9Y5Y2 Nucleotide-binding protein 2 − 0.01 − 0.56 0.09 All  +  +  All
PDE6D O43924 Retinal rod rhodopsin-sensitive cGMP 3′,5′-cyclic phosphodiesterase subunit delta 0.01 − 0.17 0.03 All  +  All
PRPF4 O43172 U4/U6 small nuclear ribonucleoprotein Prp4 0.15 0.03 0.04 All  +  All
PRPF8 Q6P2Q9 Pre-mRNA-processing-splicing factor 8 − 0.01 0.34 0.02 All  +  +  All
PTPDC1 A2A3K4 Protein tyrosine phosphatase domain-containing protein 1 − 0.02 0.12 0.04 NDC  +  All
TMEM138 Q9NPI0 Transmembrane protein 138 0.02 − 0.18 0.06 MCC  +  +  MCC
WDPCP 095876 WD repeat-containing and planar cell polarity effector protein fritz homolog − 0.02 0.21 − 0.09 [20] EC  +  +  MCC
Genes Ids Uniprot Id Gene name Gene expression (Log2 fold change vs non-COPD) Ref HPAa SCb
Small airway epithelial cells (SAEC) GSE11784 GSE37147 GSE56341 % P
ADAM15 Q13444 Disintegrin and metalloproteinase domain-containing protein 15 0.04 0.07 [21, 24] MCC  +  All
ADCY6 O43306 Adenylate cyclase type 6 0.02 0.02 MCC  +  EC
ANKMY2 Q8IV38 Ankyrin repeat and MYND domain-containing protein 2 0.35 − 0.01 ND  +  All
ARMC4 Q5T2S8 Armadillo repeat-containing protein 4 − 0.02 − 0.02 MCC  +  +  +  MCC
BBS4 Q96RK4 Bardet-Biedl syndrome 4 protein − 0.03 − 0.03 EC  +  +  MCC
DCDC2 Q9UHG0 Doublecortin domain-containing protein 2 − 0.03 − 0.05 [22, 23] All  +  +  MCC
EFCAB2 Q5VUJ9 Dynein regulatory complex protein 8 − 0.03 − 0.05 MCC  +  +  +  MCC
PROM2 Q8N271 Prominin-2 0.55 0.04 0.06 EC  +  +  EC
TTC23 Q5W5X9 Tetratricopeptide repeat protein 23 − 0.02 − 0.04 All  +  All
WDR34 Q96EX3 Cytoplasmic dynein 2 intermediate chain 2 0.40 0.01 [6] EC  +  +  +  MCC

aHPA, Human Protein Atlas protein localization (cell population)

bSC, Single cell transcriptomic signature: % (percentage of cell expressing the transcript of interest; + , low (< 25%); +  + , intermediate (25–50%); +  +  + , high (> 50%)) and P (principal cell population expressing the transcript of interest); MCC multiciliated cells, NDC non-differentiated cells, EC epithelial cells, All, epithelial and non-epithelial cells; ND not detected