Supplementary Table 1.
Functional annotation of investigated genes
| Official gene symbol | Gene name(s) | No. of studies included | Molecular function(s) |
|---|---|---|---|
| ADRA1A | Adrenergic, alpha-1A-, receptor | 1 | Adrenoceptor activity Alpha-adrenergic receptor activity Alpha1-adrenergic receptor activity Amine receptor activity |
| ADRB3 | Adrenergic, beta-3-, receptor | 3 | Adrenoceptor activity Beta-adrenergic receptor activity Amine receptor activity Beta-3-adrenergic receptor activity Adrenergic receptor binding Beta-3 adrenergic receptor binding Identical protein binding Protein homodimerization activity Amine binding Alcohol binding Protein dimerization activity Epinephrine binding Norepinephrine binding |
| AR | Androgen receptor | 1 | DNA binding Transcription factor activity Steroid hormone receptor activity Ligand-dependent nuclear receptor activity Androgen receptor activity Steroid binding Androgen binding Zinc ion binding Lipid binding Transcription activator activity Transcription regulator activity Hormone binding Ion binding Cation binding Sequence-specific DNA binding Metal ion binding Transition metal ion binding Protein dimerization activity |
| COL1A1 | Collagen, type I, alpha 1 | 7 | Structural molecule activity Extracellular matrix structural constituent Growth factor binding Identical protein binding Platelet-derived growth factor binding, |
| COL3A1 | Collagen, type III, alpha 1 | 4 | Integrin binding Structural molecule activity Extracellular matrix structural constituent Growth factor binding Protein complex binding SMAD binding Platelet-derived growth factor binding |
| COL18A1 | Collagen, type XVIII, alpha 1 | 1 | Structural molecule activity Extracellular matrix structural constituent Zinc ion binding Ion binding Cation binding Metal ion binding Transition metal ion binding |
| CPE | Carboxypeptidase E | 1 | Metallocarboxypeptidase activity Zinc ion binding |
| CYP17A1 | Cytochrome P450, family 17, subfamily A, polypeptide 1 | 1 | Steroid 17-alpha-monooxygenase activity Iron ion binding Steroid hydroxylase activity Electron carrier activity Oxygen binding Heme binding Ion binding Cation binding Metal ion binding Tetrapyrrole binding Transition metal ion binding |
| CYP19A1 | Cytochrome P450, family 19, subfamily A, polypeptide 1 | 1 | Iron ion binding Electron carrier activity Oxidoreductase activity Oxygen binding Heme binding Ion binding Cation binding Metal ion binding Tetrapyrrole binding Transition metal ion binding Aromatase activity |
| EDN1 | Endothelin 1 | 1 | Hormone activity Bombesin receptor binding Endothelin A receptor binding Endothelin B receptor binding |
| ESR1 | Estrogen receptor 1 | 1 | DNA binding Transcription factor activity Steroid hormone receptor activity Ligand-dependent nuclear receptor activity Steroid binding Zinc ion binding Lipid binding Promoter binding Nitric-oxide synthase regulator activity Estrogen receptor activity Transcription regulator activity Estrogen response element binding Hormone binding Ion binding Cation binding Sequence-specific DNA binding Metal ion binding transition Metal ion binding Protein N-terminus binding |
| ESR2 | Estrogen receptor 2 (ER beta) | 1 | DNA binding Transcription factor activity Steroid hormone receptor activity Transcription cofactor activity Transcription coactivator activity Ligand-dependent nuclear receptor activity Steroid binding transcription factor binding Zinc ion binding Lipid binding Transcription activator activity Estrogen receptor activity Transcription regulator activity Receptor regulator activity Receptor inhibitor activity Hormone binding Ion binding Cation binding Sequence-specific DNA binding Metal ion binding Transition metal ion binding Receptor antagonist activity |
| GSTM1 | Glutathione S-transferase mu 1 | 1 | Glutathione transferase activity |
| GSTP1 | Glutathione S-transferase pi 1 | 1 | Glutathione transferase activity |
| GSTT1 | Glutathione S-transferase theta 1 | 1 | Glutathione transferase activity |
| HTR2A | 5-Hydroxytryptamine (serotonin) receptor 2A | 1 | Serotonin receptor activity Amine receptor activity Protein complex binding Amine binding Serotonin binding |
| LAMC1 | Laminin, gamma 1 (formerly LAMB2) | 3 | Structural molecule activity Extracellular matrix structural constituent, |
| LOXL1 | Lysyl oxidase-like 1 | 3 | Copper ion binding Oxidoreductase activity Ion binding Cation binding Metal ion binding Transition metal ion binding |
| MMP1 | Matrix metallopeptidase 1 (interstitial collagenase) | 5 | Endopeptidase activity Metalloendopeptidase activity Calcium ion binding Peptidase activity Metallopeptidase activity Zinc ion binding Ion binding Cation binding Metal ion binding Transition metal ion binding Peptidase activity Acting on L-amino acid peptides |
| MMP10 | Matrix metallopeptidase 10 (stromelysin 2) | 1 | Endopeptidase activity Metalloendopeptidase activity Calcium ion binding Peptidase activity Metallopeptidase activity Zinc ion binding Ion binding Cation binding Metal ion binding Transition metal ion binding Peptidase activity Acting on L-amino acid peptides |
| MMP11 | Matrix metallopeptidase 11 (stromelysin 3) | 1 | Endopeptidase activity Metalloendopeptidase activity Calcium ion binding Peptidase activity Metallopeptidase activity Zinc ion binding Ion binding Cation binding Metal ion binding Transition metal ion binding Peptidase activity Acting on L-amino acid peptides |
| MMP2 | Matrix metallopeptidase 2 (gelatinase A, 72-kDa gelatinase, 72-kDa type IV collagenase) | 1 | Endopeptidase activity Metalloendopeptidase activity Calcium ion binding Peptidase activity Metallopeptidase activity Zinc ion binding Ion binding Cation binding Metal ion binding Transition metal ion binding Peptidase activity Acting on L-amino acid peptides |
| MMP3 | Matrix metallopeptidase 3 (stromelysin 1, progelatinase) | 3 | Endopeptidase activity Metalloendopeptidase activity Calcium ion binding Peptidase activity Metallopeptidase activity Zinc ion binding Ion binding Cation binding Metal ion binding Transition metal ion binding Peptidase activity Acting on L-amino acid peptides |
| MMP8 | Matrix metallopeptidase 8 (neutrophil collagenase) | 1 | Endopeptidase activity Metalloendopeptidase activity Calcium ion binding Peptidase activity Metallopeptidase activity Zinc ion binding Ion binding Cation binding Metal ion binding Transition metal ion binding Peptidase activity Acting on L-amino acid peptides |
| MMP9 | Matrix metallopeptidase 9 (gelatinase B, 92-kDa gelatinase, 92-kDa type IV collagenase) | 4 | Endopeptidase activity Metalloendopeptidase activity Calcium ion binding Peptidase activity Metallopeptidase activity Zinc ion binding Ion binding Cation binding Metal ion binding Transition metal ion binding Peptidase activity Acting on L-amino acid peptides |
| PARP1 | Poly (ADP-ribose) polymerase 1 | 1 | Telomere maintenance DNA repair Transcription Chromosome organization |
| PGR | Progesterone receptor | 1 | DNA binding transcription factor activity Steroid hormone receptor activity Ligand-dependent nuclear receptor activity Steroid binding Zinc ion binding Lipid binding Transcription regulator activity Ion binding Cation binding Sequence-specific DNA binding Metal ion binding Transition metal ion binding Protein N-terminus binding |
| PRCP | Prolylcarboxypeptidase (angiotensinase C) | 1 | Carboxypeptidase activity Serine hydrolase activity |
| TIMP1 | TIMP metallopeptidase inhibitor 1 | 1 | Enzyme inhibitor activity, Endopeptidase inhibitor activity Metalloendopeptidase inhibitor activity Metalloenzyme regulator activity Peptidase inhibitor activity Metalloenzyme inhibitor activity |
| TIMP3 | TIMP metallopeptidase inhibitor 3 | 1 | Enzyme inhibitor activity Endopeptidase inhibitor activity Metalloendopeptidase inhibitor activity Metalloenzyme regulator activity Peptidase inhibitor activity Metalloenzyme inhibitor activity |
| ZFAT | Zinc finger and AT hook domain containing | 1 | DNA binding Zinc ion binding Ion binding Cation binding Metal ion binding Transition metal ion binding |
Functions assigned from http://david.abcc.ncifcrf.gov.
Cartwright. Genetic association studies of LUTS and POP. Am J Obstet Gynecol 2015.