Introduction
Genetics of Parkinson’s disease
Autosomal dominant PD genes
SNCA
Gene name | Transcript number | Ensembl name | Genbank accession number | Protein length |
---|---|---|---|---|
SNCA
| 1. | SNCA-003 | NM_001146055 | 140 aa |
2. | SNCA-202 | NM_007308 | 112 aa | |
3. | SNCA-203 | – | 126 aa | |
4. | SNCA-201 | – | 126 aa | |
5. | SNCA-005 | – | 112 aa | |
6. | SNCA-001 | NM_001146054 | 140 aa | |
7. | SNCA-002 | NM_000345 | 140 aa | |
8. | SNCA-008 | – | 140 aa | |
9. | SNCA-006 | – | 140 aa | |
10. | SNCA-004 | – | 126 aa | |
11. | SNCA-010 | – | 98 aa | |
12. | SNCA-009 | – | 115 aa | |
13. | SNCA-007 | – | 67 aa | |
LRRK2
| 1. | LRRK2-002 | – | 1271 aa |
2. | LRRK2-004 | NM_198578 | 2527 aa | |
3. | LRRK2-005 | – | 207 aa | |
4. | LRRK2-001 | – | 521 aa | |
5. | LRRK2-003 | – | No protein | |
6. | LRRK2-006 | – | No protein | |
7. | LRRK2-007 | – | No protein | |
VPS35
| 1. | VPS35-001 | NM_018206 | 796 aa |
2. | VPS35-002 | – | 48 aa | |
3. | VPS35-011 | – | No protein | |
4. | VPS35-012 | – | No protein | |
5. | VPS35-006 | – | No protein | |
6. | VPS35-003 | – | No protein | |
7. | VPS35-010 | – | No protein | |
8. | VPS35-005 | – | 47 aa | |
9. | VPS35-008 | – | 41 aa | |
10. | VPS35-007 | – | No protein | |
11. | VPS35-004 | – | No protein |
LRRK2
VPS35
Autosomal recessive PD genes
Early-onset typical PD genes
Gene name | Transcript number | Ensembl name | Genbank accession number | Protein length |
---|---|---|---|---|
PARK2
| 1. | PARK2-004 | NM_004562 | 465 aa |
2. | PARK2-005 | NM_013987 | 437 aa | |
3. | PARK2-006 | NM_013988 | 316 aa | |
4. | PARK2-001 | – | 274 aa | |
5. | PARK2-003 | – | 274 aa | |
6. | PARK2-007 | – | 218 aa | |
7. | PARK2-201 | – | 176 aa | |
8. | PARK2-204 | – | 87 aa | |
9. | PARK2-002 | – | 368 aa | |
10. | PARK2-202 | – | 74 aa | |
11. | PARK2-203 | – | 201 aa | |
PINK1
| 1. | PINK1-001 | NM_032409 | 581 aa |
2. | PINK1-002 | – | No protein | |
3. | PINK1-003 | – | No protein | |
DJ1
| 1. | PARK7-004 | – | 189 aa |
2. | PARK7-002 | NM_001123377; NM_007262 | 189 aa | |
3. | PARK7-007 | – | No protein | |
4. | PARK7-001 | – | 189 aa | |
5. | PARK7-003 | – | 169 aa | |
6. | PARK7-008 | – | No protein | |
7. | PARK7-005 | – | 189 aa | |
8. | PARK7-006 | – | 189 aa | |
9. | PARK7-009 | – | No protein | |
10. | PARK7-010 | – | 160 aa | |
ATP13A2
| 1. | ATP13A2-001 | NM_022089 | 1180 aa |
2. | ATP13A2-002 | NM_001141974 | 1158 aa | |
3. | ATP13A2-005 | NM_001141973 | 1175 aa | |
4. | ATP13A2-004 | – | No protein | |
5. | ATP13A2-003 | – | No protein | |
6. | ATP13A2-010 | – | 191 aa | |
7. | ATP13A2-007 | – | 398 aa | |
8. | ATP13A2-014 | – | 258 aa | |
9. | ATP13A2-009 | – | 321 aa | |
10. | ATP13A2-006 | – | No protein | |
11. | ATP13A2-201 | – | 228 aa | |
12. | ATP13A2-013 | – | No protein | |
13. | ATP13A2-011 | – | 190 aa | |
14. | ATP13A2-012 | – | 191 aa | |
15. | ATP13A2-008 | – | 188 aa | |
PLA2G6
| 1. | PLA2G6-001 | NM_003560 | 806 aa |
2. | PLA2G6-201 | NM_001004426 | 752 aa | |
3. | PLA2G6-002 | NM_001199562 | 752 aa | |
4. | PLA2G6-025 | – | No protein | |
5. | PLA2G6-021 | – | No protein | |
6. | PLA2G6-014 | – | 166 aa | |
7. | PLA2G6-024 | – | No protein | |
8. | PLA2G6-013 | – | No protein | |
9. | PLA2G6-026 | – | 168 aa | |
10. | PLA2G6-015 | – | 120 aa | |
11. | PLA2G6-010 | – | 99 aa | |
12. | PLA2G6-023 | – | 226 aa | |
13. | PLA2G6-009 | – | No protein | |
14. | PLA2G6-027 | – | 51 aa | |
15. | PLA2G6-022 | – | No protein | |
16. | PLA2G6-012 | – | 151 aa | |
17. | PLA2G6-019 | – | 124 aa | |
18. | PLA2G6-011 | – | No protein | |
19. | PLA2G6-020 | – | No protein | |
20. | PLA2G6-008 | – | No protein | |
21. | PLA2G6-016 | – | 229 aa | |
22. | PLA2G6-005 | – | 99 aa | |
23. | PLA2G6-018 | – | 157 aa | |
24. | PLA2G6-003 | – | 99 aa | |
25. | PLA2G6-017 | – | 197 aa | |
26. | PLA2G6-007 | – | 80 aa | |
27. | PLA2G6-004 | – | No protein | |
28. | PLA2G6-006 | – | No protein | |
FBXO7
| 1. | FBXO7-003 | – | 41 aa |
2. | FBXO7-001 | NM_012179 | 522 aa | |
3. | FBXO7-004 | – | 49 aa | |
4. | FBXO7-005 | – | No protein | |
5. | FBXO7-006 | – | 129 aa | |
6. | FBXO7-002 | NM_001033024; NM_001257990 | 408 aa | |
7. | FBXO7-007 | – | 54 aa | |
8. | FBXO7-008 | – | No protein | |
9. | FBXO7-010 | – | No protein |
Juvenile atypical PD genes
X-linked parkinsonism
Gene name | Transcript number | Ensembl name | Genbank accession number | Protein length |
---|---|---|---|---|
TAF1
| 1. | TAF1-201 | NM_001286074 | 1895 aa |
2. | TAF1-009 | NM_138923 | 1872 aa | |
3. | TAF1-008 | NM_004606 | 1893 aa | |
4. | TAF1-014 | – | 458 aa | |
5. | TAF1-010 | – | 490 aa | |
6. | TAF1-021 | – | No protein | |
7. | TAF1-011 | – | No protein | |
8. | TAF1-013 | – | No protein | |
9. | TAF1-012 | – | No protein | |
10. | TAF1-015 | – | No protein | |
11. | TAF1-018 | – | No protein | |
12. | TAF1-016 | – | No protein | |
13. | TAF1-022 | – | No protein | |
14. | TAF1-023 | – | No protein | |
15. | TAF1-005 | – | No protein | |
16. | TAF1-006 | – | No protein | |
17. | TAF1-020 | – | No protein | |
18. | TAF1-019 | – | No protein | |
19. | TAF1-017 | – | 279 aa | |
20. | TAF1-007 | – | 150 aa | |
ATP6AP2
| 1. | ATP6AP2-004 | NM_005765 | 350 aa |
2. | ATP6AP2-007 | – | 203 aa | |
3. | ATP6AP2-005 | – | No protein | |
4. | ATP6AP2-006 | – | 243 aa | |
5. | ATP6AP2-001 | – | 259 aa | |
6. | ATP6AP2-003 | – | No protein | |
7. | ATP6AP2-002 | – | No protein |
Other PD-related genes
SNCAIP
Gene name | Transcript number | Ensembl name | Genbank accession number | Protein length |
---|---|---|---|---|
SNCAIP
| 1. | SNCAIP-019 | – | 135 aa |
2. | SNCAIP-003 | – | 66 aa | |
3. | SNCAIP-016 | – | 161 aa | |
4. | SNCAIP-017 | – | 98 aa | |
5. | SNCAIP-010 | – | 858 aa | |
6. | SNCAIP-001 | NM_005460 | 919 aa | |
7. | SNCAIP-204 | – | 113 aa | |
8. | SNCAIP-201 | NM_001242935 | 603 aa | |
9. | SNCAIP-004 | – | 66 aa | |
10. | SNCAIP-018 | – | 68 aa | |
11. | SNCAIP-002 | – | 1016 aa | |
12. | SNCAIP-006 | – | 62 aa | |
13. | SNCAIP-005 | – | No protein | |
14. | SNCAIP-007 | – | 66 aa | |
15. | SNCAIP-203 | – | 88 aa | |
16. | SNCAIP-202 | – | 62 aa | |
17. | SNCAIP-012 | – | 66 aa | |
18. | SNCAIP-011 | – | 88 aa | |
19. | SNCAIP-009 | – | 588 aa | |
20. | SNCAIP-008 | – | 113 aa | |
21. | SNCAIP-015 | – | 14 aa | |
22. | SNCAIP-013 | – | No protein | |
MAO-B
| 1. | MAOB-001 | NM_000898 | 520 aa |
2. | MAOB-002 | – | No protein | |
3. | MAOB-004 | – | No protein | |
GBA
| 1. | GBA-011 | – | No protein |
2. | GBA-001 | NM_000157 | 536 aa | |
3. | GBA-002 | NM_001005741; NM_001005742 | 536 aa | |
4. | GBA-003 | – | No protein | |
5. | GBA-009 | – | No protein | |
6. | GBA-015 | NM_001171812 | 487 aa | |
7. | GBA-016 | NM_001171811 | 449 aa | |
8. | GBA-005 | – | No protein | |
9. | GBA-012 | – | No protein | |
10. | GBA-006 | – | No protein | |
11. | GBA-010 | – | No protein | |
12. | GBA-014 | – | No protein | |
13. | GBA-007 | – | No protein | |
14. | GBA-013 | – | No protein | |
MAPT
| 1. | MAPT-204 | NM_005910 | 441 aa |
2. | MAPT-202 | NM_001123067 | 412 aa | |
3. | MAPT-201 | NM_016835 | 758 aa | |
4. | MAPT-205 | NM_001203251; NM_001203252 | 410 aa | |
5. | MAPT-203 | NM_001123066 | 776 aa | |
6. | MAPT-013 | – | No protein | |
7. | MAPT-001 | NM_016841 | 352 aa | |
8. | MAPT-002 | NM_016834 | 383 aa | |
9. | MAPT-006 | – | 410 aa | |
10. | MAPT-007 | – | 441 aa | |
11. | MAPT-008 | – | 758 aa | |
12. | MAPT-004 | – | 776 aa | |
13. | MAPT-003 | – | 412 aa | |
14. | MAPT-009 | – | 341 aa | |
15. | MAPT-014 | – | No protein | |
16. | MAPT-011 | – | 59 aa | |
17. | MAPT-010 | – | No protein | |
18. | MAPT-012 | – | No protein | |
SRRM2
| 1. | SRRM2-001 | NM_016333 | 2752 aa |
2. | SRRM2-201 | – | 311aa | |
3. | SRRM2-003 | – | 1018 aa | |
4. | SRRM2-006 | – | 297 aa | |
5. | SRRM2-004 | – | No protein | |
6. | SRRM2-007 | – | 895 aa | |
7. | SRRM2-011 | – | No protein | |
8. | SRRM2-028 | – | 94 aa | |
9. | SRRM2-012 | – | 115 aa | |
10. | SRRM2-013 | – | 251 aa | |
11. | SRRM2-029 | – | No protein | |
12. | SRRM2-014 | – | No protein | |
13. | SRRM2-030 | – | No protein | |
14. | SRRM2-015 | – | No protein | |
15. | SRRM2-016 | – | No protein | |
16. | SRRM2-017 | – | No protein | |
17. | SRRM2-009 | – | No protein | |
18. | SRRM2-018 | – | No protein | |
19. | SRRM2-019 | – | No protein | |
20. | SRRM2-022 | – | No protein | |
21. | SRRM2-020 | – | 184 aa | |
22. | SRRM2-021 | – | No protein | |
23. | SRRM2-023 | – | No protein | |
24. | SRRM2-024 | – | No protein | |
25. | SRRM2-025 | – | No protein | |
26. | SRRM2-026 | – | No protein | |
27. | SRRM2-010 | – | No protein | |
28. | SRRM2-027 | – | No protein | |
29. | SRRM2-031 | – | 78 aa | |
30 | SRRM2-032 | – | 41 aa | |
31. | SRRM2-033 | – | No protein |