GO:0001778 | plasma membrane repair |
GO:0006906 | vesicle fusion |
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) |
詳細情報を見る |
同義遺伝子名
LGMD2B, FLJ00175, FER1L1, Dysferlin, Fer-1-like protein 1, Dystrophy-associated fer-1-like protein, FLJ90168, DYSF
Refseq ID | NM_001130978 |
---|---|
Gene ID | 8291 |
Unigene ID | Hs.252180 |
Probe set ID | 218660_at [HG-U133_Plus_2] |
Ensembl ID | ENSG00000135636 |
GTEx ID | ENSG00000135636 |
IPR000008 | C2 calcium-dependent membrane targeting |
IPR008973 | C2 calcium/lipid-binding domain, CaLB |
IPR018029 | C2 membrane targeting protein |
8012357
9731526
9731527
10196375
10196377
10496277
11198284
11468312
11532985
11959863
12477932
12664320
12836053
14506282
14506716
14512171
14560310
14678801
14749532
15221058
15318348
15469449
15477515
15535137
15827562
15835269
16010686
16087766
16100712
16344560
16606933
16608842
16797397
16862423
16896923
16934466
16996541
17185750
17287450
17363620
17554076
17698709
17825554
17828519
17868276
17897828
18187620
18276788
18294055
18306167
18396043
18464913
18495154
18641458
18832576
18853459
19056867
19084402
19221801
19228595
19253956
19286669
19309282
19326120
19380584
19493611
19545895
19594366
19834057
19929428
20082313
20301480
20301582
20373350
20379614
20413686
20535123
20544924
20558759
20574037
20595382
20618995
20724702
21119217
21173544
21280221
21412170
21522182
21556485
21658164
22037454
22043020
22110769
22174839
22194990
22297152
22318734
22505724
22720081
22736764
23185377
23243261
23254335
23516275
23519732
23558685
23792176
23859474
23874603
24091414
24163370
24324551
24902367
9731526
9731527
10196375
10196377
10496277
11198284
11468312
11532985
11959863
12477932
12664320
12836053
14506282
14506716
14512171
14560310
14678801
14749532
15221058
15318348
15469449
15477515
15535137
15827562
15835269
16010686
16087766
16100712
16344560
16606933
16608842
16797397
16862423
16896923
16934466
16996541
17185750
17287450
17363620
17554076
17698709
17825554
17828519
17868276
17897828
18187620
18276788
18294055
18306167
18396043
18464913
18495154
18641458
18832576
18853459
19056867
19084402
19221801
19228595
19253956
19286669
19309282
19326120
19380584
19493611
19545895
19594366
19834057
19929428
20082313
20301480
20301582
20373350
20379614
20413686
20535123
20544924
20558759
20574037
20595382
20618995
20724702
21119217
21173544
21280221
21412170
21522182
21556485
21658164
22037454
22043020
22110769
22174839
22194990
22297152
22318734
22505724
22720081
22736764
23185377
23243261
23254335
23516275
23519732
23558685
23792176
23859474
23874603
24091414
24163370
24324551
24902367
Biological Process
Cellular Component
GO:0030659 | cytoplasmic vesicle membrane |
GO:0016021 | integral to membrane |
GO:0030027 | lamellipodium |
GO:0005886 | plasma membrane |
GO:0030315 | T-tubule |