DYN2_HUMAN
Source:
hRBCD
; ID:
IPI00033022
PM19886704
PM23856902
PM22954596
Marked as 'Membrane associated protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
DNM2
, DYN2
Protein names and data:
DYN2_HUMAN
, Dynamin-2; 3.6.5.5
Lenght: 870 a.a.
Mass: 98064 Da
fasta formatted sequence
Function:
Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Most probably involved in vesicular trafficking processes, in particular endocytosis. Involved in cytokinesis.
Catalytic activity:
GTP + H(2)O = GDP + phosphate.
Disease:
( OMIM:
160150
602378
606482
615368
)
Myopathy, centronuclear, 1 (CNM1) [MIM:160150]: A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. Note=The disease is caused by mutations affecting the gene represented in this entry. Lethal congenital contracture syndrome 5 (LCCS5) [MIM:615368]: A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. Note=The disease is caused by mutations affecting the gene represented in this entry. Charcot-Marie-Tooth disease, dominant, intermediate type, B (CMTDIB) [MIM:606482]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type B is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. Note=The disease is caused by mutations affecting the gene represented in this entry. Charcot-Marie-Tooth disease 2M (CMT2M) [MIM:606482]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm. Cytoplasm, cytoskeleton. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell junction, synapse. Midbody. Note=Microtubule- associated. Also found in the postsynaptic density of neuronal cells.
Tissue specificity:
Ubiquitously expressed.
Genetic variants
263 - 263
P -> L (in dbSNP:rs3745674). VAR_031961
3745674
358 - 358
G -> R (in CMT2M). VAR_068425
368 - 368
E -> K (in CNM1). VAR_031962
368 - 368
E -> Q (in CNM1). VAR_068365
369 - 369
R -> Q (in CNM1). VAR_031963
369 - 369
R -> W (in CNM1; reduced association with the centrosome). VAR_031964
379 - 379
F -> V (in LCCS5; hypomorphic mutation impacting on endocytosis). VAR_070163
465 - 465
R -> W (in CNM1; reduced association with the centrosome; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex). VAR_031965
522 - 522
R -> C (in CNM1). VAR_068366
522 - 522
R -> H (in CNM1). VAR_068367
523 - 523
R -> G (in CNM1). VAR_068368
537 - 537
G -> C (in CMT2M). VAR_062574
555 - 557
Missing (in CMTDIB; may affect binding to vesicles and membranes in favor of binding to microtubules; may affect receptor-mediated endocytosis). VAR_031966
560 - 560
E -> K (in CNM1). VAR_068369
562 - 562
K -> E (in CMTDIB; with neutropenia; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex). VAR_031967
562 - 562
Missing (in CMTDIB). VAR_070164
570 - 570
L -> H (in CMT2M). VAR_062575
618 - 618
A -> D (in CNM1). VAR_068370
618 - 618
A -> T (in CNM1; severe). VAR_039041
619 - 619
S -> L (in CNM1; severe). VAR_039042
619 - 619
S -> W (in CNM1; severe). VAR_039043
621 - 621
L -> P (in CNM1; centronuclear myopathy with cataracts). VAR_068371
625 - 625
Missing (in CNM1; severe; COS7 cells show a reduced uptake of transferrin and low- density lipoprotein complex). VAR_039044
627 - 627
P -> H (in CNM1). VAR_068372
627 - 627
P -> R (in CNM1). VAR_068373
650 - 650
E -> K (in CNM1; COS7 cells show a reduced uptake of transferrin and low- density lipoprotein complex). VAR_062576
Database cross-references
UniProt:
P50570
Ensembl:
ENST00000355667
Ensembl:
ENST00000359692
Ensembl:
ENST00000389253
Ensembl:
ENST00000408974
Ensembl:
ENST00000585892
MIM:
160150
MIM:
602378
MIM:
606482
MIM:
615368
neXtProt:
NX_P50570
Antibodypedia:
P50570
(may not find the protein thus also not any antibody)
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