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UniProtKB - P50570 (DYN2_HUMAN)

Protein

Dynamin-2

Gene

DNM2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Plays a role in the regulation of neuron morphology, axon growth and formation of neuronal growth cones (By similarity). Plays an important role in vesicular trafficking processes, in particular endocytosis. Involved in cytokinesis (PubMed:12498685). Regulates maturation of apoptotic cell corpse-containing phagosomes by recruiting PIK3C3 to the phagosome membrane (By similarity).By similarity1 Publication

Miscellaneous

Overexpression of CNM- and CMT-related DNM2 mutants in COS7 cells, whatever the mutated domain, led to a reduction in clathrin-mediated receptor endocytosis associated with MAPK ERK-1 and ERK-2 impairment. The membrane trafficking impairment process may represent a common pathophysiological pathway in the autosomal forms of CNM DNM2-CMT neuropathy.

Catalytic activityi

GTP + H2O = GDP + phosphate.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi38 – 46GTPBy similarity9
Nucleotide bindingi205 – 211GTPBy similarity7
Nucleotide bindingi236 – 239GTPBy similarity4

GO - Molecular functioni

  • D2 dopamine receptor binding Source: Ensembl
  • enzyme binding Source: UniProtKB
  • GTPase activity Source: GO_Central
  • GTP binding Source: UniProtKB
  • microtubule binding Source: GO_Central
  • nitric-oxide synthase binding Source: Ensembl
  • phosphatidylinositol 3-kinase regulatory subunit binding Source: Ensembl
  • protein-containing complex binding Source: Ensembl
  • protein kinase binding Source: Ensembl
  • SH3 domain binding Source: UniProtKB
  • WW domain binding Source: Ensembl
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionHydrolase, Motor protein
Biological processEndocytosis, Phagocytosis
LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi3.6.5.5 2681
ReactomeiR-HSA-166016 Toll Like Receptor 4 (TLR4) Cascade
R-HSA-177504 Retrograde neurotrophin signalling
R-HSA-190873 Gap junction degradation
R-HSA-196025 Formation of annular gap junctions
R-HSA-203641 NOSTRIN mediated eNOS trafficking
R-HSA-2132295 MHC class II antigen presentation
R-HSA-432720 Lysosome Vesicle Biogenesis
R-HSA-432722 Golgi Associated Vesicle Biogenesis
R-HSA-437239 Recycling pathway of L1
R-HSA-8856828 Clathrin-mediated endocytosis
SignaLinkiP50570
SIGNORiP50570

Protein family/group databases

MoonDBiP50570 Curated
TCDBi1.R.1.1.1 the membrane contact site (mcs) family
8.A.34.1.4 the endophilin (endophilin) family

Names & Taxonomyi

Protein namesi
Recommended name:
Dynamin-2 (EC:3.6.5.5)
Gene namesi
Name:DNM2
Synonyms:DYN2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000079805.16
HGNCiHGNC:2974 DNM2
MIMi602378 gene
neXtProtiNX_P50570

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Coated pit, Cytoplasm, Cytoplasmic vesicle, Cytoskeleton, Membrane, Microtubule, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Involvement in diseasei

Myopathy, centronuclear, 1 (CNM1)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:160150
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031962368E → K in CNM1. 2 PublicationsCorresponds to variant dbSNP:rs121909092EnsemblClinVar.1
Natural variantiVAR_068365368E → Q in CNM1. 1 Publication1
Natural variantiVAR_031963369R → Q in CNM1. 1 PublicationCorresponds to variant dbSNP:rs121909089EnsemblClinVar.1
Natural variantiVAR_031964369R → W in CNM1; reduced association with the centrosome. 1 PublicationCorresponds to variant dbSNP:rs121909090EnsemblClinVar.1
Natural variantiVAR_031965465R → W in CNM1; reduced association with the centrosome; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. 3 PublicationsCorresponds to variant dbSNP:rs121909091EnsemblClinVar.1
Natural variantiVAR_068366522R → C in CNM1. 1 Publication1
Natural variantiVAR_068367522R → H in CNM1. 1 PublicationCorresponds to variant dbSNP:rs587783595EnsemblClinVar.1
Natural variantiVAR_068368523R → G in CNM1. 1 PublicationCorresponds to variant dbSNP:rs587783596EnsemblClinVar.1
Natural variantiVAR_068369560E → K in CNM1. 1 PublicationCorresponds to variant dbSNP:rs879254086EnsemblClinVar.1
Natural variantiVAR_068370618A → D in CNM1. 1 Publication1
Natural variantiVAR_039041618A → T in CNM1; severe. 2 Publications1
Natural variantiVAR_039042619S → L in CNM1; severe. 2 PublicationsCorresponds to variant dbSNP:rs121909095EnsemblClinVar.1
Natural variantiVAR_039043619S → W in CNM1; severe. 1 PublicationCorresponds to variant dbSNP:rs121909095EnsemblClinVar.1
Natural variantiVAR_068371621L → P in CNM1; centronuclear myopathy with cataracts. 1 PublicationCorresponds to variant dbSNP:rs587783597EnsemblClinVar.1
Natural variantiVAR_039044625Missing in CNM1; severe; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. 2 Publications1
Natural variantiVAR_068372627P → H in CNM1. 1 Publication1
Natural variantiVAR_068373627P → R in CNM1. 1 PublicationCorresponds to variant dbSNP:rs587783598EnsemblClinVar.1
Natural variantiVAR_062576650E → K in CNM1; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. 1 Publication1
Lethal congenital contracture syndrome 5 (LCCS5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615368
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070163379F → V in LCCS5; hypomorphic mutation impacting on endocytosis. 1 PublicationCorresponds to variant dbSNP:rs397514735EnsemblClinVar.1
Charcot-Marie-Tooth disease, dominant, intermediate type, B (CMTDIB)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:606482
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031966555 – 557Missing in CMTDIB; may affect binding to vesicles and membranes in favor of binding to microtubules; may affect receptor-mediated endocytosis. 1 Publication3
Natural variantiVAR_031967562K → E in CMTDIB; with neutropenia; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. 2 PublicationsCorresponds to variant dbSNP:rs121909088EnsemblClinVar.1
Natural variantiVAR_070164562Missing in CMTDIB. 1 Publication1
Charcot-Marie-Tooth disease 2M (CMT2M)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:606482
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068425358G → R in CMT2M. 1 PublicationCorresponds to variant dbSNP:rs267606772EnsemblClinVar.1
Natural variantiVAR_062574537G → C in CMT2M. 1 PublicationCorresponds to variant dbSNP:rs121909093EnsemblClinVar.1
Natural variantiVAR_062575570L → H in CMT2M. 1 PublicationCorresponds to variant dbSNP:rs121909094EnsemblClinVar.1

Keywords - Diseasei

Charcot-Marie-Tooth disease, Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNETi1785
GeneReviewsiDNM2
MalaCardsiDNM2
MIMi160150 phenotype
606482 phenotype
615368 phenotype
OpenTargetsiENSG00000079805
Orphaneti169189 Autosomal dominant centronuclear myopathy
228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M
100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome
PharmGKBiPA27442

Chemistry databases

ChEMBLiCHEMBL5812

Polymorphism and mutation databases

BioMutaiDNM2
DMDMi47117856

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002065701 – 870Dynamin-2Add BLAST870

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei231PhosphotyrosineBy similarity1
Modified residuei299N6-acetyllysineBy similarity1
Modified residuei597PhosphotyrosineBy similarity1
Modified residuei598N6-acetyllysineCombined sources1
Modified residuei755PhosphothreonineCombined sources1
Modified residuei764Phosphoserine; by CDK1By similarity1

Post-translational modificationi

Phosphorylation at Ser-764 by CDK1 is greatly increased upon mitotic entry. It regulates cytokinesis downstream of calcineurin, and does not affect clathrin-mediated endocytosis. Dephosphorylated by calcineurin/PP2 (By similarity). Phosphorylated on tyrosine residues after activation of SRC (By similarity).By similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP50570
MaxQBiP50570
PaxDbiP50570
PeptideAtlasiP50570
PRIDEiP50570
ProteomicsDBi56250
56251 [P50570-2]

PTM databases

iPTMnetiP50570
PhosphoSitePlusiP50570
SwissPalmiP50570

Expressioni

Tissue specificityi

Ubiquitously expressed.

Gene expression databases

BgeeiENSG00000079805 Expressed in 184 organ(s), highest expression level in cortex of kidney
CleanExiHS_DNM2
ExpressionAtlasiP50570 baseline and differential
GenevisibleiP50570 HS

Organism-specific databases

HPAiHPA054246

Interactioni

Subunit structurei

Interacts with MYOF (By similarity). Interacts with CTTN and ACTN1 (By similarity). Interacts with SHANK1, SHANK2, SH3BP4 and NOSTRIN. Interacts with SNX9. Interacts with SNX33 (via SH3 domain). Interacts with MYO1E (via SH3 domain). Interacts with PSTPIP1. Interacts with CTNND2 (PubMed:22022388). May interact with PIK3C3 (By similarity). May be a component of a complex composed of RAB5A (in GDP-bound form), DYN2 and PIK3C3 (By similarity).By similarity8 Publications

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi108122, 128 interactors
CORUMiP50570
DIPiDIP-31244N
ELMiP50570
IntActiP50570, 108 interactors
MINTiP50570
STRINGi9606.ENSP00000347890

Chemistry databases

BindingDBiP50570

Structurei

Secondary structure

1870
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP50570
SMRiP50570
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP50570

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini28 – 294Dynamin-type GPROSITE-ProRule annotationAdd BLAST267
Domaini519 – 625PHPROSITE-ProRule annotationAdd BLAST107
Domaini653 – 744GEDPROSITE-ProRule annotationAdd BLAST92

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni38 – 45G1 motifPROSITE-ProRule annotation8
Regioni64 – 66G2 motifPROSITE-ProRule annotation3
Regioni136 – 139G3 motifPROSITE-ProRule annotation4
Regioni205 – 208G4 motifPROSITE-ProRule annotation4
Regioni235 – 238G5 motifPROSITE-ProRule annotation4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi747 – 866Pro-richAdd BLAST120

Sequence similaritiesi

Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG0446 Eukaryota
COG0699 LUCA
GeneTreeiENSGT00760000119213
HOGENOMiHOG000161069
HOVERGENiHBG107833
InParanoidiP50570
KOiK01528
OMAiANRYIPE
OrthoDBiEOG091G0EIQ
PhylomeDBiP50570
TreeFamiTF300362

Family and domain databases

CDDicd08771 DLP_1, 1 hit
Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR027188 DNM2
IPR000375 Dynamin_central
IPR001401 Dynamin_GTPase
IPR019762 Dynamin_GTPase_CS
IPR022812 Dynamin_SF
IPR030381 G_DYNAMIN_dom
IPR003130 GED
IPR020850 GED_dom
IPR027417 P-loop_NTPase
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
PANTHERiPTHR11566 PTHR11566, 1 hit
PTHR11566:SF23 PTHR11566:SF23, 1 hit
PfamiView protein in Pfam
PF01031 Dynamin_M, 1 hit
PF00350 Dynamin_N, 1 hit
PF02212 GED, 1 hit
PF00169 PH, 1 hit
PRINTSiPR00195 DYNAMIN
SMARTiView protein in SMART
SM00053 DYNc, 1 hit
SM00302 GED, 1 hit
SM00233 PH, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS00410 G_DYNAMIN_1, 1 hit
PS51718 G_DYNAMIN_2, 1 hit
PS51388 GED, 1 hit
PS50003 PH_DOMAIN, 1 hit

Sequences (5+)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P50570-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGNRGMEELI PLVNKLQDAF SSIGQSCHLD LPQIAVVGGQ SAGKSSVLEN 
        60         70         80         90        100
FVGRDFLPRG SGIVTRRPLI LQLIFSKTEH AEFLHCKSKK FTDFDEVRQE 
       110        120        130        140        150
IEAETDRVTG TNKGISPVPI NLRVYSPHVL NLTLIDLPGI TKVPVGDQPP 
       160        170        180        190        200
DIEYQIKDMI LQFISRESSL ILAVTPANMD LANSDALKLA KEVDPQGLRT 
       210        220        230        240        250
IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK DIEGKKDIRA 
       260        270        280        290        300
ALAAERKFFL SHPAYRHMAD RMGTPHLQKT LNQQLTNHIR ESLPALRSKL 
       310        320        330        340        350
QSQLLSLEKE VEEYKNFRPD DPTRKTKALL QMVQQFGVDF EKRIEGSGDQ 
       360        370        380        390        400
VDTLELSGGA RINRIFHERF PFELVKMEFD EKDLRREISY AIKNIHGVRT 
       410        420        430        440        450
GLFTPDLAFE AIVKKQVVKL KEPCLKCVDL VIQELINTVR QCTSKLSSYP 
       460        470        480        490        500
RLREETERIV TTYIREREGR TKDQILLLID IEQSYINTNH EDFIGFANAQ 
       510        520        530        540        550
QRSTQLNKKR AIPNQGEILV IRRGWLTINN ISLMKGGSKE YWFVLTAESL 
       560        570        580        590        600
SWYKDEEEKE KKYMLPLDNL KIRDVEKGFM SNKHVFAIFN TEQRNVYKDL 
       610        620        630        640        650
RQIELACDSQ EDVDSWKASF LRAGVYPEKD QAENEDGAQE NTFSMDPQLE 
       660        670        680        690        700
RQVETIRNLV DSYVAIINKS IRDLMPKTIM HLMINNTKAF IHHELLAYLY 
       710        720        730        740        750
SSADQSSLME ESADQAQRRD DMLRMYHALK EALNIIGDIS TSTVSTPVPP 
       760        770        780        790        800
PVDDTWLQSA SSHSPTPQRR PVSSIHPPGR PPAVRGPTPG PPLIPVPVGA 
       810        820        830        840        850
AASFSAPPIP SRPGPQSVFA NSDLFPAPPQ IPSRPVRIPP GIPPGVPSRR 
       860        870
PPAAPSRPTI IRPAEPSLLD
Length:870
Mass (Da):98,064
Last modified:May 10, 2004 - v2
Checksum:i2F4567B75980935D
GO
Isoform 2 (identifier: P50570-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     516-519: Missing.

Show »
Length:866
Mass (Da):97,652
Checksum:iC76BA1762A012127
GO
Isoform 3 (identifier: P50570-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     407-444: LAFEAIVKKQ...LINTVRQCTS → MAFEAIVKKQ...LATVIKKCAE
     516-519: Missing.

Show »
Length:866
Mass (Da):97,554
Checksum:i566396D3E6159245
GO
Isoform 4 (identifier: P50570-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     407-444: LAFEAIVKKQ...LINTVRQCTS → MAFEAIVKKQ...LATVIKKCAE

Note: Gene prediction based on EST data.
Show »
Length:870
Mass (Da):97,966
Checksum:i9018503EA888A4F8
GO
Isoform 5 (identifier: P50570-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     848-848: Missing.

Note: No experimental confirmation available.
Show »
Length:869
Mass (Da):97,977
Checksum:iC33CD394EC8F1A6E
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7ENE7K7ENE7_HUMAN
Dynamin-2
DNM2
137Annotation score:
K7EMQ3K7EMQ3_HUMAN
Dynamin-2
DNM2
289Annotation score:
K7EPK9K7EPK9_HUMAN
Dynamin-2
DNM2
50Annotation score:
K7EMR9K7EMR9_HUMAN
Dynamin-2
DNM2
169Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti155 – 156QI → RV in AAA88025 (PubMed:7590285).Curated2
Sequence conflicti207L → P in AK312260 (PubMed:14702039).Curated1
Sequence conflicti316N → I in AAA88025 (PubMed:7590285).Curated1
Sequence conflicti324R → P in AAA88025 (PubMed:7590285).Curated1
Sequence conflicti475I → T in AK312260 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031961263P → L. Corresponds to variant dbSNP:rs3745674EnsemblClinVar.1
Natural variantiVAR_068425358G → R in CMT2M. 1 PublicationCorresponds to variant dbSNP:rs267606772EnsemblClinVar.1
Natural variantiVAR_031962368E → K in CNM1. 2 PublicationsCorresponds to variant dbSNP:rs121909092EnsemblClinVar.1
Natural variantiVAR_068365368E → Q in CNM1. 1 Publication1
Natural variantiVAR_031963369R → Q in CNM1. 1 PublicationCorresponds to variant dbSNP:rs121909089EnsemblClinVar.1
Natural variantiVAR_031964369R → W in CNM1; reduced association with the centrosome. 1 PublicationCorresponds to variant dbSNP:rs121909090EnsemblClinVar.1
Natural variantiVAR_070163379F → V in LCCS5; hypomorphic mutation impacting on endocytosis. 1 PublicationCorresponds to variant dbSNP:rs397514735EnsemblClinVar.1
Natural variantiVAR_031965465R → W in CNM1; reduced association with the centrosome; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. 3 PublicationsCorresponds to variant dbSNP:rs121909091EnsemblClinVar.1
Natural variantiVAR_068366522R → C in CNM1. 1 Publication1
Natural variantiVAR_068367522R → H in CNM1. 1 PublicationCorresponds to variant dbSNP:rs587783595EnsemblClinVar.1
Natural variantiVAR_068368523R → G in CNM1. 1 PublicationCorresponds to variant dbSNP:rs587783596EnsemblClinVar.1
Natural variantiVAR_062574537G → C in CMT2M. 1 PublicationCorresponds to variant dbSNP:rs121909093EnsemblClinVar.1
Natural variantiVAR_031966555 – 557Missing in CMTDIB; may affect binding to vesicles and membranes in favor of binding to microtubules; may affect receptor-mediated endocytosis. 1 Publication3
Natural variantiVAR_068369560E → K in CNM1. 1 PublicationCorresponds to variant dbSNP:rs879254086EnsemblClinVar.1
Natural variantiVAR_031967562K → E in CMTDIB; with neutropenia; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. 2 PublicationsCorresponds to variant dbSNP:rs121909088EnsemblClinVar.1
Natural variantiVAR_070164562Missing in CMTDIB. 1 Publication1
Natural variantiVAR_062575570L → H in CMT2M. 1 PublicationCorresponds to variant dbSNP:rs121909094EnsemblClinVar.1
Natural variantiVAR_068370618A → D in CNM1. 1 Publication1
Natural variantiVAR_039041618A → T in CNM1; severe. 2 Publications1
Natural variantiVAR_039042619S → L in CNM1; severe. 2 PublicationsCorresponds to variant dbSNP:rs121909095EnsemblClinVar.1
Natural variantiVAR_039043619S → W in CNM1; severe. 1 PublicationCorresponds to variant dbSNP:rs121909095EnsemblClinVar.1
Natural variantiVAR_068371621L → P in CNM1; centronuclear myopathy with cataracts. 1 PublicationCorresponds to variant dbSNP:rs587783597EnsemblClinVar.1
Natural variantiVAR_039044625Missing in CNM1; severe; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. 2 Publications1
Natural variantiVAR_068372627P → H in CNM1. 1 Publication1
Natural variantiVAR_068373627P → R in CNM1. 1 PublicationCorresponds to variant dbSNP:rs587783598EnsemblClinVar.1
Natural variantiVAR_062576650E → K in CNM1; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_044280407 – 444LAFEA…RQCTS → MAFEAIVKKQIVKLKEPSLK CVDLVVSELATVIKKCAE in isoform 3 and isoform 4. 1 PublicationAdd BLAST38
Alternative sequenceiVSP_001325516 – 519Missing in isoform 2 and isoform 3. 3 Publications4
Alternative sequenceiVSP_047534848Missing in isoform 5. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L36983 mRNA Translation: AAA88025.1
AK289831 mRNA Translation: BAF82520.1
AK312260 mRNA No translation available.
AC007229 Genomic DNA Translation: AAD23604.1
AC011475 Genomic DNA No translation available.
AC011552 Genomic DNA No translation available.
AC011554 Genomic DNA No translation available.
AC112707 Genomic DNA No translation available.
BC039596 mRNA Translation: AAH39596.1
BC054501 mRNA Translation: AAH54501.1
CCDSiCCDS32907.1 [P50570-2]
CCDS32908.1 [P50570-3]
CCDS45968.1 [P50570-1]
CCDS45969.1 [P50570-4]
CCDS59351.1 [P50570-5]
PIRiJC4305
RefSeqiNP_001005360.1, NM_001005360.2 [P50570-1]
NP_001005361.1, NM_001005361.2 [P50570-4]
NP_001005362.1, NM_001005362.2 [P50570-3]
NP_001177645.1, NM_001190716.1 [P50570-5]
NP_004936.2, NM_004945.3 [P50570-2]
UniGeneiHs.211463

Genome annotation databases

EnsembliENST00000355667; ENSP00000347890; ENSG00000079805 [P50570-1]
ENST00000359692; ENSP00000352721; ENSG00000079805 [P50570-2]
ENST00000389253; ENSP00000373905; ENSG00000079805 [P50570-4]
ENST00000408974; ENSP00000386192; ENSG00000079805 [P50570-3]
ENST00000585892; ENSP00000468734; ENSG00000079805 [P50570-5]
GeneIDi1785
KEGGihsa:1785
UCSCiuc002mps.3 human [P50570-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

The UMD-DNM2-isoform 1 mutations database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L36983 mRNA Translation: AAA88025.1
AK289831 mRNA Translation: BAF82520.1
AK312260 mRNA No translation available.
AC007229 Genomic DNA Translation: AAD23604.1
AC011475 Genomic DNA No translation available.
AC011552 Genomic DNA No translation available.
AC011554 Genomic DNA No translation available.
AC112707 Genomic DNA No translation available.
BC039596 mRNA Translation: AAH39596.1
BC054501 mRNA Translation: AAH54501.1
CCDSiCCDS32907.1 [P50570-2]
CCDS32908.1 [P50570-3]
CCDS45968.1 [P50570-1]
CCDS45969.1 [P50570-4]
CCDS59351.1 [P50570-5]
PIRiJC4305
RefSeqiNP_001005360.1, NM_001005360.2 [P50570-1]
NP_001005361.1, NM_001005361.2 [P50570-4]
NP_001005362.1, NM_001005362.2 [P50570-3]
NP_001177645.1, NM_001190716.1 [P50570-5]
NP_004936.2, NM_004945.3 [P50570-2]
UniGeneiHs.211463

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YS1NMR-A520-625[»]
ProteinModelPortaliP50570
SMRiP50570
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108122, 128 interactors
CORUMiP50570
DIPiDIP-31244N
ELMiP50570
IntActiP50570, 108 interactors
MINTiP50570
STRINGi9606.ENSP00000347890

Chemistry databases

BindingDBiP50570
ChEMBLiCHEMBL5812

Protein family/group databases

MoonDBiP50570 Curated
TCDBi1.R.1.1.1 the membrane contact site (mcs) family
8.A.34.1.4 the endophilin (endophilin) family

PTM databases

iPTMnetiP50570
PhosphoSitePlusiP50570
SwissPalmiP50570

Polymorphism and mutation databases

BioMutaiDNM2
DMDMi47117856

Proteomic databases

EPDiP50570
MaxQBiP50570
PaxDbiP50570
PeptideAtlasiP50570
PRIDEiP50570
ProteomicsDBi56250
56251 [P50570-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000355667; ENSP00000347890; ENSG00000079805 [P50570-1]
ENST00000359692; ENSP00000352721; ENSG00000079805 [P50570-2]
ENST00000389253; ENSP00000373905; ENSG00000079805 [P50570-4]
ENST00000408974; ENSP00000386192; ENSG00000079805 [P50570-3]
ENST00000585892; ENSP00000468734; ENSG00000079805 [P50570-5]
GeneIDi1785
KEGGihsa:1785
UCSCiuc002mps.3 human [P50570-1]

Organism-specific databases

CTDi1785
DisGeNETi1785
EuPathDBiHostDB:ENSG00000079805.16
GeneCardsiDNM2
GeneReviewsiDNM2
HGNCiHGNC:2974 DNM2
HPAiHPA054246
MalaCardsiDNM2
MIMi160150 phenotype
602378 gene
606482 phenotype
615368 phenotype
neXtProtiNX_P50570
OpenTargetsiENSG00000079805
Orphaneti169189 Autosomal dominant centronuclear myopathy
228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M
100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome
PharmGKBiPA27442
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0446 Eukaryota
COG0699 LUCA
GeneTreeiENSGT00760000119213
HOGENOMiHOG000161069
HOVERGENiHBG107833
InParanoidiP50570
KOiK01528
OMAiANRYIPE
OrthoDBiEOG091G0EIQ
PhylomeDBiP50570
TreeFamiTF300362

Enzyme and pathway databases

BRENDAi3.6.5.5 2681
ReactomeiR-HSA-166016 Toll Like Receptor 4 (TLR4) Cascade
R-HSA-177504 Retrograde neurotrophin signalling
R-HSA-190873 Gap junction degradation
R-HSA-196025 Formation of annular gap junctions
R-HSA-203641 NOSTRIN mediated eNOS trafficking
R-HSA-2132295 MHC class II antigen presentation
R-HSA-432720 Lysosome Vesicle Biogenesis
R-HSA-432722 Golgi Associated Vesicle Biogenesis
R-HSA-437239 Recycling pathway of L1
R-HSA-8856828 Clathrin-mediated endocytosis
SignaLinkiP50570
SIGNORiP50570

Miscellaneous databases

ChiTaRSiDNM2 human
EvolutionaryTraceiP50570
GeneWikiiDNM2
GenomeRNAii1785
PROiPR:P50570
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000079805 Expressed in 184 organ(s), highest expression level in cortex of kidney
CleanExiHS_DNM2
ExpressionAtlasiP50570 baseline and differential
GenevisibleiP50570 HS

Family and domain databases

CDDicd08771 DLP_1, 1 hit
Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR027188 DNM2
IPR000375 Dynamin_central
IPR001401 Dynamin_GTPase
IPR019762 Dynamin_GTPase_CS
IPR022812 Dynamin_SF
IPR030381 G_DYNAMIN_dom
IPR003130 GED
IPR020850 GED_dom
IPR027417 P-loop_NTPase
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
PANTHERiPTHR11566 PTHR11566, 1 hit
PTHR11566:SF23 PTHR11566:SF23, 1 hit
PfamiView protein in Pfam
PF01031 Dynamin_M, 1 hit
PF00350 Dynamin_N, 1 hit
PF02212 GED, 1 hit
PF00169 PH, 1 hit
PRINTSiPR00195 DYNAMIN
SMARTiView protein in SMART
SM00053 DYNc, 1 hit
SM00302 GED, 1 hit
SM00233 PH, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS00410 G_DYNAMIN_1, 1 hit
PS51718 G_DYNAMIN_2, 1 hit
PS51388 GED, 1 hit
PS50003 PH_DOMAIN, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDYN2_HUMAN
AccessioniPrimary (citable) accession number: P50570
Secondary accession number(s): A8K1B6
, E7EV30, E9PEQ4, K7ESI9, Q5I0Y0, Q7Z5S3, Q9UPH4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: May 10, 2004
Last modified: November 7, 2018
This is version 199 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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Main funding by: National Institutes of Health

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