UniProtKB - P50570 (DYN2_HUMAN)
Dynamin-2
DNM2
Functioni
Miscellaneous
Catalytic activityi
- EC:3.6.5.5
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 38 – 46 | GTPBy similarity | 9 | |
Nucleotide bindingi | 205 – 211 | GTPBy similarity | 7 | |
Nucleotide bindingi | 236 – 239 | GTPBy similarity | 4 |
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
GO - Biological processi
- antigen processing and presentation of exogenous peptide antigen via MHC class II Source: Reactome
- aorta development Source: Ensembl
- cellular response to carbon monoxide Source: Ensembl
- cellular response to dopamine Source: Ensembl
- cellular response to nitric oxide Source: Ensembl
- cellular response to X-ray Source: Ensembl
- coronary vasculature development Source: Ensembl
- dynamin family protein polymerization involved in mitochondrial fission Source: GO_Central
- endocytosis Source: UniProtKB
- G2/M transition of mitotic cell cycle Source: UniProtKB
- Golgi to plasma membrane transport Source: Ensembl
- G protein-coupled receptor internalization Source: Ensembl
- macropinocytosis Source: Ensembl
- membrane fusion Source: GO_Central
- membrane organization Source: Reactome
- mitochondrial fission Source: GO_Central
- negative regulation of membrane tubulation Source: UniProtKB
- negative regulation of non-motile cilium assembly Source: Ensembl
- negative regulation of transforming growth factor beta receptor signaling pathway Source: Ensembl
- neuron projection morphogenesis Source: UniProtKB
- organelle fission Source: GO_Central
- phagocytosis Source: UniProtKB-KW
- positive regulation of apoptotic process Source: UniProtKB
- positive regulation of clathrin-dependent endocytosis Source: Ensembl
- positive regulation of lamellipodium assembly Source: Ensembl
- positive regulation of nitric oxide biosynthetic process Source: Ensembl
- positive regulation of phagocytosis Source: Ensembl
- positive regulation of sodium:potassium-exchanging ATPase activity Source: Ensembl
- positive regulation of substrate adhesion-dependent cell spreading Source: Ensembl
- positive regulation of transcription, DNA-templated Source: UniProtKB
- postsynaptic neurotransmitter receptor internalization Source: GO_Central
- receptor internalization Source: BHF-UCL
- receptor-mediated endocytosis Source: UniProtKB
- regulation of axon extension Source: UniProtKB
- regulation of Golgi organization Source: Ensembl
- regulation of nitric-oxide synthase activity Source: Reactome
- regulation of Rac protein signal transduction Source: Ensembl
- regulation of synapse structure or activity Source: GO_Central
- regulation of transcription, DNA-templated Source: UniProtKB
- response to cocaine Source: Ensembl
- response to light stimulus Source: Ensembl
- signal transduction Source: UniProtKB
- spermatogenesis Source: Ensembl
- synaptic vesicle budding from presynaptic endocytic zone membrane Source: GO_Central
- synaptic vesicle transport Source: UniProtKB
- transferrin transport Source: BHF-UCL
- ventricular septum development Source: Ensembl
Keywordsi
Molecular function | Hydrolase, Motor protein |
Biological process | Endocytosis, Phagocytosis |
Ligand | GTP-binding, Nucleotide-binding |
Enzyme and pathway databases
BRENDAi | 3.6.5.5, 2681 |
PathwayCommonsi | P50570 |
Reactomei | R-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 R-HSA-9031628, NGF-stimulated transcription |
SignaLinki | P50570 |
SIGNORi | P50570 |
Protein family/group databases
MoonDBi | P50570, Curated |
TCDBi | 1.R.1.1.1, the membrane contact site (mcs) family 8.A.34.1.4, the endophilin (endophilin) family |
Names & Taxonomyi
Protein namesi | |
Gene namesi | Name:DNM2 Synonyms:DYN2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:2974, DNM2 |
MIMi | 602378, gene |
neXtProti | NX_P50570 |
VEuPathDBi | HostDB:ENSG00000079805.16 |
Subcellular locationi
Cytoskeleton
Other locations
- Cytoplasm
- Cell junction By similarity
- clathrin-coated pit By similarity
- postsynaptic density
- synapse
- Midbody
- phagocytic cup By similarity
- phagosome membrane By similarity; Peripheral membrane protein By similarity
Note: Colocalizes with CTTN at the basis of filopodia in hippocampus neuron growth zones (By similarity). Microtubule-associated. Also found in the postsynaptic density of neuronal cells. Co-localizes with PIK3C3 and RAB5A to the nascent phagosome (By similarity).By similarity
Cytoskeleton
- centrosome Source: Ensembl
- microtubule Source: UniProtKB
- microtubule cytoskeleton Source: GO_Central
Cytosol
- cytosol Source: UniProtKB
Endosome
- endosome Source: Ensembl
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Golgi apparatus
- Golgi apparatus Source: HPA
- Golgi membrane Source: Reactome
- trans-Golgi network Source: Ensembl
Mitochondrion
- mitochondrial membrane Source: GO_Central
Nucleus
- nucleus Source: Ensembl
Plasma Membrane
- clathrin-coated pit Source: UniProtKB
- phagocytic cup Source: UniProtKB-SubCell
- plasma membrane Source: GO_Central
- postsynaptic endocytic zone membrane Source: GO_Central
- postsynaptic membrane Source: UniProtKB
- ruffle membrane Source: Ensembl
Other locations
- axon Source: GO_Central
- clathrin-coated endocytic vesicle Source: Ensembl
- cytoplasm Source: GO_Central
- cytoplasmic vesicle Source: GO_Central
- dendritic spine Source: GO_Central
- dendritic spine head Source: GO_Central
- endocytic vesicle membrane Source: Reactome
- focal adhesion Source: UniProtKB
- glutamatergic synapse Source: Ensembl
- growth cone Source: Ensembl
- lamellipodium Source: Ensembl
- membrane Source: GO_Central
- midbody Source: UniProtKB-SubCell
- perinuclear region of cytoplasm Source: Ensembl
- phagocytic vesicle membrane Source: UniProtKB-SubCell
- photoreceptor inner segment Source: Ensembl
- postsynaptic density Source: GO_Central
- postsynaptic density, intracellular component Source: Ensembl
- presynapse Source: GOC
- protein-containing complex Source: Ensembl
- synapse Source: GO_Central
Keywords - Cellular componenti
Cell junction, Cell projection, Coated pit, Cytoplasm, Cytoplasmic vesicle, Cytoskeleton, Membrane, Microtubule, SynapsePathology & Biotechi
Involvement in diseasei
Myopathy, centronuclear, 1 (CNM1)9 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_031962 | 368 | E → K in CNM1. 2 PublicationsCorresponds to variant dbSNP:rs121909092EnsemblClinVar. | 1 | |
Natural variantiVAR_068365 | 368 | E → Q in CNM1. 1 Publication | 1 | |
Natural variantiVAR_031963 | 369 | R → Q in CNM1. 1 PublicationCorresponds to variant dbSNP:rs121909089EnsemblClinVar. | 1 | |
Natural variantiVAR_031964 | 369 | R → W in CNM1; reduced association with the centrosome. 1 PublicationCorresponds to variant dbSNP:rs121909090EnsemblClinVar. | 1 | |
Natural variantiVAR_031965 | 465 | R → 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_068366 | 522 | R → C in CNM1. 1 Publication | 1 | |
Natural variantiVAR_068367 | 522 | R → H in CNM1. 1 PublicationCorresponds to variant dbSNP:rs587783595EnsemblClinVar. | 1 | |
Natural variantiVAR_068368 | 523 | R → G in CNM1. 1 PublicationCorresponds to variant dbSNP:rs587783596EnsemblClinVar. | 1 | |
Natural variantiVAR_068369 | 560 | E → K in CNM1. 1 PublicationCorresponds to variant dbSNP:rs879254086EnsemblClinVar. | 1 | |
Natural variantiVAR_068370 | 618 | A → D in CNM1. 1 PublicationCorresponds to variant dbSNP:rs1555715869EnsemblClinVar. | 1 | |
Natural variantiVAR_039041 | 618 | A → T in CNM1; severe. 2 PublicationsCorresponds to variant dbSNP:rs773598203EnsemblClinVar. | 1 | |
Natural variantiVAR_039042 | 619 | S → L in CNM1; severe. 2 PublicationsCorresponds to variant dbSNP:rs121909095EnsemblClinVar. | 1 | |
Natural variantiVAR_039043 | 619 | S → W in CNM1; severe. 1 PublicationCorresponds to variant dbSNP:rs121909095EnsemblClinVar. | 1 | |
Natural variantiVAR_068371 | 621 | L → P in CNM1; centronuclear myopathy with cataracts. 1 PublicationCorresponds to variant dbSNP:rs587783597EnsemblClinVar. | 1 | |
Natural variantiVAR_039044 | 625 | Missing in CNM1; severe; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. 2 Publications | 1 | |
Natural variantiVAR_068372 | 627 | P → H in CNM1. 1 Publication | 1 | |
Natural variantiVAR_068373 | 627 | P → R in CNM1. 1 PublicationCorresponds to variant dbSNP:rs587783598EnsemblClinVar. | 1 | |
Natural variantiVAR_062576 | 650 | E → K in CNM1; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. 1 Publication | 1 |
Lethal congenital contracture syndrome 5 (LCCS5)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070163 | 379 | F → 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
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_031966 | 555 – 557 | Missing in CMTDIB; may affect binding to vesicles and membranes in favor of binding to microtubules; may affect receptor-mediated endocytosis. 1 Publication | 3 | |
Natural variantiVAR_031967 | 562 | K → E in CMTDIB; with neutropenia; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. 2 PublicationsCorresponds to variant dbSNP:rs121909088Ensembl. | 1 | |
Natural variantiVAR_070164 | 562 | Missing in CMTDIB. 1 Publication | 1 |
Charcot-Marie-Tooth disease 2M (CMT2M)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_068425 | 358 | G → R in CMT2M. 1 PublicationCorresponds to variant dbSNP:rs267606772EnsemblClinVar. | 1 | |
Natural variantiVAR_062574 | 537 | G → C in CMT2M. 1 PublicationCorresponds to variant dbSNP:rs121909093Ensembl. | 1 | |
Natural variantiVAR_062575 | 570 | L → H in CMT2M. 1 PublicationCorresponds to variant dbSNP:rs121909094Ensembl. | 1 |
Keywords - Diseasei
Charcot-Marie-Tooth disease, Disease variant, Neurodegeneration, NeuropathyOrganism-specific databases
DisGeNETi | 1785 |
GeneReviewsi | DNM2 |
MalaCardsi | DNM2 |
MIMi | 160150, phenotype 606482, phenotype 615368, phenotype |
OpenTargetsi | ENSG00000079805 |
Orphaneti | 169189, 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 |
PharmGKBi | PA27442 |
Miscellaneous databases
Pharosi | P50570, Tchem |
Chemistry databases
ChEMBLi | CHEMBL5812 |
Genetic variation databases
BioMutai | DNM2 |
DMDMi | 47117856 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000206570 | 1 – 870 | Dynamin-2Add BLAST | 870 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 231 | PhosphotyrosineBy similarity | 1 | |
Modified residuei | 299 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 597 | PhosphotyrosineBy similarity | 1 | |
Modified residuei | 598 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 755 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 764 | Phosphoserine; by CDK1By similarity | 1 |
Post-translational modificationi
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | P50570 |
jPOSTi | P50570 |
MassIVEi | P50570 |
MaxQBi | P50570 |
PaxDbi | P50570 |
PeptideAtlasi | P50570 |
PRIDEi | P50570 |
ProteomicsDBi | 1845 19939 56250 [P50570-1] 56251 [P50570-2] |
PTM databases
iPTMneti | P50570 |
MetOSitei | P50570 |
PhosphoSitePlusi | P50570 |
SwissPalmi | P50570 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000079805, Expressed in cortex of kidney and 198 other tissues |
ExpressionAtlasi | P50570, baseline and differential |
Genevisiblei | P50570, HS |
Organism-specific databases
HPAi | ENSG00000079805, Low tissue specificity |
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).
Interacts with BIN1 (PubMed:17676042).
By similarity9 PublicationsBinary interactionsi
P50570
Isoform 2 [P50570-2]
GO - Molecular functioni
- D2 dopamine receptor binding Source: Ensembl
- enzyme binding Source: UniProtKB
- microtubule binding Source: GO_Central
- nitric-oxide synthase binding Source: Ensembl
- phosphatidylinositol 3-kinase regulatory subunit binding Source: Ensembl
- protein kinase binding Source: Ensembl
- SH3 domain binding Source: UniProtKB
- WW domain binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 108122, 166 interactors |
CORUMi | P50570 |
DIPi | DIP-31244N |
ELMi | P50570 |
IntActi | P50570, 237 interactors |
MINTi | P50570 |
STRINGi | 9606.ENSP00000373905 |
Chemistry databases
BindingDBi | P50570 |
Miscellaneous databases
RNActi | P50570, protein |
Structurei
Secondary structure
3D structure databases
BMRBi | P50570 |
SMRi | P50570 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P50570 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 28 – 294 | Dynamin-type GPROSITE-ProRule annotationAdd BLAST | 267 | |
Domaini | 519 – 625 | PHPROSITE-ProRule annotationAdd BLAST | 107 | |
Domaini | 653 – 744 | GEDPROSITE-ProRule annotationAdd BLAST | 92 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 38 – 45 | G1 motifPROSITE-ProRule annotation | 8 | |
Regioni | 64 – 66 | G2 motifPROSITE-ProRule annotation | 3 | |
Regioni | 136 – 139 | G3 motifPROSITE-ProRule annotation | 4 | |
Regioni | 205 – 208 | G4 motifPROSITE-ProRule annotation | 4 | |
Regioni | 235 – 238 | G5 motifPROSITE-ProRule annotation | 4 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 747 – 866 | Pro-richAdd BLAST | 120 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG0446, Eukaryota |
GeneTreei | ENSGT00940000155764 |
HOGENOMi | CLU_008964_1_1_1 |
InParanoidi | P50570 |
OMAi | ANRYIPE |
OrthoDBi | 264244at2759 |
PhylomeDBi | P50570 |
TreeFami | TF300362 |
Family and domain databases
CDDi | cd08771, DLP_1, 1 hit |
Gene3Di | 2.30.29.30, 1 hit |
InterProi | View protein in InterPro IPR027188, DNM2 IPR001401, Dynamin_GTPase IPR019762, Dynamin_GTPase_CS IPR022812, Dynamin_SF IPR000375, Dynamin_stalk IPR030381, G_DYNAMIN_dom IPR003130, GED IPR020850, GED_dom IPR027417, P-loop_NTPase IPR011993, PH-like_dom_sf IPR001849, PH_domain |
PANTHERi | PTHR11566, PTHR11566, 1 hit PTHR11566:SF23, PTHR11566:SF23, 1 hit |
Pfami | View protein in Pfam PF01031, Dynamin_M, 1 hit PF00350, Dynamin_N, 1 hit PF02212, GED, 1 hit PF00169, PH, 1 hit |
PRINTSi | PR00195, DYNAMIN |
SMARTi | View protein in SMART SM00053, DYNc, 1 hit SM00302, GED, 1 hit SM00233, PH, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS00410, G_DYNAMIN_1, 1 hit PS51718, G_DYNAMIN_2, 1 hit PS51388, GED, 1 hit PS50003, PH_DOMAIN, 1 hit |
s (5+)i Sequence
Sequence statusi: Complete.
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 5 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketK7ENE7 | K7ENE7_HUMAN | Dynamin-2 | DNM2 | 137 | Annotation score: | ||
K7EMQ3 | K7EMQ3_HUMAN | Dynamin-2 | DNM2 | 289 | Annotation score: | ||
K7EPK9 | K7EPK9_HUMAN | Dynamin-2 | DNM2 | 50 | Annotation score: | ||
K7EMR9 | K7EMR9_HUMAN | Dynamin-2 | DNM2 | 169 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 155 – 156 | QI → RV in AAA88025 (PubMed:7590285).Curated | 2 | |
Sequence conflicti | 207 | L → P in AK312260 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 316 | N → I in AAA88025 (PubMed:7590285).Curated | 1 | |
Sequence conflicti | 324 | R → P in AAA88025 (PubMed:7590285).Curated | 1 | |
Sequence conflicti | 475 | I → T in AK312260 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_031961 | 263 | P → L. Corresponds to variant dbSNP:rs3745674EnsemblClinVar. | 1 | |
Natural variantiVAR_068425 | 358 | G → R in CMT2M. 1 PublicationCorresponds to variant dbSNP:rs267606772EnsemblClinVar. | 1 | |
Natural variantiVAR_031962 | 368 | E → K in CNM1. 2 PublicationsCorresponds to variant dbSNP:rs121909092EnsemblClinVar. | 1 | |
Natural variantiVAR_068365 | 368 | E → Q in CNM1. 1 Publication | 1 | |
Natural variantiVAR_031963 | 369 | R → Q in CNM1. 1 PublicationCorresponds to variant dbSNP:rs121909089EnsemblClinVar. | 1 | |
Natural variantiVAR_031964 | 369 | R → W in CNM1; reduced association with the centrosome. 1 PublicationCorresponds to variant dbSNP:rs121909090EnsemblClinVar. | 1 | |
Natural variantiVAR_070163 | 379 | F → V in LCCS5; hypomorphic mutation impacting on endocytosis. 1 PublicationCorresponds to variant dbSNP:rs397514735EnsemblClinVar. | 1 | |
Natural variantiVAR_031965 | 465 | R → 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_068366 | 522 | R → C in CNM1. 1 Publication | 1 | |
Natural variantiVAR_068367 | 522 | R → H in CNM1. 1 PublicationCorresponds to variant dbSNP:rs587783595EnsemblClinVar. | 1 | |
Natural variantiVAR_068368 | 523 | R → G in CNM1. 1 PublicationCorresponds to variant dbSNP:rs587783596EnsemblClinVar. | 1 | |
Natural variantiVAR_062574 | 537 | G → C in CMT2M. 1 PublicationCorresponds to variant dbSNP:rs121909093Ensembl. | 1 | |
Natural variantiVAR_031966 | 555 – 557 | Missing in CMTDIB; may affect binding to vesicles and membranes in favor of binding to microtubules; may affect receptor-mediated endocytosis. 1 Publication | 3 | |
Natural variantiVAR_068369 | 560 | E → K in CNM1. 1 PublicationCorresponds to variant dbSNP:rs879254086EnsemblClinVar. | 1 | |
Natural variantiVAR_031967 | 562 | K → E in CMTDIB; with neutropenia; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. 2 PublicationsCorresponds to variant dbSNP:rs121909088Ensembl. | 1 | |
Natural variantiVAR_070164 | 562 | Missing in CMTDIB. 1 Publication | 1 | |
Natural variantiVAR_062575 | 570 | L → H in CMT2M. 1 PublicationCorresponds to variant dbSNP:rs121909094Ensembl. | 1 | |
Natural variantiVAR_068370 | 618 | A → D in CNM1. 1 PublicationCorresponds to variant dbSNP:rs1555715869EnsemblClinVar. | 1 | |
Natural variantiVAR_039041 | 618 | A → T in CNM1; severe. 2 PublicationsCorresponds to variant dbSNP:rs773598203EnsemblClinVar. | 1 | |
Natural variantiVAR_039042 | 619 | S → L in CNM1; severe. 2 PublicationsCorresponds to variant dbSNP:rs121909095EnsemblClinVar. | 1 | |
Natural variantiVAR_039043 | 619 | S → W in CNM1; severe. 1 PublicationCorresponds to variant dbSNP:rs121909095EnsemblClinVar. | 1 | |
Natural variantiVAR_068371 | 621 | L → P in CNM1; centronuclear myopathy with cataracts. 1 PublicationCorresponds to variant dbSNP:rs587783597EnsemblClinVar. | 1 | |
Natural variantiVAR_039044 | 625 | Missing in CNM1; severe; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. 2 Publications | 1 | |
Natural variantiVAR_068372 | 627 | P → H in CNM1. 1 Publication | 1 | |
Natural variantiVAR_068373 | 627 | P → R in CNM1. 1 PublicationCorresponds to variant dbSNP:rs587783598EnsemblClinVar. | 1 | |
Natural variantiVAR_062576 | 650 | E → K in CNM1; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_044280 | 407 – 444 | LAFEA…RQCTS → MAFEAIVKKQIVKLKEPSLK CVDLVVSELATVIKKCAE in isoform 3 and isoform 4. 1 PublicationAdd BLAST | 38 | |
Alternative sequenceiVSP_001325 | 516 – 519 | Missing in isoform 2 and isoform 3. 3 Publications | 4 | |
Alternative sequenceiVSP_047534 | 848 | Missing in isoform 5. 1 Publication | 1 |
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 |
CCDSi | CCDS32907.1 [P50570-2] CCDS32908.1 [P50570-3] CCDS45968.1 [P50570-1] CCDS45969.1 [P50570-4] CCDS59351.1 [P50570-5] |
PIRi | JC4305 |
RefSeqi | NP_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] |
Genome annotation databases
Ensembli | ENST00000355667; ENSP00000347890; ENSG00000079805 [P50570-1] ENST00000359692; ENSP00000352721; ENSG00000079805 [P50570-2] ENST00000389253; ENSP00000373905; ENSG00000079805 [P50570-4] ENST00000408974; ENSP00000386192; ENSG00000079805 [P50570-3] ENST00000585892; ENSP00000468734; ENSG00000079805 [P50570-5] |
GeneIDi | 1785 |
KEGGi | hsa:1785 |
UCSCi | uc002mps.3, human [P50570-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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 |
CCDSi | CCDS32907.1 [P50570-2] CCDS32908.1 [P50570-3] CCDS45968.1 [P50570-1] CCDS45969.1 [P50570-4] CCDS59351.1 [P50570-5] |
PIRi | JC4305 |
RefSeqi | NP_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] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2YS1 | NMR | - | A | 520-625 | [»] | |
BMRBi | P50570 | |||||
SMRi | P50570 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 108122, 166 interactors |
CORUMi | P50570 |
DIPi | DIP-31244N |
ELMi | P50570 |
IntActi | P50570, 237 interactors |
MINTi | P50570 |
STRINGi | 9606.ENSP00000373905 |
Chemistry databases
BindingDBi | P50570 |
ChEMBLi | CHEMBL5812 |
Protein family/group databases
MoonDBi | P50570, Curated |
TCDBi | 1.R.1.1.1, the membrane contact site (mcs) family 8.A.34.1.4, the endophilin (endophilin) family |
PTM databases
iPTMneti | P50570 |
MetOSitei | P50570 |
PhosphoSitePlusi | P50570 |
SwissPalmi | P50570 |
Genetic variation databases
BioMutai | DNM2 |
DMDMi | 47117856 |
Proteomic databases
EPDi | P50570 |
jPOSTi | P50570 |
MassIVEi | P50570 |
MaxQBi | P50570 |
PaxDbi | P50570 |
PeptideAtlasi | P50570 |
PRIDEi | P50570 |
ProteomicsDBi | 1845 19939 56250 [P50570-1] 56251 [P50570-2] |
Protocols and materials databases
Antibodypediai | 25505, 225 antibodies |
Genome annotation databases
Ensembli | ENST00000355667; ENSP00000347890; ENSG00000079805 [P50570-1] ENST00000359692; ENSP00000352721; ENSG00000079805 [P50570-2] ENST00000389253; ENSP00000373905; ENSG00000079805 [P50570-4] ENST00000408974; ENSP00000386192; ENSG00000079805 [P50570-3] ENST00000585892; ENSP00000468734; ENSG00000079805 [P50570-5] |
GeneIDi | 1785 |
KEGGi | hsa:1785 |
UCSCi | uc002mps.3, human [P50570-1] |
Organism-specific databases
CTDi | 1785 |
DisGeNETi | 1785 |
GeneCardsi | DNM2 |
GeneReviewsi | DNM2 |
HGNCi | HGNC:2974, DNM2 |
HPAi | ENSG00000079805, Low tissue specificity |
MalaCardsi | DNM2 |
MIMi | 160150, phenotype 602378, gene 606482, phenotype 615368, phenotype |
neXtProti | NX_P50570 |
OpenTargetsi | ENSG00000079805 |
Orphaneti | 169189, 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 |
PharmGKBi | PA27442 |
VEuPathDBi | HostDB:ENSG00000079805.16 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0446, Eukaryota |
GeneTreei | ENSGT00940000155764 |
HOGENOMi | CLU_008964_1_1_1 |
InParanoidi | P50570 |
OMAi | ANRYIPE |
OrthoDBi | 264244at2759 |
PhylomeDBi | P50570 |
TreeFami | TF300362 |
Enzyme and pathway databases
BRENDAi | 3.6.5.5, 2681 |
PathwayCommonsi | P50570 |
Reactomei | R-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 R-HSA-9031628, NGF-stimulated transcription |
SignaLinki | P50570 |
SIGNORi | P50570 |
Miscellaneous databases
BioGRID-ORCSi | 1785, 668 hits in 888 CRISPR screens |
ChiTaRSi | DNM2, human |
EvolutionaryTracei | P50570 |
GeneWikii | DNM2 |
GenomeRNAii | 1785 |
Pharosi | P50570, Tchem |
PROi | PR:P50570 |
RNActi | P50570, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000079805, Expressed in cortex of kidney and 198 other tissues |
ExpressionAtlasi | P50570, baseline and differential |
Genevisiblei | P50570, HS |
Family and domain databases
CDDi | cd08771, DLP_1, 1 hit |
Gene3Di | 2.30.29.30, 1 hit |
InterProi | View protein in InterPro IPR027188, DNM2 IPR001401, Dynamin_GTPase IPR019762, Dynamin_GTPase_CS IPR022812, Dynamin_SF IPR000375, Dynamin_stalk IPR030381, G_DYNAMIN_dom IPR003130, GED IPR020850, GED_dom IPR027417, P-loop_NTPase IPR011993, PH-like_dom_sf IPR001849, PH_domain |
PANTHERi | PTHR11566, PTHR11566, 1 hit PTHR11566:SF23, PTHR11566:SF23, 1 hit |
Pfami | View protein in Pfam PF01031, Dynamin_M, 1 hit PF00350, Dynamin_N, 1 hit PF02212, GED, 1 hit PF00169, PH, 1 hit |
PRINTSi | PR00195, DYNAMIN |
SMARTi | View protein in SMART SM00053, DYNc, 1 hit SM00302, GED, 1 hit SM00233, PH, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS00410, G_DYNAMIN_1, 1 hit PS51718, G_DYNAMIN_2, 1 hit PS51388, GED, 1 hit PS50003, PH_DOMAIN, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DYN2_HUMAN | |
Accessioni | P50570Primary (citable) accession number: P50570 Secondary accession number(s): A8K1B6 Q9UPH4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1996 |
Last sequence update: | May 10, 2004 | |
Last modified: | February 10, 2021 | |
This is version 217 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants