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UniProtKB - P50570 (DYN2_HUMAN)

Entry version 217 (10 Feb 2021)
Sequence version 2 (10 May 2004)
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Protein

Dynamin-2

Gene

DNM2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi38 – 46GTPBy similarity9
Nucleotide bindingi205 – 211GTPBy similarity7
Nucleotide bindingi236 – 239GTPBy similarity4

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		3.6.5.5, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P50570

Reactome - a knowledgebase of biological pathways and processes

More...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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P50570

SIGNOR Signaling Network Open Resource

More...SIGNORi		P50570

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

More...MoonDBi		P50570, Curated

Transport Classification Database

More...TCDBi		1.R.1.1.1, the membrane contact site (mcs) family
8.A.34.1.4, the endophilin (endophilin) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Dynamin-2 (EC:3.6.5.5)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DNM2
Synonyms:DYN2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:2974, DNM2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		602378, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P50570

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000079805.16

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Myopathy, centronuclear, 1 (CNM1)9 Publications
The disease is caused by variants 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs1555715869EnsemblClinVar.1
Natural variantiVAR_039041618A → T in CNM1; severe. 2 PublicationsCorresponds to variant dbSNP:rs773598203EnsemblClinVar.1
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 variants 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.
Related information in OMIM
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 variants 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.
Related information in OMIM
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:rs121909088Ensembl.1
Natural variantiVAR_070164562Missing in CMTDIB. 1 Publication1
Charcot-Marie-Tooth disease 2M (CMT2M)2 Publications
The disease is caused by variants 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.
Related information in OMIM
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:rs121909093Ensembl.1
Natural variantiVAR_062575570L → H in CMT2M. 1 PublicationCorresponds to variant dbSNP:rs121909094Ensembl.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNET

More...DisGeNETi		1785

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		DNM2

MalaCards human disease database

More...MalaCardsi		DNM2
MIMi160150, phenotype
606482, phenotype
615368, phenotype

Open Targets

More...OpenTargetsi		ENSG00000079805

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...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

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27442

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P50570, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL5812

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		DNM2

Domain mapping of disease mutations (DMDM)

More...DMDMi		47117856

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002065701 – 870Dynamin-2Add BLAST870

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei231PhosphotyrosineBy similarity1
Modified residuei299N6-acetyllysineBy similarity1
Modified residuei597PhosphotyrosineBy similarity1
Modified residuei598N6-acetyllysineCombined sources1
Modified residuei755PhosphothreonineCombined sources1
Modified residuei764Phosphoserine; by CDK1By similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

More...EPDi		P50570

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P50570

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P50570

MaxQB - The MaxQuant DataBase

More...MaxQBi		P50570

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P50570

PeptideAtlas

More...PeptideAtlasi		P50570

PRoteomics IDEntifications database

More...PRIDEi		P50570

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		1845
19939
56250 [P50570-1]
56251 [P50570-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P50570

MetOSite database of methionine sulfoxide sites

More...MetOSitei		P50570

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P50570

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P50570

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitously expressed.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000079805, Expressed in cortex of kidney and 198 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P50570, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P50570, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000079805, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

P50570
With#Exp.IntAct
AHI1 [Q8N157]2EBI-346547,EBI-1049056
BAG3 [O95817]3EBI-346547,EBI-747185
CTTN [Q14247]5EBI-346547,EBI-351886
FLAD1 - isoform 2 [Q8NFF5-2]3EBI-346547,EBI-11526128
GRB2 [P62993]8EBI-346547,EBI-401755
ITSN1 [Q15811]2EBI-346547,EBI-602041
MYO1E [Q12965]2EBI-346547,EBI-4279548
NME2 [P22392]2EBI-346547,EBI-713693
PACSIN2 [Q9UNF0]4EBI-346547,EBI-742503
PRKAA2 [P54646]3EBI-346547,EBI-1383852
QARS1 [P47897]3EBI-346547,EBI-347462
RNF8 [O76064]3EBI-346547,EBI-373337
SDCBP [O00560]3EBI-346547,EBI-727004
SEC23A [Q15436]3EBI-346547,EBI-81088
SH3BP4 [Q9P0V3]3EBI-346547,EBI-1049513
SH3GL2 [Q99962]2EBI-346547,EBI-77938
SH3KBP1 [Q96B97]5EBI-346547,EBI-346595
SNX9 [Q9Y5X1]4EBI-346547,EBI-77848
TRAF4 [Q9BUZ4]3EBI-346547,EBI-3650647
UBASH3A - isoform 2 [P57075-2]3EBI-346547,EBI-7353612
nef [Q9QPN3] from Human immunodeficiency virus type 1 group M subtype B (isolate Lai).4EBI-346547,EBI-7355146
Isoform 2 [P50570-2]
With#Exp.IntAct
AAMDC [Q9H7C9]3EBI-10968534,EBI-10308705
ABHD17C [Q6PCB6]3EBI-10968534,EBI-22011868
ARFGAP3 [Q9NP61]3EBI-10968534,EBI-2875816
ARNT2 [Q86TN1]3EBI-10968534,EBI-25844820
ASB6 - isoform 2 [Q9NWX5-2]3EBI-10968534,EBI-25838672
ASIC4 - isoform 3 [Q96FT7-4]3EBI-10968534,EBI-9089489
ATL1 [Q8WXF7]3EBI-10968534,EBI-2410266
ATP5IF1 [Q9UII2]3EBI-10968534,EBI-718459
ATXN3 [P54252]3EBI-10968534,EBI-946046
BAIAP2 - isoform 6 [Q9UQB8-6]3EBI-10968534,EBI-9092016
BOK [Q9UMX3]3EBI-10968534,EBI-7105206
BRK1 [Q8WUW1]3EBI-10968534,EBI-2837444
CBWD3 [Q5JTY5]3EBI-10968534,EBI-723434
CBX1 [P83916]3EBI-10968534,EBI-78129
CEP55 [Q53EZ4]3EBI-10968534,EBI-747776
CHMP6 [Q96FZ7]3EBI-10968534,EBI-1049648
CISH [Q9NSE2]3EBI-10968534,EBI-617866
CLEC2B [Q92478]3EBI-10968534,EBI-13350535
CLPP [Q16740]3EBI-10968534,EBI-1056029
CSF2 [P04141]3EBI-10968534,EBI-1809826
DAZ3 - isoform 2 [Q9NR90-2]3EBI-10968534,EBI-25830216
DCLRE1B [Q9H816]3EBI-10968534,EBI-3508943
DDX20 [Q9UHI6]3EBI-10968534,EBI-347658
DELE1 [Q14154]3EBI-10968534,EBI-2805660
DNTTIP1 [Q9H147]3EBI-10968534,EBI-2795449
EVL - isoform 1 [Q9UI08-2]3EBI-10968534,EBI-6448852
EYA3 [Q99504]3EBI-10968534,EBI-9089567
FAM111B [Q6SJ93]3EBI-10968534,EBI-6309082
FBXL4 [Q9UKA2]3EBI-10968534,EBI-2869903
FBXO42 [Q6P3S6]3EBI-10968534,EBI-2506081
FEZ2 [Q9UHY8]3EBI-10968534,EBI-396453
FOXA2 - isoform 2 [Q9Y261-2]3EBI-10968534,EBI-25830360
FOXR1 [Q6PIV2]3EBI-10968534,EBI-10253815
FTL [P02792]3EBI-10968534,EBI-713279
FYN - isoform 3 [P06241-3]3EBI-10968534,EBI-10691738
FZD4 [Q9ULV1]3EBI-10968534,EBI-2466380
GOLPH3L [Q9H4A5]3EBI-10968534,EBI-4403434
GRAP [Q13588]3EBI-10968534,EBI-2847510
H2AZ1 [P0C0S5]3EBI-10968534,EBI-1199859
H3C12 [P68431]3EBI-10968534,EBI-79722
HK3 [P52790]3EBI-10968534,EBI-2965780
HNRNPLL - isoform 3 [Q8WVV9-3]3EBI-10968534,EBI-25845242
HOXC4 [P09017]3EBI-10968534,EBI-3923226
HTT [P42858]6EBI-10968534,EBI-466029
IQSEC1 - isoform 2 [Q6DN90-2]3EBI-10968534,EBI-21911304
IQUB [Q8NA54]3EBI-10968534,EBI-10220600
KAT5 [Q92993]3EBI-10968534,EBI-399080
KAT5 - isoform 1 [Q92993-2]3EBI-10968534,EBI-20795332
KIAA0355 [A1A512]3EBI-10968534,EBI-25844799
KRTAP13-3 [Q3SY46]3EBI-10968534,EBI-10241252
KRTAP19-1 [Q8IUB9]3EBI-10968534,EBI-12811111
KRTAP19-5 [Q3LI72]3EBI-10968534,EBI-1048945
KRTAP19-7 [Q3SYF9]3EBI-10968534,EBI-10241353
KRTAP8-1 [Q8IUC2]3EBI-10968534,EBI-10261141
LGALS9C [Q6DKI2]3EBI-10968534,EBI-9088829
LOC401296 [A2RU56]3EBI-10968534,EBI-9088215
LOC730441 [Q4G0S1]3EBI-10968534,EBI-10241801
LYN [P07948]3EBI-10968534,EBI-79452
MAD2L2 [Q9UI95]3EBI-10968534,EBI-77889
MALT1 - isoform 2 [Q9UDY8-2]3EBI-10968534,EBI-12056869
MAP3K5 [Q99683]3EBI-10968534,EBI-476263
MAPK11 [Q15759]3EBI-10968534,EBI-298304
MGARP [Q8TDB4]3EBI-10968534,EBI-4397720
MNDA [P41218]3EBI-10968534,EBI-2829677
MRFAP1 [Q9Y605]3EBI-10968534,EBI-995714
MSH5 - isoform 2 [O43196-2]3EBI-10968534,EBI-25844576
NAP1L3 [Q99457]3EBI-10968534,EBI-8645631
NEBL [O76041]3EBI-10968534,EBI-2880203
NR0B2 [Q15466]3EBI-10968534,EBI-3910729
NXT2 - isoform 3 [Q9NPJ8-3]3EBI-10968534,EBI-10698339
OCLN [Q16625]3EBI-10968534,EBI-2903088
OPTN - isoform 2 [Q96CV9-2]3EBI-10968534,EBI-9091423
OTUB1 [Q96FW1]3EBI-10968534,EBI-1058491
P4HA2 - isoform IIa [O15460-2]3EBI-10968534,EBI-10182841
PARK7 [Q99497]3EBI-10968534,EBI-1164361
PDZK1IP1 [Q13113]3EBI-10968534,EBI-716063
PHOX2A [O14813]3EBI-10968534,EBI-25844430
PIK3R1 - isoform 2 [P27986-2]3EBI-10968534,EBI-9090282
PIP [P12273]3EBI-10968534,EBI-1049746
PIWIL1 [Q96J94]3EBI-10968534,EBI-527417
PRDM1 - isoform 3 [O75626-3]3EBI-10968534,EBI-25829882
RAB35 [Q15286]3EBI-10968534,EBI-722275
RAB38 [P57729]3EBI-10968534,EBI-6552718
RAB3IP - isoform 7 [Q96QF0-7]3EBI-10968534,EBI-11984839
RASSF1 - isoform C [Q9NS23-4]3EBI-10968534,EBI-438710
REXO4 [Q9GZR2]3EBI-10968534,EBI-2856313
RNF183 [Q96D59]3EBI-10968534,EBI-743938
SCAPER - isoform 3 [Q9BY12-3]3EBI-10968534,EBI-25837959
SGSM1 - isoform 3 [Q2NKQ1-4]3EBI-10968534,EBI-10182463
SLC52A3 [Q9NQ40]3EBI-10968534,EBI-25845274
SMARCB1 [Q12824]3EBI-10968534,EBI-358419
SMARCB1 - isoform B [Q12824-2]3EBI-10968534,EBI-358436
SMN2 - isoform SMN-delta7 [Q16637-3]3EBI-10968534,EBI-395447
SNX2 [O60749]3EBI-10968534,EBI-1046690
SNX33 [Q8WV41]3EBI-10968534,EBI-2481535
SPACA3 [Q05C28]3EBI-10968534,EBI-25845337
SPATA12 [Q7Z6I5]3EBI-10968534,EBI-10696971
SPRED2 [Q7Z698]3EBI-10968534,EBI-7082156
STX11 [O75558]3EBI-10968534,EBI-714135
STX19 [Q8N4C7]3EBI-10968534,EBI-8484990
TAGLN2 [P37802]3EBI-10968534,EBI-1056740
TDP2 [O95551]3EBI-10968534,EBI-2819865
TEAD1 - isoform 2 [P28347-2]3EBI-10968534,EBI-12151837
TEF [Q10587]3EBI-10968534,EBI-2796967
TFF2 [Q03403]3EBI-10968534,EBI-4314702
TGM2 - isoform 2 [P21980-2]3EBI-10968534,EBI-25842075
TIGD5 - isoform 2 [Q53EQ6-2]3EBI-10968534,EBI-10242213
TP53BP1 [Q12888]3EBI-10968534,EBI-396540
TRAF4 [Q9BUZ4]3EBI-10968534,EBI-3650647
TRNAU1AP - isoform 2 [Q9NX07-2]3EBI-10968534,EBI-21894090
TTC23 - isoform 3 [Q5W5X9-3]3EBI-10968534,EBI-9090990
TXN [P10599]3EBI-10968534,EBI-594644
VSX2 [P58304]3EBI-10968534,EBI-6427899
WWP2 [O00308]3EBI-10968534,EBI-743923
ZBTB38 [Q8NAP3]3EBI-10968534,EBI-5235984
ZDHHC17 [Q8IUH5]3EBI-10968534,EBI-524753
ZNF248 [Q05CR2]3EBI-10968534,EBI-25835471
ZNF366 [Q8N895]3EBI-10968534,EBI-2813661
ZNF638 - isoform 2 [Q14966-2]3EBI-10968534,EBI-25845021
ZNF697 [Q5TEC3]3EBI-10968534,EBI-25845217
B7Z3E83EBI-10968534,EBI-25831617
Ppif [Q99KR7] from Mus musculus.3EBI-10968534,EBI-6455001

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		108122, 166 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P50570

Database of interacting proteins

More...DIPi		DIP-31244N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		P50570

Protein interaction database and analysis system

More...IntActi		P50570, 237 interactors

Molecular INTeraction database

More...MINTi		P50570

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000373905

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P50570

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P50570, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

Biological Magnetic Resonance Data Bank

More...BMRBi		P50570

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P50570

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P50570

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini28 – 294Dynamin-type GPROSITE-ProRule annotationAdd BLAST267
Domaini519 – 625PHPROSITE-ProRule annotationAdd BLAST107
Domaini653 – 744GEDPROSITE-ProRule annotationAdd BLAST92

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>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
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi747 – 866Pro-richAdd BLAST120

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0446, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155764

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_008964_1_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P50570

Identification of Orthologs from Complete Genome Data

More...OMAi		ANRYIPE

Database of Orthologous Groups

More...OrthoDBi		264244at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P50570

TreeFam database of animal gene trees

More...TreeFami		TF300362

Family and domain databases

Conserved Domains Database

More...CDDi		cd08771, DLP_1, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

More...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

The PANTHER Classification System

More...PANTHERi		PTHR11566, PTHR11566, 1 hit
PTHR11566:SF23, PTHR11566:SF23, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01031, Dynamin_M, 1 hit
PF00350, Dynamin_N, 1 hit
PF02212, GED, 1 hit
PF00169, PH, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00195, DYNAMIN

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00053, DYNc, 1 hit
SM00302, GED, 1 hit
SM00233, PH, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52540, SSF52540, 1 hit

PROSITE; a protein domain and family database

More...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

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 5 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

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.

Show »
Length:869
Mass (Da):97,977
Checksum:iC33CD394EC8F1A6E
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EMQ3K7EMQ3_HUMAN
Dynamin-2
DNM2
289Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EPK9K7EPK9_HUMAN
Dynamin-2
DNM2
50Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EMR9K7EMR9_HUMAN
Dynamin-2
DNM2
169Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:rs121909093Ensembl.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:rs121909088Ensembl.1
Natural variantiVAR_070164562Missing in CMTDIB. 1 Publication1
Natural variantiVAR_062575570L → H in CMT2M. 1 PublicationCorresponds to variant dbSNP:rs121909094Ensembl.1
Natural variantiVAR_068370618A → D in CNM1. 1 PublicationCorresponds to variant dbSNP:rs1555715869EnsemblClinVar.1
Natural variantiVAR_039041618A → T in CNM1; severe. 2 PublicationsCorresponds to variant dbSNP:rs773598203EnsemblClinVar.1
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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS32907.1 [P50570-2]
CCDS32908.1 [P50570-3]
CCDS45968.1 [P50570-1]
CCDS45969.1 [P50570-4]
CCDS59351.1 [P50570-5]

Protein sequence database of the Protein Information Resource

More...PIRi		JC4305

NCBI Reference Sequences

More...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

Ensembl eukaryotic genome annotation project

More...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]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1785

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1785

UCSC genome browser

More...UCSCi		uc002mps.3, human [P50570-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YS1NMR-A520-625[»]
BMRBiP50570
SMRiP50570
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi108122, 166 interactors
CORUMiP50570
DIPiDIP-31244N
ELMiP50570
IntActiP50570, 237 interactors
MINTiP50570
STRINGi9606.ENSP00000373905

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
MetOSiteiP50570
PhosphoSitePlusiP50570
SwissPalmiP50570

Genetic variation databases

BioMutaiDNM2
DMDMi47117856

Proteomic databases

EPDiP50570
jPOSTiP50570
MassIVEiP50570
MaxQBiP50570
PaxDbiP50570
PeptideAtlasiP50570
PRIDEiP50570
ProteomicsDBi1845
19939
56250 [P50570-1]
56251 [P50570-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		25505, 225 antibodies

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

Comparative Toxicogenomics Database

More...CTDi		1785
DisGeNETi1785

GeneCards: human genes, protein and diseases

More...GeneCardsi		DNM2
GeneReviewsiDNM2
HGNCiHGNC:2974, DNM2
HPAiENSG00000079805, Low tissue specificity
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
VEuPathDBiHostDB:ENSG00000079805.16

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0446, Eukaryota
GeneTreeiENSGT00940000155764
HOGENOMiCLU_008964_1_1_1
InParanoidiP50570
OMAiANRYIPE
OrthoDBi264244at2759
PhylomeDBiP50570
TreeFamiTF300362

Enzyme and pathway databases

BRENDAi3.6.5.5, 2681
PathwayCommonsiP50570
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
R-HSA-9031628, NGF-stimulated transcription
SignaLinkiP50570
SIGNORiP50570

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		1785, 668 hits in 888 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		DNM2, human
EvolutionaryTraceiP50570

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		DNM2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		1785
PharosiP50570, Tchem

Protein Ontology

More...PROi		PR:P50570
RNActiP50570, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000079805, Expressed in cortex of kidney and 198 other tissues
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
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
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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDYN2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P50570
Secondary accession number(s): A8K1B6
, E7EV30, E9PEQ4, K7ESI9, Q5I0Y0, Q7Z5S3, Q9UPH4
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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