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Protein

Dynamin-2

Gene

DNM2

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

Functioni

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

Miscellaneous

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

Catalytic activityi

GTP + H2O = GDP + phosphate.

Regions

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

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

Enzyme and pathway databases

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

Protein family/group databases

MoonDBiP50570 Curated
TCDBi8.A.34.1.4 the endophilin (endophilin) family

Names & Taxonomyi

Protein namesi
Recommended name:
Dynamin-2 (EC:3.6.5.5)
Gene namesi
Name:DNM2
Synonyms:DYN2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

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

Subcellular locationi

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

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

Myopathy, centronuclear, 1 (CNM1)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers.
See also OMIM:160150
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031962368E → K in CNM1. 2 PublicationsCorresponds to variant dbSNP:rs121909092EnsemblClinVar.1
Natural variantiVAR_068365368E → Q in CNM1. 1 Publication1
Natural variantiVAR_031963369R → Q in CNM1. 1 PublicationCorresponds to variant dbSNP:rs121909089EnsemblClinVar.1
Natural variantiVAR_031964369R → W in CNM1; reduced association with the centrosome. 1 PublicationCorresponds to variant dbSNP:rs121909090EnsemblClinVar.1
Natural variantiVAR_031965465R → W in CNM1; reduced association with the centrosome; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. 3 PublicationsCorresponds to variant dbSNP:rs121909091EnsemblClinVar.1
Natural variantiVAR_068366522R → C in CNM1. 1 Publication1
Natural variantiVAR_068367522R → H in CNM1. 1 PublicationCorresponds to variant dbSNP:rs587783595EnsemblClinVar.1
Natural variantiVAR_068368523R → G in CNM1. 1 PublicationCorresponds to variant dbSNP:rs587783596EnsemblClinVar.1
Natural variantiVAR_068369560E → K in CNM1. 1 PublicationCorresponds to variant dbSNP:rs879254086EnsemblClinVar.1
Natural variantiVAR_068370618A → D in CNM1. 1 Publication1
Natural variantiVAR_039041618A → T in CNM1; severe. 2 Publications1
Natural variantiVAR_039042619S → L in CNM1; severe. 2 PublicationsCorresponds to variant dbSNP:rs121909095EnsemblClinVar.1
Natural variantiVAR_039043619S → W in CNM1; severe. 1 PublicationCorresponds to variant dbSNP:rs121909095EnsemblClinVar.1
Natural variantiVAR_068371621L → P in CNM1; centronuclear myopathy with cataracts. 1 PublicationCorresponds to variant dbSNP:rs587783597EnsemblClinVar.1
Natural variantiVAR_039044625Missing in CNM1; severe; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. 2 Publications1
Natural variantiVAR_068372627P → H in CNM1. 1 Publication1
Natural variantiVAR_068373627P → R in CNM1. 1 PublicationCorresponds to variant dbSNP:rs587783598EnsemblClinVar.1
Natural variantiVAR_062576650E → K in CNM1; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. 1 Publication1
Lethal congenital contracture syndrome 5 (LCCS5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.
See also OMIM:615368
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070163379F → V in LCCS5; hypomorphic mutation impacting on endocytosis. 1 PublicationCorresponds to variant dbSNP:rs397514735EnsemblClinVar.1
Charcot-Marie-Tooth disease, dominant, intermediate type, B (CMTDIB)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type B is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.
See also OMIM:606482
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031966555 – 557Missing in CMTDIB; may affect binding to vesicles and membranes in favor of binding to microtubules; may affect receptor-mediated endocytosis. 1 Publication3
Natural variantiVAR_031967562K → E in CMTDIB; with neutropenia; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. 2 PublicationsCorresponds to variant dbSNP:rs121909088EnsemblClinVar.1
Natural variantiVAR_070164562Missing in CMTDIB. 1 Publication1
Charcot-Marie-Tooth disease 2M (CMT2M)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced.
See also OMIM:606482
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068425358G → R in CMT2M. 1 PublicationCorresponds to variant dbSNP:rs267606772EnsemblClinVar.1
Natural variantiVAR_062574537G → C in CMT2M. 1 PublicationCorresponds to variant dbSNP:rs121909093EnsemblClinVar.1
Natural variantiVAR_062575570L → H in CMT2M. 1 PublicationCorresponds to variant dbSNP:rs121909094EnsemblClinVar.1

Keywords - Diseasei

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

Organism-specific databases

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

Chemistry databases

ChEMBLiCHEMBL5812

Polymorphism and mutation databases

BioMutaiDNM2
DMDMi47117856

PTM / Processingi

Molecule processing

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

Amino acid modifications

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

Post-translational modificationi

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

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

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

PTM databases

iPTMnetiP50570
PhosphoSitePlusiP50570
SwissPalmiP50570

Expressioni

Tissue specificityi

Ubiquitously expressed.

Gene expression databases

BgeeiENSG00000079805
CleanExiHS_DNM2
ExpressionAtlasiP50570 baseline and differential
GenevisibleiP50570 HS

Organism-specific databases

HPAiHPA054246

Interactioni

Subunit structurei

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

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108122, 127 interactors
CORUMiP50570
DIPiDIP-31244N
ELMiP50570
IntActiP50570, 113 interactors
MINTiP50570
STRINGi9606.ENSP00000347890

Chemistry databases

BindingDBiP50570

Structurei

Secondary structure

1870
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi522 – 530Combined sources9
Beta strandi533 – 535Combined sources3
Beta strandi540 – 545Combined sources6
Beta strandi550 – 555Combined sources6
Beta strandi560 – 565Combined sources6
Beta strandi567 – 573Combined sources7
Beta strandi585 – 590Combined sources6
Beta strandi596 – 599Combined sources4
Beta strandi601 – 606Combined sources6
Helixi610 – 623Combined sources14

3D structure databases

ProteinModelPortaliP50570
SMRiP50570
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP50570

Family & Domainsi

Domains and Repeats

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

Region

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

Compositional bias

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

Sequence similaritiesi

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

Phylogenomic databases

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

Family and domain databases

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

Sequences (5)i

Sequence statusi: Complete.

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

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

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

« Hide

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

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

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

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

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

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

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

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

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

Experimental Info

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

Natural variant

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

Alternative sequence

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

Sequence databases

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

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDYN2_HUMAN
AccessioniPrimary (citable) accession number: P50570
Secondary accession number(s): A8K1B6
, E7EV30, E9PEQ4, K7ESI9, Q5I0Y0, Q7Z5S3, Q9UPH4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: May 10, 2004
Last modified: July 18, 2018
This is version 196 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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

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