Seroatlas · Human Serome Atlas

DNM2

Dynamin-2

Also known as: CMT2M, CMTDI1, CMTDIB, DI-CMTB, DYN2, DYN2_HUMAN, DYNII

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P50570
Gene: DNM2
Ensembl: ENSG00000079805
Chromosome: 19
Canonical length: 870 aa
Protein class: Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location: Golgi apparatus,Cytosol

OverviewNCBI Gene

Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. Five alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined. [provided by RefSeq, Jun 2010]

Canonical amino-acid sequenceUniProt

870 residues, UniProt reviewed canonical sequence.

>P50570|DNM2
     1  MGNRGMEELI PLVNKLQDAF SSIGQSCHLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
    61  SGIVTRRPLI LQLIFSKTEH AEFLHCKSKK FTDFDEVRQE IEAETDRVTG TNKGISPVPI
   121  NLRVYSPHVL NLTLIDLPGI TKVPVGDQPP DIEYQIKDMI LQFISRESSL ILAVTPANMD
   181  LANSDALKLA KEVDPQGLRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
   241  DIEGKKDIRA ALAAERKFFL SHPAYRHMAD RMGTPHLQKT LNQQLTNHIR ESLPALRSKL
   301  QSQLLSLEKE VEEYKNFRPD DPTRKTKALL QMVQQFGVDF EKRIEGSGDQ VDTLELSGGA
   361  RINRIFHERF PFELVKMEFD EKDLRREISY AIKNIHGVRT GLFTPDLAFE AIVKKQVVKL
   421  KEPCLKCVDL VIQELINTVR QCTSKLSSYP RLREETERIV TTYIREREGR TKDQILLLID
   481  IEQSYINTNH EDFIGFANAQ QRSTQLNKKR AIPNQGEILV IRRGWLTINN ISLMKGGSKE
   541  YWFVLTAESL SWYKDEEEKE KKYMLPLDNL KIRDVEKGFM SNKHVFAIFN TEQRNVYKDL
   601  RQIELACDSQ EDVDSWKASF LRAGVYPEKD QAENEDGAQE NTFSMDPQLE RQVETIRNLV
   661  DSYVAIINKS IRDLMPKTIM HLMINNTKAF IHHELLAYLY SSADQSSLME ESADQAQRRD
   721  DMLRMYHALK EALNIIGDIS TSTVSTPVPP PVDDTWLQSA SSHSPTPQRR PVSSIHPPGR
   781  PPAVRGPTPG PPLIPVPVGA AASFSAPPIP SRPGPQSVFA NSDLFPAPPQ IPSRPVRIPP
   841  GIPPGVPSRR PPAAPSRPTI IRPAEPSLLD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DNM2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.35
Highest tissue expression: 111 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 111 nTPM
skeletal muscle: 97 nTPM
colon: 96 nTPM
small intestine: 91 nTPM
stomach: 87 nTPM
skin: 79 nTPM

Single-cell type

neutrophils: 569 nCPM
retinal horizontal cells: 381 nCPM
foveolar cells: 379 nCPM
colonocytes: 378 nCPM
proximal tubule cells: 322 nCPM
goblet cells: 320 nCPM

Immune cell

NK-cell: 8.2 nTPM
non-classical monocyte: 7.9 nTPM
plasmacytoid DC: 7.1 nTPM
eosinophil: 6.2 nTPM
intermediate monocyte: 5.5 nTPM
memory CD8 T-cell: 4.1 nTPM

Brain region

white matter: 141 nTPM
medulla oblongata: 121 nTPM
midbrain: 115 nTPM
cerebellum: 112 nTPM
basal ganglia: 110 nTPM
pons: 110 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DNM2.

Disease | AllUniProt

Conditions DNM2 is implicated in, by any mechanism.

Myopathy, centronuclear, 1 (CNM1) MIM:160150
Lethal congenital contracture syndrome 5 (LCCS5) MIM:615368
Charcot-Marie-Tooth disease, dominant intermediate B (CMTDIB) MIM:606482
Charcot-Marie-Tooth disease, axonal, type 2M (CMT2M) MIM:606482

Disease | GeneticClinVar

30 pathogenic / likely-pathogenic of 1,395 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Charcot-Marie-Tooth disease dominant intermediate B
Centronuclear myopathy
Autosomal dominant centronuclear myopathy
Charcot-Marie-Tooth disease
DNM2-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.18
gnomAD pLI: 1
gnomAD missense Z: 3.48
DepMap mean gene effect: -1.16
DepMap dependency class: common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DNM2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DNM2 as an antibody target. Whether an autoantibody or antibody against DNM2 could matter depends on whether native DNM2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DNM2 is annotated at the cell surface, where native DNM2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label DNM2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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