Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1785
Gene name Gene Name - the full gene name approved by the HGNC.
Dynamin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DNM2
Synonyms (NCBI Gene) Gene synonyms aliases
CMT2M, CMTDI1, CMTDIB, DI-CMTB, DYN2, DYNII, LCCS5
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.2
Summary Summary of gene provided in NCBI Entrez 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 be
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121909088 A>G Pathogenic, uncertain-significance Coding sequence variant, missense variant
rs121909089 G>A,T Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs121909090 C>T Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs121909091 C>T Pathogenic Coding sequence variant, missense variant
rs121909092 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT002670 hsa-miR-124-3p Microarray 15685193
MIRT007139 hsa-miR-130a-3p qRT-PCR 23418453
MIRT002670 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT002670 hsa-miR-124-3p Microarray 15685193
MIRT049062 hsa-miR-92a-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000086 Process G2/M transition of mitotic cell cycle NAS 7590285
GO:0000139 Component Golgi membrane TAS
GO:0000166 Function Nucleotide binding IEA
GO:0001891 Component Phagocytic cup IEA
GO:0001931 Component Uropod IDA 18480402
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602378 2974 ENSG00000079805
Protein
UniProt ID P50570
Protein name Dynamin-2 (EC 3.6.5.5) (Dynamin 2) (Dynamin II)
Protein function Catalyzes the hydrolysis of GTP and utilizes this energy to mediate vesicle scission at plasma membrane during endocytosis and filament remodeling at many actin structures during organization of the actin cytoskeleton (PubMed:15731758, PubMed:19
PDB 2YS1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00350 Dynamin_N 34 207 Dynamin family Domain
PF01031 Dynamin_M 216 502 Dynamin central region Family
PF00169 PH 520 624 PH domain Domain
PF02212 GED 648 739 Dynamin GTPase effector domain Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed (PubMed:7590285). Expressed in skeletal muscle and the peripheral nerve (PubMed:19623537). {ECO:0000269|PubMed:19623537, ECO:0000269|PubMed:7590285}.
Sequence
MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRG
SGIVTRRPLILQLIFSKTEHAEFLHCKSKKFTDFDEVRQEIEAETDRVTGTNKGISPVPI
NLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMILQFISRESSLILAVTPANMD
LANSDALKLAKEVDPQGLRTIGVITKL
DLMDEGTDARDVLENKLLPLRRGYIGVVNRSQK
DIEGKKDIRAALAAERKFFLSHPAYRHMADRMGTPHLQKTLNQQLTNHIRESLPALRSKL
QSQLLSLEKEVEEYKNFRPDDPTRKTKALLQMVQQFGVDFEKRIEGSGDQVDTLELSGGA
RINRIFHERFPFELVKMEFDEKDLRREISYAIKNIHGVRTGLFTPDLAFEAIVKKQVVKL
KEPCLKCVDLVIQELINTVRQCTSKLSSYPRLREETERIVTTYIREREGRTKDQILLLID
IEQSYINTNHEDFIGFANAQQR
STQLNKKRAIPNQGEILVIRRGWLTINNISLMKGGSKE
YWFVLTAESLSWYKDEEEKEKKYMLPLDNLKIRDVEKGFMSNKHVFAIFNTEQRNVYKDL
RQIELACDSQEDVDSWKASFLRAG
VYPEKDQAENEDGAQENTFSMDPQLERQVETIRNLV
DSYVAIINKSIRDLMPKTIMHLMINNTKAFIHHELLAYLYSSADQSSLMEESADQAQRRD
DMLRMYHALKEALNIIGDI
STSTVSTPVPPPVDDTWLQSASSHSPTPQRRPVSSIHPPGR
PPAVRGPTPGPPLIPVPVGAAASFSAPPIPSRPGPQSVFANSDLFPAPPQIPSRPVRIPP
GIPPGVPSRRPPAAPSRPTIIRPAEPSLLD
Sequence length 870
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Phospholipase D signaling pathway
Endocytosis
Fc gamma R-mediated phagocytosis
Synaptic vesicle cycle
Endocrine and other factor-regulated calcium reabsorption
Bacterial invasion of epithelial cells
Salmonella infection
  Toll Like Receptor 4 (TLR4) Cascade
Gap junction degradation
Formation of annular gap junctions
NOSTRIN mediated eNOS trafficking
MHC class II antigen presentation
Lysosome Vesicle Biogenesis
Golgi Associated Vesicle Biogenesis
Recycling pathway of L1
Clathrin-mediated endocytosis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Centronuclear Myopathy autosomal dominant centronuclear myopathy, centronuclear myopathy rs121909092, rs121909089, rs587783595, rs587783597, rs121909090, rs773598203, rs121909095, rs587783598, rs1555715869, rs121909091, rs587783594 N/A
Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease dominant intermediate B rs587783595, rs879254086, rs1064793101, rs121909092, rs587783596, rs121909089, rs773598203, rs587783597, rs121909095, rs1555715869, rs121909090, rs267606772, rs587783598, rs746903992, rs864309705
View all (3 more)
N/A
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease rs121909090, rs199927590, rs1269225724 N/A
Myopathy myopathy rs121909092 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Ischemic Stroke Ischemic stroke N/A N/A GWAS
Myocardial Infarction Myocardial infarction N/A N/A GWAS
Peripheral Neuropathy peripheral neuropathy N/A N/A ClinVar
Psoriasis Psoriasis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alcoholic Neuropathy Associate 25492887
Breast Neoplasms Associate 24753582
Bundle Branch Block Associate 25492887
Carcinoma Hepatocellular Associate 27813498, 32573516, 34190023
Carcinoma Pancreatic Ductal Associate 21841817, 31967944
Carcinoma Renal Cell Associate 35662107
Carcinoma Squamous Cell Inhibit 20574164
Cardiomyopathies Associate 25492887
Central Nervous System Infections Associate 34130600
Charcot Marie Tooth Disease Associate 19502294, 20817456, 22396310, 25492887, 26517984, 33684277, 35993408