DNM2 dynamin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNM2provided by HGNC
Official Full Name: dynamin 2provided by HGNC
Primary source: HGNC:HGNC:2974
See related: Ensembl:ENSG00000079805 MIM:602378
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DYN2; CMT2M; DYNII; LCCS5; CMTDI1; CMTDIB; DI-CMTB
Summary: 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]
Expression: Ubiquitous expression in colon (RPKM 49.5), stomach (RPKM 41.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.2

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
109.20210226	current	GRCh38.p13 (GCF_000001405.39)	19	NC_000019.10 (10718079..10831903)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (10828755..10942579)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dynamin-2 R465W mutation induces long range perturbation in highly ordered oligomeric structures.
Title: Dynamin-2 R465W mutation induces long range perturbation in highly ordered oligomeric structures.
Dynamin 2 interacts with alpha-actinin 4 to drive tumor cell invasion.
Title: Dynamin 2 interacts with α-actinin 4 to drive tumor cell invasion.
A DNM2 Centronuclear Myopathy Mutation Reveals a Link between Recycling Endosome Scission and Autophagy.
Title: A DNM2 Centronuclear Myopathy Mutation Reveals a Link between Recycling Endosome Scission and Autophagy.
Mechanistic study of PpIX accumulation using the JFCR39 cell panel revealed a role for dynamin 2-mediated exocytosis.
Title: Mechanistic study of PpIX accumulation using the JFCR39 cell panel revealed a role for dynamin 2-mediated exocytosis.
Expression of WT and CNM mutants recreate a CNM-like phenotype, suggesting CNM mutations are gain-of-function. Histological, ultrastructural and molecular analyses pointed to key pathways uncovering the different pathomechanisms involved in centronuclear myopathy or Charcot-Marie-Tooth neuropathy linked to DNM2 mutations.
Title: Different in vivo impacts of dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or centronuclear myopathy.
Using the power of the zebrafish, authors establish novel insights into dynamin 2 localization and dynamics and provide the necessary groundwork for future studies examining dynamin 2 pathomechanisms.
Title: Insights into wild-type dynamin 2 and the consequences of DNM2 mutations from transgenic zebrafish.
High NME1 and NME2 Promote Dynamin 2 Oligomerization and Regulate Tumor Cell Endocytosis, Motility, and breast cancer Metastasis.
Title: Metastasis Suppressors NME1 and NME2 Promote Dynamin 2 Oligomerization and Regulate Tumor Cell Endocytosis, Motility, and Metastasis.
CNM mutations in DNM2 affect the distribution of caveoli.
Title: Correlative SICM-FCM reveals changes in morphology and kinetics of endocytic pits induced by disease-associated mutations in dynamin.
Interaction between PODXL and dynamin-2 promotes migration and metastasis of pancreatic cancer cells by regulating microtubule and focal adhesion dynamics.
Title: A Direct Podocalyxin-Dynamin-2 Interaction Regulates Cytoskeletal Dynamics to Promote Migration and Metastasis in Pancreatic Cancer Cells.
inhibition or knockdown of dynamin 2 (DNM2), known for its role in endocytic cell trafficking and microtubule dynamics, impaired homology-directed repair and improved response to chemotherapy of cells and of tumors
Title: Dynamin impacts homology-directed repair and breast cancer response to chemotherapy.

Submit: New GeneRIF Correction See all GeneRIFs (114)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Charcot-Marie-Tooth disease, dominant intermediate B MedGen: C1847902 OMIM: 606482	Compare labs
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. GeneReviews: Not available
Lethal congenital contracture syndrome 5 MedGen: C3809272 OMIM: 615368 GeneReviews: Not available	Compare labs
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. GeneReviews: Not available
Myopathy, centronuclear, 1 MedGen: C4551952 OMIM: 160150 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 replication requires DNM2 expression; knockdown through shRNA expression decreased viral replication in monocyte derived dendritic cell and CD4+ T cell mixed cultures	PubMed
Knockdown of dynamin 2 (DNM2) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed
Knockdown of dynamin 2 by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Tandem affinity purification and mass spectrometry analysis identify dynamin 2 (DNM2), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Envelope transmembrane glycoprotein gp41	env	The cytoplasmic tail, in particular amino acids 718-723, of HIV-1 gp41 is an important determinant for dynasore (a dynamin inhibitor) sensitivity in HIV-mediated cell-cell fusion	PubMed
Gag-Pol	gag-pol	Tandem affinity purification and mass spectrometry analysis identify dynamin 2 (DNM2), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Nef	nef	Tandem affinity purification and mass spectrometry analysis identify dynamin 2 (DNM2), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
	nef	Dyn2 is required for the infectivity enhancement function of Nef. The K44A mutant of Dyn2 markedly reduces the infectivity of nef-positive HIV	PubMed
	nef	Nef specifically interacts with dynamin 2 (Dyn2) in an in vitro pull-down assay. The middle domain and the GED of Dyn2 are both necessary and together confer full Nef binding while the myristyl moiety of Nef is critical for the interaction with Dyn2	PubMed
	nef	HIV-1 Nef enhances the infectivity of CD4-chemokine receptor-pseudotyped HIV-1 for target cells expressing HIV-1 Env. Virus-producing cells expressing dominant-negative dynamin 2 (K44A) selectively inhibits these receptor-pseudotyped virions	PubMed
Pr55(Gag)	gag	Tandem affinity purification and mass spectrometry analysis identify dynamin 2 (DNM2), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
	gag	Dynamin-dependent endocytosis is required for intracellular accumulation of HIV-1 Gag in the presence of HLA-DR	PubMed
	gag	HIV-1 Gag co-localizes with dynamin in primary T lymphocytes	PubMed
Vpu	vpu	Dominant negative dynamin 2 (K44A) acts as an inhibitor of clathrin-mediated endocytosis and inhibits the downregulation of BST-2 from the cell surface by HIV-1 Vpu	PubMed
capsid	gag	Dynamin 2 depletion by shRNA results in inhibition of the HIV-1 CA uptake by target cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH48242 (e-PCR)
- UniSTS:31497

NoName (e-PCR)
- UniSTS:9484

STS-L36983 (e-PCR)
- UniSTS:38992

D19S432 (e-PCR), detects polymorphism
- UniSTS:82018

D19S854 (e-PCR)
- UniSTS:78708

IL1RL1LG_155 (e-PCR)
- UniSTS:277372

D16S325 (e-PCR)
- UniSTS:147089

WI-10293 (e-PCR)
- UniSTS:8104

D19S586 (e-PCR), detects polymorphism
- UniSTS:58552

D19S226 (e-PCR), detects polymorphism
- UniSTS:30190

Homology

Homologs of the DNM2 gene: The DNM2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, zebrafish, and frog.
Orthologs from Annotation Pipeline: 291 organisms have orthologs with human gene DNM2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
D2 dopamine receptor binding	IEA Inferred from Electronic Annotation more info
GTP binding	NAS Non-traceable Author Statement more info	PubMed
GTPase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
GTPase activity	NAS Non-traceable Author Statement more info	PubMed
GTPase activity	TAS Traceable Author Statement more info
SH3 domain binding	IDA Inferred from Direct Assay more info	PubMed
WW domain binding	IEA Inferred from Electronic Annotation more info
enzyme binding	NAS Non-traceable Author Statement more info	PubMed
microtubule binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
microtubule binding	NAS Non-traceable Author Statement more info	PubMed
nitric-oxide synthase binding	IEA Inferred from Electronic Annotation more info
phosphatidylinositol 3-kinase regulatory subunit binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein kinase binding	IEA Inferred from Electronic Annotation more info
protein-containing complex binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
G protein-coupled receptor internalization	IEA Inferred from Electronic Annotation more info
G2/M transition of mitotic cell cycle	NAS Non-traceable Author Statement more info	PubMed
Golgi to plasma membrane transport	IEA Inferred from Electronic Annotation more info
antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS Traceable Author Statement more info
cellular response to X-ray	IEA Inferred from Electronic Annotation more info
cellular response to carbon monoxide	IEA Inferred from Electronic Annotation more info
cellular response to dopamine	IEA Inferred from Electronic Annotation more info
cellular response to nitric oxide	IEA Inferred from Electronic Annotation more info
dynamin family protein polymerization involved in mitochondrial fission	IBA Inferred from Biological aspect of Ancestor more info	PubMed
endocytosis	NAS Non-traceable Author Statement more info	PubMed
macropinocytosis	IEA Inferred from Electronic Annotation more info
membrane fusion	IBA Inferred from Biological aspect of Ancestor more info	PubMed
membrane organization	TAS Traceable Author Statement more info
mitochondrial fission	IBA Inferred from Biological aspect of Ancestor more info	PubMed
negative regulation of membrane tubulation	IDA Inferred from Direct Assay more info	PubMed
negative regulation of non-motile cilium assembly	IEA Inferred from Electronic Annotation more info
negative regulation of transforming growth factor beta receptor signaling pathway	IEA Inferred from Electronic Annotation more info
neuron projection morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
phagocytosis	IEA Inferred from Electronic Annotation more info
positive regulation of apoptotic process	NAS Non-traceable Author Statement more info	PubMed
positive regulation of clathrin-dependent endocytosis	IEA Inferred from Electronic Annotation more info
positive regulation of lamellipodium assembly	IEA Inferred from Electronic Annotation more info
positive regulation of nitric oxide biosynthetic process	IEA Inferred from Electronic Annotation more info
positive regulation of phagocytosis	IEA Inferred from Electronic Annotation more info
positive regulation of sodium:potassium-exchanging ATPase activity	IEA Inferred from Electronic Annotation more info
positive regulation of substrate adhesion-dependent cell spreading	IEA Inferred from Electronic Annotation more info
positive regulation of transcription, DNA-templated	NAS Non-traceable Author Statement more info	PubMed
postsynaptic neurotransmitter receptor internalization	IBA Inferred from Biological aspect of Ancestor more info	PubMed
receptor internalization	IBA Inferred from Biological aspect of Ancestor more info	PubMed
receptor internalization	IMP Inferred from Mutant Phenotype more info	PubMed
receptor-mediated endocytosis	ISS Inferred from Sequence or Structural Similarity more info
regulation of Golgi organization	IEA Inferred from Electronic Annotation more info
regulation of Rac protein signal transduction	IEA Inferred from Electronic Annotation more info
regulation of axon extension	ISS Inferred from Sequence or Structural Similarity more info
regulation of nitric-oxide synthase activity	TAS Traceable Author Statement more info
regulation of synapse structure or activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
regulation of transcription, DNA-templated	NAS Non-traceable Author Statement more info	PubMed
response to cocaine	IEA Inferred from Electronic Annotation more info
response to light stimulus	IEA Inferred from Electronic Annotation more info
signal transduction	NAS Non-traceable Author Statement more info	PubMed
spermatogenesis	IEA Inferred from Electronic Annotation more info
synaptic vesicle budding from presynaptic endocytic zone membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
synaptic vesicle transport	NAS Non-traceable Author Statement more info	PubMed
transferrin transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
Golgi apparatus	IDA Inferred from Direct Assay more info
Golgi membrane	TAS Traceable Author Statement more info
axon	IBA Inferred from Biological aspect of Ancestor more info	PubMed
centrosome	IEA Inferred from Electronic Annotation more info
clathrin-coated endocytic vesicle	IEA Inferred from Electronic Annotation more info
clathrin-coated pit	ISS Inferred from Sequence or Structural Similarity more info
cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cytoplasmic vesicle	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cytosol	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info
dendritic spine head	IBA Inferred from Biological aspect of Ancestor more info	PubMed
endocytic vesicle membrane	TAS Traceable Author Statement more info
endosome	IEA Inferred from Electronic Annotation more info
extracellular exosome	HDA more info	PubMed
focal adhesion	HDA more info	PubMed
glutamatergic synapse	IEA Inferred from Electronic Annotation more info
colocalizes_with growth cone	ISS Inferred from Sequence or Structural Similarity more info
lamellipodium	IEA Inferred from Electronic Annotation more info
membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
microtubule	IDA Inferred from Direct Assay more info	PubMed
microtubule cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info	PubMed
midbody	IEA Inferred from Electronic Annotation more info
mitochondrial membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
nucleus	IEA Inferred from Electronic Annotation more info
perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
phagocytic cup	IEA Inferred from Electronic Annotation more info
phagocytic vesicle membrane	IEA Inferred from Electronic Annotation more info
plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
plasma membrane	TAS Traceable Author Statement more info
postsynaptic density	IBA Inferred from Biological aspect of Ancestor more info	PubMed
postsynaptic density, intracellular component	IEA Inferred from Electronic Annotation more info
postsynaptic endocytic zone membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
postsynaptic membrane	IDA Inferred from Direct Assay more info	PubMed
presynapse	IEA Inferred from Electronic Annotation more info
protein-containing complex	IEA Inferred from Electronic Annotation more info
ruffle membrane	IEA Inferred from Electronic Annotation more info
trans-Golgi network	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: dynamin-2

Names: dynamin II

NP_001005360.1

EC 3.6.5.5

NP_001005361.1

EC 3.6.5.5

NP_001005362.1

EC 3.6.5.5

NP_001177645.1

EC 3.6.5.5

NP_004936.2

EC 3.6.5.5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008792.1 RefSeqGene

Range

4975..118832

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_238

mRNA and Protein(s)

NM_001005360.3 → NP_001005360.1 dynamin-2 isoform 1

See identical proteins and their annotated locations for NP_001005360.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes one of the longer isoforms (1).

Source sequence(s)

AC011475, AC011552, AC112707, BC039596, BC054501, BU621654

Consensus CDS

CCDS45968.1

UniProtKB/Swiss-Prot

P50570

Related

ENSP00000347890.6, ENST00000355667.10

Conserved Domains (5) summary

smart00053
Location:6 → 245

DYNc; Dynamin, GTPase

PHA03247
Location:737 → 868

PHA03247; large tegument protein UL36; Provisional

cd01256
Location:520 → 629

PH_dynamin; Dynamin pleckstrin homology (PH) domain

pfam01031
Location:216 → 502

Dynamin_M; Dynamin central region

pfam02212
Location:651 → 739

GED; Dynamin GTPase effector domain
NM_001005361.3 → NP_001005361.1 dynamin-2 isoform 2

See identical proteins and their annotated locations for NP_001005361.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon and includes an alternate in-frame exon, compared to variant 1. The resulting protein (isoform 2) is the same length as isoform 1 but differs in an internal region, compared to isoform 1.

Source sequence(s)

AC011475, AC011552, AC112707, AK097875, BC039596

Consensus CDS

CCDS45969.1

UniProtKB/Swiss-Prot

P50570

UniProtKB/TrEMBL

Q8N1K8

Related

ENSP00000373905.3, ENST00000389253.8

Conserved Domains (5) summary

smart00053
Location:6 → 245

DYNc; Dynamin, GTPase

cd01256
Location:520 → 629

PH_dynamin; Dynamin pleckstrin homology (PH) domain

pfam01031
Location:216 → 501

Dynamin_M; Dynamin central region

pfam02212
Location:651 → 739

GED; Dynamin GTPase effector domain

cl26464
Location:737 → 868

Atrophin-1; Atrophin-1 family
NM_001005362.3 → NP_001005362.1 dynamin-2 isoform 4

See identical proteins and their annotated locations for NP_001005362.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks two alternate in-frame exons and includes an alternate in-frame exon, compared to variant 1. The resulting protein (isoform 4) is shorter, compared to isoform 1.

Source sequence(s)

AC011475, AC011552, AC112707, AK289831, BC039596, BU621654

Consensus CDS

CCDS32908.1

UniProtKB/Swiss-Prot

P50570

Related

ENSP00000386192.3, ENST00000408974.8

Conserved Domains (5) summary

smart00053
Location:6 → 245

DYNc; Dynamin, GTPase

cd01256
Location:514 → 625

PH_dynamin; Dynamin pleckstrin homology (PH) domain

pfam01031
Location:216 → 501

Dynamin_M; Dynamin central region

pfam02212
Location:647 → 735

GED; Dynamin GTPase effector domain

cl26464
Location:733 → 864

Atrophin-1; Atrophin-1 family
NM_001190716.2 → NP_001177645.1 dynamin-2 isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks 3 nts at an alternate splice site, compared to variant 1. The resulting protein (isoform 5) lacks one aa in the C-terminus, compared to isoform 1.

Source sequence(s)

AK312260, BC039596, BU621654

Consensus CDS

CCDS59351.1

UniProtKB/Swiss-Prot

P50570

Related

ENSP00000468734.1, ENST00000585892.5

Conserved Domains (5) summary

smart00053
Location:6 → 245

DYNc; Dynamin, GTPase

cd01256
Location:520 → 629

PH_dynamin; Dynamin pleckstrin homology (PH) domain

pfam01031
Location:216 → 501

Dynamin_M; Dynamin central region

pfam02212
Location:651 → 739

GED; Dynamin GTPase effector domain

cl26386
Location:745 → 865

DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
NM_004945.4 → NP_004936.2 dynamin-2 isoform 3

See identical proteins and their annotated locations for NP_004936.2

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1. The resulting protein (isoform 3) is shorter, compared to isoform 1.

Source sequence(s)

AC011475, AC011552, AC112707, BC054501, BU621654

Consensus CDS

CCDS32907.1

UniProtKB/Swiss-Prot

P50570

Related

ENSP00000352721.6, ENST00000359692.10

Conserved Domains (5) summary

smart00053
Location:6 → 245

DYNc; Dynamin, GTPase

PHA03247
Location:733 → 864

PHA03247; large tegument protein UL36; Provisional

cd01256
Location:514 → 625

PH_dynamin; Dynamin pleckstrin homology (PH) domain

pfam01031
Location:216 → 502

Dynamin_M; Dynamin central region

pfam02212
Location:647 → 735

GED; Dynamin GTPase effector domain