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; AllianceGenome:HGNC:2974
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
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (10718079..10831903)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (10844675..10958914)
105.20220307	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?

[The dynamin-2-gene related centronuclear myopathy].
Title: [The dynamin-2-gene related centronuclear myopathy].
BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule Growth in Cardiomyocytes.
Title: BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule Growth in Cardiomyocytes.
Implication of Dynamin-2 (DNM2) Mutations in Adult T-cell Acute Lymphoblastic Leukemia.
Title: Implication of Dynamin-2 (DNM2) Mutations in Adult T-cell Acute Lymphoblastic Leukemia.
Dynamin-2 regulates microtubule stability via an endocytosis-independent mechanism.
Title: Dynamin-2 regulates microtubule stability via an endocytosis-independent mechanism.
Gain-of-Function Dynamin-2 Mutations Linked to Centronuclear Myopathy Impair Ca(2+)-Induced Exocytosis in Human Myoblasts.
Title: Gain-of-Function Dynamin-2 Mutations Linked to Centronuclear Myopathy Impair Ca(2+)-Induced Exocytosis in Human Myoblasts.
Serum exosomal coronin 1A and dynamin 2 as neural tube defect biomarkers.
Title: Serum exosomal coronin 1A and dynamin 2 as neural tube defect biomarkers.
Imaging-based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy.
Title: Imaging-based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy.
BIN1 modulation in vivo rescues dynamin-related myopathy.
Title: BIN1 modulation in vivo rescues dynamin-related myopathy.
Beta-Pix-dynamin 2 complex promotes colorectal cancer progression by facilitating membrane dynamics.
Title: Beta-Pix-dynamin 2 complex promotes colorectal cancer progression by facilitating membrane dynamics.
Dynamin-2 mediates clathrin-dependent endocytosis for amyloid-beta internalization in brain microvascular endothelial cells.
Title: Dynamin-2 mediates clathrin-dependent endocytosis for amyloid-β internalization in brain microvascular endothelial cells.

Submit: New GeneRIF Correction See all GeneRIFs (131)

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
Autosomal dominant centronuclear myopathy MedGen: C4551952 OMIM: 160150 GeneReviews: Not available	Compare labs
Charcot-Marie-Tooth disease dominant intermediate B MedGen: C1847902 OMIM: 606482 GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview	Compare labs
Fetal akinesia-cerebral and retinal hemorrhage syndrome MedGen: C4706410 OMIM: 615368 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	NAS Non-traceable Author Statement more info	PubMed
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activity	NAS Non-traceable Author Statement more info	PubMed
enables GTPase activity	TAS Traceable Author Statement more info
enables SH3 domain binding	IDA Inferred from Direct Assay more info	PubMed
enables enzyme binding	NAS Non-traceable Author Statement more info	PubMed
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule binding	NAS Non-traceable Author Statement more info	PubMed
enables phosphatidylinositol-4,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G2/M transition of mitotic cell cycle	NAS Non-traceable Author Statement more info	PubMed
involved_in actin filament bundle organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in actin filament bundle organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS Traceable Author Statement more info
involved_in autophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in centrosome cycle	ISS Inferred from Sequence or Structural Similarity more info
involved_in endocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in endocytosis	NAS Non-traceable Author Statement more info	PubMed
involved_in membrane organization	TAS Traceable Author Statement more info
involved_in membrane tubulation	IDA Inferred from Direct Assay more info	PubMed
involved_in membrane tubulation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of membrane tubulation	IDA Inferred from Direct Assay more info	PubMed
involved_in neuron projection morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in phagocytosis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of apoptotic process	NAS Non-traceable Author Statement more info	PubMed
involved_in post-Golgi vesicle-mediated transport	TAS Traceable Author Statement more info
involved_in protein polymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in receptor internalization	IBA Inferred from Biological aspect of Ancestor more info
involved_in receptor internalization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in receptor-mediated endocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in receptor-mediated endocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of axon extension	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction	NAS Non-traceable Author Statement more info	PubMed
involved_in stress fiber assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in synaptic vesicle budding from presynaptic endocytic zone membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic vesicle transport	NAS Non-traceable Author Statement more info	PubMed
involved_in transferrin transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle scission	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in centriole	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in clathrin-coated pit	ISS Inferred from Sequence or Structural Similarity more info
located_in clathrin-coated vesicle	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endocytic vesicle membrane	TAS Traceable Author Statement more info
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in focal adhesion	HDA more info	PubMed
colocalizes_with growth cone	ISS Inferred from Sequence or Structural Similarity more info
is_active_in microtubule	IBA Inferred from Biological aspect of Ancestor more info
located_in microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in midbody	IEA Inferred from Electronic Annotation more info
located_in neuron projection	ISS Inferred from Sequence or Structural Similarity more info
located_in phagocytic cup	IEA Inferred from Electronic Annotation more info
located_in phagocytic vesicle membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in podosome	IEA Inferred from Electronic Annotation more info
located_in postsynaptic density	ISS Inferred from Sequence or Structural Similarity more info
located_in postsynaptic membrane	IDA Inferred from Direct Assay more info	PubMed
located_in presynapse	IEA Inferred from Electronic Annotation more info
located_in recycling endosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info
located_in uropod	IDA Inferred from Direct Assay more info	PubMed

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

A8K1B6, E7EV30, E9PEQ4, K7ESI9, P50570, Q5I0Y0, Q7Z5S3, Q9UPH4

Related

ENSP00000347890.6, ENST00000355667.11

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

ENSP00000373905.4, ENST00000389253.9

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_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

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
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

PRK14951
Location:745 → 865

PRK14951; DNA polymerase III subunits gamma and tau; 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_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