Details for: DNM2

Gene ID: 1785

Symbol: DNM2

Ensembl ID: ENSG00000079805

Description: dynamin 2

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 3.04
    Marker Score: 2626.5
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 2.72
    Marker Score: 1585
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 2.63
    Marker Score: 3544
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 2.45
    Marker Score: 2963
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 2.14
    Marker Score: 6712
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.04
    Marker Score: 30517.5
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 2.01
    Marker Score: 580
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.98
    Marker Score: 35156
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.95
    Marker Score: 1975
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.93
    Marker Score: 1154
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.9
    Marker Score: 2050
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.9
    Marker Score: 6738
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.89
    Marker Score: 7307.5
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 1.87
    Marker Score: 1442
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.82
    Marker Score: 2685.5
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.8
    Marker Score: 755
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.77
    Marker Score: 39499
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.76
    Marker Score: 28297
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.76
    Marker Score: 7367
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.7
    Marker Score: 13059.5
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.68
    Marker Score: 1929
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 1.66
    Marker Score: 2001
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.65
    Marker Score: 410
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 1.64
    Marker Score: 10477
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.64
    Marker Score: 1807.5
  • Cell Name: IgG plasmablast (CL0000982)
    Fold Change: 1.64
    Marker Score: 451
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.63
    Marker Score: 3840
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.62
    Marker Score: 99933
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.62
    Marker Score: 15268
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.61
    Marker Score: 16607
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.6
    Marker Score: 31908.5
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 1.6
    Marker Score: 1089
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.6
    Marker Score: 4283
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.59
    Marker Score: 33924
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.59
    Marker Score: 60300
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.59
    Marker Score: 6453.5
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 1.58
    Marker Score: 510
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.57
    Marker Score: 498
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.55
    Marker Score: 3714
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.55
    Marker Score: 484
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.53
    Marker Score: 14578
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.52
    Marker Score: 13068.5
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.52
    Marker Score: 55962
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 1.51
    Marker Score: 753
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 1.49
    Marker Score: 1794
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.47
    Marker Score: 401.5
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.47
    Marker Score: 3224
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.46
    Marker Score: 6036
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.45
    Marker Score: 2792
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.44
    Marker Score: 2037
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.44
    Marker Score: 12628.5
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.41
    Marker Score: 6765
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.4
    Marker Score: 408
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 1.39
    Marker Score: 504
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.38
    Marker Score: 2133.5
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.36
    Marker Score: 672
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 1.36
    Marker Score: 714
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.35
    Marker Score: 1346
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.35
    Marker Score: 934
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 1.34
    Marker Score: 385
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.34
    Marker Score: 1517
  • Cell Name: IgA plasmablast (CL0000984)
    Fold Change: 1.33
    Marker Score: 350
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 1.33
    Marker Score: 268
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.31
    Marker Score: 4660
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 1.31
    Marker Score: 1257
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 1.31
    Marker Score: 873
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 1.29
    Marker Score: 8416
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.28
    Marker Score: 20074
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 1.27
    Marker Score: 794
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.27
    Marker Score: 2677
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.27
    Marker Score: 761
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 1.26
    Marker Score: 7492
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 1.25
    Marker Score: 881
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.24
    Marker Score: 12570.5
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.24
    Marker Score: 600
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.22
    Marker Score: 3084
  • Cell Name: podocyte (CL0000653)
    Fold Change: 1.21
    Marker Score: 448
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 1.21
    Marker Score: 1152
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 1.2
    Marker Score: 1449
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.2
    Marker Score: 1102
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 1.19
    Marker Score: 791
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.19
    Marker Score: 807
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.19
    Marker Score: 66404.5
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 1.18
    Marker Score: 613
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 1.18
    Marker Score: 425
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.18
    Marker Score: 1272
  • Cell Name: Unknown (CL0000548)
    Fold Change: 1.17
    Marker Score: 854
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.17
    Marker Score: 1549
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.16
    Marker Score: 1230
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 1.16
    Marker Score: 421
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 1.16
    Marker Score: 433
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.15
    Marker Score: 675
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.15
    Marker Score: 275
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 1.15
    Marker Score: 2856
  • Cell Name: mesenchymal lymphangioblast (CL0005021)
    Fold Change: 1.15
    Marker Score: 256
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 1.14
    Marker Score: 250
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 1.12
    Marker Score: 453
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.11
    Marker Score: 11202
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.1
    Marker Score: 1162
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 1.1
    Marker Score: 1594

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Other Information

**Key characteristics** * DNM2 is a large protein with a molecular weight of approximately 160 kDa. * It is a transmembrane protein with a cytoplasmic domain and two transmembrane domains. * It is found in various cell types, including immune cells, corneal endothelial cells, lens epithelial cells, and colon epithelial cells. * It is a key regulator of the adaptive immune system, axonal guidance, and endocytosis. **Pathways and functions** * **Adaptive immune system:** DNM2 is a key regulator of adaptive immune responses. It is expressed in various immune cells, including dendritic cells, T cells, and B cells. It is involved in the regulation of T cell activation, B cell development, and antibody production. * **Axon guidance:** DNM2 is also involved in axon guidance, a process by which nerve cells form connections with target cells. It is expressed in neurons and is required for the guidance of axons during development. * **Clathrin-mediated endocytosis:** DNM2 is a key component of clathrin-mediated endocytosis, a process by which cells take up extracellular material. It is expressed in various cell types, including immune cells. * **Developmental biology:** DNM2 is essential for the development of the nervous system. It is expressed in neural stem cells and is required for the differentiation and survival of neurons. * **Immune system:** DNM2 is a key regulator of the immune system. It is expressed in various immune cells, including dendritic cells, T cells, and B cells. It is involved in the regulation of immune responses, including the activation of T cells and the production of antibodies. **Clinical significance** Mutations in the DNM2 gene have been linked to several human diseases. These diseases include: * **Primary immunodeficiency:** DNM2 mutations are a common cause of primary immunodeficiency, a group of disorders characterized by a lack of antibodies. * **Autoimmune disorders:** Mutations in DNM2 have also been linked to autoimmune disorders, such as rheumatoid arthritis and lupus. * **Neurodegenerative diseases:** Mutations in DNM2 have been linked to several neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. DNM2 is a critical gene for the proper functioning of the immune system and for the development of the nervous system. Mutations in this gene can lead to a variety of diseases, highlighting its importance in human health.

Genular Protein ID: 3868702210

Symbol: DYN2_HUMAN

Name: N/A

UniProtKB Accession Codes:

P50570 A8K1B6 E7EV30 E9PEQ4 K7ESI9 Q5I0Y0 Q7Z5S3 Q9UPH4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 5 CDD 2 CORUM 1 CTD 1 ChEBI 18 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 ELM 1 EMBL 10 EPD 1 Ensembl 5 EvolutionaryTrace 1 ExpressionAtlas 1 GO 47 Gene3D 3 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 11 KEGG 1 MANE-Select 1 MIM 8 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 MoonDB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 1 PIR 1 PRINTS 1 PRO 1 PROSITE 4 PROSITE-ProRule 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 Pumba 1 RNAct 1 Reactome 11 RefSeq 5 Rhea 2 SAM 1 SIGNOR 1 SMART 3 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TCDB 2 TreeFam 1 UCSC 1 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7590285

Title: Isolation of an ubiquitously expressed cDNA encoding human dynamin II, a member of the large GTP-binding protein family.

PubMed ID: 7590285

DOI: 10.1016/0378-1119(95)00275-b

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11583995

Title: Dynamin isoform-specific interaction with the shank/ProSAP scaffolding proteins of the postsynaptic density and actin cytoskeleton.

PubMed ID: 11583995

DOI: 10.1074/jbc.m104927200

PubMed ID: 15048127

Title: Dynamin 2 binds gamma-tubulin and participates in centrosome cohesion.

PubMed ID: 15048127

DOI: 10.1038/ncb1112

PubMed ID: 16325581

Title: TTP specifically regulates the internalization of the transferrin receptor.

PubMed ID: 16325581

DOI: 10.1016/j.cell.2005.10.021

PubMed ID: 15703209

Title: SNX9 regulates dynamin assembly and is required for efficient clathrin-mediated endocytosis.

PubMed ID: 15703209

DOI: 10.1091/mbc.e04-11-1016

PubMed ID: 17257598

Title: Myosin 1E interacts with synaptojanin-1 and dynamin and is involved in endocytosis.

PubMed ID: 17257598

DOI: 10.1016/j.febslet.2007.01.021

PubMed ID: 17676042

Title: Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.

PubMed ID: 17676042

DOI: 10.1038/ng2086

PubMed ID: 18353773

Title: A novel sorting nexin modulates endocytic trafficking and alpha-secretase cleavage of the amyloid precursor protein.

PubMed ID: 18353773

DOI: 10.1074/jbc.m801531200

PubMed ID: 18480402

Title: The PCH family member proline-serine-threonine phosphatase-interacting protein 1 targets to the leukocyte uropod and regulates directed cell migration.

PubMed ID: 18480402

DOI: 10.1091/mbc.e08-02-0225

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19605363

Title: Dynamin2 GTPase and cortactin remodel actin filaments.

PubMed ID: 19605363

DOI: 10.1074/jbc.m109.024398

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 20496096

Title: Calcineurin activity is required for the completion of cytokinesis.

PubMed ID: 20496096

DOI: 10.1007/s00018-010-0401-z

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22022388

Title: Identification of novel NPRAP/delta-catenin-interacting proteins and the direct association of NPRAP with dynamin 2.

PubMed ID: 22022388

DOI: 10.1371/journal.pone.0025379

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 29437695

Title: SNX18 regulates ATG9A trafficking from recycling endosomes by recruiting Dynamin-2.

PubMed ID: 29437695

DOI: 10.15252/embr.201744837

PubMed ID: 33713620

Title: Soluble ACE2-mediated cell entry of SARS-CoV-2 via interaction with proteins related to the renin-angiotensin system.

PubMed ID: 33713620

DOI: 10.1016/j.cell.2021.02.053

PubMed ID: 36445308

Title: GSK3alpha phosphorylates dynamin-2 to promote GLUT4 endocytosis in muscle cells.

PubMed ID: 36445308

DOI: 10.1083/jcb.202102119

PubMed ID: 15731758

Title: Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.

PubMed ID: 15731758

DOI: 10.1038/ng1514

PubMed ID: 16227997

Title: Mutations in dynamin 2 cause dominant centronuclear myopathy.

PubMed ID: 16227997

DOI: 10.1038/ng1657

PubMed ID: 17932957

Title: Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.

PubMed ID: 17932957

DOI: 10.1002/ana.21235

PubMed ID: 17636067

Title: Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease.

PubMed ID: 17636067

DOI: 10.1212/01.wnl.0000265820.51075.61

PubMed ID: 17825552

Title: Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.

PubMed ID: 17825552

DOI: 10.1016/j.nmd.2007.06.467

PubMed ID: 18560793

Title: Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation.

PubMed ID: 18560793

DOI: 10.1007/s00415-008-0808-8

PubMed ID: 19623537

Title: Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis.

PubMed ID: 19623537

DOI: 10.1002/humu.21086

PubMed ID: 19122038

Title: A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation.

PubMed ID: 19122038

DOI: 10.1212/01.wnl.0000338624.25852.12

PubMed ID: 19932620

Title: Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation.

PubMed ID: 19932620

DOI: 10.1016/j.nmd.2009.10.005

PubMed ID: 19932619

Title: Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset.

PubMed ID: 19932619

DOI: 10.1016/j.nmd.2009.10.006

PubMed ID: 20227276

Title: Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.

PubMed ID: 20227276

DOI: 10.1016/j.nmd.2010.02.016

PubMed ID: 22396310

Title: Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

PubMed ID: 22396310

DOI: 10.1002/humu.22067

PubMed ID: 23092955

Title: Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.

PubMed ID: 23092955

DOI: 10.1038/ejhg.2012.226

PubMed ID: 24135484

Title: The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish.

PubMed ID: 24135484

DOI: 10.1242/dmm.012286

PubMed ID: 32315611

Title: A DNM2 Centronuclear Myopathy Mutation Reveals a Link between Recycling Endosome Scission and Autophagy.

PubMed ID: 32315611

DOI: 10.1016/j.devcel.2020.03.018

PubMed ID: 34744632

Title: Gain-of-Function Properties of a Dynamin 2 Mutant Implicated in Charcot-Marie-Tooth Disease.

PubMed ID: 34744632

DOI: 10.3389/fncel.2021.745940

Sequence Information:

  • Length: 870
  • Mass: 98064
  • Checksum: 2F4567B75980935D
  • Sequence:
    • MGNRGMEELI PLVNKLQDAF SSIGQSCHLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG 
SGIVTRRPLI LQLIFSKTEH AEFLHCKSKK FTDFDEVRQE IEAETDRVTG TNKGISPVPI 
NLRVYSPHVL NLTLIDLPGI TKVPVGDQPP DIEYQIKDMI LQFISRESSL ILAVTPANMD 
LANSDALKLA KEVDPQGLRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK 
DIEGKKDIRA ALAAERKFFL SHPAYRHMAD RMGTPHLQKT LNQQLTNHIR ESLPALRSKL 
QSQLLSLEKE VEEYKNFRPD DPTRKTKALL QMVQQFGVDF EKRIEGSGDQ VDTLELSGGA 
RINRIFHERF PFELVKMEFD EKDLRREISY AIKNIHGVRT GLFTPDLAFE AIVKKQVVKL 
KEPCLKCVDL VIQELINTVR QCTSKLSSYP RLREETERIV TTYIREREGR TKDQILLLID 
IEQSYINTNH EDFIGFANAQ QRSTQLNKKR AIPNQGEILV IRRGWLTINN ISLMKGGSKE 
YWFVLTAESL SWYKDEEEKE KKYMLPLDNL KIRDVEKGFM SNKHVFAIFN TEQRNVYKDL 
RQIELACDSQ EDVDSWKASF LRAGVYPEKD QAENEDGAQE NTFSMDPQLE RQVETIRNLV 
DSYVAIINKS IRDLMPKTIM HLMINNTKAF IHHELLAYLY SSADQSSLME ESADQAQRRD 
DMLRMYHALK EALNIIGDIS TSTVSTPVPP PVDDTWLQSA SSHSPTPQRR PVSSIHPPGR 
PPAVRGPTPG PPLIPVPVGA AASFSAPPIP SRPGPQSVFA NSDLFPAPPQ IPSRPVRIPP 
GIPPGVPSRR PPAAPSRPTI IRPAEPSLLD

Genular Protein ID: 958160286

Symbol: Q8N1K8_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q8N1K8

Database IDs:

ARBA 1 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 EMBL 2 GO 3 Gene3D 2 Genevisible 1 GenomeRNAi 1 InterPro 6 MINT 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 4 PeptideAtlas 1 Pfam 3 PharmGKB 1 RefSeq 1 SAM 1 SMART 2 SUPFAM 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

Sequence Information:

  • Length: 464
  • Mass: 52199
  • Checksum: A56592DDAD9B7368
  • Sequence:
    • MAFEAIVKKQ IVKLKEPSLK CVDLVVSELA TVIKKCAEKL SSYPRLREET ERIVTTYIRE 
REGRTKDQIL LLIDIEQSYI NTNHEDFIGF ANAQQRSTQL NKKRAIPNQG EILVIRRGWL 
TINNISLMKG GSKEYWFVLT AESLSWYKDE EEKEKKYMLP LDNLKIRDVE KGFMSNKHVF 
AIFNTEQRNV YKDLRQIELA CDSQEDVDSW KASFLRAGVY PEKDQAENED GAQENTFSMD 
PQLERQVETI RNLVDSYVAI INKSIRDLMP KTIMHLMINN TKAFIHHELL AYLYSSADQS 
SLMEESADQA QRRDDMLRMY HALKEALNII GDISTSTVST PVPPPVDDTW LQSASSHSPT 
PQRRPVSSIH PPGRPPAVRG PTPGPPLIPV PVGAAASFSA PPIPSRPGPQ SVFANSDLFP 
APPQIPSRPV RIPPGIPPGV PSRRPPAAPS RPTIIRPAEP SLLD

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.