DNM2 Chromosome 19
Dynamin 2
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What This Gene Does
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]
Gene Info
Gene Group
"Pleckstrin homology domain containing|MicroRNA protein coding host genes|Dynamins"
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000079805
Associated Conditions (19)
Charcot-Marie-Tooth disease dominant intermediate B
Charcot-Marie-Tooth disease
dominant intermediate B
with neutropenia
Autosomal dominant centronuclear myopathy
Centronuclear myopathy
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Inborn genetic diseases
DNM2-related disorder
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Peripheral neuropathy
Malignant tumor of esophagus
Moyamoya angiopathy
See cases
Limb-girdle muscular dystrophy
Abnormality of the musculature
Myopathy
Severe X-linked myotubular myopathy
Sensorimotor neuropathy
Key Variants
RS1028907663
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B
Health Risk
RS121909088
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, dominant intermediate B, with neutropenia
Health Risk
RS121909089
Conflicting classifications of pathogenicity
Autosomal dominant centronuclear myopathy, Centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B
Health Risk
RS121909094
Conflicting classifications of pathogenicity
Autosomal dominant Charcot-Marie-Tooth disease type 2M, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease dominant intermediate B
Health Risk
RS1301279979
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate B
Health Risk
RS140043676
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate B, DNM2-related disorder, Charcot-Marie-Tooth disease dominant intermediate B
Health Risk
RS140208362
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate B, Autosomal dominant centronuclear myopathy, Inborn genetic diseases
Health Risk
RS1426762153
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B
Health Risk
RS1428679687
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate B
Health Risk
RS142963320
Conflicting classifications of pathogenicity
Autosomal dominant centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B, Fetal akinesia-cerebral and retinal hemorrhage syndrome
Health Risk
RS144250390
Conflicting classifications of pathogenicity
Peripheral neuropathy, Charcot-Marie-Tooth disease dominant intermediate B, Autosomal dominant centronuclear myopathy
Health Risk
RS144763522
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate B
Health Risk
All Variants (105)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS753175954 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases |
| RS753402698 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B, Autosomal dominant centronuclear myopathy |
| RS753989925 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate B |
| RS754691182 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate B |
| RS755608537 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate B |
| RS757121012 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate B |
| RS757366208 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate B |
| RS757892950 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate B |
| RS758246840 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B |
| RS759242886 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate B |
| RS760254039 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate B |
| RS763624831 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases |
| RS763894364 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B, Autosomal dominant centronuclear myopathy |
| RS763986985 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate B |
| RS768285660 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate B, Autosomal dominant centronuclear myopathy, Inborn genetic diseases |
| RS768817257 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate B |
| RS769906659 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B |
| RS776073354 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate B, Autosomal dominant centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B |
| RS776126973 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate B, Autosomal dominant centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B |
| RS777609224 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B |
| RS777800520 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate B |
| RS778548382 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B |
| RS779315825 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate B |
| RS878854149 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate B |
| RS879254300 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B |
| RS886043756 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate B |
| RS927749691 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate B, Autosomal dominant centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B |
| RS951875086 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B, Centronuclear myopathy |
| RS963604980 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate B, Autosomal dominant centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B |
| RS1064793101 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B |
| RS199927590 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease |
| RS2072577342 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease dominant intermediate B, Centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B |
| RS2073098775 | Health Risk | Likely pathogenic | Autosomal dominant centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B, Centronuclear myopathy |
| RS2073249488 | Health Risk | Likely pathogenic | Moyamoya angiopathy, Moyamoya angiopathy |
| RS2513333606 | Health Risk | Likely pathogenic | Autosomal dominant centronuclear myopathy, Autosomal dominant centronuclear myopathy |
| RS2513348956 | Health Risk | Likely pathogenic | Autosomal dominant centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B, Centronuclear myopathy |
| RS587783594 | Health Risk | Likely pathogenic | Centronuclear myopathy, Centronuclear myopathy |
| RS587783595 | Health Risk | Likely pathogenic | Centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B, Autosomal dominant centronuclear myopathy |
| RS587783596 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease dominant intermediate B, Centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B |
| RS746903992 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B |
| RS864309705 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B |
| RS879254086 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease dominant intermediate B, Centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B |
| RS121909090 | Health Risk | Pathogenic | Autosomal dominant centronuclear myopathy, Centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B |
| RS121909091 | Health Risk | Pathogenic | Autosomal dominant centronuclear myopathy, Centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B |
| RS121909092 | Health Risk | Pathogenic | Autosomal dominant centronuclear myopathy, Centronuclear myopathy, Myopathy |
| RS121909095 | Health Risk | Pathogenic | Severe X-linked myotubular myopathy, Centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B |
| RS1269225724 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease |
| RS1555715869 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease dominant intermediate B, Autosomal dominant centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B |
| RS2146014404 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B |
| RS773598203 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease dominant intermediate B, Centronuclear myopathy, Autosomal dominant centronuclear myopathy |