DNM2 (dynamin 2) - Rat Genome Database

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Gene: DNM2 (dynamin 2) Homo sapiens
Analyze
Symbol: DNM2
Name: dynamin 2
RGD ID: 730970
HGNC Page HGNC
Description: Enables SH3 domain binding activity. Involved in negative regulation of membrane tubulation; receptor internalization; and transferrin transport. Located in several cellular components, including Golgi apparatus; microtubule; and postsynaptic membrane. Implicated in Charcot-Marie-Tooth disease dominant intermediate B; centronuclear myopathy 1; and lethal congenital contracture syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2; dynamin II; dynamin-2; DYNII; LCCS5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1910,718,055 - 10,833,488 (+)EnsemblGRCh38hg38GRCh38
GRCh381910,718,079 - 10,831,903 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371910,828,755 - 10,942,579 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361910,689,755 - 10,803,579 (+)NCBINCBI36hg18NCBI36
Build 341910,689,754 - 10,803,579NCBI
Celera1910,723,575 - 10,837,431 (+)NCBI
Cytogenetic Map19p13.2NCBI
HuRef1910,405,937 - 10,520,718 (+)NCBIHuRef
CHM1_11910,829,940 - 10,943,823 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
antigen processing and presentation of exogenous peptide antigen via MHC class II  (TAS)
aorta development  (ISO)
cellular response to carbon monoxide  (IEA,ISO)
cellular response to dopamine  (IEA,ISO)
cellular response to nitric oxide  (IEA,ISO)
cellular response to X-ray  (IEA,ISO)
coronary vasculature development  (ISO)
endocytosis  (IDA,IEA,NAS)
G protein-coupled receptor internalization  (IEA,ISO)
G2/M transition of mitotic cell cycle  (NAS)
Golgi to plasma membrane transport  (IEA,ISO)
macropinocytosis  (IEA,ISO)
membrane organization  (TAS)
negative regulation of membrane tubulation  (IDA)
negative regulation of non-motile cilium assembly  (IEA,ISO)
negative regulation of transforming growth factor beta receptor signaling pathway  (IEA,ISO)
neuron projection morphogenesis  (ISS)
phagocytosis  (IEA)
positive regulation of apoptotic process  (NAS)
positive regulation of clathrin-dependent endocytosis  (IEA,ISO)
positive regulation of endocytosis  (ISO)
positive regulation of lamellipodium assembly  (IEA,ISO)
positive regulation of nitric oxide biosynthetic process  (IEA,ISO)
positive regulation of P-type sodium:potassium-exchanging transporter activity  (IEA,ISO)
positive regulation of phagocytosis  (IEA,ISO)
positive regulation of substrate adhesion-dependent cell spreading  (IEA,ISO)
positive regulation of transcription, DNA-templated  (NAS)
post-Golgi vesicle-mediated transport  (TAS)
receptor internalization  (IBA,IMP)
receptor-mediated endocytosis  (ISO,ISS)
regulation of axon extension  (ISS)
regulation of Golgi organization  (IEA,ISO)
regulation of Rac protein signal transduction  (IEA,ISO)
regulation of transcription, DNA-templated  (NAS)
response to cocaine  (IEA,ISO)
response to light stimulus  (IEA,ISO)
signal transduction  (NAS)
spermatogenesis  (IEA,ISO)
synaptic vesicle endocytosis  (IBA)
synaptic vesicle transport  (NAS)
transferrin transport  (IMP)
ventricular septum development  (ISO)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormality of the foot musculature  (IAGP)
Areflexia  (IAGP)
Areflexia of lower limbs  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axonal degeneration  (IAGP)
Calf muscle hypertrophy  (IAGP)
Cavernous hemangioma  (IAGP)
Centrally nucleated skeletal muscle fibers  (IAGP)
Congenital contracture  (IAGP)
Congenital onset  (IAGP)
Cryptorchidism  (IAGP)
Death in infancy  (IAGP)
Decreased fetal movement  (IAGP)
Decreased nerve conduction velocity  (IAGP)
Decreased number of peripheral myelinated nerve fibers  (IAGP)
Delayed gross motor development  (IAGP)
Difficulty walking  (IAGP)
Distal amyotrophy  (IAGP)
Distal muscle weakness  (IAGP)
Distal sensory impairment  (IAGP)
Easy fatigability  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Esophageal atresia  (IAGP)
Exercise-induced myalgia  (IAGP)
External ophthalmoplegia  (IAGP)
Facial palsy  (IAGP)
Flexion contracture  (IAGP)
Generalized hypotonia  (IAGP)
Heterogeneous  (IAGP)
Hyperlordosis  (IAGP)
Hyporeflexia  (IAGP)
Juvenile onset  (IAGP)
Large for gestational age  (IAGP)
Macrocephaly at birth  (IAGP)
Malignant hyperthermia  (IAGP)
Mildly elevated creatine kinase  (IAGP)
Motor delay  (IAGP)
Muscle fibrillation  (IAGP)
Myofibrillar myopathy  (IAGP)
Myopathy  (IAGP)
Neonatal asphyxia  (IAGP)
Onion bulb formation  (IAGP)
Peripheral axonal degeneration  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Peripheral neuropathy  (IAGP)
Pes cavus  (IAGP)
Polyhydramnios  (IAGP)
Proximal muscle weakness  (IAGP)
Proximal muscle weakness in lower limbs  (IAGP)
Proximal muscle weakness in upper limbs  (IAGP)
Ptosis  (IAGP)
Pyloric stenosis  (IAGP)
Respiratory insufficiency  (IAGP)
Respiratory insufficiency due to muscle weakness  (IAGP)
Retinal hemorrhage  (IAGP)
Segmental peripheral demyelination  (IAGP)
Segmental peripheral demyelination/remyelination  (IAGP)
Sensorimotor neuropathy  (IAGP)
Skeletal muscle hypertrophy  (IAGP)
Sleepy facial expression  (IAGP)
Slowly progressive  (IAGP)
Small for gestational age  (IAGP)
Spontaneous abortion  (IAGP)
Thin ribs  (IAGP)
Type 1 muscle fiber predominance  (IAGP)
Urinary incontinence  (IAGP)
References

Additional References at PubMed
PMID:7590285   PMID:9143510   PMID:9722593   PMID:10101292   PMID:10477567   PMID:10542231   PMID:10893263   PMID:11031247   PMID:11252894   PMID:11483962   PMID:11502744   PMID:11533912  
PMID:11583995   PMID:11782545   PMID:12029088   PMID:12383797   PMID:12419186   PMID:12456676   PMID:12477932   PMID:12481986   PMID:12511974   PMID:12517701   PMID:12624098   PMID:12668728  
PMID:12672817   PMID:12952949   PMID:14702039   PMID:14709338   PMID:14760703   PMID:14985334   PMID:15057824   PMID:15231747   PMID:15231748   PMID:15252009   PMID:15299020   PMID:15302935  
PMID:15483625   PMID:15489334   PMID:15545517   PMID:15696170   PMID:15703209   PMID:15731758   PMID:15790807   PMID:15834155   PMID:15895076   PMID:16049137   PMID:16055720   PMID:16169070  
PMID:16227997   PMID:16325581   PMID:16344560   PMID:16418535   PMID:16551695   PMID:16556602   PMID:16636290   PMID:16696976   PMID:16751776   PMID:17257598   PMID:17412836   PMID:17474147  
PMID:17565002   PMID:17626097   PMID:17636067   PMID:17643375   PMID:17676042   PMID:17702744   PMID:17702746   PMID:17825552   PMID:17932957   PMID:18003703   PMID:18236001   PMID:18388313  
PMID:18394888   PMID:18541215   PMID:18560793   PMID:18602423   PMID:18715908   PMID:18806795   PMID:18817572   PMID:18854154   PMID:18981119   PMID:19041431   PMID:19056867   PMID:19122038  
PMID:19126407   PMID:19155218   PMID:19331814   PMID:19380743   PMID:19502294   PMID:19528294   PMID:19531213   PMID:19623537   PMID:19738201   PMID:19833721   PMID:19932619   PMID:20089652  
PMID:20227276   PMID:20301532   PMID:20397975   PMID:20467437   PMID:20468064   PMID:20508983   PMID:20562859   PMID:20574164   PMID:20594957   PMID:20614582   PMID:20638642   PMID:20711168  
PMID:20822789   PMID:21135248   PMID:21150131   PMID:21195118   PMID:21220511   PMID:21221624   PMID:21244100   PMID:21283621   PMID:21338326   PMID:21347282   PMID:21411625   PMID:21423176  
PMID:21514436   PMID:21525035   PMID:21706016   PMID:21813615   PMID:21832049   PMID:21841817   PMID:21873635   PMID:21900206   PMID:21988832   PMID:21996738   PMID:22022388   PMID:22082156  
PMID:22091729   PMID:22096584   PMID:22103831   PMID:22174845   PMID:22268729   PMID:22360420   PMID:22396310   PMID:22528500   PMID:22558309   PMID:22574813   PMID:22586326   PMID:22613877  
PMID:22623184   PMID:22623428   PMID:22846998   PMID:22924779   PMID:22939629   PMID:22952906   PMID:22959143   PMID:23027611   PMID:23092955   PMID:23125841   PMID:23170932   PMID:23374900  
PMID:23394783   PMID:23414517   PMID:23533145   PMID:23537630   PMID:23678185   PMID:23851497   PMID:23861397   PMID:23891661   PMID:24016602   PMID:24145164   PMID:24402972   PMID:24706848  
PMID:24797263   PMID:24809731   PMID:24848261   PMID:24891602   PMID:24970086   PMID:25061227   PMID:25116793   PMID:25232009   PMID:25263585   PMID:25336256   PMID:25350771   PMID:25429064  
PMID:25501959   PMID:25681748   PMID:25754235   PMID:25921289   PMID:25957634   PMID:25982272   PMID:26186194   PMID:26344197   PMID:26413867   PMID:26446488   PMID:26472337   PMID:26475677  
PMID:26496610   PMID:26503427   PMID:26517984   PMID:26598620   PMID:26618866   PMID:26638075   PMID:26791826   PMID:26830877   PMID:26842864   PMID:26908122   PMID:26923255   PMID:26972000  
PMID:27009360   PMID:27025967   PMID:27107012   PMID:27173435   PMID:27248496   PMID:27572123   PMID:27684187   PMID:27771248   PMID:27885263   PMID:28076788   PMID:28273099   PMID:28366933  
PMID:28378594   PMID:28416666   PMID:28514442   PMID:28676641   PMID:28700943   PMID:28808055   PMID:29044420   PMID:29117863   PMID:29437695   PMID:29507755   PMID:29509190   PMID:29540532  
PMID:29668686   PMID:30196744   PMID:30232666   PMID:30371505   PMID:30463901   PMID:30575818   PMID:30975647   PMID:31010829   PMID:31017801   PMID:31091453   PMID:31182584   PMID:31209282  
PMID:31239290   PMID:31311812   PMID:31353912   PMID:31620119   PMID:31628461   PMID:31691805   PMID:31967944   PMID:31980649   PMID:32129442   PMID:32203420   PMID:32296183   PMID:32315611  
PMID:32573516   PMID:32807901   PMID:32827429   PMID:32941674   PMID:33097808   PMID:33459893   PMID:33713620   PMID:34079125  


Genomics

Comparative Map Data
DNM2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1910,718,055 - 10,833,488 (+)EnsemblGRCh38hg38GRCh38
GRCh381910,718,079 - 10,831,903 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371910,828,755 - 10,942,579 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361910,689,755 - 10,803,579 (+)NCBINCBI36hg18NCBI36
Build 341910,689,754 - 10,803,579NCBI
Celera1910,723,575 - 10,837,431 (+)NCBI
Cytogenetic Map19p13.2NCBI
HuRef1910,405,937 - 10,520,718 (+)NCBIHuRef
CHM1_11910,829,940 - 10,943,823 (+)NCBICHM1_1
Dnm2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39921,336,167 - 21,419,055 (+)NCBIGRCm39mm39
GRCm39 Ensembl921,336,204 - 21,419,055 (+)Ensembl
GRCm38921,424,908 - 21,507,759 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl921,424,908 - 21,507,759 (+)EnsemblGRCm38mm10GRCm38
MGSCv37921,229,389 - 21,311,568 (+)NCBIGRCm37mm9NCBIm37
MGSCv36921,175,347 - 21,257,526 (+)NCBImm8
Celera918,693,560 - 18,775,727 (+)NCBICelera
Cytogenetic Map9A3NCBI
cM Map97.79NCBI
Dnm2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2819,978,313 - 20,060,162 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl819,978,400 - 20,060,157 (+)Ensembl
Rnor_6.0822,458,869 - 22,540,649 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl822,458,899 - 22,540,524 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0822,512,875 - 22,594,760 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4820,527,130 - 20,610,749 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1820,527,130 - 20,610,749 (+)NCBI
Celera821,369,673 - 21,450,772 (+)NCBICelera
Cytogenetic Map8q13NCBI
Dnm2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554951,860,644 - 1,934,818 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554951,860,644 - 1,934,589 (+)NCBIChiLan1.0ChiLan1.0
DNM2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11910,974,699 - 11,107,354 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1910,933,672 - 11,106,478 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01910,272,172 - 10,386,032 (+)NCBIMhudiblu_PPA_v0panPan3
DNM2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12050,398,866 - 50,487,303 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2050,398,864 - 50,487,241 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2050,271,460 - 50,359,936 (-)NCBI
ROS_Cfam_1.02050,920,493 - 51,009,858 (-)NCBI
UMICH_Zoey_3.12050,129,310 - 50,218,400 (-)NCBI
UNSW_CanFamBas_1.02050,556,853 - 50,645,731 (-)NCBI
UU_Cfam_GSD_1.02050,798,300 - 50,886,770 (-)NCBI
Dnm2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118209,308,313 - 209,397,278 (-)NCBI
SpeTri2.0NW_004936659957,408 - 1,046,393 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DNM2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl269,474,031 - 69,574,424 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1269,474,011 - 69,574,427 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2269,941,439 - 70,005,977 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DNM2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.169,718,014 - 9,830,061 (+)NCBI
ChlSab1.1 Ensembl69,718,244 - 9,831,206 (+)Ensembl
Vero_WHO_p1.0NW_02366607410,123,763 - 10,234,870 (-)NCBI
Dnm2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248282,727,136 - 2,805,248 (+)NCBI

Position Markers
D19S226  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371914,633,406 - 14,633,619UniSTSGRCh37
GRCh371914,633,401 - 14,633,643UniSTSGRCh37
Build 361914,494,406 - 14,494,619RGDNCBI36
Celera1914,527,534 - 14,527,780UniSTS
Celera1914,527,539 - 14,527,756RGD
Cytogenetic Map19p13UniSTS
Cytogenetic Map19p13.2UniSTS
HuRef1914,203,396 - 14,203,646UniSTS
HuRef1914,203,401 - 14,203,622UniSTS
Marshfield Genetic Map1942.28UniSTS
Marshfield Genetic Map1942.28RGD
Genethon Genetic Map1941.7UniSTS
TNG Radiation Hybrid Map194796.0UniSTS
deCODE Assembly Map1936.35UniSTS
Stanford-G3 RH Map19443.0UniSTS
GeneMap99-GB4 RH Map1982.38UniSTS
Whitehead-RH Map1966.6UniSTS
NCBI RH Map19129.9UniSTS
GeneMap99-G3 RH Map19443.0UniSTS
D19S432  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371915,682,228 - 15,682,409UniSTSGRCh37
Build 361915,543,228 - 15,543,409RGDNCBI36
Celera1915,579,062 - 15,579,259RGD
Cytogenetic Map19p13.2UniSTS
HuRef1915,250,172 - 15,250,369UniSTS
Marshfield Genetic Map1942.28RGD
Marshfield Genetic Map1942.28UniSTS
deCODE Assembly Map1938.32UniSTS
Whitehead-YAC Contig Map19 UniSTS
D19S586  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37199,804,797 - 9,805,040UniSTSGRCh37
Build 36199,665,797 - 9,666,040RGDNCBI36
Celera199,700,241 - 9,700,476RGD
Cytogenetic Map19p13.2UniSTS
HuRef199,385,783 - 9,386,018UniSTS
Marshfield Genetic Map1932.94UniSTS
Marshfield Genetic Map1932.94RGD
deCODE Assembly Map1929.46UniSTS
D19S854  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371910,862,194 - 10,862,340UniSTSGRCh37
Build 361910,723,194 - 10,723,340RGDNCBI36
Celera1910,756,930 - 10,757,076RGD
Cytogenetic Map19p13.2UniSTS
HuRef1910,439,295 - 10,439,441UniSTS
TNG Radiation Hybrid Map193533.0UniSTS
Stanford-G3 RH Map1929.0UniSTS
WI-10293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371910,874,512 - 10,874,670UniSTSGRCh37
Build 361910,735,512 - 10,735,670RGDNCBI36
Celera1910,769,334 - 10,769,492RGD
Cytogenetic Map19p13.2UniSTS
HuRef1910,452,377 - 10,452,535UniSTS
Whitehead-RH Map1954.6UniSTS
IL1RL1LG_155  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371910,943,061 - 10,943,786UniSTSGRCh37
Build 361910,804,061 - 10,804,786RGDNCBI36
Celera1910,837,906 - 10,838,631RGD
HuRef1910,521,193 - 10,521,918UniSTS
RH48242  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371910,899,961 - 10,900,080UniSTSGRCh37
Build 361910,760,961 - 10,761,080RGDNCBI36
Celera1910,794,802 - 10,794,921RGD
Cytogenetic Map19p13.2UniSTS
HuRef1910,477,849 - 10,477,968UniSTS
GeneMap99-GB4 RH Map1967.52UniSTS
NCBI RH Map1987.9UniSTS
STS-L36983  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371910,942,129 - 10,942,268UniSTSGRCh37
Build 361910,803,129 - 10,803,268RGDNCBI36
Celera1910,836,974 - 10,837,113RGD
Cytogenetic Map19p13.2UniSTS
HuRef1910,520,261 - 10,520,400UniSTS
GeneMap99-GB4 RH Map1973.59UniSTS
D16S325  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map10q11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3q13.32UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map2p13-p12UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map1p36.3-p34.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19q13.4UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7990
Count of miRNA genes:1169
Interacting mature miRNAs:1502
Transcripts:ENST00000314646, ENST00000355667, ENST00000359692, ENST00000389253, ENST00000408974, ENST00000585892, ENST00000586130, ENST00000586939, ENST00000587329, ENST00000587485, ENST00000587830, ENST00000587991, ENST00000588976, ENST00000589106, ENST00000590787, ENST00000590806, ENST00000591118, ENST00000591266, ENST00000591701, ENST00000591818, ENST00000591819, ENST00000593203, ENST00000593220
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2437 2922 1649 551 1934 392 4355 2140 3527 412 1458 1610 175 1 1204 2787 5 2
Low 2 69 77 73 17 73 2 57 207 7 2 3 1 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001005360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001005361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001005362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001190716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC112707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY927542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC054501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM148999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU621654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB069057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ594929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L36983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000355667   ⟹   ENSP00000347890
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,718,079 - 10,831,903 (+)Ensembl
RefSeq Acc Id: ENST00000359692   ⟹   ENSP00000352721
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,718,093 - 10,831,884 (+)Ensembl
RefSeq Acc Id: ENST00000389253   ⟹   ENSP00000373905
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,718,079 - 10,831,903 (+)Ensembl
RefSeq Acc Id: ENST00000408974   ⟹   ENSP00000386192
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,718,208 - 10,831,424 (+)Ensembl
RefSeq Acc Id: ENST00000585892   ⟹   ENSP00000468734
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,718,079 - 10,831,047 (+)Ensembl
RefSeq Acc Id: ENST00000586130
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,786,430 - 10,786,741 (+)Ensembl
RefSeq Acc Id: ENST00000586939   ⟹   ENSP00000467430
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,718,561 - 10,777,154 (+)Ensembl
RefSeq Acc Id: ENST00000587329
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,798,387 - 10,802,599 (+)Ensembl
RefSeq Acc Id: ENST00000587485
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,781,374 - 10,793,751 (+)Ensembl
RefSeq Acc Id: ENST00000587830   ⟹   ENSP00000466603
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,783,016 - 10,812,300 (+)Ensembl
RefSeq Acc Id: ENST00000587991
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,768,553 - 10,775,815 (+)Ensembl
RefSeq Acc Id: ENST00000588976
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,755,121 - 10,759,801 (+)Ensembl
RefSeq Acc Id: ENST00000589106   ⟹   ENSP00000466914
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,829,112 - 10,830,534 (+)Ensembl
RefSeq Acc Id: ENST00000590787
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,809,208 - 10,824,806 (+)Ensembl
RefSeq Acc Id: ENST00000590806
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,808,519 - 10,831,897 (+)Ensembl
RefSeq Acc Id: ENST00000591118
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,781,374 - 10,783,113 (+)Ensembl
RefSeq Acc Id: ENST00000591266
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,763,099 - 10,772,507 (+)Ensembl
RefSeq Acc Id: ENST00000591701
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,777,169 - 10,795,746 (+)Ensembl
RefSeq Acc Id: ENST00000591818   ⟹   ENSP00000466621
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,830,338 - 10,833,488 (+)Ensembl
RefSeq Acc Id: ENST00000591819
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,769,289 - 10,777,202 (+)Ensembl
RefSeq Acc Id: ENST00000593203
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,823,224 - 10,833,484 (+)Ensembl
RefSeq Acc Id: ENST00000593220
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,795,716 - 10,798,562 (+)Ensembl
RefSeq Acc Id: ENST00000681972
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,804,980 - 10,831,874 (+)Ensembl
RefSeq Acc Id: ENST00000682285
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,718,055 - 10,803,917 (+)Ensembl
RefSeq Acc Id: ENST00000682524
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,718,055 - 10,794,734 (+)Ensembl
RefSeq Acc Id: ENST00000683738
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,718,055 - 10,804,912 (+)Ensembl
RefSeq Acc Id: NM_001005360   ⟹   NP_001005360
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,718,079 - 10,831,903 (+)NCBI
GRCh371910,828,729 - 10,944,169 (+)NCBI
Build 361910,689,755 - 10,803,579 (+)NCBI Archive
HuRef1910,405,937 - 10,520,718 (+)ENTREZGENE
CHM1_11910,829,940 - 10,943,823 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001005361   ⟹   NP_001005361
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,718,079 - 10,831,903 (+)NCBI
GRCh371910,828,729 - 10,944,169 (+)NCBI
Build 361910,689,755 - 10,803,579 (+)NCBI Archive
HuRef1910,405,937 - 10,520,718 (+)ENTREZGENE
CHM1_11910,829,940 - 10,943,823 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001005362   ⟹   NP_001005362
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,718,079 - 10,831,903 (+)NCBI
GRCh371910,828,729 - 10,944,169 (+)NCBI
Build 361910,689,755 - 10,803,579 (+)NCBI Archive
HuRef1910,405,937 - 10,520,718 (+)ENTREZGENE
CHM1_11910,829,940 - 10,943,823 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001190716   ⟹   NP_001177645
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,718,079 - 10,831,903 (+)NCBI
GRCh371910,828,729 - 10,944,169 (+)NCBI
HuRef1910,405,937 - 10,520,718 (+)ENTREZGENE
CHM1_11910,829,940 - 10,943,823 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004945   ⟹   NP_004936
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,718,079 - 10,831,903 (+)NCBI
GRCh371910,828,729 - 10,944,169 (+)NCBI
Build 361910,689,755 - 10,803,579 (+)NCBI Archive
HuRef1910,405,937 - 10,520,718 (+)ENTREZGENE
CHM1_11910,829,940 - 10,943,823 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001005360 (Get FASTA)   NCBI Sequence Viewer  
  NP_001005361 (Get FASTA)   NCBI Sequence Viewer  
  NP_001005362 (Get FASTA)   NCBI Sequence Viewer  
  NP_001177645 (Get FASTA)   NCBI Sequence Viewer  
  NP_004936 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA88025 (Get FASTA)   NCBI Sequence Viewer  
  AAD23603 (Get FASTA)   NCBI Sequence Viewer  
  AAD23604 (Get FASTA)   NCBI Sequence Viewer  
  AAH39596 (Get FASTA)   NCBI Sequence Viewer  
  AAH54501 (Get FASTA)   NCBI Sequence Viewer  
  BAC05190 (Get FASTA)   NCBI Sequence Viewer  
  BAC85978 (Get FASTA)   NCBI Sequence Viewer  
  BAC86481 (Get FASTA)   NCBI Sequence Viewer  
  BAC86797 (Get FASTA)   NCBI Sequence Viewer  
  BAD92450 (Get FASTA)   NCBI Sequence Viewer  
  BAF82520 (Get FASTA)   NCBI Sequence Viewer  
  BAG52966 (Get FASTA)   NCBI Sequence Viewer  
  BAG53560 (Get FASTA)   NCBI Sequence Viewer  
  BAG58715 (Get FASTA)   NCBI Sequence Viewer  
  EAW84144 (Get FASTA)   NCBI Sequence Viewer  
  EAW84145 (Get FASTA)   NCBI Sequence Viewer  
  EAW84146 (Get FASTA)   NCBI Sequence Viewer  
  EAW84147 (Get FASTA)   NCBI Sequence Viewer  
  EAW84148 (Get FASTA)   NCBI Sequence Viewer  
  EAW84149 (Get FASTA)   NCBI Sequence Viewer  
  EAW84150 (Get FASTA)   NCBI Sequence Viewer  
  EAW84151 (Get FASTA)   NCBI Sequence Viewer  
  P50570 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001005360   ⟸   NM_001005360
- Peptide Label: isoform 1
- UniProtKB: P50570 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001177645   ⟸   NM_001190716
- Peptide Label: isoform 5
- UniProtKB: P50570 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_004936   ⟸   NM_004945
- Peptide Label: isoform 3
- UniProtKB: P50570 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001005361   ⟸   NM_001005361
- Peptide Label: isoform 2
- UniProtKB: P50570 (UniProtKB/Swiss-Prot),   Q8N1K8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001005362   ⟸   NM_001005362
- Peptide Label: isoform 4
- UniProtKB: P50570 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000352721   ⟸   ENST00000359692
RefSeq Acc Id: ENSP00000468734   ⟸   ENST00000585892
RefSeq Acc Id: ENSP00000373905   ⟸   ENST00000389253
RefSeq Acc Id: ENSP00000467430   ⟸   ENST00000586939
RefSeq Acc Id: ENSP00000466603   ⟸   ENST00000587830
RefSeq Acc Id: ENSP00000466914   ⟸   ENST00000589106
RefSeq Acc Id: ENSP00000386192   ⟸   ENST00000408974
RefSeq Acc Id: ENSP00000347890   ⟸   ENST00000355667
RefSeq Acc Id: ENSP00000466621   ⟸   ENST00000591818
Protein Domains
Dynamin-type G   GED   PH

Promoters
RGD ID:6795398
Promoter ID:HG_KWN:28879
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000355667,   ENST00000389253,   NM_001005360,   NM_001005361,   NM_001005362,   NM_004945,   UC010DXL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361910,689,016 - 10,689,872 (+)MPROMDB
RGD ID:7238537
Promoter ID:EPDNEW_H25014
Type:initiation region
Name:DNM2_1
Description:dynamin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,718,079 - 10,718,139EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001005360.2(DNM2):c.1837G>A (p.Val613Met) single nucleotide variant Charcot-Marie-Tooth disease, dominant intermediate B [RCV000641111]|none provided [RCV001286436]|not specified [RCV000517411] Chr19:10823843 [GRCh38]
Chr19:10934519 [GRCh37]
Chr19:19p13.2
benign|likely benign
DNM2, 9-BP DEL, NT1652 deletion Charcot-Marie-Tooth disease, dominant intermediate B [RCV000007699] Chr19:19p13.2 pathogenic
NM_004945.3(DNM2):c.1672A>G (p.Lys558Glu) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789618]|Charcot-Marie-Tooth disease, dominant intermediate b, with neutropenia [RCV000007700] Chr19:10819992 [GRCh38]
Chr19:10930668 [GRCh37]
Chr19:19p13.2
pathogenic|uncertain significance
DNM2, LYS558 DEL deletion Charcot-Marie-Tooth disease, dominant intermediate b, with neutropenia [RCV000007701] Chr19:19p13.2 pathogenic
NM_001005360.2(DNM2):c.1106G>A (p.Arg369Gln) single nucleotide variant Centronuclear myopathy [RCV000145900]|Charcot-Marie-Tooth disease, dominant intermediate B [RCV000701394]|Myopathy, centronuclear, 1 [RCV000007702] Chr19:10793833 [GRCh38]
Chr19:10904509 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001005360.2(DNM2):c.1105C>T (p.Arg369Trp) single nucleotide variant Centronuclear myopathy [RCV000145899]|Charcot-Marie-Tooth disease [RCV001027496]|Charcot-Marie-Tooth disease, dominant intermediate B [RCV000641108]|Myopathy, centronuclear, 1 [RCV000007703]|not provided [RCV001537068] Chr19:10793832 [GRCh38]
Chr19:10904508 [GRCh37]
Chr19:19p13.2
pathogenic|likely pathogenic
NM_001005360.3(DNM2):c.1393C>T single nucleotide variant Centronuclear myopathy [RCV000145902]|Charcot-Marie-Tooth disease, dominant intermediate B [RCV000641110]|Myopathy, centronuclear, 1 [RCV000007704]|not provided [RCV000373773] Chr19:10798543 [GRCh38]
Chr19:10909219 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001005360.2(DNM2):c.1102G>A (p.Glu368Lys) single nucleotide variant Centronuclear myopathy [RCV000145898]|Charcot-Marie-Tooth disease, dominant intermediate B [RCV000554046]|Myopathy [RCV000626717]|Myopathy, centronuclear, 1 [RCV000007705]|not provided [RCV000725988] Chr19:10793829 [GRCh38]
Chr19:10904505 [GRCh37]
Chr19:19p13.2
pathogenic
NM_004945.3(DNM2):c.1597G>T (p.Gly533Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789617]|Charcot-Marie-Tooth disease, type 2M [RCV000007706] Chr19:10812315 [GRCh38]
Chr19:10922991 [GRCh37]
Chr19:19p13.2
pathogenic|uncertain significance
NM_004945.3(DNM2):c.1697T>A (p.Leu566His) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789619]|Charcot-Marie-Tooth disease, type 2M [RCV000007707] Chr19:10820017 [GRCh38]
Chr19:10930693 [GRCh37]
Chr19:19p13.2
pathogenic|uncertain significance
NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu) single nucleotide variant Centronuclear myopathy [RCV000145908]|Charcot-Marie-Tooth disease, dominant intermediate B [RCV000544279]|Myopathy, centronuclear, 1 [RCV000754751]|Severe X-linked myotubular myopathy [RCV000007708]|not provided [RCV000656268] Chr19:10823862 [GRCh38]
Chr19:10934538 [GRCh37]
Chr19:19p13.2
pathogenic|likely pathogenic
NM_004945.3(DNM2):c.1844C>G (p.Ser615Trp) single nucleotide variant Severe X-linked myotubular myopathy [RCV000007709] Chr19:10823862 [GRCh38]
Chr19:10934538 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001190716.2(DNM2):c.1072G>A (p.Gly358Arg) single nucleotide variant Charcot-Marie-Tooth disease, dominant intermediate B [RCV000203266]|Charcot-Marie-Tooth disease, type 2M [RCV000007710]|not provided [RCV000369987] Chr19:10793799 [GRCh38]
Chr19:10904475 [GRCh37]
Chr19:19p13.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001005361.3(DNM2):c.2425A>G (p.Ile809Val) single nucleotide variant Charcot-Marie-Tooth disease, dominant intermediate B [RCV001367706] Chr19:10830260 [GRCh38]
Chr19:10940936 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001005360.2(DNM2):c.689-3C>T single nucleotide variant Charcot-Marie-Tooth disease, dominant intermediate B [RCV000543509] Chr19:10782957 [GRCh38]
Chr19:10893633 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001005360.2(DNM2):c.1304T>G (p.Leu435Arg) single nucleotide variant Charcot-Marie-Tooth disease, dominant intermediate B [RCV000641097] Chr19:10796168 [GRCh38]
Chr19:10906844 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_004945.3(DNM2):c.1101C>T (p.His367=) single nucleotide variant Charcot-Marie-Tooth disease, dominant intermediate B [RCV000641112] Chr19:10793828 [GRCh38]
Chr19:10904504 [GRCh37]
Chr19:19p13.2
likely benign
NM_001005360.2(DNM2):c.1370A>G (p.Glu457Gly) single nucleotide variant not provided [RCV000710123] Chr19:10798520 [GRCh38]
Chr19:10909196 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_004945.3(DNM2):c.1526A>G (p.Lys509Arg) single nucleotide variant Charcot-Marie-Tooth disease, dominant intermediate B [RCV000547075] Chr19:10805948 [GRCh38]
Chr19:10916624 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001005361.3(DNM2):c.1178A>C (p.Lys393Thr) single nucleotide variant Charcot-Marie-Tooth disease, dominant intermediate B [RCV001302640] Chr19:10795421 [GRCh38]
Chr19:10906097 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_004945.3(DNM2):c.695T>A (p.Ile232Asn) single nucleotide variant Charcot-Marie-Tooth disease, dominant intermediate B [RCV000553417] Chr19:10782966 [GRCh38]
Chr19:10893642 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_004945.3(DNM2):c.1135T>G (p.Phe379Val) single nucleotide variant Lethal congenital contracture syndrome 5 [RCV000054501] Chr19:10795378 [GRCh38]
Chr19:10906054 [GRCh37]
Chr19:19p13.2
pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 copy number gain See cases [RCV000052908] Chr19:8831147..13331227 [GRCh38]
Chr19:8941823..13442041 [GRCh37]
Chr19:8802823..13303041 [NCBI36]
Chr19:19p13.2-13.13
likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 copy number gain See cases [RCV000052909] Chr19:10315258..14048994 [GRCh38]
Chr19:10425934..14159806 [GRCh37]
Chr19:10286934..14020806 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
NM_001005360.2(DNM2):c.945G>A (p.Lys315=) single nucleotide variant Malignant melanoma [RCV000071923] Chr19:10786659 [GRCh38]
Chr19:10897335 [GRCh37]
Chr19:10758335 [NCBI36]
Chr19:19p13.2
not provided
NM_001005360.2(DNM2):c.1539C>T (p.Pro513=) single nucleotide variant Malignant melanoma [RCV000063421] Chr19:10805961 [GRCh38]
Chr19:10916637 [GRCh37]
Chr19:10777637 [NCBI36]
Chr19:19p13.2
not provided
NM_001005360.2(DNM2):c.2515C>T (p.Pro839Ser) single nucleotide variant Malignant melanoma [RCV000063422] Chr19:10830350 [GRCh38]
Chr19:10941026 [GRCh37]
Chr19:10802026 [NCBI36]
Chr19:19p13.2
not provided
NM_031209.2(QTRT1):c.1154C>T (p.Thr385Ile) single nucleotide variant Malignant melanoma [RCV000063420] Chr19:10713212 [GRCh38]
Chr19:10823888 [GRCh37]
Chr19:10684888 [NCBI36]
Chr19:19p13.2
not provided
NM_001005360.2(DNM2):c.238C>T (p.His80Tyr) single nucleotide variant Charcot-Marie-Tooth disease, dominant intermediate B [RCV001083242]|Myopathy, centronuclear, 1 [RCV000396636]|none provided [RCV001286019]|not provided [RCV000461209]|not specified [RCV000145917] Chr19:10772481 [GRCh38]
Chr19:10883157 [GRCh37]
Chr19:19p13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001005360.2(DNM2):c.1077C>T (p.Gly359=) single nucleotide variant Charcot-Marie-Tooth disease, dominant intermediate B [RCV000470528]|Myopathy, centronuclear, 1 [RCV000395363]|none provided [RCV001287295]|not specified [RCV000145897] Chr19:10793804 [GRCh38]
Chr19:10904480 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_004945.3(DNM2):c.164A>G (p.Asp55Gly) single nucleotide variant not specified [RCV000120646] Chr19:10759740 [GRCh38]
Chr19:10870416 [GRCh37]
Chr19:19p13.2
not provided
NM_001005360.2(DNM2):c.190G>A (p.Val64Ile) single nucleotide variant Charcot-Marie-Tooth disease, dominant intermediate B [RCV000199355]|Myopathy, centronuclear, 1 [RCV001122144]|Peripheral neuropathy [RCV000145912]|not specified [RCV000120647] Chr19:10759766 [GRCh38]
Chr19:10870442 [GRCh37]
Chr19:19p13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001005360.2(DNM2):c.788C>T (p.Pro263Leu) single nucleotide variant Charcot-Marie-Tooth disease, dominant intermediate B [RCV000546731]|Myopathy, centronuclear, 1 [RCV000329210]|not specified [RCV000120648] Chr19:10783059 [GRCh38]
Chr19:10893735 [GRCh37]
Chr19:19p13.2
benign|likely benign|not provided
NM_001005360.2(DNM2):c.868C>T (p.Arg290Trp) single nucleotide variant Charcot-Marie-Tooth disease, dominant intermediate B [RCV000821354]|not provided [RCV000766941]|not specified [RCV000120649] Chr19:10786582 [GRCh38]
Chr19:10897258 [GRCh37]
Chr19:19p13.2
uncertain significance|not provided
NM_001005360.2(DNM2):c.1912G>A (p.Ala638Thr) single nucleotide variant Charcot-Marie-Tooth disease, dominant intermediate B [RCV001203864]|not provided [RCV000766524]|not specified [RCV000120650] Chr19:10825075 [GRCh38]
Chr19:10935751 [GRCh37]
Chr19:19p13.2
uncertain significance|not provided
NM_001005360.2(DNM2):c.1032C>T (p.Ile344=) single nucleotide variant Charcot-Marie-Tooth disease, dominant intermediate B [RCV001463018]|not specified [RCV000602897] Chr19:10793759 [GRCh38]
Chr19:10904435 [GRCh37]
Chr19:19p13.2
likely benign
NM_001005360.2(DNM2):c.162-7C>A single nucleotide variant Charcot-Marie-Tooth disease, dominant intermediate B [RCV000205800]|Myopathy, centronuclear, 1 [RCV000344636]|not specified [RCV000175646] Chr19:10759731 [GRCh38]
Chr19:10870407 [GRCh37]
Chr19:19p13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001005361.3(DNM2):c.2215A>G (p.Ile739Val) single nucleotide variant Charcot-Marie-Tooth disease, dominant intermediate B [RCV001348518] Chr19:10829192 [GRCh38]
Chr19:10939868 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001005361.3(DNM2):c.90C>G (p.Asp30Glu) single nucleotide variant Charcot-Marie-Tooth disease, dominant intermediate B [RCV001303847] Chr19:10718332 [GRCh38]
Chr19:10829008 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001005361.2(DNM2):c.1241A>G (p.Lys414Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV000144864] Chr19:10797424 [GRCh38]
Chr19:10908100 [GRCh37]
Chr19:19p13.2
likely pathogenic
NM_001005360.2(DNM2):c.1124T>A (p.Val375Glu) single nucleotide variant Centronuclear myopathy [RCV000145901] Chr19:10793851 [GRCh38]
Chr19:10904527 [GRCh37]
Chr19:19p13.2
likely pathogenic
NM_001005360.2(DNM2):c.1565G>A (p.Arg522His) single nucleotide variant Centronuclear myopathy [RCV000145903]|Charcot-Marie-Tooth disease, dominant intermediate B [RCV000552861]|Myopathy, centronuclear, 1 [RCV000679888]|not provided [RCV000275646] Chr19:10812271 [GRCh38]
Chr19:10922947 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001005360.2(DNM2):c.1567A>G (p.Arg523Gly) single nucleotide variant not provided [RCV000145904] Chr19:10812273 [GRCh38]
Chr19:10922949 [GRCh37]
Chr19:19p13.2
likely pathogenic
NM_001005360.2(DNM2):c.1731G>A (p.Lys577=) single nucleotide variant Charcot-Marie-Tooth disease, dominant intermediate B [RCV001435682]|not specified [RCV000145905] Chr19:10820039 [GRCh38]
Chr19:10930715 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001005360.2(DNM2):c.1782-11C>T single nucleotide variant Charcot-Marie-Tooth disease, dominant intermediate B [RCV001125129]|Myopathy, centronuclear, 1 [RCV001125128]|not specified [RCV000145906] Chr19:10823777 [GRCh38]
Chr19:10934453 [GRCh37]
Chr19:19p13.2
benign
NM_001005360.2(DNM2):c.1827C>T (p.Ser609=) single nucleotide variant Centronuclear myopathy [RCV000145907]|Charcot-Marie-Tooth disease, dominant intermediate B [RCV001501273]|not specified [RCV000605566] Chr19:10823833 [GRCh38]
Chr19:10934509 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001005360.2(DNM2):c.1862T>C (p.Leu621Pro) single nucleotide variant Centronuclear myopathy [RCV000145909] Chr19:10823868 [GRCh38]
Chr19:10934544 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001005360.2(DNM2):c.1880C>G (p.Pro627Arg) single nucleotide variant Centronuclear myopathy [RCV000145910]|not provided [RCV000235945] Chr19:10823886 [GRCh38]
Chr19:10934562 [GRCh37]
Chr19:19p13.2
pathogenic|likely pathogenic
NM_001005360.2(DNM2):c.1902C>T (p.Asn634=) single nucleotide variant Charcot-Marie-Tooth disease, dominant intermediate B [RCV001082270]|Myopathy, centronuclear, 1 [RCV000345751]|not provided [RCV000756032]|not specified [RCV000145911] Chr19:10825065 [GRCh38]
Chr19:10935741 [GRCh37]
Chr19:19p13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001005360.2(DNM2):c.2106G>C (p.Ser702=) single nucleotide variant Centronuclear myopathy [RCV000145913] Chr19:10829083 [GRCh38]
Chr19:10939759 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=) single nucleotide variant Charcot-Marie-Tooth disease, dominant intermediate B [RCV000860397]|Myopathy, centronuclear, 1 [RCV000312099]|not specified [RCV000145914] Chr19:10829116 [GRCh38]
Chr19:10939792 [GRCh37]
Chr19:19p13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001005360.2(DNM2):c.235+12C>A single nucleotide variant Centronuclear myopathy [RCV000145915]|Charcot-Marie-Tooth disease, dominant intermediate B [RCV000396653]|Myopathy, centronuclear, 1 [RCV000350567]|none provided [RCV001285908]|not specified [RCV000247852] Chr19:10759823 [GRCh38]
Chr19:10870499 [GRCh37]
Chr19:19p13.2
benign|likely benign|uncertain significance
NM_001005360.2(DNM2):c.235+6A>G single nucleotide variant Charcot-Marie-Tooth disease, dominant intermediate B [RCV001082138]|Myopathy, centronuclear, 1 [RCV000385125]|none provided [RCV001286499]|not provided [RCV000425199]|not specified [RCV000145916] Chr19:10759817 [GRCh38]
Chr19:10870493 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001005360.2(DNM2):c.2484G>A (p.Pro828=) single nucleotide variant Charcot-Marie-Tooth disease, dominant intermediate B [RCV001083884]|Myopathy, centronuclear, 1 [RCV001125240]|not provided [RCV000711487]|not specified [RCV000145918] Chr19:10830319 [GRCh38]
Chr19:10940995 [GRCh37]
Chr19:19p13.2
benign
NM_001005360.2(DNM2):c.2543+7C>G single nucleotide variant Charcot-Marie-Tooth disease, dominant intermediate B [RCV001083907]|Myopathy, centronuclear, 1 [RCV000346472]|none provided [RCV001282896]|not provided [RCV000711488]|not specified [RCV000145919] Chr19:10830385 [GRCh38]
Chr19:10941061 [GRCh37]
Chr19:19p13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001005360.2