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This gene encodes a member of a family of guanosine triphosphate (GTP)-binding proteins that associate with microtubules and are involved in vesicular transport. The encoded protein functions in the development of megakaryocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] See more...
Aliases for DNM3 Gene
Aliases for DNM3 Gene
External Ids for DNM3 Gene
- HGNC: 29125
- NCBI Entrez Gene: 26052
- Ensembl: ENSG00000197959
- OMIM®: 611445
- UniProtKB/Swiss-Prot: Q9UQ16
Previous GeneCards Identifiers for DNM3 Gene
- GC01P169051
- GC01P168542
- GC01P170077
- GC01P143034
Summaries for DNM3 Gene
-
This gene encodes a member of a family of guanosine triphosphate (GTP)-binding proteins that associate with microtubules and are involved in vesicular transport. The encoded protein functions in the development of megakaryocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
GeneCards Summary for DNM3 Gene
DNM3 (Dynamin 3) is a Protein Coding gene. Diseases associated with DNM3 include Neuropathy, Hereditary Sensory, Type Id and Centronuclear Myopathy. Among its related pathways are Signaling by GPCR and Activated TLR4 signalling. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is DNM2.
UniProtKB/Swiss-Prot Summary for DNM3 Gene
-
Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Most probably involved in vesicular trafficking processes, in particular endocytosis (By similarity).
-
GTPases are a group of enzymes that catalyze hydrolysis of the gamma phosphate bond in guanine triphosphate (GTP) to form guanine diphosphate (GDP). Mg2+ ions are essential for catalytic activity. GTPases, often coupled to G proteins, are essential in signal transduction.
Additional gene information for DNM3 Gene
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNM3 Gene
Genomics for DNM3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for DNM3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around DNM3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNM3
- Top Transcription factor binding sites by QIAGEN in the DNM3 gene promoter:
-
- aMEF-2
- AREB6
- ATF-2
- c-Myb
- C/EBPbeta
- CRE-BP1
- GATA-1
- GATA-2
- GATA-3
- POU6F1 (c2)
Genomic Locations for DNM3 Gene
Latest Assembly
- chr1:171,841,495-172,418,466
- (GRCh38/hg38)
- Size:
- 576,972 bases
- Orientation:
- Plus strand
Previous Assembly
- chr1:171,810,638-172,387,606
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 576,969 bases
- Orientation:
- Plus strand
Genomic View for DNM3 Gene
Genes around DNM3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q24.3 by HGNC
- 1q24.3 by Entrez Gene
- 1q24.3 by Ensembl
DNM3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for DNM3 Gene
Proteins for DNM3 Gene
-
Protein details for DNM3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UQ16-DYN3_HUMAN
- Recommended name:
- Dynamin-3
- Protein Accession:
- Q9UQ16
- A9Z1Y1
- O14982
- O95555
- Q1MTM8
- Q5W129
- Q6P2G1
- Q9H0P3
- Q9H548
- Q9NQ68
- Q9NQN6
Protein attributes for DNM3 Gene
- Size:
- 869 amino acids
- Molecular mass:
- 97746 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAA74843.2; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for DNM3 Gene
Selected DME Specific Peptides for DNM3 Gene
- Q9UQ16:
-
- INRIFHER
- LNQQLTNHIR
- LRREISYAIKNIHG
- GVVNRSQ
- DQNTLMEES
- LILAVTPAN
- RPTIIRP
- ELACDSQEDVDSWKAS
- VDFEKRIEGSGDQ
- FHERFPFE
- AERKFFLSHPAYRH
- TKVPVGDQP
- LPQIAVVG
- EYAEFLH
- PKTIMHLMINN
- DLANSDALK
- RKTKALLQMV
- ADRMGTPHLQK
- DLPGITKVP
- FALFNTEQRNVYKDYR
- AKEVDPQG
- SPHVLNLTL
- ETDRVTG
- SLSWYKD
- AEFLHCK
- EEKEKKYMLPLD
- DFLPRGSGIVTRRPL
- GIMKGGS
- TKLDLMD
- PPQVPSRP
- SYINTNHEDFIGFANAQQRS
- RTGLFTPD
- LIPLVNRLQDAFSA
- EQAQRRDEMLRMY
- LMEESAEQAQRRD
- LRRGYVGVVNR
- VIRKGWL
Post-translational modifications for DNM3 Gene
Other Protein References for DNM3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_005245136.1
- XP_016856465.1
- XP_016856466.1
- XP_016856467.1
- XP_016856468.1
- XP_016856469.1
- XP_016856471.1
- XP_016856472.1
- XP_016856473.1
- XP_016856474.1
- XP_016856475.1
- XP_016856476.1
- XP_016856477.1
- XP_016856478.1
- XP_016856479.1
- XP_016856480.1
- XP_016856481.1
- NP_001129599.1
- NP_001265181.1
- NP_001337133.1
- NP_001337134.1
- NP_001337135.1
- NP_056384.2
Antibodies for research
- LifeSpan BioSciences DNM3 / Dynamin 3 Antibody
-
Custom Antibody ServicesOriGene Antibodies for DNM3
- Novus Biologicals Antibodies for DNM3
-
Abcam antibodies for DNM3
- Invitrogen Antibodies for DNM3 (AFLGC-Dnm3)
-
Biorbyt antibodies for DNM3
-
Custom Antibody ServicesProSci Antibodies for DNM3
-
Santa Cruz Biotechnology (SCBT) Antibodies for DNM3
Protein products for research
-
OriGene Purified Proteins for DNM3
- Search Origene for MassSpec and Protein Over-expression Lysates for DNM3
- Origene Custom Protein Services for DNM3
-
Abcam proteins for DNM3
Assay products for research
- antibodies-online: Show 4 available Dynamin 3 Elisa Kits ranked by validation data
- Compare Top Dynamin 3 Elisa Kits
-
Quality Products:
Domains & Families for DNM3 Gene
Gene Families for DNM3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for DNM3 Gene
- InterPro:
- Blocks:
-
- Pleckstrin-like
- Dynamin
- Ribosomal protein S10
Suggested Antigen Peptide Sequences for DNM3 Gene
- GenScript: Design optimal peptide antigens:
-
- T-dynamin (DYN3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9UQ16UniProtKB/Swiss-Prot:
DYN3_HUMAN :- Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.
- Family:
-
- Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.
Function for DNM3 Gene
Molecular function for DNM3 Gene
- UniProtKB/Swiss-Prot Function:
- Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Most probably involved in vesicular trafficking processes, in particular endocytosis (By similarity).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=GTP + H2O = GDP + H(+) + phosphate; Xref=Rhea:RHEA:19669, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:58189; EC=3.6.5.5;.
Enzyme Numbers (IUBMB) for DNM3 Gene
Phenotypes From GWAS Catalog for DNM3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0003924 | GTPase activity | IEA,ISS | -- |
| GO:0005515 | protein binding | IPI | 15252009 |
| GO:0005525 | GTP binding | IEA | -- |
| GO:0008017 | microtubule binding | IBA | 21873635 |
Phenotypes for DNM3 Gene
- MGI mutant phenotypes for DNM3:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for DNM3:
Animal Models for DNM3 Gene
- MGI Knock Outs for DNM3:
-
- Dnm3 Dnm3<tm1.2Pdc>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for DNM3 - Starting at $85 >
- * DNM3 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for DNM3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DNM3
-
Santa Cruz Biotechnology (SCBT) CRISPR for DNM3
miRNA for DNM3 Gene
- miRTarBase miRNAs that target DNM3
-
- mmu-miR-223-3p (MIRT009748)
- mmu-let-7b-5p (MIRT012242)
- mmu-miR-297a-5p (MIRT013173)
- hsa-miR-124-3p (MIRT022316)
- hsa-let-7b-5p (MIRT032198)
- mmu-miR-297b-5p (MIRT590226)
- mmu-miR-297c-5p (MIRT590227)
- mmu-miR-467f (MIRT590228)
- mmu-miR-466f-3p (MIRT590229)
- mmu-miR-669h-3p (MIRT590230)
- mmu-miR-669k-3p (MIRT590231)
- mmu-miR-448-3p (MIRT590232)
- mmu-miR-669f-3p (MIRT590233)
- mmu-miR-669i (MIRT590234)
- mmu-miR-669j (MIRT590235)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DNM3
- Browse OriGene Inhibitory RNA Products For DNM3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNM3
Clone products for research
- Applied Biological Materials (abm): Clones for DNM3 - Starting at $45 >
- * DNM3 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG221573
- MG222102
- MR221573
- MR221573L3
- MR221573L4
- MR222102
- MR222102L3
- MR222102L4
- RC224326
- RC224326L3
- RC224326L4
- RC227774
- RC227774L3
- RC227774L4
- RC238881
- RG224326
- RG227774
- RR210360
- RR210360L3
- RR210360L4
- MR221573L3V
- MR221573L4V
- MR222102L3V
- MR222102L4V
- RC224326L3V
- RC224326L4V
- RC227774L3V
- RC227774L4V
- RR210360L3V
- RR210360L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for DNM3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DNM3
Cell Lines for research
-
Horizon Cell Lines for DNM3
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DNM3 Gene
Localization for DNM3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for DNM3 Gene
- Cytoplasm. Cytoplasm, cytoskeleton. Note=Microtubule-associated. {ECO:0000305}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 4 |
| extracellular | 4 |
| cytoskeleton | 4 |
| mitochondrion | 3 |
| nucleus | 3 |
| cytosol | 3 |
| golgi apparatus | 3 |
| endosome | 2 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
- Golgi apparatus (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IBA | 21873635 |
| GO:0005794 | Golgi apparatus | IEA | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
| GO:0005874 | microtubule | IEA | -- |
| GO:0005886 | plasma membrane | IBA | 21873635 |
Pathways & Interactions for DNM3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Synaptic vesicle cycle | ||
| 2 | Developmental Biology |
.51
|
|
| 3 | Innate Immune System |
.61
|
|
| 4 | Vesicle-mediated transport | ||
| 5 | RET signaling | ||
Pathways by source for DNM3 Gene
1 Sino Biological pathway for DNM3 Gene
1 BioSystems pathway for DNM3 Gene
17 Reactome pathways for DNM3 Gene
5 KEGG pathways for DNM3 Gene
1 R&D Systems pathway for DNM3 Gene
Interacting Proteins for DNM3 Gene
Selected Interacting proteins:
Q9UQ16-DYN3_HUMAN
ENSP00000356705
for DNM3 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for DNM3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000266 | mitochondrial fission | IBA | 21873635 |
| GO:0003374 | dynamin family protein polymerization involved in mitochondrial fission | IBA | 21873635 |
| GO:0006897 | endocytosis | IEA,ISS | -- |
| GO:0007416 | synapse assembly | ISS | -- |
| GO:0016185 | synaptic vesicle budding from presynaptic endocytic zone membrane | IBA | 21873635 |
No data available for SIGNOR curated interactions for DNM3 Gene
Drugs & Compounds for DNM3 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ESI 09 |
|
263707-16-0 |
|
|
(4) Tocris Compounds for DNM3 Gene
| Compound | Action | Cas Number |
|---|---|---|
| 8-CPT-2Me-cAMP, sodium salt | Selective Epac activator | 634207-53-7 |
| 8-pCPT-2-O-Me-cAMP-AM | Selective Epac activator; cell-permeable analog of 8CPT-2Me-cAMP (Cat. No. 1645) | 1152197-23-3 |
| ESI 09 | EPAC inhibitor | 263707-16-0 |
| Salirasib | Ras inhibitor; also induces autophagy | 162520-00-5 |
(1) ApexBio Compounds for DNM3 Gene
| Compound | Action | Cas Number |
|---|---|---|
| Dynasore | Dynamin and GTPase inhibitor | 304448-55-3 |
Transcripts for DNM3 Gene
mRNA/cDNA for DNM3 Gene
- 6 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000355305 3280 nts (view in UCSC)
- ENST00000367731 7613 nts (view in UCSC)
- ENST00000367733 2322 nts (view in UCSC)
- ENST00000485254 815 nts (view in UCSC)
- ENST00000491124 822 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for DNM3 - Starting at $85 >
- * DNM3 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for DNM3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DNM3
-
Santa Cruz Biotechnology (SCBT) CRISPR for DNM3
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DNM3
- Browse OriGene Inhibitory RNA Products For DNM3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNM3
Clone products for research
- Applied Biological Materials (abm): Clones for DNM3 - Starting at $45 >
- * DNM3 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG221573
- MG222102
- MR221573
- MR221573L3
- MR221573L4
- MR222102
- MR222102L3
- MR222102L4
- RC224326
- RC224326L3
- RC224326L4
- RC227774
- RC227774L3
- RC227774L4
- RC238881
- RG224326
- RG227774
- RR210360
- RR210360L3
- RR210360L4
- MR221573L3V
- MR221573L4V
- MR222102L3V
- MR222102L4V
- RC224326L3V
- RC224326L4V
- RC227774L3V
- RC227774L4V
- RR210360L3V
- RR210360L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for DNM3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DNM3
Relevant External Links for DNM3 Gene
- GeneLoc Exon Structure for
- DNM3
Expression for DNM3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Blood (Hematopoietic System)
- Megakaryocytes Hematopoietic Bone Marrow
- Spinal Cord (Nervous System)
- Bone (Muscoskeletal System)
- Cartilage (Muscoskeletal System)
- Glial Cells (Uncategorized)
mRNA differential expression in normal tissues according to GTEx for DNM3 Gene
This gene is overexpressed in Brain - Cerebellar Hemisphere (x6.4), Brain - Cerebellum (x4.5), and Brain - Frontal Cortex (BA9) (x4.2).
This gene is overexpressed in Brain (41.3), Frontal cortex (10.4), and Fetal Brain (6.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DNM3 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DNM3
SOURCE GeneReport for Unigene cluster for DNM3 Gene:
Hs.654775Evidence on tissue expression from TISSUES for DNM3 Gene
- Nervous system(4.9)
- Kidney(4.4)
- Blood(2.4)
- Eye(2.1)
- Heart(2.1)
Primer products for research
-
OriGene qPCR primer pairs for DNM3
Gene Expression Assays for research
No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DNM3 Gene
Orthologs for DNM3 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | DNM3 29 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | DNM3 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | DNM3 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | DNM3 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Dnm3 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Dnm3 29 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | DNM3 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | DNM3 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 30 |
|
ManyToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dnm3 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | dnm3 30 |
|
OneToOne | |
| dnm2a 29 |
|
||||
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.10361 29 |
|
||
| Soybean (Glycine max) |
eudicotyledons | Gma.4720 29 |
|
||
| Barley (Hordeum vulgare) |
Liliopsida | Hv.2342 29 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os.27352 29 |
|
||
| Wheat (Triticum aestivum) |
Liliopsida | Ta.307 29 |
|
||
| Corn (Zea mays) |
Liliopsida | Zm.5017 29 |
|
- Species where no ortholog for DNM3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Worm (Caenorhabditis elegans)
Evolution for DNM3 Gene
- ENSEMBL:
- Gene Tree for DNM3 (if available)
- TreeFam:
- Gene Tree for DNM3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for DNM3: view image
- Alliance of Genome Resources:
- Additional Orthologs for DNM3
Paralogs for DNM3 Gene
Variants for DNM3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNM3 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs139523475 | Benign: not provided | 172,379,182(+) |
C/T NM_015569.5(DNM3):c.2058C>T (p.Asn686=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
| rs2301454 | Benign: not provided | 172,388,786(+) |
G/A NM_015569.5(DNM3):c.2499G>A (p.Thr833=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
| rs760019506 | Likely Benign: not provided | 172,068,913(+) |
G/T NM_015569.5(DNM3):c.1422+8G>T |
INTRON | |
| rs781193654 | Uncertain Significance: not provided | 172,038,338(+) |
G/A NM_015569.5(DNM3):c.869G>A (p.Arg290Gln) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2615149 | CNV | deletion | 19546169 |
| esv2664393 | CNV | deletion | 23128226 |
| esv2670196 | CNV | deletion | 23128226 |
| esv275460 | CNV | loss | 21479260 |
| esv3332602 | CNV | insertion | 20981092 |
| esv3587919 | CNV | loss | 21293372 |
| esv3587920 | CNV | loss | 21293372 |
| esv3587922 | CNV | loss | 21293372 |
| esv3587923 | CNV | loss | 21293372 |
| nsv1000079 | CNV | loss | 25217958 |
| nsv1006542 | CNV | loss | 25217958 |
| nsv3521 | CNV | insertion | 18451855 |
| nsv3532 | CNV | deletion | 18451855 |
| nsv3543 | CNV | deletion | 18451855 |
| nsv465650 | CNV | loss | 19166990 |
| nsv477367 | CNV | novel sequence insertion | 20440878 |
| nsv508047 | OTHER | sequence alteration | 20534489 |
| nsv548192 | CNV | loss | 21841781 |
| nsv831893 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
11.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.19;
39.54% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for DNM3 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNM3 Gene
Disorders for DNM3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| neuropathy, hereditary sensory, type id |
|
|
| centronuclear myopathy |
|
|
| myopathy, centronuclear, 1 |
|
|
| sezary's disease |
|
|
Search DNM3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for DNM3
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for DNM3 Gene
Publications for DNM3 Gene
- Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10048485) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4
- New gene functions in megakaryopoiesis and platelet formation. (PMID: 22139419) Gieger C … Soranzo N (Nature 2011) 3 40
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
- The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J … Grant SF (BMC medical genetics 2010) 3 40
- Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. (PMID: 20935629) Heid IM … Lindgren CM (Nature genetics 2010) 3 40
ExternalLinks
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Sources for DNM3 Gene
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