Gene Gene information from NCBI Gene database.
Entrez ID 10059
Gene name Dynamin 1 like
Gene symbol DNM1L
Synonyms (NCBI Gene)
DLP1DRP1DVLPDYMPLEEMPFEMPF1HDYNIVOPA5
Chromosome 12
Chromosome location 12p11.21
Summary This gene encodes a member of the dynamin superfamily of GTPases. The encoded protein mediates mitochondrial and peroxisomal division, and is involved in developmentally regulated apoptosis and programmed necrosis. Dysfunction of this gene is implicated i
SNPs SNP information provided by dbSNP.
10
SNP ID Visualize variation Clinical significance Consequence
rs745921568 A>T Likely-pathogenic Coding sequence variant, stop gained, 5 prime UTR variant
rs879255686 ->A Pathogenic Coding sequence variant, intron variant, frameshift variant
rs879255687 GA>- Pathogenic 5 prime UTR variant, coding sequence variant, intron variant, frameshift variant
rs879255688 A>G Pathogenic 5 prime UTR variant, coding sequence variant, missense variant
rs1057523007 G>C Likely-pathogenic 5 prime UTR variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
379
miRTarBase ID miRNA Experiments Reference
MIRT050255 hsa-miR-25-3p CLASH 23622248
MIRT039911 hsa-miR-615-3p CLASH 23622248
MIRT134280 hsa-miR-106b-5p HITS-CLIP 22473208
MIRT134275 hsa-miR-20a-5p HITS-CLIP 22473208
MIRT134280 hsa-miR-106b-5p HITS-CLIP 22473208
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
98
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000266 Process Mitochondrial fission IBA
GO:0000266 Process Mitochondrial fission IDA 20850011, 23530241
GO:0000266 Process Mitochondrial fission IEA
GO:0000266 Process Mitochondrial fission IMP 23349293
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603850 2973 ENSG00000087470
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00429
Protein name Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-like protein) (DVLP) (Dynamin family member proline-rich carboxyl-terminal domain less) (Dymple) (Dynamin-like protein) (Dynamin-like protein 4) (Dynamin-like protein IV) (HdynIV) (Dynamin-related protein 1
Protein function Functions in mitochondrial and peroxisomal division (PubMed:11514614, PubMed:12499366, PubMed:17301055, PubMed:17460227, PubMed:17553808, PubMed:18695047, PubMed:18838687, PubMed:19342591, PubMed:19411255, PubMed:19638400, PubMed:23283981, PubMe
PDB 3W6N , 3W6O , 3W6P , 4BEJ , 4H1U , 4H1V , 5WP9 , 8T1H
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00350 Dynamin_N 28 217 Dynamin family Domain
PF01031 Dynamin_M 226 510 Dynamin central region Family
PF02212 GED 639 730 Dynamin GTPase effector domain Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed with highest levels found in skeletal muscles, heart, kidney and brain. Isoform 1 is brain-specific. Isoform 2 and isoform 3 are predominantly expressed in testis and skeletal muscles respectively. Isoform 4 is w
Sequence
Sequence length 736
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Necroptosis
NOD-like receptor signaling pathway
TNF signaling pathway
  Apoptotic execution phase
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
30
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
DNM1L-related disorder Likely pathogenic; Pathogenic rs1316999302, rs2540980636, rs886037861 RCV004545826
RCV004545842
RCV003897583
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DNM1L-related movement disorder Likely pathogenic rs2137612089 RCV001598695
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 Pathogenic; Likely pathogenic rs2137302207, rs2137523446, rs769684495, rs201259747, rs2541080714, rs2541008031, rs121908531, rs863223953, rs2540980636, rs879253874, rs879255685, rs886037861, rs879255686, rs879255687, rs1952694899
View all (9 more)
RCV001827471
RCV001775395
RCV002507784
RCV005868536
RCV002466320
View all (21 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial disease Likely pathogenic rs1316999302, rs2137520923, rs2137612346 RCV002221285
RCV002221286
RCV002221288
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT OPTIC ATROPHY, CLASSIC FORM GWAS catalog, Orphanet
GWAS catalog, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DNM1L-RELATED ENCEPHALOPATHY DUE TO MITOCHONDRIAL AND PEROXISOMAL FISSION DEFECT Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acidosis Lactic Lactic acidosis Pubtator 27328748 Associate
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 19525928, 31417649, 31770286
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 10749171
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 26812016
★☆☆☆☆
Found in Text Mining only
AICARDI-GOUTIERES SYNDROME Aicardi Goutieres Syndrome BEFREE 30940726
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 18599615, 30171839 Inhibit
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 24252614, 26122121, 32216003 Associate
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 27677309
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 23713734, 29335339, 30515821, 31019453, 31450774
★☆☆☆☆
Found in Text Mining only
Anemia, Macrocytic Anemia HPO_DG
★☆☆☆☆
Found in Text Mining only