Gene Gene information from NCBI Gene database.
Entrez ID 10540
Gene name Dynactin subunit 2
Gene symbol DCTN2
Synonyms (NCBI Gene)
DCTN50DYNAMITINHEL-S-77RBP50
Chromosome 12
Chromosome location 12q13.3
Summary This gene encodes a 50-kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, in
miRNA miRNA information provided by mirtarbase database.
91
miRTarBase ID miRNA Experiments Reference
MIRT050704 hsa-miR-18a-5p CLASH 23622248
MIRT045677 hsa-miR-149-5p CLASH 23622248
MIRT037985 hsa-miR-502-3p CLASH 23622248
MIRT927159 hsa-miR-1275 CLIP-seq
MIRT927160 hsa-miR-2355-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0000776 Component Kinetochore IDA 8647893
GO:0005515 Function Protein binding IPI 10226031, 16189514, 17139249, 17500595, 20978158, 21988832, 22046132, 23414759, 25416956, 26638075, 26950892, 27107012, 31515488, 32296183, 32814053, 33961781
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607376 2712 ENSG00000175203
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13561
Protein name Dynactin subunit 2 (50 kDa dynein-associated polypeptide) (Dynactin complex 50 kDa subunit) (DCTN-50) (p50 dynamitin)
Protein function Part of the dynactin complex that activates the molecular motor dynein for ultra-processive transport along microtubules. In the dynactin soulder domain, binds the ACTR1A filament and acts as a molecular ruler to determine the length (By similar
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04912 Dynamitin 16 399 Dynamitin Family
Sequence
Sequence length 401
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Motor proteins
Vasopressin-regulated water reabsorption
Amyotrophic lateral sclerosis
Huntington disease
Pathways of neurodegeneration - multiple diseases
Salmonella infection
  MHC class II antigen presentation
Regulation of PLK1 Activity at G2/M Transition
HSP90 chaperone cycle for steroid hormone receptors (SHR)
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
COPI-mediated anterograde transport
COPI-independent Golgi-to-ER retrograde traffic
AURKA Activation by TPX2
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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
Charcot-Marie-Tooth disease Uncertain significance ClinVar
ClinVar, Disgenet
ClinVar, Disgenet
ClinVar, Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
INSOMNIA GWAS catalog
★★☆☆☆
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
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease BEFREE 26517670
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Colorectal Neoplasms Colorectal neoplasm Pubtator 34080666 Associate
★☆☆☆☆
Found in Text Mining only
Cutaneous Melanoma Melanoma BEFREE 29864111
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes mellitus Pubtator 34080666 Associate
★☆☆☆☆
Found in Text Mining only
melanoma Melanoma BEFREE 29864111
★☆☆☆☆
Found in Text Mining only
Melanoma Cutaneous Malignant Melanoma Pubtator 29864111 Associate
★☆☆☆☆
Found in Text Mining only
Osteosarcoma Osteosarcoma BEFREE 16369996
★☆☆☆☆
Found in Text Mining only
Triple Negative Breast Neoplasms Triple negative breast cancer Pubtator 35385742 Associate
★☆☆☆☆
Found in Text Mining only