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, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, n... See more...

Aliases for DCTN2 Gene

Aliases for DCTN2 Gene

  • Dynactin Subunit 2 2 3 4 5
  • 50 KDa Dynein-Associated Polypeptide 3 4
  • Dynactin Complex 50 KDa Subunit 3 4
  • Dynactin 2 (P50) 2 3
  • P50 Dynamitin 3 4
  • DCTN-50 2 4
  • DCTN50 3 4
  • RBP50 2 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Epididymis Secretory Protein Li 77 3
  • DYNAMITIN 3
  • HEL-S-77 3
  • DCTN2 5

External Ids for DCTN2 Gene

Previous GeneCards Identifiers for DCTN2 Gene

  • GC12P059194
  • GC12M058067
  • GC12M057640
  • GC12M056210
  • GC12M057924
  • GC12M054961

Summaries for DCTN2 Gene

Entrez Gene Summary for DCTN2 Gene

  • 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, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit is present in 4-5 copies per dynactin molecule. It contains three short alpha-helical coiled-coil domains that may mediate association with self or other dynactin subunits. It may interact directly with the largest subunit (p150) of dynactin and may affix p150 in place. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2012]

GeneCards Summary for DCTN2 Gene

DCTN2 (Dynactin Subunit 2) is a Protein Coding gene. Diseases associated with DCTN2 include Charcot-Marie-Tooth Disease and Neuronopathy, Distal Hereditary Motor, Type Viib. Among its related pathways are Cell cycle_Spindle assembly and chromosome separation and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include motor activity and spectrin binding.

UniProtKB/Swiss-Prot Summary for DCTN2 Gene

  • Modulates cytoplasmic dynein binding to an organelle, and plays a role in prometaphase chromosome alignment and spindle organization during mitosis. Involved in anchoring microtubules to centrosomes. May play a role in synapse formation during brain development.

Gene Wiki entry for DCTN2 Gene

Additional gene information for DCTN2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DCTN2 Gene

Genomics for DCTN2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DCTN2 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 DCTN2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DCTN2

Top Transcription factor binding sites by QIAGEN in the DCTN2 gene promoter:
  • HOXA3
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • PPAR-gamma1
  • PPAR-gamma2
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for DCTN2 Gene

Genomic Locations for DCTN2 Gene
chr12:57,530,050-57,547,331
(GRCh38/hg38)
Size:
17,282 bases
Orientation:
Minus strand
chr12:57,923,885-57,941,114
(GRCh37/hg19)
Size:
17,230 bases
Orientation:
Minus strand

Genomic View for DCTN2 Gene

Genes around DCTN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DCTN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DCTN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DCTN2 Gene

Proteins for DCTN2 Gene

  • Protein details for DCTN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13561-DCTN2_HUMAN
    Recommended name:
    Dynactin subunit 2
    Protein Accession:
    Q13561
    Secondary Accessions:
    • B2RBK5
    • Q86YN2
    • Q9BW17

    Protein attributes for DCTN2 Gene

    Size:
    401 amino acids
    Molecular mass:
    44231 Da
    Quaternary structure:
    • Subunit of dynactin, a multiprotein complex associated with dynein. Interacts with BICD2 and CEP135 (By similarity). Interacts with DYNAP (PubMed:20978158). Interacts with ECPAS (PubMed:20682791). Interacts with MAPRE1 (PubMed:10226031).
    SequenceCaution:
    • Sequence=AAO34395.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for DCTN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DCTN2 Gene

Post-translational modifications for DCTN2 Gene

  • Ubiquitination at Lys140, Lys146, and Lys175
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DCTN2 Gene

Domains & Families for DCTN2 Gene

Gene Families for DCTN2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DCTN2 Gene

InterPro:
Blocks:
  • Dynamitin
ProtoNet:

Suggested Antigen Peptide Sequences for DCTN2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ77785 (A8K8J9_HUMAN)
  • p50 dynamitin (DCTN2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13561

UniProtKB/Swiss-Prot:

DCTN2_HUMAN :
  • Belongs to the dynactin subunit 2 family.
Family:
  • Belongs to the dynactin subunit 2 family.
genes like me logo Genes that share domains with DCTN2: view

Function for DCTN2 Gene

Molecular function for DCTN2 Gene

UniProtKB/Swiss-Prot Function:
Modulates cytoplasmic dynein binding to an organelle, and plays a role in prometaphase chromosome alignment and spindle organization during mitosis. Involved in anchoring microtubules to centrosomes. May play a role in synapse formation during brain development.
GENATLAS Biochemistry:
dynactin 2,component of a large macromolecular complex required for the cytoplasmic dynein-driven movement of organelles along microtubules,homologious to Drosophila glued

Phenotypes From GWAS Catalog for DCTN2 Gene

Gene Ontology (GO) - Molecular Function for DCTN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
GO:0005515 protein binding IPI 10226031
GO:0019901 protein kinase binding IPI 17139249
GO:0030507 spectrin binding IDA 23704327
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with DCTN2: view
genes like me logo Genes that share phenotypes with DCTN2: view

Animal Models for DCTN2 Gene

MGI Knock Outs for DCTN2:
  • Dctn2 Dctn2<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for DCTN2 Gene

miRTarBase miRNAs that target DCTN2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DCTN2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DCTN2 Gene

Localization for DCTN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DCTN2 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Membrane. Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DCTN2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 4
nucleus 3
golgi apparatus 3
plasma membrane 2
endoplasmic reticulum 2
endosome 2
lysosome 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DCTN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 kinetochore IDA 8647893
GO:0005623 cell IEA --
GO:0005737 cytoplasm IBA 21873635
GO:0005813 centrosome IBA,IDA 8647893
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with DCTN2: view

Pathways & Interactions for DCTN2 Gene

genes like me logo Genes that share pathways with DCTN2: view

Pathways by source for DCTN2 Gene

2 GeneGo (Thomson Reuters) pathways for DCTN2 Gene
  • Cell cycle_Spindle assembly and chromosome separation
  • Cytoskeleton remodeling Neurofilaments

Gene Ontology (GO) - Biological Process for DCTN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007017 microtubule-based process IEA --
GO:0007052 mitotic spindle organization IBA,ISO --
GO:0007080 mitotic metaphase plate congression IMP 8647893
genes like me logo Genes that share ontologies with DCTN2: view

No data available for SIGNOR curated interactions for DCTN2 Gene

Drugs & Compounds for DCTN2 Gene

(3) Drugs for DCTN2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with DCTN2: view

Transcripts for DCTN2 Gene

mRNA/cDNA for DCTN2 Gene

7 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DCTN2

Alternative Splicing Database (ASD) splice patterns (SP) for DCTN2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11 ^ 12 ^
SP1: - - - -
SP2: - - - - -
SP3: - - - - - - -
SP4: -
SP5: - - - - - - -
SP6: - - - -
SP7:
SP8:
SP9:
SP10: - - - -
SP11: -
SP12: -
SP13:

ExUns: 13 ^ 14a · 14b ^ 15 ^ 16a · 16b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for DCTN2 Gene

GeneLoc Exon Structure for
DCTN2

Expression for DCTN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DCTN2 Gene

Protein differential expression in normal tissues from HIPED for DCTN2 Gene

This gene is overexpressed in Bone marrow stromal cell (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DCTN2 Gene



Protein tissue co-expression partners for DCTN2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DCTN2

SOURCE GeneReport for Unigene cluster for DCTN2 Gene:

Hs.289123

Evidence on tissue expression from TISSUES for DCTN2 Gene

  • Nervous system(4.9)
  • Skin(4.7)
  • Liver(4.6)
  • Blood(4.5)
  • Lung(3.9)
  • Intestine(3.8)
  • Kidney(3.7)
  • Eye(3.3)
  • Heart(2.8)
  • Muscle(2.5)
  • Adrenal gland(2.4)
  • Gall bladder(2.3)
  • Pancreas(2.3)
  • Stomach(2.3)
  • Thyroid gland(2.2)
genes like me logo Genes that share expression patterns with DCTN2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DCTN2 Gene

Orthologs for DCTN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DCTN2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DCTN2 30 31
  • 99.83 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DCTN2 30 31
  • 92.6 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DCTN2 30 31
  • 91.56 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dctn2 30 17 31
  • 89.58 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dctn2 30
  • 89.44 (n)
Chicken
(Gallus gallus)
Aves DCTN2 30 31
  • 68.18 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DCTN2 31
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dctn2 30
  • 72.21 (n)
Str.13521 30
African clawed frog
(Xenopus laevis)
Amphibia dctn2-prov 30
Zebrafish
(Danio rerio)
Actinopterygii dctn2 30 31
  • 65.67 (n)
OneToOne
zgc63867 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10368 30
African malaria mosquito
(Anopheles gambiae)
Insecta DCTN2_ANOGA 30
  • 48.2 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Dmn 30 31 32
  • 47.97 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea dnc-2 30 31
  • 44.35 (n)
OneToOne
Species where no ortholog for DCTN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • 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)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice (Oryza sativa)
  • 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)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for DCTN2 Gene

ENSEMBL:
Gene Tree for DCTN2 (if available)
TreeFam:
Gene Tree for DCTN2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DCTN2: view image

Paralogs for DCTN2 Gene

No data available for Paralogs for DCTN2 Gene

Variants for DCTN2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DCTN2 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs774718356 Uncertain Significance: not provided 57,530,751(-) G/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs863223327 Uncertain Significance: Charcot-Marie-Tooth disease 57,535,097(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for DCTN2 Gene

Structural Variations from Database of Genomic Variants (DGV) for DCTN2 Gene

Variant ID Type Subtype PubMed ID
dgv2651n54 CNV loss 21841781
esv2759901 CNV gain 17122850
nsv1053930 CNV loss 25217958
nsv428283 CNV gain 18775914
nsv482992 CNV gain+loss 15286789
nsv559034 CNV loss 21841781
nsv724 CNV insertion 18451855
nsv819927 CNV loss 19587683

Variation tolerance for DCTN2 Gene

Residual Variation Intolerance Score: 52.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.07; 37.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DCTN2 Gene

Human Gene Mutation Database (HGMD)
DCTN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DCTN2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DCTN2 Gene

Disorders for DCTN2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for DCTN2 Gene - From: GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease
  • peroneal muscular atrophy
neuronopathy, distal hereditary motor, type viib
  • harper-young myopathy
distal hereditary motor neuronopathy type 7
  • dhmn7
perry syndrome
  • parkinsonism with alveolar hypoventilation and mental depression
usher syndrome, type i
  • ush1
- elite association - COSMIC cancer census association via MalaCards
Search DCTN2 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with DCTN2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DCTN2 Gene

Publications for DCTN2 Gene

  1. The APC-associated protein EB1 associates with components of the dynactin complex and cytoplasmic dynein intermediate chain. (PMID: 10226031) Berrueta L … Bierer BE (Current biology : CB 1999) 3 4 23
  2. Molecular characterization of the 50-kD subunit of dynactin reveals function for the complex in chromosome alignment and spindle organization during mitosis. (PMID: 8647893) Echeverri CJ … Vallee RB (The Journal of cell biology 1996) 2 3 4
  3. A novel human dynactin-associated protein, dynAP, promotes activation of Akt, and ergosterol-related compounds induce dynAP-dependent apoptosis of human cancer cells. (PMID: 20978158) Kunoh T … Mizukami T (Molecular cancer therapeutics 2010) 3 4
  4. A protein interaction network for Ecm29 links the 26 S proteasome to molecular motors and endosomal components. (PMID: 20682791) Gorbea C … Rechsteiner M (The Journal of biological chemistry 2010) 3 4
  5. Intracellular transport of human immunodeficiency virus type 1 genomic RNA and viral production are dependent on dynein motor function and late endosome positioning. (PMID: 19286658) Lehmann M … Mouland AJ (The Journal of biological chemistry 2009) 3 23

Products for DCTN2 Gene

  • Signalway Proteins for DCTN2

Sources for DCTN2 Gene