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Aliases for DCTN2 Gene

Aliases for DCTN2 Gene

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

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 Usher Syndrome, Type I. Among its related pathways are Cell Cycle, Mitotic and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include motor activity and spectrin binding.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for DCTN2 Gene

Genomics for DCTN2 Gene

GeneHancer (GH) Regulatory Elements for DCTN2 Gene

Promoters and enhancers for DCTN2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J057546 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 664 +0.6 577 2.2 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A DMAP1 YBX1 YY1 POLR2B DCTN2 DDIT3
GH12J057516 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 14.3 +26.2 26242 8.8 CLOCK FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 MBD6 DDIT3 ENSG00000285133 MIR616 NEMP1 BAZ2A RN7SL809P ZBTB39 EEF1AKMT3 DTX3
GH12J057487 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 13.4 +58.7 58668 2.9 HDGF PKNOX1 SMAD1 ARID4B SIN3A FEZF1 DMAP1 YY1 POLR2B ZNF766 ARHGAP9 MARS BAZ2A NEMP1 PRIM1 MBD6 ZBTB39 RN7SL809P DCTN2 EEF1AKMT3
GH12J057475 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.3 +68.4 68435 6.8 HDGF SMAD1 RB1 NFRKB ZNF766 EGR1 ZNF143 ATF7 ETV6 BCLAF1 ARHGAP9 DCTN2 NEMP1 MARS ATP23
GH12J057579 Enhancer 0.8 ENCODE 16.3 -32.5 -32549 0.8 ELF3 FOXA2 ARID4B DMAP1 ETS1 ATF7 CREM ELF1 KAT8 SSRP1 DCTN2 DTX3 ARHGEF25 SLC26A10 ENSG00000224713 KIF5A B4GALNT1 TSPAN31 AGAP2 MBD6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DCTN2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DCTN2 gene promoter:

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)

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; Positions=381; 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 Lys175, posLast=146146, and Lys140
  • 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

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DCTN2 Gene

GenScript: Design optimal peptide antigens:

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

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

miRNA for DCTN2 Gene

miRTarBase miRNAs that target DCTN2

Clone Products

  • Addgene plasmids for DCTN2

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
extracellular 5
cytoskeleton 5
cytosol 5
nucleus 3
golgi apparatus 3
endosome 2
plasma membrane 1
endoplasmic reticulum 1
lysosome 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:0005737 cytoplasm IBA --
GO:0005813 centrosome IDA 8647893
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol TAS --
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

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:0000278 mitotic cell cycle IMP 8647893
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007017 microtubule-based process IEA --
GO:0007052 mitotic spindle organization IBA --
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

Unigene Clusters for DCTN2 Gene

Dynactin 2 (p50):
Representative Sequences:

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
DCTN2

Expression for DCTN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of DCTN2 Gene:

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(4.6)
  • Liver(4.5)
  • Blood(4.3)
  • Lung(3.8)
  • Intestine(3.6)
  • Kidney(3.3)
  • Eye(2.7)
  • Gall bladder(2.3)
  • Pancreas(2.3)
  • Stomach(2.3)
  • Heart(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 34 33
  • 99.83 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DCTN2 34 33
  • 92.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DCTN2 34 33
  • 91.56 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dctn2 16 34 33
  • 89.58 (n)
rat
(Rattus norvegicus)
Mammalia Dctn2 33
  • 89.44 (n)
chicken
(Gallus gallus)
Aves DCTN2 34 33
  • 68.18 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DCTN2 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dctn2 33
  • 72.21 (n)
Str.13521 33
African clawed frog
(Xenopus laevis)
Amphibia dctn2-prov 33
zebrafish
(Danio rerio)
Actinopterygii dctn2 34 33
  • 65.67 (n)
OneToOne
zgc63867 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10368 33
African malaria mosquito
(Anopheles gambiae)
Insecta DCTN2_ANOGA 33
  • 48.2 (n)
fruit fly
(Drosophila melanogaster)
Insecta Dmn 34 35 33
  • 47.97 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea dnc-2 34 33
  • 44.35 (n)
OneToOne
Species where no ortholog for DCTN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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 from dbSNP and Humsavar for DCTN2 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs863223327 uncertain-significance, Charcot-Marie-Tooth disease 57,535,097(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000362429 -- 57,548,608(-) A/G upstream_transcript_variant
rs1001001143 -- 57,538,972(-) T/C intron_variant
rs1001058228 -- 57,536,430(-) C/T intron_variant
rs1001128732 -- 57,546,539(-) G/A intron_variant

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

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

Disorder Aliases PubMed IDs
charcot-marie-tooth disease
  • charcot marie tooth muscular atrophy
usher syndrome, type i
  • ush1
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search DCTN2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DCTN2

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 22 58
  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 58
  3. 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 58
  4. 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 58
  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 22 58

Products for DCTN2 Gene

Sources for DCTN2 Gene

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