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DCTN2 dynactin subunit 2 [ Homo sapiens (human) ]

Gene ID: 10540, updated on 3-Apr-2024

Summary

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Official Symbol
DCTN2provided by HGNC
Official Full Name
dynactin subunit 2provided by HGNC
Primary source
HGNC:HGNC:2712
See related
Ensembl:ENSG00000175203 MIM:607376; AllianceGenome:HGNC:2712
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RBP50; DCTN50; HEL-S-77; DYNAMITIN
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, 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]
Expression
Ubiquitous expression in brain (RPKM 42.2), esophagus (RPKM 36.9) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
12q13.3
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57530051..57547192, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57498291..57515431, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57923834..57940975, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene methionyl-tRNA synthetase 1 Neighboring gene uncharacterized LOC128125814 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:57913133-57914094 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:57914069-57915268 Neighboring gene microRNA 6758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57916016-57916975 Neighboring gene DNA damage inducible transcript 3 Neighboring gene microRNA 616 Neighboring gene methyl-CpG binding domain protein 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6548 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57944162-57944754 Neighboring gene kinesin family member 5A Neighboring gene ReSE screen-validated silencer GRCh37_chr12:57955995-57956161 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:57956855-57957072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6549 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:57984713-57985214 Neighboring gene phosphatidylinositol-5-phosphate 4-kinase type 2 gamma

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Molecular and functional basis for the scaffolding role of the p50/dynamitin subunit of the microtubule-associated dynactin complex. Jacquot G, et al. J Biol Chem, 2010 Jul 23. PMID 20463029, Free PMC Article
  2. Dynamitin mutagenesis reveals protein-protein interactions important for dynactin structure. Maier KC, et al. Traffic, 2008 Apr. PMID 18182012, Free PMC Article
  3. Phenotypic changes associated with DYNACTIN-2 (DCTN2) over expression characterise SJSA-1 osteosarcoma cells. Bransfield KL, et al. Mol Carcinog, 2006 Mar. PMID 16369996
  4. Binding between ROCK1 and DCTN2 triggers diabetes‑associated centrosome amplification in colon cancer cells. Li YF, et al. Oncol Rep, 2021 Jul. PMID 34080666, Free PMC Article
  5. Dynamitin affects cell-surface expression of voltage-gated sodium channel Nav1.5. Chatin B, et al. Biochem J, 2014 Nov 1. PMID 25088759

See all (161) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Binding between ROCK1 and DCTN2 triggers diabetesassociated centrosome amplification in colon cancer cells.
    Title: Binding between ROCK1 and DCTN2 triggers diabetes‑associated centrosome amplification in colon cancer cells.
  2. This is the first time a haplotype on chromosome 12 containing sequence variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A has been linked to an inherited neuropathy in humans.
    Title: Variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A are associated with intermediate Charcot-Marie-Tooth disease in a Norwegian family.
  3. dynamitin is involved in the regulation of Nav1.5 cell-surface density
    Title: Dynamitin affects cell-surface expression of voltage-gated sodium channel Nav1.5.
  4. the determinants of p50/DM required for self-oligomerization of the protein and for interactions with other subunits of the dynactin complex
    Title: Molecular and functional basis for the scaffolding role of the p50/dynamitin subunit of the microtubule-associated dynactin complex.
  5. The interaction between ZW10 and dynamitin showed that the N-terminal region of ZW10 is the major binding site for dynamitin and, like full-length ZW10, could move along microtubules to the centrosomal area in a dynein-dynactin-dependent manner.
    Title: N-terminal region of ZW10 serves not only as a determinant for localization but also as a link with dynein function.
  6. Data show how dynamitin's different structural domains contribute to its ability to self-associate, interact with dynactin and assemble into a complex with its close binding partner, p24.
    Title: Dynamitin mutagenesis reveals protein-protein interactions important for dynactin structure.
  7. the Sec23p component of the COPII complex directly interacts with the dynactin complex through the carboxy-terminal cargo-binding domain of p150(Glued).
    Title: Coupling of ER exit to microtubules through direct interaction of COPII with dynactin.
  8. study does not support a major role for DCTN2 overexpression in carcinogenesis
    Title: Phenotypic changes associated with DYNACTIN-2 (DCTN2) over expression characterise SJSA-1 osteosarcoma cells.
  9. DCTN2 is required in the earliest stages of peroxisome biogenesis.
    Title: Requirement for microtubules and dynein motors in the earliest stages of peroxisome biogenesis.
  10. Altered levels of Cep135 and p50 by RNAi and protein overexpression caused the release of endogenous partner molecules from centrosomes.
    Title: Interaction of Cep135 with a p50 dynactin subunit in mammalian centrosomes.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Charcot-Marie-Tooth disease
MedGen: C0007959 GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag Overexpression of p50/dynamitin leads to a marked relocalization of vRNA and viral structural protein Gag to the cell periphery with late endosomes and a several fold increase in HIV-1 production PubMed
capsid gag Over-expression of p50/dynamitin results in upregulated amounts of pelletable HIV-1 CA cores in infected cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein kinase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables spectrin binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in melanosome transport IEA
Inferred from Electronic Annotation
more info
  
involved_in mitotic metaphase chromosome alignment IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitotic spindle organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitotic spindle organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitotic spindle organization ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within protein localization to centrosome IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
part_of dynactin complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of dynactin complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of dynein complex IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular exosome HDA PubMed 
located_in growth cone IEA
Inferred from Electronic Annotation
more info
  
located_in kinetochore IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in microtubule IEA
Inferred from Electronic Annotation
more info
  
located_in vesicle IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
dynactin subunit 2
Names
50 kDa dynein-associated polypeptide
dynactin 2 (p50)
dynactin complex 50 kDa subunit
epididymis secretory protein Li 77
epididymis secretory sperm binding protein
p50 dynamitin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_047120.1 RefSeqGene

    Range
    5140..22281
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001261412.2 → NP_001248341.1  dynactin subunit 2 isoform 2

    See identical proteins and their annotated locations for NP_001248341.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AK098794, DB027733, DB569305
    Consensus CDS
    CCDS73489.1
    UniProtKB/TrEMBL
    Q53H88
    Related
    ENSP00000439376.2, ENST00000543672.6
    Conserved Domains (1) summary
    pfam04912
    Location:16 → 401
    Dynamitin; Dynamitin

  2. NM_001261413.2 → NP_001248342.1  dynactin subunit 2 isoform 3

    See identical proteins and their annotated locations for NP_001248342.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two exons in the 5' coding region but maintains the reading frame, compared to variant 1. The resulting isoform (3) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    BC009468, DB027733, DB569305
    Consensus CDS
    CCDS58245.1
    UniProtKB/Swiss-Prot
    B2RBK5, Q13561, Q86YN2, Q9BW17
    UniProtKB/TrEMBL
    A0A384MDU9, Q53H88
    Related
    ENSP00000447824.1, ENST00000548249.6
    Conserved Domains (1) summary
    pfam04912
    Location:16 → 399
    Dynamitin; Dynamitin

  3. NM_001348065.2 → NP_001334994.1  dynactin subunit 2 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC022506
    UniProtKB/TrEMBL
    Q53H88
    Conserved Domains (1) summary
    pfam04912
    Location:59 → 444
    Dynamitin

  4. NM_001348066.2 → NP_001334995.1  dynactin subunit 2 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC022506, AK096242
    UniProtKB/TrEMBL
    B3KTX4
    Conserved Domains (1) summary
    pfam04912
    Location:6 → 376
    Dynamitin

  5. NM_001348067.2 → NP_001334996.1  dynactin subunit 2 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variant 7, encodes isoform 6.
    Source sequence(s)
    AC022506, AK292364
    Consensus CDS
    CCDS91711.1
    UniProtKB/TrEMBL
    A8K8J9, H0YI98
    Conserved Domains (1) summary
    pfam04912
    Location:2 → 312
    Dynamitin; Dynamitin

  6. NM_001348068.2 → NP_001334997.1  dynactin subunit 2 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variant 6, encodes isoform 6.
    Source sequence(s)
    AC022506
    Consensus CDS
    CCDS91711.1
    UniProtKB/TrEMBL
    A8K8J9, H0YI98
    Related
    ENSP00000504380.1, ENST00000678653.1
    Conserved Domains (1) summary
    pfam04912
    Location:2 → 312
    Dynamitin; Dynamitin

  7. NM_006400.5 → NP_006391.1  dynactin subunit 2 isoform 1

    See identical proteins and their annotated locations for NP_006391.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AC022506
    Consensus CDS
    CCDS44930.1
    UniProtKB/TrEMBL
    Q53H88, V9HW58
    Related
    ENSP00000408910.3, ENST00000434715.7
    Conserved Domains (1) summary
    pfam04912
    Location:16 → 404
    Dynamitin

RNA

  1. NR_145419.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC022506
    Related
    ENST00000552390.6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    57530051..57547192 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047428084.1 → XP_047284040.1  dynactin subunit 2 isoform X1

    Related
    ENSP00000446964.1, ENST00000550201.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    57498291..57515431 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054370781.1 → XP_054226756.1  dynactin subunit 2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13561.4 GenPept UniProtKB/Swiss-Prot:Q13561

Gene LinkOut

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