DCTN2 dynactin subunit 2 [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
DCTN2 is required in the earliest stages of peroxisome biogenesis.
Title: Requirement for microtubules and dynein motors in the earliest stages of peroxisome biogenesis.
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.

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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	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

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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

RH70660 (e-PCR)
- UniSTS:18250

STS-U50733 (e-PCR)
- UniSTS:53584

G64804 (e-PCR)
- UniSTS:164775

DCTN2 (e-PCR)
- UniSTS:504052

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 more info	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

NG_047120.1 RefSeqGene

Range

5140..22281

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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
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