DCTN4 Gene (Protein Coding)

Dynactin Subunit 4

GC05M150708
GIFtS:
40

Aliases for DCTN4 Gene

Aliases for DCTN4 Gene

  • Dynactin Subunit 4 2 3 4 5
  • Dynactin Subunit P62 3 4
  • Dynactin 4 (P62) 2 3
  • Dynactin P62 Subunit 3
  • DYN4 3
  • Dyn4 4
  • P62 3

External Ids for DCTN4 Gene

Previous GeneCards Identifiers for DCTN4 Gene

  • GC05M150157
  • GC05M150685
  • GC05M150116
  • GC05M150068
  • GC05M145234

Summaries for DCTN4 Gene

GeneCards Summary for DCTN4 Gene

DCTN4 (Dynactin Subunit 4) is a Protein Coding gene. Diseases associated with DCTN4 include Cystic Fibrosis and Discharging Ear. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include protein N-terminus binding.

UniProtKB/Swiss-Prot Summary for DCTN4 Gene

  • Could have a dual role in dynein targeting and in ACTR1A/Arp1 subunit of dynactin pointed-end capping. Could be involved in ACTR1A pointed-end binding and in additional roles in linking dynein and dynactin to the cortical cytoskeleton.

Additional gene information for DCTN4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DCTN4 Gene

Genomics for DCTN4 Gene

GeneHancer (GH) Regulatory Elements for DCTN4 Gene

Promoters and enhancers for DCTN4 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
GH05J150777 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 502.4 -22.0 -22008 8.1 ZNF217 CTCF ZSCAN5C NRF1 POLR2G SP1 JUND FOS TEAD4 ZNF10 SMIM3 DCTN4 RBM22 RPL7P1 TNIP1 RPS14 CCDC69 ANXA6 CD74 piR-56037-016
GH05J150756 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +0.7 729 3.3 ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 TCF12 MYC POLR2G USF1 DCTN4 lnc-RBM22-4 SMIM3 TCOF1 ZNF300P1 CCDC69 RPL7P1 RPS14 piR-58308-277 RF00017-5007
GH05J150776 Promoter/Enhancer 0.7 EPDnew dbSUPER 500.4 -17.1 -17072 0.1 NR4A1 FOXJ2 SMIM3 DCTN4 RF00017-5007
GH05J150699 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 11 +58.3 58336 2.9 EP300 ZBTB40 ZNF217 CTCF SIN3A NRF1 TCF12 POLR2G SP1 GTF2E2 RBM22 lnc-MYOZ3-2 RPS14 HMGXB3 RPL7P1 ENSG00000250309 MYOZ3 DCTN4 SMIM3 ZNF300
GH05J150788 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 14.6 -31.0 -30982 3.6 JUND FOS POLR2A RCOR1 RBM25 BCL11A ZBTB17 CBFB FOSL1 CHD1 ZNF300P1 DCTN4 TNIP1 RBM22 SMIM3 CCDC69 CD74 piR-56037-016 RF00017-5007
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DCTN4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DCTN4

Top Transcription factor binding sites by QIAGEN in the DCTN4 gene promoter:
  • AhR
  • AREB6
  • Arnt
  • CREB
  • Zic1

Genomic Locations for DCTN4 Gene

Genomic Locations for DCTN4 Gene
chr5:150,708,440-150,759,109
(GRCh38/hg38)
Size:
50,670 bases
Orientation:
Minus strand
chr5:150,088,002-150,138,671
(GRCh37/hg19)
Size:
50,670 bases
Orientation:
Minus strand

Genomic View for DCTN4 Gene

Genes around DCTN4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DCTN4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DCTN4 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DCTN4 Gene

Proteins for DCTN4 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for DCTN4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UJW0-DCTN4_HUMAN
    Recommended name:
    Dynactin subunit 4
    Protein Accession:
    Q9UJW0
    Secondary Accessions:
    • B3KWW0
    • D3DQH0
    • E5RGT5
    • Q8TAN8

    Protein attributes for DCTN4 Gene

    Size:
    460 amino acids
    Molecular mass:
    52337 Da
    Quaternary structure:
    • Member of the pointed-end complex of the dynactin shoulder complex which contains DCTN4, DCTN5 and DCTN6 subunits and ACTR10 (By similarity). Binds directly to the ACTR1A subunit of dynactin. Interacts with ATP7B, but not ATP7A, in a copper-dependent manner. Interacts with ANK2; this interaction is required for localization at costameres (By similarity).

    Alternative splice isoforms for DCTN4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DCTN4 Gene

Protein Expression for DCTN4 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for DCTN4 Gene

  • Ubiquitination at Lys146 and Lys181
  • Modification sites at PhosphoSitePlus

Other Protein References for DCTN4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DCTN4 Gene

Domains & Families for DCTN4 Gene

Gene Families for DCTN4 Gene

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

Protein Domains for DCTN4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DCTN4 Gene

GenScript: Design optimal peptide antigens:
  • Dynactin subunit p62 (DCTN4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UJW0

UniProtKB/Swiss-Prot:

DCTN4_HUMAN :
  • Belongs to the dynactin subunit 4 family.
Family:
  • Belongs to the dynactin subunit 4 family.
genes like me logo Genes that share domains with DCTN4: view

Function for DCTN4 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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  6. Cell Line

Molecular function for DCTN4 Gene

UniProtKB/Swiss-Prot Function:
Could have a dual role in dynein targeting and in ACTR1A/Arp1 subunit of dynactin pointed-end capping. Could be involved in ACTR1A pointed-end binding and in additional roles in linking dynein and dynactin to the cortical cytoskeleton.

Phenotypes From GWAS Catalog for DCTN4 Gene

Gene Ontology (GO) - Molecular Function for DCTN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21516116
GO:0047485 protein N-terminus binding IPI 16554302
genes like me logo Genes that share ontologies with DCTN4: view
genes like me logo Genes that share phenotypes with DCTN4: view

Human Phenotype Ontology for DCTN4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DCTN4

Clone Products

  • Addgene plasmids for DCTN4

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for DCTN4 Gene

Localization for DCTN4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DCTN4 Gene

Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, stress fiber. Cytoplasm, cell cortex. Cytoplasm, myofibril, sarcomere. Note=Has a punctate cytoplasmic distribution as well as centrosomal distribution typical of dynactin (PubMed:10671518). Overexpression in cultured mammalian cells revealed colocalization with cortical actin, stress fibers, and focal adhesion sites, sites of potential interaction between microtubules and the cell cortex (By similarity). In skeletal muscles, costamere localization requires the presence of ANK2 (By similarity). {ECO:0000250 UniProtKB:Q8CBY8, ECO:0000250 UniProtKB:Q9QUR2, ECO:0000269 PubMed:10671518}.

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 DCTN4 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DCTN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 kinetochore IEA --
GO:0000922 spindle pole IEA --
GO:0001725 stress fiber IEA --
GO:0005634 nucleus TAS 10671518
GO:0005737 cytoplasm TAS 10671518
genes like me logo Genes that share ontologies with DCTN4: view

Pathways & Interactions for DCTN4 Gene

genes like me logo Genes that share pathways with DCTN4: view

Pathways by source for DCTN4 Gene

2 GeneGo (Thomson Reuters) pathways for DCTN4 Gene
  • Cell cycle_Spindle assembly and chromosome separation
  • Cytoskeleton remodeling Neurofilaments

Gene Ontology (GO) - Biological Process for DCTN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
genes like me logo Genes that share ontologies with DCTN4: view

No data available for SIGNOR curated interactions for DCTN4 Gene

Drugs & Compounds for DCTN4 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for DCTN4 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for DCTN4 Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
15 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 DCTN4

Clone Products

  • Addgene plasmids for DCTN4

Alternative Splicing Database (ASD) splice patterns (SP) for DCTN4 Gene

No ASD Table

Relevant External Links for DCTN4 Gene

GeneLoc Exon Structure for
DCTN4

Expression for DCTN4 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DCTN4 Gene

mRNA expression in normal human tissues for DCTN4 Gene
mRNA expression by BioGPS for DCTN4 GenemRNA expression by GTEx for DCTN4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DCTN4 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (6.6) and Islet of Langerhans (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DCTN4 Gene



Protein tissue co-expression partners for DCTN4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DCTN4

SOURCE GeneReport for Unigene cluster for DCTN4 Gene:

Hs.675564

Evidence on tissue expression from TISSUES for DCTN4 Gene

  • Nervous system(5)
  • Lung(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DCTN4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • bronchus
  • heart
  • lung
Abdomen:
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • anus
  • rectum
  • testicle
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with DCTN4: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for DCTN4 Gene

Orthologs for DCTN4 Gene

This gene was present in the common ancestor of animals.

Orthologs for DCTN4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia DCTN4 31 30
  • 99.71 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia DCTN4 31 30
  • 94.28 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia DCTN4 31
  • 94 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia DCTN4 31 30
  • 93.26 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Dctn4 30
  • 89.93 (n)
mouse
(Mus musculus)
 Mammalia Dctn4 17 31 30
  • 89.64 (n)
chicken
(Gallus gallus)
 Aves DCTN4 31 30
  • 80.22 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia DCTN4 31
  • 91 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia dctn4 30
  • 76.09 (n)
zebrafish
(Danio rerio)
 Actinopterygii dctn4 31 30
  • 75.25 (n)
 OneToOne
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.6759 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP000908 30
  • 53.18 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG12042 31 32 30
  • 50.81 (n)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea dnc-4 31 30
  • 45.5 (n)
 OneToOne
C26B2.1 32
  • 28 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 37 (a)
 OneToOne
Species where no ortholog for DCTN4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 DCTN4 Gene

ENSEMBL:
Gene Tree for DCTN4 (if available)
TreeFam:
Gene Tree for DCTN4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DCTN4: view image

Paralogs for DCTN4 Gene

(1) SIMAP similar genes for DCTN4 Gene using alignment to 5 proteins:

  • DCTN4_HUMAN
  • E5RGG1_HUMAN
  • E5RI97_HUMAN
  • E5RK21_HUMAN
  • H9KVE0_HUMAN
genes like me logo Genes that share paralogs with DCTN4: view

No data available for Paralogs for DCTN4 Gene

Variants for DCTN4 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DCTN4 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
712579 Benign: not provided 150,715,603(-) A/G SYNONYMOUS_VARIANT
776079 Benign: not provided 150,711,239(-) G/T SYNONYMOUS_VARIANT
792017 Benign: not provided 150,719,764(-) A/G SYNONYMOUS_VARIANT
rs11550931 - p.Pro95Thr
rs11954652 - p.Phe342Leu

Additional dbSNP identifiers (rs#s) for DCTN4 Gene

Structural Variations from Database of Genomic Variants (DGV) for DCTN4 Gene

Variant ID Type Subtype PubMed ID
esv2730916 CNV deletion 23290073
esv2759386 CNV loss 17122850
esv33898 CNV loss 17666407
nsv1128200 CNV deletion 24896259
nsv1137038 CNV deletion 24896259
nsv428129 CNV loss 18775914
nsv5066 CNV deletion 18451855

Variation tolerance for DCTN4 Gene

Residual Variation Intolerance Score: 16.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.48; 88.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DCTN4 Gene

Human Gene Mutation Database (HGMD)
DCTN4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DCTN4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DCTN4 Gene

Disorders for DCTN4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for DCTN4 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cystic fibrosis
  • cf
discharging ear
alzheimer's disease 1
  • alzheimer's disease 1, early onset
- elite association - COSMIC cancer census association via MalaCards
Search DCTN4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DCTN4

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DCTN4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DCTN4 Gene

Publications for DCTN4 Gene

  1. Copper-dependent interaction of dynactin subunit p62 with the N terminus of ATP7B but not ATP7A. (PMID: 16554302) Lim CM … La Fontaine S (The Journal of biological chemistry 2006) 2 3 4 23 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. A dynactin subunit with a highly conserved cysteine-rich motif interacts directly with Arp1. (PMID: 10671518) Karki S … Holzbaur EL (The Journal of biological chemistry 2000) 3 4 54
  5. Transcription mapping of the 5q- syndrome critical region: cloning of two novel genes and sequencing, expression, and mapping of a further six novel cDNAs. (PMID: 10843801) Boultwood J … Wainscoat JS (Genomics 2000) 2 3 54

ExternalLinks

View latest publications for DCTN4 gene in Mastermind

Products for DCTN4 Gene

  • Addgene plasmids for DCTN4

Sources for DCTN4 Gene