Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DCAF8 Gene

Aliases for DCAF8 Gene

  • DDB1 And CUL4 Associated Factor 8 2 3 5
  • WD Repeat-Containing Protein 42A 3 4
  • WD Repeat Domain 42A 2 3
  • WDR42A 3 4
  • H326 3 4
  • GAN2 3

External Ids for DCAF8 Gene

Previous HGNC Symbols for DCAF8 Gene

  • WDR42A

Previous GeneCards Identifiers for DCAF8 Gene

  • GC01M158453
  • GC01M160185
  • GC01M131542

Summaries for DCAF8 Gene

Entrez Gene Summary for DCAF8 Gene

  • This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]

GeneCards Summary for DCAF8 Gene

DCAF8 (DDB1 And CUL4 Associated Factor 8) is a Protein Coding gene. Diseases associated with DCAF8 include giant axonal neuropathy 2, autosomal dominant and autosomal dominant charcot-marie-tooth disease type 2 with giant axons. An important paralog of this gene is WDTC1.

UniProtKB/Swiss-Prot for DCAF8 Gene

  • May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DCAF8 Gene

Genomics for DCAF8 Gene

Regulatory Elements for DCAF8 Gene

Promoters for DCAF8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DCAF8 on UCSC Golden Path with GeneCards custom track

Genomic Location for DCAF8 Gene

Chromosome:
1
Start:
160,215,715 bp from pter
End:
160,262,560 bp from pter
Size:
46,846 bases
Orientation:
Minus strand

Genomic View for DCAF8 Gene

Genes around DCAF8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DCAF8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DCAF8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DCAF8 Gene

Proteins for DCAF8 Gene

  • Protein details for DCAF8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TAQ9-DCAF8_HUMAN
    Recommended name:
    DDB1- and CUL4-associated factor 8
    Protein Accession:
    Q5TAQ9
    Secondary Accessions:
    • D3DVE6
    • Q12839
    • Q4QQI6
    • Q53F14
    • Q66K50
    • Q68CS7
    • Q96E00

    Protein attributes for DCAF8 Gene

    Size:
    597 amino acids
    Molecular mass:
    66852 Da
    Quaternary structure:
    • Interacts with DDB1, CUL4A and CUL4B. Interacts with KPNA1, KPNB1 and XPO1.
    SequenceCaution:
    • Sequence=AAA16607.1; Type=Frameshift; Positions=117, 123; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DCAF8 Gene

    Alternative splice isoforms for DCAF8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DCAF8 Gene

Proteomics data for DCAF8 Gene at MOPED

Post-translational modifications for DCAF8 Gene

  • Ubiquitination at Lys 236, Lys 363, and Lys 438
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DCAF8 Gene

Domains & Families for DCAF8 Gene

Protein Domains for DCAF8 Gene

Graphical View of Domain Structure for InterPro Entry

Q5TAQ9

UniProtKB/Swiss-Prot:

DCAF8_HUMAN :
  • Belongs to the WD repeat DCAF8 family.
  • Contains 7 WD repeats.
Family:
  • Belongs to the WD repeat DCAF8 family.
Similarity:
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with DCAF8: view

Function for DCAF8 Gene

Molecular function for DCAF8 Gene

UniProtKB/Swiss-Prot Function:
May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.
genes like me logo Genes that share phenotypes with DCAF8: view

Human Phenotype Ontology for DCAF8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for DCAF8 Gene

miRTarBase miRNAs that target DCAF8

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for DCAF8 Gene

Localization for DCAF8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DCAF8 Gene

Nucleus. Cytoplasm. Note=It shuttles between the nucleus and the cytoplasm. Nuclear import is mediated by KPNA1 and KPNB1 under the regulation of nuclear GTPase RAN. Nuclear export to the cytoplasm is XPO1 dependent. {ECO:0000269 PubMed:22500989}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DCAF8 Gene COMPARTMENTS Subcellular localization image for DCAF8 gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for DCAF8 Gene

Pathways & Interactions for DCAF8 Gene

SuperPathways for DCAF8 Gene

No Data Available

UniProtKB/Swiss-Prot Q5TAQ9-DCAF8_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for DCAF8 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for DCAF8 Gene

Drugs & Compounds for DCAF8 Gene

No Compound Related Data Available

Transcripts for DCAF8 Gene

mRNA/cDNA for DCAF8 Gene

(1) REFSEQ mRNAs :
(17) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(18) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DCAF8 Gene

DDB1 and CUL4 associated factor 8:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DCAF8 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c · 3d · 3e · 3f ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g · 6h · 6i ^
SP1:
SP2:
SP3: - - - - - - - -
SP4: - - - - - - - - -
SP5: - - - - - -
SP6: - - - - -
SP7: - - - - - - - -
SP8: - - - - -
SP9: - - - -
SP10: - - - - -
SP11: - - - - - -
SP12: - - - - - - -
SP13: - - - - -
SP14:
SP15: - - - - - - - - - - -
SP16: - - - - - - - - -
SP17: - - - - - - -
SP18: - - - - - - - - -
SP19: - - - - - - -
SP20: - - - - -
SP21: - - - - - -
SP22: - - - - - -
SP23: -
SP24:
SP25:
SP26:
SP27: - -
SP28:
SP29: -

ExUns: 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c ^ 18a · 18b ^ 19a · 19b ^ 20a · 20b
SP1: - - - - - - -
SP2: - - - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24: - -
SP25: -
SP26: - -
SP27:
SP28:
SP29:

Relevant External Links for DCAF8 Gene

GeneLoc Exon Structure for
DCAF8
ECgene alternative splicing isoforms for
DCAF8

Expression for DCAF8 Gene

mRNA expression in normal human tissues for DCAF8 Gene

Protein differential expression in normal tissues from HIPED for DCAF8 Gene

This gene is overexpressed in Lung (15.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DCAF8 Gene



SOURCE GeneReport for Unigene cluster for DCAF8 Gene Hs.632447

genes like me logo Genes that share expression patterns with DCAF8: view

Protein tissue co-expression partners for DCAF8 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for DCAF8 Gene

Orthologs for DCAF8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DCAF8 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DCAF8 35
  • 94.08 (n)
  • 98.82 (a)
-- 36
  • 99 (a)
OneToMany
dog
(Canis familiaris)
Mammalia DCAF8 35
  • 93.29 (n)
  • 98.66 (a)
-- 36
  • 99 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Dcaf8 35
  • 91.69 (n)
  • 96.78 (a)
Dcaf8 16
Dcaf8 36
  • 97 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia DCAF8 35
  • 99.78 (n)
  • 100 (a)
DCAF8 36
  • 100 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Dcaf8 35
  • 92.16 (n)
  • 97.97 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 95 (a)
OneToMany
chicken
(Gallus gallus)
Aves DCAF8 35
  • 79.31 (n)
  • 89.66 (a)
-- 36
  • 89 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 69 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia dcaf8 35
  • 76.3 (n)
  • 84.2 (a)
Str.4021 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.25402 35
zebrafish
(Danio rerio)
Actinopterygii LOC100007924 35
  • 65.07 (n)
  • 64.96 (a)
DCAF8 36
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG8001 36
  • 29 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G45620 35
  • 48.48 (n)
  • 42 (a)
rice
(Oryza sativa)
Liliopsida Os03g0286800 35
  • 52.17 (n)
  • 46.05 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9303 36
  • 56 (a)
OneToMany
Species with no ortholog for DCAF8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DCAF8 Gene

ENSEMBL:
Gene Tree for DCAF8 (if available)
TreeFam:
Gene Tree for DCAF8 (if available)

Paralogs for DCAF8 Gene

Paralogs for DCAF8 Gene

genes like me logo Genes that share paralogs with DCAF8: view

Variants for DCAF8 Gene

Sequence variations from dbSNP and Humsavar for DCAF8 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_071265 Giant axonal neuropathy 2, autosomal dominant (GAN2)
rs2696 -- 160,216,884(-) GAGGG(C/G)AGAAG nc-transcript-variant, utr-variant-3-prime
rs750936 -- 160,237,740(+) TTGCT(A/G)TATTG intron-variant
rs756311 -- 160,235,050(-) AATTA(A/T)TTTAT intron-variant
rs947492 -- 160,246,738(-) TCCCA(A/G)TGTGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DCAF8 Gene

Variant ID Type Subtype PubMed ID
esv2664173 CNV Deletion 23128226
nsv3210 CNV Loss 18451855

Variation tolerance for DCAF8 Gene

Residual Variation Intolerance Score: 33.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.77; 33.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DCAF8 Gene

HapMap Linkage Disequilibrium report
DCAF8
Human Gene Mutation Database (HGMD)
DCAF8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DCAF8 Gene

Disorders for DCAF8 Gene

MalaCards: The human disease database

(4) MalaCards diseases for DCAF8 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
giant axonal neuropathy 2, autosomal dominant
  • hmsn2 with neurofilament accumulations and infrequent giant axons
autosomal dominant charcot-marie-tooth disease type 2 with giant axons
  • autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons
giant axonal neuropathy
  • gan
axonal neuropathy
- elite association - COSMIC cancer census association via MalaCards
Search DCAF8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DCAF8_HUMAN
  • Giant axonal neuropathy 2, autosomal dominant (GAN2) [MIM:610100]: An autosomal dominant peripheral axonal neuropathy characterized by onset of distal sensory impairment with lower extremity muscle weakness and atrophy after the second decade. Clinical features include foot deformities apparent in childhood, and cardiomyopathy in severely affected individuals. Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation. {ECO:0000269 PubMed:24500646}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DCAF8

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DCAF8
genes like me logo Genes that share disorders with DCAF8: view

No data available for Genatlas for DCAF8 Gene

Publications for DCAF8 Gene

  1. A family of diverse Cul4-Ddb1-interacting proteins includes Cdt2, which is required for S phase destruction of the replication factor Cdt1. (PMID: 16949367) Jin J. … Walter J.C. (Mol. Cell 2006) 2 3 4 67
  2. Comparative physical and transcript maps of approximately 1 Mb around loop-tail, a gene for severe neural tube defects on distal mouse chromosome 1 and human chromosome 1q22-q23. (PMID: 11401431) Doudney K. … Stanier P. (Genomics 2001) 2 3
  3. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons. (PMID: 24500646) Klein C.J. … Dyck P.J. (Neurology 2014) 3

Products for DCAF8 Gene

Sources for DCAF8 Gene

Back to Top

Content