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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
  • DDB1- And CUL4-Associated Factor 8 3
  • 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 Giant Axonal Neuropathy. An important paralog of this gene is ENSG00000258465.

UniProtKB/Swiss-Prot for DCAF8 Gene

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

No data available for CIViC summary , 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

Enhancers for DCAF8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G160095 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.4 +163.0 163013 8.2 HDGF PKNOX1 MLX ARNT WRNIP1 SIN3A ARID4B DMAP1 ZNF2 YY1 ATP1A4 IGSF8 CASQ1 KCNJ10 PEA15 DCAF8 PEX19 PIGM ENSG00000225279 ATP1A2
GH01G160203 1.3 ENCODE dbSUPER 11 +54.8 54787 7.6 HDGF ATF1 AGO1 ZNF133 ARID4B SIN3A FEZF1 DMAP1 GLI4 ZNF2 NCSTN DCAF8 ENSG00000228606 IGSF8 PIGM COPA LOC729867 PEA15
GH01G160314 1.1 dbSUPER 11.1 -52.9 -52871 1.4 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 ZNF207 NCSTN LINC01133 COPA DCAF8 ENSG00000228606 IGSF8 SUMO1P3 NHLH1
GH01G160216 1 ENCODE dbSUPER 11.5 +44.1 44100 3.3 CTCF CEBPG RAD21 ZNF23 ZBTB48 POLR2A PATZ1 SMC3 PRDM10 ZNF548 NCSTN CASQ1 DCAF8 PEX19 ATP1A2 SLAMF8 NHLH1 IGSF8 SNHG28 ENSG00000228606
GH01G160104 1.1 Ensembl ENCODE dbSUPER 10.4 +157.9 157904 1.3 SOX13 SAP130 RARA ZNF121 TCF7 NR2F6 BCL6 SMAD4 KDM1A SPI1 KCNJ9 CASQ1 PEA15 DCAF8 PEX19 PIGM ATP1A4 ENSG00000225279 KCNJ10 IGSF8
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DCAF8 on UCSC Golden Path with GeneCards custom track

Promoters for DCAF8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000014527 360 2001 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 ZNF610

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

Post-translational modifications for DCAF8 Gene

  • Ubiquitination at Lys236, isoforms=363, and Lys438
  • 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.
Family:
  • Belongs to the WD repeat DCAF8 family.
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.

Gene Ontology (GO) - Molecular Function for DCAF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with DCAF8: view
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

CRISPR Products

miRNA for DCAF8 Gene

miRTarBase miRNAs that target DCAF8

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DCAF8

No data available for Enzyme Numbers (IUBMB) , 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
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 DCAF8 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 4

Gene Ontology (GO) - Cellular Components for DCAF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 22500989
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IDA,IEA 22500989
GO:0005739 mitochondrion IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with DCAF8: view

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with DCAF8: view

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

Unigene Clusters for DCAF8 Gene

DDB1 and CUL4 associated factor 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DCAF8

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for DCAF8 Gene



Protein tissue co-expression partners for DCAF8 Gene

NURSA nuclear receptor signaling pathways regulating expression of DCAF8 Gene:

DCAF8

SOURCE GeneReport for Unigene cluster for DCAF8 Gene:

Hs.632447

Evidence on tissue expression from TISSUES for DCAF8 Gene

  • Nervous system(4.9)
  • Skin(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DCAF8 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • ear
  • head
Thorax:
  • heart
  • heart valve
Limb:
  • arm
  • digit
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • toe
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with DCAF8: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia DCAF8 34 35
  • 99.78 (n)
cow
(Bos Taurus)
Mammalia -- 35
  • 99 (a)
OneToMany
DCAF8 34
  • 94.08 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 99 (a)
OneToMany
DCAF8 34
  • 93.29 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 95 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Dcaf8 34
  • 92.16 (n)
mouse
(Mus musculus)
Mammalia Dcaf8 34 16 35
  • 91.69 (n)
chicken
(Gallus gallus)
Aves -- 35
  • 89 (a)
OneToMany
DCAF8 34
  • 79.31 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 69 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia dcaf8 34
  • 76.3 (n)
Str.4021 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.25402 34
zebrafish
(Danio rerio)
Actinopterygii LOC100007924 34
  • 65.07 (n)
DCAF8 35
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG8001 35
  • 29 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G45620 34
  • 48.48 (n)
rice
(Oryza sativa)
Liliopsida Os03g0286800 34
  • 52.17 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9303 35
  • 56 (a)
OneToMany
Species where no ortholog for DCAF8 was found in the sources mined by GeneCards:
  • 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
rs587777425 Pathogenic, Giant axonal neuropathy 2, autosomal dominant (GAN2) [MIM:610100] 160,237,145(+) TGGGC(A/G)GTCTT nc-transcript-variant, reference, missense
rs1057518253 Uncertain significance 160,240,268(-) CTTGA(C/T)TGGGG nc-transcript-variant, reference, missense
rs1000021502 -- 160,257,268(+) CTGCT(G/T)TAAAA intron-variant
rs1000051537 -- 160,250,476(+) AAAAA(A/C)AAAAA intron-variant
rs1000192996 -- 160,253,684(+) AGCAG(G/T)GTGTG intron-variant

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

Variant ID Type Subtype PubMed ID
esv2664173 CNV deletion 23128226
esv3587710 CNV loss 21293372
nsv3210 CNV deletion 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

Human Gene Mutation Database (HGMD)
DCAF8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
giant axonal neuropathy 2, autosomal dominant
  • autosomal dominant charcot-marie-tooth disease type 2 with giant axons
giant axonal neuropathy
  • gan
axonal neuropathy
neuropathy, congenital hypomyelinating
  • dejerine-sottas disease
- 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 64
  2. Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons. (PMID: 24500646) Klein C.J. … Dyck P.J. (Neurology 2014) 3 4 64
  3. A Y2H-seq approach defines the human protein methyltransferase interactome. (PMID: 23455924) Weimann M. … Stelzl U. (Nat. Methods 2013) 3 4 64
  4. Characterization of nuclear import and export signals determining the subcellular localization of WD repeat-containing protein 42A (WDR42A). (PMID: 22500989) Wu F. … Zheng C. (FEBS Lett. 2012) 3 4 64
  5. Molecular architecture and assembly of the DDB1-CUL4A ubiquitin ligase machinery. (PMID: 16964240) Angers S. … Zheng N. (Nature 2006) 3 4 64

Products for DCAF8 Gene

  • Addgene plasmids for DCAF8

Sources for DCAF8 Gene

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