Gene Gene information from NCBI Gene database.
Entrez ID 50717
Gene name DDB1 and CUL4 associated factor 8
Gene symbol DCAF8
Synonyms (NCBI Gene)
GAN2H326WDR42A
Chromosome 1
Chromosome location 1q23.2
Summary 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]
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs587777425 G>A,T Pathogenic Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
575
miRTarBase ID miRNA Experiments Reference
MIRT020276 hsa-miR-130b-3p Sequencing 20371350
MIRT028104 hsa-miR-93-5p Sequencing 20371350
MIRT030174 hsa-miR-26b-5p Sequencing 20371350
MIRT031024 hsa-miR-21-5p Microarray 20048743
MIRT031233 hsa-miR-19b-3p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 16949367, 19060904, 19966799, 22190034, 22500989, 23455924, 24500646, 25416956, 28514442, 31391242, 32814053, 33961781, 35271311
GO:0005634 Component Nucleus IDA 22500989
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005654 Component Nucleoplasm TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615820 24891 ENSG00000132716
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5TAQ9
Protein name DDB1- and CUL4-associated factor 8 (WD repeat-containing protein 42A)
Protein function May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.
PDB 3I8E
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 183 221 WD domain, G-beta repeat Repeat
PF00400 WD40 422 463 WD domain, G-beta repeat Repeat
PF00400 WD40 467 505 WD domain, G-beta repeat Repeat
Sequence
MSSKGSSTDGRTDLANGSLSSSPEEMSGAEEGRETSSGIEVEASDLSLSLTGDDGGPNRT
STESRGTDTESSGEDKDSDSMEDTGHYSINDENRVHDRSEEEEEEEEEEEEEQPRRRVQR
KRANRDQDSSDDERALEDWVSSETSALPRPRWQALPALRERELGSSARFVYEACGARVFV
QRFRLQHGLEGHTGCVNTLHFNQRGTWLASGSDDLKVVVWDWVRRQPVLDFESGHKSNVF
QAKFLPNSGDSTLAMCARDGQVRVAELSATQCCKNTKRVAQHKGASHKLALEPDSPCTFL
SAGEDAVVFTIDLRQDRPASKLVVTKEKEKKVGLYTIYVNPANTHQFAVGGRDQFVRIYD
QRKIDENENNGVLKKFCPHHLVNSESKANITCLVYSHDGTELLASYNDEDIYLFNSSHSD
GAQYVKRYKGHRNNATVKGVNFYGPKSEFVVSGSDCGHIFLWEKSSCQIIQFMEGDKGGV
VNCLEPHPHLPVLATSGLDHDVKIW
APTAEASTELTGLKDVIKKNKRERDEDSLHQTDLF
DSHMLWFLMHHLRQRRHHRRWREPGVGATDADSDESPSSSDTSDEEEGPDRVQCMPS
Sequence length 597
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Neddylation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Giant axonal neuropathy 2 Likely pathogenic rs587777425 RCV000119848
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
DCAF8-related disorder Uncertain significance; Likely benign; Benign rs1327588458, rs201747259, rs2275702, rs16831675, rs144158120, rs142352428 RCV003408462
RCV003961565
RCV003972900
RCV003962873
RCV003950814
RCV003936257
Neurofibromatosis, type 1 Uncertain significance rs745507749 RCV004566514
See cases Uncertain significance rs1372136970 RCV002252655
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 39380996
Carcinoma Non Small Cell Lung Associate 37913652
Cardiomyopathies Associate 24500646