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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Giant axonal neuropathy 2 Likely pathogenic rs587777425 RCV000119848
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2 WITH GIANT AXONS Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DCAF8-related disorder Uncertain significance; Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GIANT AXONAL NEUROPATHY, AUTOSOMAL DOMINANT CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons Charcot-Marie-Tooth Disease With Giant Axons Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 39380996 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy BEFREE 24500646
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy Pubtator 24500646 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy HPO_DG
★☆☆☆☆
Found in Text Mining only
Distal amyotrophy Distal amyotrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT Giant Axonal Neuropathy UNIPROT_DG 24500646
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT Giant Axonal Neuropathy GENOMICS_ENGLAND_DG 24500646
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT Giant Axonal Neuropathy ORPHANET_DG 24500646
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT Giant Axonal Neuropathy CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations