Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
50717
Gene name Gene Name - the full gene name approved by the HGNC.
DDB1 and CUL4 associated factor 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DCAF8
Synonyms (NCBI Gene) Gene synonyms aliases
GAN2, H326, WDR42A
Disease Acronyms (UniProt) Disease acronyms from UniProt database
GAN2
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q23.2
Summary Summary of gene provided in NCBI Entrez 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]
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 16949367, 19060904, 19966799, 22190034, 22500989, 23455924, 25416956, 28514442, 31391242
GO:0005634 Component Nucleus IDA 22500989
GO:0005654 Component Nucleoplasm IDA
GO:0005654 Component Nucleoplasm TAS
GO:0005737 Component Cytoplasm IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
615820 24891 ENSG00000132716
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cardiomyopathy Cardiomyopathies rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)
Giant axonal neuropathy Giant Axonal Neuropathy, Autosomal Dominant, GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT rs119485088, rs119485090, rs587777425, rs747291494, rs1555511978, rs1555511093, rs1555511861, rs771785420, rs1300267158, rs370358470, rs1181977802, rs746486469, rs1597407138, rs1597401738 24500646
Unknown
Disease term Disease name Evidence References Source
Distal amyotrophy Distal amyotrophy ClinVar
Peripheral axonal neuropathy Peripheral axonal neuropathy ClinVar
Giant Axonal Neuropathy giant axonal neuropathy 2 GenCC
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 39380996
Carcinoma Non Small Cell Lung Associate 37913652
Cardiomyopathies Associate 24500646