Gene Gene information from NCBI Gene database.
Entrez ID 8816
Gene name DDB1 and CUL4 associated factor 5
Gene symbol DCAF5
Synonyms (NCBI Gene)
BCRG2BCRP2D14S1461EWDR22
Chromosome 14
Chromosome location 14q24.1
miRNA miRNA information provided by mirtarbase database.
381
miRTarBase ID miRNA Experiments Reference
MIRT018566 hsa-miR-335-5p Microarray 18185580
MIRT022983 hsa-miR-124-3p Microarray 18668037
MIRT624219 hsa-miR-3127-3p HITS-CLIP 23824327
MIRT624218 hsa-miR-6756-3p HITS-CLIP 23824327
MIRT624217 hsa-miR-6826-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16949367, 19966799, 29691401, 35271311
GO:0005654 Component Nucleoplasm TAS
GO:0005737 Component Cytoplasm IBA
GO:0016567 Process Protein ubiquitination IEA
GO:0045717 Process Negative regulation of fatty acid biosynthetic process IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603812 20224 ENSG00000139990
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96JK2
Protein name DDB1- and CUL4-associated factor 5 (Breakpoint cluster region protein 2) (BCRP2) (WD repeat-containing protein 22)
Protein function Is a substrate receptor for the CUL4-DDB1 E3 ubiquitin-protein ligase complex (CRL4) (PubMed:29691401, PubMed:30442713). The complex CRL4-DCAF5 is involved in the ubiquitination of a set of methylated non-histone proteins, including SOX2, DNMT1
PDB 3I89 , 8TL6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 42 82 WD domain, G-beta repeat Repeat
PF00400 WD40 133 171 WD domain, G-beta repeat Repeat
PF00400 WD40 325 361 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:9740667}.
Sequence
MKRRAGLGGSMRSVVGFLSQRGLHGDPLLTQDFQRRRLRGCRNLYKKDLLGHFGCVNAIE
FSNNGGQWLVSGGDDRRVLLWH
MEQAIHSRVKPIQLKGEHHSNIFCLAFNSGNTKVFSGG
NDEQVILHDVESSETLDVFAHEDAVYGLSVSPVNDNIFASSSDDGRVLIWDIRESPHGEP
FCLANYPSAFHSVMFNPVEPRLLATANSKEGVGLWDIRKPQSSLLRYGGNLSLQSAMSVR
FNSNGTQLLALRRRLPPVLYDIHSRLPVFQFDNQGYFNSCTMKSCCFAGDRDQYILSGSD
DFNLYMWRIPADPEAGGIGRVVNGAFMVLKGHRSIVNQVRFNPHTYMICSSGVEKIIKIW
S
PYKQPGCTGDLDGRIEDDSRCLYTHEEYISLVLNSGSGLSHDYANQSVQEDPRMMAFFD
SLVRREIEGWSSDSDSDLSESTILQLHAGVSERSGYTDSESSASLPRSPPPTVDESADNA
FHLGPLRVTTTNTVASTPPTPTCEDAASRQQRLSALRRYQDKRLLALSNESDSEENVCEV
ELDTDLFPRPRSPSPEDESSSSSSSSSSEDEEELNERRASTWQRNAMRRRQKTTREDKPS
APIKPTNTYIGEDNYDYPQIKVDDLSSSPTSSPERSTSTLEIQPSRASPTSDIESVERKI
YKAYKWLRYSYISYSNNKDGETSLVTGEADEGRAGTSHKDNPAPSSSKEACLNIAMAQRN
QDLPPEGCSKDTFKEETPRTPSNGPGHEHSSHAWAEVPEGTSQDTGNSGSVEHPFETKKL
NGKALSSRAEEPPSPPVPKASGSTLNSGSGNCPRTQSDDSEERSLETICANHNNGRLHPR
PPHPHNNGQNLGELEVVAYSSPGHSDTDRDNSSLTGTLLHKDCCGSEMACETPNAGTRED
PTDTPATDSSRAVHGHSGLKRQRIELEDTDSENSSSEKKLKT
Sequence length 942
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.).
3
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)
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
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Central Nervous System Vascular Malformations Associate 35627254
★☆☆☆☆
Found in Text Mining only