Gene Gene information from NCBI Gene database.
Entrez ID 25853
Gene name DDB1 and CUL4 associated factor 12
Gene symbol DCAF12
Synonyms (NCBI Gene)
CT102KIAA1892TCC52WDR40A
Chromosome 9
Chromosome location 9p13.3
Summary This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. [provided by RefSeq, Jul 20
miRNA miRNA information provided by mirtarbase database.
432
miRTarBase ID miRNA Experiments Reference
MIRT020403 hsa-miR-29c-3p Sequencing 20371350
MIRT021915 hsa-miR-128-3p Sequencing 20371350
MIRT023421 hsa-miR-30b-5p Sequencing 20371350
MIRT025714 hsa-miR-7-5p Sequencing 20371350
MIRT048996 hsa-miR-92a-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16949367, 19966799, 35271311
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IDA 34065512
GO:0005737 Component Cytoplasm IDA 18957058
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620087 19911 ENSG00000198876
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5T6F0
Protein name DDB1- and CUL4-associated factor 12 (Centrosome-related protein TCC52) (Testis cancer centrosome-related protein) (WD repeat-containing protein 40A)
Protein function Substrate-recognition component of a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex of the DesCEND (destruction via C-end degrons) pathway, which recognizes a C-degron located at the extreme C terminus of target proteins, leading to t
PDB 3I7P , 8AJM , 8AJN , 8AJO , 8T9A
Family and domains
Tissue specificity TISSUE SPECIFICITY: Highly expressed in lung cancer tissues and some cancer cell lines (PubMed:18957058). Restricted expression in normal testis (PubMed:18957058). {ECO:0000269|PubMed:18957058}.
Sequence
MARKVVSRKRKAPASPGAGSDAQGPQFGWDHSLHKRKRLPPVKRSLVYYLKNREVRLQNE
TSYSRVLHGYAAQQLPSLLKEREFHLGTLNKVFASQWLNHRQVVCGTKCNTLFVVDVQTS
QITKIPILKDREPGGVTQQGCGIHAIELNPSRTLLATGGDNPNSLAIYRLPTLDPVCVGD
DGHKDWIFSIAWISDTMAVSGSRDGSMGLWEVTDDVLTKSDARHNVSRVPVYAHITHKAL
KDIPKEDTNPDNCKVRALAFNNKNKELGAVSLDGYFHLWKAENTLSKLLSTKLPYCRENV
CLAYGSEWSVYAVGSQAHVSFLDPRQPSYNVKSVCSRERGSGIRSVSFYEHIITVGTGQG
SLLFYDIRAQRFLEERLSACYGSKPRLAGENLKLTTGKGWLNHDETWRNYFSDIDFFPNA
VYTHCYDSSGTKLFVAGGPLPSGLHGNYAGLWS
Sequence length 453
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRCAX BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
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
Carcinoma of larynx Laryngeal carcinoma BEFREE 18957058
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 18957058
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma BEFREE 18957058
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma Pubtator 18957058 Associate
★☆☆☆☆
Found in Text Mining only
Laryngeal Neoplasms Laryngeal neoplasm Pubtator 18957058 Associate
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 18957058 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of larynx Larynx cancer BEFREE 18957058
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of lung Lung Cancer BEFREE 18957058
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer BEFREE 18957058
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of testis Malignant Neoplasm Of Testis BEFREE 18957058
★☆☆☆☆
Found in Text Mining only