Gene Gene information from NCBI Gene database.
Entrez ID 347442
Gene name DDB1 and CUL4 associated factor 8 like 2
Gene symbol DCAF8L2
Synonyms (NCBI Gene)
WDR42C
Chromosome X
Chromosome location Xp21.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IBA
GO:0080008 Component Cul4-RING E3 ubiquitin ligase complex IBA
GO:0080008 Component Cul4-RING E3 ubiquitin ligase complex IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P0C7V8
Protein name DDB1- and CUL4-associated factor 8-like protein 2 (WD repeat-containing protein 42C)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 218 256 WD domain, G-beta repeat Repeat
PF00400 WD40 457 498 WD domain, G-beta repeat Repeat
PF00400 WD40 502 541 WD domain, G-beta repeat Repeat
Sequence
MSHQEGSTDGLPDLGTESLFSSPEEQSGAVAATEASSDIDIATSELSVTVTGDGSDSRDG
GFPNDASTENRSSDQESASEDIELESLEDFEHFLMSGESLFHYPLVGEEETEREEEDEEI
QEEGGEEEEEEEEEEEEEEEEEEEEEEQPRAGPQGSGGNHEQYSLEEDQALEEWVSSETS
ALPRPRWQVVTALHQRQLGSRPRFVYEACGARAFVQRFRLQYRLADHVGCVNTVHFNQRG
TRLASSGDDLKVIVWD
WVRQRPVLNFESGHTNNVFQAKFLPNCGDSTLAMCARDGQVRVA
ELINASYFNNTKCVAQHRGPAHKLALEPDSPYKFLTSGEDAVVFTIDLRQDRPASKVVVT
RENDKKVGLYTITVNPANTYQFAVGGQDQFVRIYDQRKIDKKENNGVLKKFTPHHLVNCD
FPTNITCVVYSHDGTELLASYNDDDIYLFNSSHSDGAQYSKRFKGHRNNTTVKGVNFYGP
RSEFVVSGSDCGHIFFWE
KSSCQIIQFLKGSREGTINCLEPHPYLPVLACSGLDHDVKIW
T
PTAKAATELTGLKKVIKKNKWERDEDSLHHGSLFDQYMLWFLLRHVTQRGRHQDWRSGE
AEFPDEESDESSSTSETSEEEVQDRVQCMPS
Sequence length 631
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
ATYPICAL FEMORAL FRACTURE 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
Breast Neoplasms Breast neoplasm Pubtator 35487060 Associate
★☆☆☆☆
Found in Text Mining only