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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 502 → 541 WD domain, G-beta repeat Repeat
PF00400 WD40 218 → 256 WD domain, G-beta repeat Repeat
PF00400 WD40 457 → 498 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 Reference Evidence Score
ATYPICAL FEMORAL FRACTURE — GWAS catalog 31006051
★★★★★
★★☆☆☆
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