DCAF12L2 (DDB1 and CUL4 associated factor 12 like 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 340578
Gene name DDB1 and CUL4 associated factor 12 like 2
Gene symbol DCAF12L2
Synonyms (NCBI Gene)
WDR40C
Chromosome X
Chromosome location Xq25
Summary This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD), which may facilitate formation of heterotrimeric or multi-protein co
miRNA miRNA information provided by mirtarbase database.
38
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (38)
miRTarBase ID miRNA Experiments Reference
MIRT525712 hsa-miR-101-3p PAR-CLIP 22012620
MIRT525719 hsa-miR-144-3p PAR-CLIP 22012620
MIRT525718 hsa-miR-499a-3p PAR-CLIP 22012620
MIRT525717 hsa-miR-499b-3p PAR-CLIP 22012620
MIRT525716 hsa-miR-3654 PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
GO ID Ontology Definition Evidence Reference
GO:0080008 Component Cul4-RING E3 ubiquitin ligase complex IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5VW00
Protein name DDB1- and CUL4-associated factor 12-like protein 2 (WD repeat-containing protein 40C)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 185 → 221 WD domain, G-beta repeat Repeat
Sequence 
MAQQQTGSRKRKAPAVEAGAGSSSSQGLAAADGEGPLLPKKQKRPATRRRLVHYLKGREV
GARGPAGLQGFEGELRGYAVQRLPELLTERQLDLGTLNKVFASQWLNARQVVCGTKCNTL
FVVDVQSGHITRIPLMRDKEAGLAQAHQGCGIHAIELNPSKTLLATGGENPNSLAIYQLP
TLDPLCLGDRHGHKDWIFAVAWLSDTVAVSGSRDGTVALWRMDPDMFNGSIAWHSEVGLP
VYAHIRPRDVEAIPRASTNPSNRKVRALAFSGKNQELGAVSLDGYFHLWKARSTLSRLLS
IRLPYCRENVCLTYCDELSLYAVGSQSHVSFLDPRQRQQNIRPLCSREGGTGVRSLSFYQ
HIITVGTGHGSLLFYDIRAQKFLEERASSSLDSMPGPAGRKLKLACGRGWLNQDDVWVNY
FGGMGEFPNALYTHCYNWPEMKLFVAGGPLPSGLHGNYAGLWS
Sequence length 463
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (8)
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
AUTISM SPECTRUM DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (1)
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 37986376 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only