DCAF12L2 (DDB1 and CUL4 associated factor 12 like 2)

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Gene Gene information from NCBI Gene database.
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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.
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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
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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.
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MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
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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.).
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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.
Show/Hide Unknown Diseases (8)
Phenotype Name Clinical Significance Source Reference Evidence Score
AUTISM SPECTRUM DISORDER — GWAS catalog 34069769
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE — GWAS catalog 34727735
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT — GWAS catalog 39406924
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER — GWAS catalog 30842574
★★★★★
★★☆☆☆
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 37986376 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
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FILIP1 2 shared diseasesCardioembolic stroke, Willis-ekbom disease 2 shared evidence sourcesGWAS catalog (Cardioembolic stroke), GWAS catalog (Willis-ekbom disease) Related via 2 shared diseases including Cardioembolic stroke, Willis-ekbom disease — evidence mostly GWAS catalog. PTK2 2 shared diseasesCardioembolic stroke, Willis-ekbom disease 2 shared evidence sourcesGWAS catalog (Cardioembolic stroke), GWAS catalog (Willis-ekbom disease) Related via 2 shared diseases including Cardioembolic stroke, Willis-ekbom disease — evidence mostly GWAS catalog. KLF12 2 shared diseasesCardioembolic stroke, Willis-ekbom disease 2 shared evidence sourcesGWAS catalog (Cardioembolic stroke), GWAS catalog (Willis-ekbom disease) Related via 2 shared diseases including Cardioembolic stroke, Willis-ekbom disease — evidence mostly GWAS catalog. LRMDA 2 shared diseasesCardioembolic stroke, Willis-ekbom disease 2 shared evidence sourcesGWAS catalog (Cardioembolic stroke), GWAS catalog (Willis-ekbom disease) Related via 2 shared diseases including Cardioembolic stroke, Willis-ekbom disease — evidence mostly GWAS catalog. ZFHX3 2 shared diseasesCardioembolic stroke, Willis-ekbom disease 2 shared evidence sourcesGWAS catalog (Cardioembolic stroke), GWAS catalog (Willis-ekbom disease) Related via 2 shared diseases including Cardioembolic stroke, Willis-ekbom disease — evidence mostly GWAS catalog.
Atrial fibrillation Linked via 5 of 5 related genesFILIP1, PTK2, KLF12, LRMDA, ZFHX3 Diabetes mellitus type 2 Linked via 3 of 5 related genesFILIP1, LRMDA, ZFHX3 Atrial flutter Linked via 3 of 5 related genesPTK2, LRMDA, ZFHX3 Major depressive disorder Linked via 3 of 5 related genesKLF12, LRMDA, ZFHX3 Osteoarthritis Linked via 2 of 5 related genesFILIP1, LRMDA