DCAF12L1 (DDB1 and CUL4 associated factor 12 like 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 139170
Gene name DDB1 and CUL4 associated factor 12 like 1
Gene symbol DCAF12L1
Synonyms (NCBI Gene)
KIAA1892LWDR40B
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 multiprotein com
miRNA miRNA information provided by mirtarbase database.
14
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (14)
miRTarBase ID miRNA Experiments Reference
MIRT924625 hsa-miR-3123 CLIP-seq
MIRT924626 hsa-miR-4311 CLIP-seq
MIRT924627 hsa-miR-4704-5p CLIP-seq
MIRT924628 hsa-miR-4789-5p CLIP-seq
MIRT924629 hsa-miR-488 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25814554
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.
Q5VU92
Protein name DDB1- and CUL4-associated factor 12-like protein 1 (WD repeat-containing protein 40B)
Family and domains
Sequence 
MAQQQTGSRKRKAPAVEADAESSPSQGLAAADGEGPLLLKRQRRPATYRSMAHYLKVREV
GGWGPARLQGFDGELRGYAVQRLPELLTERQLELGTVNKVFASQWLNSRQVVCGTKCNTL
FVVDVESGHIARIPLLRDSEARLAQDQQGCGIHAIELNPSKTLLATGGENPNSLAIYQLP
SLDPLCLGDRHGHKDWIFAVAWLSDTVAVSGSRDGTVALWRMDPDKFDDTVAWHSEVGLP
VYAHIRPRDVEAIPRAIINPSNRKVRALACGGKNQELGAVSLDGYFHLWKAGSALSRLLS
IRLPYFRDNVCLTYCDDMSVYAVGSHSHVSFLDLRQDQQNIRPLCSREGGTGVRSLSFYR
HIITVGTGQGSLLFYDVRAQKFLEERASATLESSSGPARRKLRLACGRGWLNHNDFWVNY
FGGMEVFPNALYTHCYNWPEMKLFVAGGPLPAGLHGNYAGLWS
Sequence length 463
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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 Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Male infertility with azoospermia or oligozoospermia due to single gene mutation Likely pathogenic rs2520646399 RCV003991645
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (2)
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
CLEAR CELL RENAL CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
KIDNEY CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations