Gene Gene information from NCBI Gene database.
Entrez ID 10238
Gene name DDB1 and CUL4 associated factor 7
Gene symbol DCAF7
Synonyms (NCBI Gene)
AN11HAN11SWAN-1WDR68
Chromosome 17
Chromosome location 17q23.3
Summary This gene encodes a protein with multiple WD40 repeats which facilitate protein-protein interactions and thereby enable the assembly of multiprotein complexes. This protein has been shown to function as a scaffold protein for protein complexes involved in
miRNA miRNA information provided by mirtarbase database.
2341
miRTarBase ID miRNA Experiments Reference
MIRT005255 hsa-miR-155-5p pSILAC 18668040
MIRT016519 hsa-miR-193b-3p Microarray 20304954
MIRT005255 hsa-miR-155-5p Proteomics 18668040
MIRT025855 hsa-miR-7-5p Microarray 19073608
MIRT031255 hsa-miR-19b-3p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 14593110, 14743216, 20940704, 21328542, 23602568, 25959826, 27173435, 27307198, 27705803, 32707033, 32814053, 33961781, 35016035, 36950384
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005654 Component Nucleoplasm TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605973 30915 ENSG00000136485
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P61962
Protein name DDB1- and CUL4-associated factor 7 (WD repeat-containing protein 68) (WD repeat-containing protein An11 homolog)
Protein function Involved in craniofacial development. Acts upstream of the EDN1 pathway and is required for formation of the upper jaw equivalent, the palatoquadrate. The activity required for EDN1 pathway function differs between the first and second arches (B
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 256 295 WD domain, G-beta repeat Repeat
Sequence
MSLHGKRKEIYKYEAPWTVYAMNWSVRPDKRFRLALGSFVEEYNNKVQLVGLDEESSEFI
CRNTFDHPYPTTKLMWIPDTKGVYPDLLATSGDYLRVWRVGETETRLECLLNNNKNSDFC
APLTSFDWNEVDPYLLGTSSIDTTCTIWGLETGQVLGRVNLVSGHVKTQLIAHDKEVYDI
AFSRAGGGRDMFASVGADGSVRMFDLRHLEHSTIIYEDPQHHPLLRLCWNKQDPNYLATM
AMDGMEVVILDVRVPCTPVARLNNHRACVNGIAWAPHSSCHICTAADDHQALIWDIQQMP
RAIEDPILAYTAEGEINNVQWASTQPDWIAICYNNCLEILRV
Sequence length 342
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Polycomb repressive complex   Neddylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Benign ClinVar
★★☆☆☆
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
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 26830138
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down Syndrome BEFREE 28137862
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down syndrome Pubtator 30496304 Associate
★☆☆☆☆
Found in Text Mining only
Epidermodysplasia Verruciformis Epidermodysplasia verruciformis Pubtator 23637414 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia, Megakaryoblastic, of Down Syndrome Leukemia, Megakaryoblastic, Of Down Syndrome CTD_human_DG 24056718
★☆☆☆☆
Found in Text Mining only
Status Epilepticus Status Epilepticus BEFREE 29799616
★☆☆☆☆
Found in Text Mining only