Gene Gene information from NCBI Gene database.
Entrez ID 389206
Gene name BEN domain containing 4
Gene symbol BEND4
Synonyms (NCBI Gene)
CCDC4
Chromosome 4
Chromosome location 4p13
miRNA miRNA information provided by mirtarbase database.
333
miRTarBase ID miRNA Experiments Reference
MIRT029476 hsa-miR-26b-5p Sequencing 20371350
MIRT549215 hsa-let-7a-5p PAR-CLIP 20371350
MIRT549214 hsa-miR-98-5p PAR-CLIP 20371350
MIRT549213 hsa-miR-4500 PAR-CLIP 20371350
MIRT549212 hsa-miR-4458 PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
621197 23815 ENSG00000188848
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6ZU67
Protein name BEN domain-containing protein 4 (Coiled-coil domain-containing protein 4)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10523 BEN 413 489 BEN domain Domain
Sequence
MEEEMQPAEEGPSVPKIYKQRSPYSVLKTFPSKRPALAKRYERPTLVELPHVRAPPPPPP
PFAPHAAVSISSSEPPPQQFQAQSSYPPGPGRAAAAASSSSPSCTPATSQGHLRTPAQPP
PASPAASSSSSFAAVVRYGPGAAAAAGTGGTGSDSASLELSAESRMILDAFAQQCSRVLS
LLNCGGKLLDSNHSQSMISCVKQEGSSYNERQEHCHIGKGVHSQTSDNVDIEMQYMQRKQ
QTSAFLRVFTDSLQNYLLSGSFPTPNPSSASEYGHLADVDPLSTSPVHTLGGWTSPATSE
SHGHPSSSTLPEEEEEEDEEGYCPRCQELEQEVISLQQENEELRRKLESIPVPCQTVLDY
LKMVLQHHNQLLIPQPADQPTEGSKQLLNNYPVYITSKQWDEAVNSSKKDGRRLLRYLIR
FVFTTDELKYSCGLGKRKRSVQSGETGPERRPLDPVKVTCLREFIRMHCTSNPDWWMPSE
EQINKVFSD
AVGHARQGRAVGTFLHNGGSFYEGIDHQASQDEVFNKSSQDGSGD
Sequence length 534
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial acute necrotizing encephalopathy Uncertain significance 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
Carcinoma of lung Lung carcinoma BEFREE 28722770
★☆☆☆☆
Found in Text Mining only
Child Development Disorders, Pervasive Development Disorder GWASCAT_DG 30804558
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 21636702
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 21636702 Associate
★☆☆☆☆
Found in Text Mining only
Depressive Disorder Major depressive disorder Pubtator 32099098 Associate
★☆☆☆☆
Found in Text Mining only
Major Depressive Disorder Mental Depression GWASCAT_DG 30804558
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of lung Lung Cancer BEFREE 28722770
★☆☆☆☆
Found in Text Mining only