BEND5 (BEN domain containing 5)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 79656
Gene name BEN domain containing 5
Gene symbol BEND5
Synonyms (NCBI Gene)
C1orf165
Chromosome 1
Chromosome location 1p33
miRNA miRNA information provided by mirtarbase database.
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT045095 hsa-miR-186-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (6)
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 24722188, 25416956, 26871637, 29892012, 32296183
GO:0005794 Component Golgi apparatus IEA
GO:0045892 Process Negative regulation of DNA-templated transcription IBA
GO:0045892 Process Negative regulation of DNA-templated transcription IDA 23468431
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
621198 25668 ENSG00000162373
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.
Q7L4P6
Protein name BEN domain-containing protein 5
Protein function Acts as a transcriptional repressor (PubMed:23468431).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10523 BEN 323 → 401 BEN domain Domain
Sequence 
MYAFVRFLEDNVCYALPVSCVRDFSPRSRLDFDNQKVYAVYRGPEELGAGPESPPRAPRD
WGALLLHKAQILALAEDKSDLENSVMQKKIKIPKLSLNHVEEDGEVKDYGEEDLQLRHIK
RPEGRKPSEVAHKSIEAVVARLEKQNGLSLGHSTCPEEVFVEASPGTEDMDSLEDAVVPR
ALYEELLRNYQQQQEEMRHLQQELERTRRQLVQQAKKLKEYGALVSEMKELRDLNRRLQD
VLLLRLGSGPAIDLEKVKSECLEPEPELRSTFSEEANTSSYYPAPAPVMDKYILDNGKVH
LGSGIWVDEEKWHQLQVTQGDSKYTKNLAVMIWGTDVLKNRSVTGVATKKKKDAVPKPPL
SPHKLSIVRECLYDRIAQETVDETEIAQRLSKVNKYICEKIMDINKSCKNEERREAKYNL
Q
Sequence length 421
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 Unknown Diseases (3)
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
ENDOMETRIOSIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MULTINODULAR GOITER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Prostate cancer Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (6)
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 35844785 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 29371920
★★★★★
★☆☆☆☆
Found in Text Mining only
Endometriosis Endometriosis GWASCAT_DG 28881265
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Glioblastoma Glioblastoma Pubtator 35295612 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 29371920
★★★★★
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma Pubtator 28069802 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only