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Gene Gene information from NCBI Gene database.
Entrez ID 222389
Gene name BEN domain containing 7
Gene symbol BEND7
Synonyms (NCBI Gene)
C10orf30
Chromosome 10
Chromosome location 10p13
miRNA miRNA information provided by mirtarbase database.
24 Show/Hide all (24)
miRTarBase ID miRNA Experiments Reference
MIRT820939 hsa-miR-140-3p CLIP-seq
MIRT820940 hsa-miR-145 CLIP-seq
MIRT820941 hsa-miR-1825 CLIP-seq
MIRT820942 hsa-miR-199a-5p CLIP-seq
MIRT820943 hsa-miR-199b-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 16189514, 19060904, 25416956, 25910212, 26871637, 27107012, 32296183
GO:0070062 Component Extracellular exosome HDA 19056867
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N7W2
Protein name BEN domain-containing protein 7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10523 BEN 310 → 391 BEN domain Domain
Sequence
MEFSERKRSRKSQSFKLVSRDYHHEVYKIPEFSNDVNGEAKETQPIFLGDESMEIKKQIT
GMRRLLNDSTGRIYQRVGKEGEKLKEEPQDLDLVWPPRLNSSAEAPQSLHPSSRGVWNEL
PPQSGQFSGQYGTRSRTFQSQPHPTTSSNGELPVVNSSAGSNCCTCNCQSTLQAILQELK
TMRKLMQIQAVGTQNRQQPPISLICSQRTAVSRKRNKKKKVPPKTVEPLTVKQKPSGSEM
EKKSVVASELSALQAAEHTSPEESRVLGFGIVLESPSSDPEVQLAEGFDVFMPKSQLDSI
LSNYTRSGSLLFRKLVCAFFDDKTLANSLPNGKRKRGLNDNRKGLDQNIVGAIKVFTEKY
CTANHVDKLPGPRDWVQILQDQIKLARRRLK
RGSEIADSDERLDGIALPPTGACGGPCTV
LPGGSAAVTLVLQSSPQTMSQEKGQMAEPWEEQHLVLLNNLTRDRAETGALSQTSQDFKH
HSFLITQVSATLHHQRGIRNFPTPGSAKSLTLHISCLSL
Sequence length 519
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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 (6)
Phenotype Name Clinical Significance Source Reference Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog 34446935
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER — GWAS catalog 37359372
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA — GWAS catalog 35835914
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA — GWAS catalog 34099189
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE — GWAS catalog 34446935
★★★★★
★★☆☆☆
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
Malignant neoplasm of breast Breast Cancer UNIPROT_DG
★★★★★
★☆☆☆☆
Found in Text Mining only