BEND7 (BEN domain containing 7)

Gene

• Entrez ID: 222389
• Gene name: BEN domain containing 7
• Gene symbol: BEND7
• Synonyms (NCBI Gene): C10orf30
• Chromosome: 10
• Chromosome location: 10p13

miRNA

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
MIRT820944	hsa-miR-24	CLIP-seq
MIRT820945	hsa-miR-4330	CLIP-seq
MIRT820946	hsa-miR-4457	CLIP-seq
MIRT820947	hsa-miR-513b	CLIP-seq
MIRT820939	hsa-miR-140-3p	CLIP-seq
MIRT2181398	hsa-miR-1827	CLIP-seq
MIRT2181399	hsa-miR-2467-3p	CLIP-seq
MIRT2181400	hsa-miR-3612	CLIP-seq
MIRT2181401	hsa-miR-3689a-3p	CLIP-seq
MIRT2181402	hsa-miR-3689c	CLIP-seq
MIRT2181403	hsa-miR-4265	CLIP-seq
MIRT2181404	hsa-miR-4296	CLIP-seq
MIRT2181405	hsa-miR-4322	CLIP-seq
MIRT2181406	hsa-miR-4448	CLIP-seq
MIRT2181407	hsa-miR-4648	CLIP-seq
MIRT2181408	hsa-miR-4654	CLIP-seq
MIRT2181409	hsa-miR-4728-5p	CLIP-seq
MIRT2181410	hsa-miR-4769-5p	CLIP-seq
MIRT2181411	hsa-miR-650	CLIP-seq

Gene ontology (GO)

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

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: 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
  CTANHVDKLPGPRDWVQILQDQIKLARRRLKRGSEIADSDERLDGIALPPTGACGGPCTV
  LPGGSAAVTLVLQSSPQTMSQEKGQMAEPWEEQHLVLLNNLTRDRAETGALSQTSQDFKH
  HSFLITQVSATLHHQRGIRNFPTPGSAKSLTLHISCLSL

• Sequence length: 519

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from 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