BEND6 (BEN domain containing 6)

Gene

• Entrez ID: 221336
• Gene name: BEN domain containing 6
• Gene symbol: BEND6
• Synonyms (NCBI Gene): C6orf65
• Chromosome: 6
• Chromosome location: 6p12.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT722340	hsa-miR-452-5p	HITS-CLIP	19536157
MIRT722339	hsa-miR-4676-3p	HITS-CLIP	19536157
MIRT722338	hsa-miR-892c-3p	HITS-CLIP	19536157
MIRT722337	hsa-miR-622	HITS-CLIP	19536157
MIRT722336	hsa-miR-6870-3p	HITS-CLIP	19536157
MIRT722335	hsa-miR-875-3p	HITS-CLIP	19536157
MIRT722334	hsa-miR-6128	HITS-CLIP	19536157
MIRT722333	hsa-miR-1299	HITS-CLIP	19536157
MIRT722340	hsa-miR-452-5p	HITS-CLIP	19536157
MIRT722339	hsa-miR-4676-3p	HITS-CLIP	19536157
MIRT722338	hsa-miR-892c-3p	HITS-CLIP	19536157
MIRT722337	hsa-miR-622	HITS-CLIP	19536157
MIRT722336	hsa-miR-6870-3p	HITS-CLIP	19536157
MIRT722335	hsa-miR-875-3p	HITS-CLIP	19536157
MIRT722334	hsa-miR-6128	HITS-CLIP	19536157
MIRT722333	hsa-miR-1299	HITS-CLIP	19536157
MIRT820934	hsa-miR-1279	CLIP-seq
MIRT820935	hsa-miR-2117	CLIP-seq
MIRT820936	hsa-miR-4273	CLIP-seq
MIRT820937	hsa-miR-4677-5p	CLIP-seq
MIRT820938	hsa-miR-4776-3p	CLIP-seq
MIRT1545728	hsa-miR-33a	CLIP-seq
MIRT1545729	hsa-miR-33b	CLIP-seq
MIRT1545730	hsa-miR-586	CLIP-seq
MIRT820934	hsa-miR-1279	CLIP-seq
MIRT1545728	hsa-miR-33a	CLIP-seq
MIRT1545729	hsa-miR-33b	CLIP-seq
MIRT1942620	hsa-miR-3908	CLIP-seq
MIRT1545730	hsa-miR-586	CLIP-seq
MIRT1942621	hsa-miR-600	CLIP-seq
MIRT1942622	hsa-miR-616	CLIP-seq
MIRT1942623	hsa-miR-654-3p	CLIP-seq
MIRT2181387	hsa-miR-1343	CLIP-seq
MIRT2181388	hsa-miR-141	CLIP-seq
MIRT2181389	hsa-miR-200a	CLIP-seq
MIRT2181390	hsa-miR-23a	CLIP-seq
MIRT2181391	hsa-miR-23b	CLIP-seq
MIRT2181392	hsa-miR-23c	CLIP-seq
MIRT2181393	hsa-miR-3074-5p	CLIP-seq
MIRT2181394	hsa-miR-451b	CLIP-seq
MIRT2181395	hsa-miR-4539	CLIP-seq
MIRT2181396	hsa-miR-4705	CLIP-seq
MIRT2181397	hsa-miR-4724-5p	CLIP-seq
MIRT2484661	hsa-miR-3185	CLIP-seq
MIRT2484662	hsa-miR-4307	CLIP-seq
MIRT2484661	hsa-miR-3185	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003714	Function	Transcription corepressor activity	IBA
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0003714	Function	Transcription corepressor activity	IGI	23571214
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010558	Process	Negative regulation of macromolecule biosynthetic process	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IBA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045746	Process	Negative regulation of Notch signaling pathway	IBA
GO:0045746	Process	Negative regulation of Notch signaling pathway	IEA
GO:0045746	Process	Negative regulation of Notch signaling pathway	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA

Other IDs

• MIM: 621217
• HGNC: 20871
• e!Ensembl: ENSG00000151917

Protein

• UniProt ID: Q5SZJ8
• Protein name: BEN domain-containing protein 6
• Protein function: Acts as a corepressor of recombining binding protein suppressor hairless (RBPJ) and inhibits Notch signaling in neural stem cells, thereby opposing their self-renewal and promoting neurogenesis (PubMed:23571214).
• PDB: 7YUL, 7YUN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10523	BEN	191 → 268	BEN domain	Domain

• Sequence:

  MQKIVQTDEITNTQAFRKGKRKRTETMDSENANSDMDKGQRDPYSGNAFLPGESSSEDEE
  PLAELSKEELCAKIKSLKEKLTNTRKENSRLRQSLVMLQVLPQAVTQFEELVGMAEALLK
  GGGTMSTSASTLWRATNNSSPDSFASTCSNSNSNSSSPVSLKPEEEHQTDEKQFQIEKWQ
  IARCNKSKPQKFINDLMQVLYTNEYMATHSLTGAKSSTSRDKAVKPAMNQNEVQEIIGVT
  KQLFPNTDDVSIRRMIGQKLNNCTKKPNLSKNLNSQDIK

• Sequence length: 279

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
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations