BEAN1 (brain expressed associated with NEDD4 1)

Gene

• Entrez ID: 146227
• Gene name: Brain expressed associated with NEDD4 1
• Gene symbol: BEAN1
• Synonyms (NCBI Gene): BEAN, SCA31
• Chromosome: 16
• Chromosome location: 16q21
• Summary: The protein encoded by this gene is one of several proteins that interact with NEDD4, a member of a family of ubiquitin-protein ligases. These proteins have PY motifs in common that bind to the WW domains of NEDD4. NEDD4 is developmentally regulated, and

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT820639	hsa-miR-3134	CLIP-seq
MIRT820640	hsa-miR-3688-3p	CLIP-seq
MIRT820641	hsa-miR-4520a-5p	CLIP-seq
MIRT820642	hsa-miR-4520b-5p	CLIP-seq
MIRT820643	hsa-miR-4534	CLIP-seq
MIRT820644	hsa-miR-1208	CLIP-seq
MIRT820645	hsa-miR-198	CLIP-seq
MIRT820646	hsa-miR-4645-5p	CLIP-seq
MIRT820647	hsa-miR-4659a-5p	CLIP-seq
MIRT820648	hsa-miR-4659b-5p	CLIP-seq
MIRT820649	hsa-miR-4673	CLIP-seq
MIRT820650	hsa-miR-4769-3p	CLIP-seq
MIRT1942511	hsa-miR-1285	CLIP-seq
MIRT1942512	hsa-miR-1343	CLIP-seq
MIRT1942513	hsa-miR-3135	CLIP-seq
MIRT1942514	hsa-miR-3187-5p	CLIP-seq
MIRT1942515	hsa-miR-34a	CLIP-seq
MIRT1942516	hsa-miR-34c-5p	CLIP-seq
MIRT1942517	hsa-miR-449a	CLIP-seq
MIRT1942518	hsa-miR-449b	CLIP-seq
MIRT1942519	hsa-miR-4757-5p	CLIP-seq
MIRT1942520	hsa-miR-4774-3p	CLIP-seq
MIRT1942521	hsa-miR-612	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0016020	Component	Membrane	IEA

Other IDs

• MIM: 612051
• HGNC: 24160
• e!Ensembl: ENSG00000166546

Protein

• UniProt ID: Q3B7T3
• Protein name: Protein BEAN1 (Brain-expressed protein associating with Nedd4 homolog) (BEAN)
• Sequence:

  MSFKRPCPLARYNRTSYFYPTFSESSEHSHLLVSPVLVASAVIGVVIILSCITIIVGSIR
  RDRQARLQRHRHRHHRHHHHHHHHRRRRHREYEHGYVSDEHTYSRSSRRMRYACSSSEDW
  PPPLDISSDGDVDATVLRELYPDSPPGYEECVGPGATQLYVPTDAPPPYSLTDSCPTLDG
  TSDSGSGHSPGRHQQEQRTPAQGGLHTVSMDTLPPYEAVCGAGPPSGLLPLPGPDPGPRG
  SQGSPTPTRAPASGPERIV

• Sequence length: 259

Pathways

KEGG:

Spinocerebellar ataxia

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
BEAN1-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 31	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia type 31	Benign	ClinVar ClinVar, GWAS catalog, Orphanet ClinVar, GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anemia, Sickle Cell	Anemia	BEFREE	31803128		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	21088341	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	25706752		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	31229086		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	BEFREE	21163552		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	24615163		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystrophia myotonica 2	Myotonic dystrophy	BEFREE	21593608		★☆☆☆☆ Found in Text Mining only
HUNTINGTON DISEASE-LIKE 2	Huntington Disease-Like	BEFREE	21593608		★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	29111027, 31803128		★☆☆☆☆ Found in Text Mining only
Marie Cerebellar Ataxia	Marie Cerebellar Ataxia	BEFREE	21163552		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal carnitine transport defect	Renal Carnitine Transport Defect	BEFREE	31803128		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 10	Spinocerebellar Ataxia	BEFREE	21593608		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 31	Spinocerebellar ataxia	Pubtator	19878914, 30634945	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 31 (disorder)	Spinocerebellar Ataxia	ORPHANET_DG	17611710, 19878914, 22992774		★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 31 (disorder)	Spinocerebellar Ataxia	GENOMICS_ENGLAND_DG	19878914		★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 31 (disorder)	Spinocerebellar Ataxia	BEFREE	22992774, 23607545, 31755042		★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 31 (disorder)	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 8	Spinocerebellar Ataxia	BEFREE	21593608		★☆☆☆☆ Found in Text Mining only
Spinocerebellar ataxia type 31	Spinocerebellar Ataxia	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	BEFREE	25706752, 31803128		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Degeneration	Spinocerebellar Degeneration	BEFREE	25706752		★☆☆☆☆ Found in Text Mining only
Spinocerebellar tract degeneration	Spinocerebellar Degeneration	BEFREE	25706752		★☆☆☆☆ Found in Text Mining only