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BEAN1 - brain expressed associated with NEDD4 1 Gene

Also Known as BEAN; SCA31

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 146227

About BEAN1

Cytogenetic location: 16q21 Genomic coordinates (GRCh38): 16:66,427,295-66,495,288 (from NCBI)

This gene has 9 transcripts (splice variants), 85 orthologues and is associated with 2 phenotypes. Low expression observed in reference dataset.

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 is highly expressed in embryonic tissues. Mutations in this gene (i.e., intronic insertions of >100 copies of pentanucleotide repeats including a (TGGAA)n sequence) are associated with spinocerebellar ataxia type 31. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

BEAN1 Products (3)

mRNA	Protein	Name
NM_001136106.5	NP_001129578.1	protein BEAN1 isoform 2
NM_001178020.3	NP_001171491.1	protein BEAN1 isoform 1
NM_001197224.4	NP_001184153.1	protein BEAN1 isoform 4

Protein Preferred Names	Protein Names
protein BEAN1	brain-expressed protein associating with Nedd4 homolog

Related Diseases

Diseases	Alias
Spinocerebellar Ataxia 31	Spinocerebellar Ataxia Type 31 SCA31 Spinocerebellar Ataxia 16q22-Linked Spinocerebellar Ataxia, 16q22-Linked Pure Spinocerebellar Ataxia Japanese Type Sca4 Pure Japanese Type Ataxia, Spinocerebellar, Type 31
Epilepsy, Familial Adult Myoclonic, 7	FAME7 Bafme7 Fcmte7 Benign Adult Familial Myoclonic Epilepsy 7 Cortical Myoclonic Tremor With Epilepsy, Familial, 7 Familial Adult Myoclonic Epilepsy 7 Familial Cortical Myoclonic Tremor And Epilepsy 7 Benign Adult Familial Myoclonic Epilepsy 27 Epilepsy, Myoclonic, Familial Adult, Type 7
Epilepsy, Familial Adult Myoclonic, 6	FAME6 Benign Adult Familial Myoclonic Epilepsy 6 Bafme6 Fcmte6 Cortical Myoclonic Tremor With Epilepsy, Familial, 6 Familial Adult Myoclonic Epilepsy 6 Familial Cortical Myoclonic Tremor And Epilepsy 6 Epilepsy, Myoclonic, Familial Adult, Type 6
Epilepsy, Familial Adult Myoclonic, 3	FAME3 Fcmte3 Cortical Myoclonic Tremor With Epilepsy, Familial, 3 Familial Adult Myoclonic Epilepsy 3 Familial Cortical Myoclonic Tremor And Epilepsy 3 Epilepsy, Myoclonic, Familial Adult, Type 3
Marinesco-Sjogren Syndrome	Marinesco-Sjögren Syndrome MSS Marinesco-Garland Syndrome Garland-Moorhouse Syndrome Hereditary Oligophrenic Cerebello-Lental Degeneration Oligophrenic Cerebellolenticular Degeneration Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism Marinesco-Sjogren Syndrome-Myopathy Marinesco-Sjogren-Garland Syndrome Marinesco-Sjoegren Syndrome
Familial Adult Myoclonic Epilepsy	Benign Adult Familial Myoclonus Epilepsy Bafme Benign Adult Familial Myoclonic Epilepsy Fame Familial Cortical Myoclonic Tremor And Epilepsy Fcmte Adcme Autosomal Dominant Cortical Myoclonus And Epilepsy Fam Epilepsy, Myoclonic, Familial Adult Epilepsy, Myoclonic, Benign Adult Familial, Type 2
Spinocerebellar Ataxia 10	Spinocerebellar Ataxia Type 10 SCA10 Spinocerebellar Ataxia-10 Ataxia, Spinocerebellar, Type 10
Brugada Syndrome 9	BRGDA9 Brugada Syndrome, Type 9
Myotonic Dystrophy 2	Myotonic Dystrophy Type 2 Proximal Myotonic Myopathy Promm Ricker Syndrome DM2 Dystrophia Myotonica 2 Myotonic Myopathy, Proximal Myotonic Disorders Dystrophia Myotonica Type 2 Proximal Myotonic Dystrophy Ricker Disease Myotonic Dystrophy, Type 2 Dystrophy, Myotonic, Type 2
Developmental And Epileptic Encephalopathy 1	Epileptic Encephalopathy, Early Infantile, 1 Infantile Epileptic-Dyskinetic Encephalopathy DEE1 Eiee1 Issx1 Xmesid X-Linked Infantile Spasm Syndrome 1 X-Linked Infantile Spasm Syndrome X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome Developmental And Epileptic Encephalopathy, 1 Infantile Epileptic Dyskinetic Encephalopathy Infantile Spasm Syndrome, X-Linked 1 West Syndrome, X-Linked Ohtahara Syndrome, X-Linked Early Infantile Epileptic Encephalopathy 1 Early Infantile Epileptic Encephalopathy-1 Issx X-Linked Ohtahara Syndrome X-Linked West Syndrome Infantile Spasm Syndrome X-Linked 1 Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity Ohtahara Syndrome X-Linked West Syndrome X-Linked Encephalopathy, Epileptic, Early Infantile, Type 1
Autosomal Dominant Cerebellar Ataxia	Spinocerebellar Ataxia Adca Pierre Marie Cerebellar Ataxia Ataxia, Spinocerebellar Sca Autosomal Dominant Spinocerebellar Ataxia Spinocerebellar Ataxias

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (11)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-136633	Pyroxasulfone		99.88%	Unkown
HY-W012998	2,3-Pentanedione		99.74%	Unkown
HY-W012998S	2,3-Pentanedione-d5		98.00%	Unkown
HY-116056	16-O-Methylcafestol		99.61%	Unkown
HY-135738	Convicine		95.44%	Unkown
HY-N6745S	Citreoviridin-13C23		/	Unkown
HY-RS01462	BEAN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W748453	Cyclokievitone		/	Unkown
HY-126118	Dienochlor		/	Unkown
HY-W012998S1	2,3-Pentanedione-13C2		/	Unkown
HY-W012998S2	2,3-Pentanedione-d3		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	BEAN1	VGNC	VGNC:55036
Felis catus	BEAN1	VGNC	VGNC:60098
Canis familiaris	BEAN1	VGNC	VGNC:38427
Macaca mulatta	BEAN1	VGNC	VGNC:104682
Mus musculus	BEAN1	MGD	MGI:1929597
Rattus norvegicus	BEAN1	RGD	RGD:1562003
Others	BEAN1	NCBI