BEAN1 Gene
protein-coding GIFtS: 37
GCID: GC16P066460
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|
brain expressed, associated with NEDD4, 1
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Aliases
for BEAN1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Brain Expressed, Associated With NEDD4, 11 2 | | BEAN2 3 5 | | Brain-Expressed Protein Associating With Nedd4 Homolog2 3 | | SCA312 5 | | Protein BEAN12 |
Export aliases for BEAN1 gene to outside databasesPrevious GC identifer: GC16P052336 |
Summaries
for BEAN1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for BEAN1:
The protein encoded by this gene is one of several proteins that interact with NEDD4, a member of a family ofubiquitin-protein ligases. These proteins have PY motifs in common that bind to the WW domains of NEDD4. NEDD4 isdevelopmentally regulated, and is highly expressed in embryonic tissues. Mutations in this gene (i.e., intronicinsertions of >100 copies of pentanucleotide repeats including a (TGGAA)n sequence) are associated withspinocerebellar ataxia type 31. Alternatively spliced transcript variants encoding different isoforms have been foundfor this gene. (provided by RefSeq, May 2010)
|
Genomic Views
for BEAN1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000016.9 NC_018927.1 NT_010498.15
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for BEAN1
Other transcription factors
Search SABiosciences Chromatin IP Primers for BEAN1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BEAN1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 16q21 Ensembl cytogenetic band: 16q21 HGNC cytogenetic band: 16q21BEAN1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 16 GeneLoc Exon Structure GeneLoc location for GC16P066460: view genomic region
(about GC identifiers)
Start:
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66,460,816 bp from pter |
End:
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66,527,432 bp from pter |
Size:
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66,617 bases |
Orientation:
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plus strand |
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Proteins
for BEAN1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: BEAN1_HUMAN, Q3B7T3 (See
protein sequence)Recommended Name: Protein BEAN1 Size: 259 amino acids; 28626 Da
Subunit: Interacts with NEDD4 (By similarity)
Subcellular location: Membrane; Single-pass membrane protein (Potential)
Sequence caution: Sequence=AAI07478.1; Type=Erroneous initiation; Sequence=EG328447; Type=Frameshift; Positions=79;
Secondary accessions: B3KPC0Alternative splicing: 2 isoforms: Q3B7T3-1 Q3B7T3-2 Explore the universe of human proteins at neXtProt for BEAN1: NX_Q3B7T3
BEAN1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (4 alternative transcripts):
NP_001129578.1 NP_001171491.1 NP_001184153.1 NP_001184154.1
ENSEMBL proteins: ENSP00000442793 ENSP00000456822 ENSP00000299694 ENSP00000455212 ENSP00000456430 ENSP00000462088
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016021 | integral to membrane |
IEA | -- |
BEAN1 for ontologies About GeneDecksing
BEAN1 Antibody Products:
Assay Products for BEAN1: |
Protein
Domains /
Families
for BEAN1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q3B7T3 |
Function
for BEAN1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BEAN1 (see all 7)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BEAN1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 4): BEAN1 (NM_001197224) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BEAN1 | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat BEAN1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BEAN1 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005515 | protein binding |
-- | -- |
BEAN1 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for BEAN1:
|
Pathways & Interactions
for BEAN1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BEAN1
1 Interacting protein for BEAN1 (Q3B7T33) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008219 | cell death |
IEA | -- |
BEAN1 for ontologies About GeneDecksing
|
Drugs & Compounds
for BEAN1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for BEAN1
Search CenterWatch for drugs/clinical trials and news about BEAN1
|
Transcripts
for BEAN1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for BEAN1 gene (4 alternative transcripts): NM_001136106.4 NM_001178020.2 NM_001197224.2 NM_001197225.2 Unigene Clusters for BEAN1: Brain expressed, associated with NEDD4, 1 Hs.97805 [show with all ESTs], Hs.740218 , Hs.740219 Unigene Representative Sequences: AK130753, AB472398, AB4723959 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000536005 ENST00000562849(uc002eop.2 uc021tjl.1 uc002eoq.3)
ENST00000299694 ENST00000561796(uc021tjm.1 uc021tjn.1 uc021tjo.1 uc021tjq.1)
ENST00000569272 ENST00000564819 ENST00000563075 ENST00000562146 ENST00000566654
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BEAN1 (see all 7)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BEAN1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 4): BEAN1 (NM_001197224) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BEAN1 | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat BEAN1 |
Additional cDNA sequence: AB472395.1 6 DOTS entries: DT.313160 DT.102830498 DT.102819801 DT.403209 DT.120724929 DT.91823895 24/31 AceView cDNA sequences (see all 31): BM666201 AF070610 AK056142 BX106363 BC000818 AI698834 CB265688 AA351584 AW294004 AI056905 AA043142 BE537773 AA351583 AI025464 BM711220 H17282 AA040867 BI915496 AA035444 AW005260 AA040873 AA035584 AA043136 CK023750
GeneLoc Exon Structure
|
Expression
for BEAN1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| BEAN1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GACACCCTTC
About this image
See BEAN1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BEAN1
SOURCE GeneReport for Unigene clusters: Hs.97805 Hs.740218 Hs.740219
SABiosciences Custom PCR Arrays for BEAN1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BEAN1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat BEAN1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BEAN1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BEAN1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BEAN1 |
Orthologs
for BEAN1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for BEAN1 gene from 3/7 species (see all 7) About this table
ENSEMBL Gene Tree for BEAN1 (if available)
TreeFam Gene Tree for BEAN1 (if available) |
Paralogs
for BEAN1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for BEAN1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 16 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for BEAN1 (66460816 - 66527432 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for BEAN1: --
Human Gene Mutation Database (HGMD): BEAN1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BEAN1 |
|
Disorders
/ Diseases
for BEAN1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
BEAN1 for disorders About GeneDecksing
OMIM gene information: 612051
OMIM disorders: 117210
UniProtKB/Swiss-Prot: BEAN1_HUMAN, Q3B7T3
Defects in BEAN1 are the cause of spinocerebellar ataxia type 31 (SCA31) [MIM:117210]; also known asspinocerebellar ataxia 16q22-linked. A form of spinocerebellar ataxia, a clinically and genetically heterogeneousgroup of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands,speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinalcord. SCA31 belongs to the autosomal dominant cerebellar ataxias type III (ADCA III) which are characterized by purecerebellar ataxia without additional signs
4  diseases for BEAN1: About MalaCardsspinocerebellar ataxia ataxia spinocerebellar ataxia 31 cerebellar ataxia
Export disorders for BEAN1 gene to outside databases
|
Publications
for BEAN1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for BEAN1 gene, integrated from 9 sources (see all 14):
(articles sorted by number of sources associating them with BEAN1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Spinocerebellar ataxia type 31 is associated with 'inserted' penta- nucleotide repeats containing (TGGAA)n. (PubMed id 19878914)1, 2 Sato N.... Mizusawa H. (2009)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Identification of multiple proteins expressed in muri ne embryos as binding partners for the WW domains of the ubiquitin-protein liga se Nedd4. (PubMed id 11042109)1, 3 Jolliffe C.N....Kumar S. (2000)
- A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)1, 3 Andersson B.... Gibbs R.A. (1996)
- SCA31 is rare in the Chinese population on Taiwan. (PubMed id 21163552)1 Lee Y.C....Soong B.W. (2012)
- Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians. (PubMed id 22049201)1 Ishikawa K....Mizusawa H. (2011)
- [Spinocerebellar ataxia type 31]. (PubMed id 21921537)1 Ishikawa K....Mizusawa H. (2010)
- Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. (PubMed id 20723845)1 Durr A. (2010)
- Comparison of substrate specificity of the ubiquitin ligases Nedd4 and Nedd4-2 using proteome arrays. (PubMed id 19953087)1 Persaud A....Rotin D. (2009)
- The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (2004)
|
External Searches for BEAN1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing BEAN1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing BEAN1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing BEAN1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
About This Section
| Patent Information for BEAN1 gene:
Search GeneIP for patents involving BEAN1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for BEAN1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for BEAN1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BEAN1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BEAN1 | | | OriGene Protein Over-expression Lysate for BEAN1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for BEAN1 | | OriGene 3'-UTR Clone for BEAN1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BEAN1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BEAN1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | | Search Tocris compounds for BEAN1 |
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 | | | BEAN1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BEAN1 |
|  |  |  | | | | Search ThermoFisher Antibodies for BEAN1 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat BEAN1 |
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