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Aliases for BEAN1 Gene

Aliases for BEAN1 Gene

  • Brain Expressed, Associated With NEDD4, 1 2 3
  • BEAN 3 4 6
  • Brain-Expressed Protein Associating With Nedd4 Homolog 3 4
  • SCA31 3 6
  • Spinocerebellar Ataxia 31 2
  • Protein BEAN1 3

External Ids for BEAN1 Gene

Previous HGNC Symbols for BEAN1 Gene

  • SCA31

Previous GeneCards Identifiers for BEAN1 Gene

  • GC16P052336

Summaries for BEAN1 Gene

Entrez Gene Summary for BEAN1 Gene

  • 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]

GeneCards Summary for BEAN1 Gene

BEAN1 (Brain Expressed, Associated With NEDD4, 1) is a Protein Coding gene. Diseases associated with BEAN1 include spinocerebellar ataxia 31 and ataxia.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BEAN1 Gene

Genomics for BEAN1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for BEAN1 Gene

Start:
66,427,297 bp from pter
End:
66,494,193 bp from pter
Size:
66,897 bases
Orientation:
Plus strand

Genomic View for BEAN1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BEAN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BEAN1 Gene

No data available for Regulatory Elements for BEAN1 Gene

Proteins for BEAN1 Gene

  • Protein details for BEAN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3B7T3-BEAN1_HUMAN
    Recommended name:
    Protein BEAN1
    Protein Accession:
    Q3B7T3
    Secondary Accessions:
    • B3KPC0
    • H3BP97

    Protein attributes for BEAN1 Gene

    Size:
    259 amino acids
    Molecular mass:
    28626 Da
    Quaternary structure:
    • Interacts with NEDD4.
    SequenceCaution:
    • Sequence=AAI07478.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EG328447; Type=Frameshift; Positions=79; Evidence={ECO:0000305};

    Alternative splice isoforms for BEAN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BEAN1 Gene

Proteomics data for BEAN1 Gene at MOPED

Post-translational modifications for BEAN1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BEAN1 Gene

Domains for BEAN1 Gene

Protein Domains for BEAN1 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for BEAN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BEAN1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for BEAN1 Gene

Function for BEAN1 Gene

Gene Ontology (GO) - Molecular Function for BEAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with BEAN1: view

Phenotypes for BEAN1 Gene

GenomeRNAi human phenotypes for BEAN1:
genes like me logo Genes that share phenotypes with BEAN1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BEAN1

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for BEAN1 Gene

Localization for BEAN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BEAN1 Gene

Membrane; Single-pass membrane protein.

Gene Ontology (GO) - Cellular Components for BEAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with BEAN1: view

No data available for Subcellular locations from COMPARTMENTS for BEAN1 Gene

Pathways for BEAN1 Gene

SuperPathways for BEAN1 Gene

No Data Available

Interacting Proteins for BEAN1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000442793%0d%0a9606.ENSP00000358081%0d%0a9606.ENSP00000345530%0d%0a
Selected Interacting proteins: ENSP00000442793 Q3B7T3-BEAN1_HUMAN for BEAN1 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for BEAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008219 cell death --
genes like me logo Genes that share ontologies with BEAN1: view

No data available for Pathways by source for BEAN1 Gene

Transcripts for BEAN1 Gene

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BEAN1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for BEAN1
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BEAN1 Gene

No ASD Table

Relevant External Links for BEAN1 Gene

GeneLoc Exon Structure for
BEAN1
ECgene alternative splicing isoforms for
BEAN1

Expression for BEAN1 Gene

mRNA expression in normal human tissues for BEAN1 Gene

mRNA differential expression in normal tissues according to GTEx for BEAN1 Gene

This gene is overexpressed in Brain - Cerebellum (4.3) and Brain - Cerebellar Hemisphere (4.2).

SOURCE GeneReport for Unigene cluster for BEAN1 Gene Hs.97805

genes like me logo Genes that share expressions with BEAN1: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein expression and mRNA Expression by UniProt/SwissProt for BEAN1 Gene

Orthologs for BEAN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BEAN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BEAN1 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BEAN1 35
  • 85.1 (n)
  • 85.1 (a)
BEAN1 36
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BEAN1 35
  • 84.57 (n)
  • 84.05 (a)
BEAN1 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bean1 35
  • 80.62 (n)
  • 80.23 (a)
Bean1 16
Bean1 36
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bean1 35
  • 82.82 (n)
  • 81.4 (a)
chicken
(Gallus gallus)
Aves BEAN1 36
  • 36 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii BEAN1 36
  • 29 (a)
OneToOne
Species with no ortholog for BEAN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BEAN1 Gene

ENSEMBL:
Gene Tree for BEAN1 (if available)
TreeFam:
Gene Tree for BEAN1 (if available)

Paralogs for BEAN1 Gene

genes like me logo Genes that share paralogs with BEAN1: view

No data available for Paralogs for BEAN1 Gene

Variants for BEAN1 Gene

Sequence variations from dbSNP and Humsavar for BEAN1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs37166 -- 66,481,217(+) CTCCC(A/G)GCCTG utr-variant-3-prime, intron-variant
rs37167 -- 66,490,848(+) TCAGC(C/T)TTTCA intron-variant
rs40191 -- 66,483,423(+) CTACA(C/T)GTTTT intron-variant
rs94163 -- 66,478,921(-) GTGCT(C/T)GCCTG intron-variant
rs749345 -- 66,478,906(-) TGGGC(C/T)TTTGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BEAN1 Gene

Variant ID Type Subtype PubMed ID
nsv833264 CNV Gain 17160897
nsv906785 CNV Loss 21882294
nsv1838 CNV Insertion 18451855
nsv827705 CNV Gain 20364138
nsv906786 CNV Loss 21882294
esv2661454 CNV Deletion 23128226
esv2714644 CNV Deletion 23290073
esv2672892 CNV Deletion 23128226

Relevant External Links for BEAN1 Gene

HapMap Linkage Disequilibrium report
BEAN1
Human Gene Mutation Database (HGMD)
BEAN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BEAN1 Gene

Disorders for BEAN1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for BEAN1 Gene including...

Search for BEAN1 Gene in MalaCards »

(1) OMIM Diseases for BEAN1 Gene (612051)

UniProtKB/Swiss-Prot

BEAN1_HUMAN
  • Spinocerebellar ataxia 31 (SCA31) [MIM:117210]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group 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 spinal cord. SCA31 belongs to the autosomal dominant cerebellar ataxias type III (ADCA III) which are characterized by pure cerebellar ataxia without additional signs. {ECO:0000269 PubMed:19878914}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with BEAN1: view

Publications for BEAN1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  2. Spinocerebellar ataxia type 31 is associated with 'inserted' penta- nucleotide repeats containing (TGGAA)n. (PMID: 19878914) Sato N. … Mizusawa H. (Am. J. Hum. Genet. 2009) 3 4
  3. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B. … Gibbs R.A. (Anal. Biochem. 1996) 2 3
  4. Identification of multiple proteins expressed in murine embryos as binding partners for the WW domains of the ubiquitin-protein ligase Nedd4. (PMID: 11042109) Jolliffe C.N. … Kumar S. (Biochem. J. 2000) 2 3
  5. Abnormal RNA structures (RNA foci) containing a penta-nucleotide repeat (UGGAA)n in the Purkinje cell nucleus is associated with spinocerebellar ataxia type 31 pathogenesis. (PMID: 23607545) Niimi Y. … Ishikawa K. (Neuropathology 2013) 2 3

Products for BEAN1 Gene

Sources for BEAN1 Gene

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