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Aliases for BEAN1 Gene

Aliases for BEAN1 Gene

  • Brain Expressed, Associated With NEDD4, 1 2 3 5
  • Brain-Expressed Protein Associating With Nedd4 Homolog 3 4
  • BEAN 3 4
  • Spinocerebellar Ataxia 31 2
  • Protein BEAN1 3
  • SCA31 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.

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

Regulatory Elements for BEAN1 Gene

Enhancers for BEAN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16F066538 0.8 Ensembl ENCODE 34.6 +112.4 112365 2.5 MTA2 MAFG ZNF664 ZNF316 EED IKZF1 NFE2 ETV6 MAFK EMSY BEAN1 TK2 CMTM2 CKLF ENSG00000261519 ENSG00000260851
GH16F066568 1.2 Ensembl ENCODE 34.4 +142.2 142220 2.5 HDGF CREB3L1 ARID4B DMAP1 ZNF766 ZNF207 FOS KLF13 ZNF263 SP3 BEAN1 E2F4 ENSG00000260465 FBXL8 KIAA0895L ZDHHC1 CMTM1 CMTM2
GH16F066560 0.2 ENCODE 34 +135.0 135008 2.7 HDGF CTCF PKNOX1 RAD21 ZNF121 ZNF664 SCRT2 IKZF1 NR2F6 BEAN1 TK2 ENSG00000277978 GC16M066555 PIR36312
GH16F066580 1.1 Ensembl ENCODE 33.6 +154.0 153993 2.2 CTCF PKNOX1 TEAD4 INSM2 CEBPG RAD21 TEAD3 HIC1 POLR2A ZNF366 BEAN1 CMTM3 CKLF CKLF-CMTM1 TK2 ENSG00000260650
GH16F066510 1 Ensembl ENCODE 33.2 +84.9 84871 3.8 PKNOX1 ARID4B SIN3A ZNF121 ELK1 FOS SP5 REST PPARG SMARCB1 BEAN1 TK2 BEAN1-AS1 CKLF CKLF-CMTM1 CMTM2 CES4A GC16M066512 ENSG00000260851
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around BEAN1 on UCSC Golden Path with GeneCards custom track

Promoters for BEAN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001802216 103 1201 BCOR KLF1 SUZ12 ZMYM3 GLI4 HBP1 ZNF664 ZFHX2 NR2F6 EGR2

Genomic Location for BEAN1 Gene

Chromosome:
16
Start:
66,427,297 bp from pter
End:
66,493,529 bp from pter
Size:
66,233 bases
Orientation:
Plus strand

Genomic View for BEAN1 Gene

Genes around BEAN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BEAN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BEAN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

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 & Families 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

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

Human Phenotype Ontology for BEAN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BEAN1 Gene

MGI Knock Outs for BEAN1:

Animal Model Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for BEAN1 Gene

Localization for BEAN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BEAN1 Gene

Membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BEAN1 Gene COMPARTMENTS Subcellular localization image for BEAN1 gene
Compartment Confidence
extracellular 2
nucleus 2
cytosol 1
golgi apparatus 1
mitochondrion 1
plasma membrane 1

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

Pathways & Interactions 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 IID

Gene Ontology (GO) - Biological Process for BEAN1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for BEAN1 Gene

Transcripts for BEAN1 Gene

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 (x4.3) and Brain - Cerebellar Hemisphere (x4.2).

NURSA nuclear receptor signaling pathways regulating expression of BEAN1 Gene:

BEAN1

SOURCE GeneReport for Unigene cluster for BEAN1 Gene:

Hs.97805
genes like me logo Genes that share expression patterns with BEAN1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners 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 35
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BEAN1 34 35
  • 85.1 (n)
dog
(Canis familiaris)
Mammalia BEAN1 34 35
  • 84.57 (n)
rat
(Rattus norvegicus)
Mammalia Bean1 34
  • 82.82 (n)
mouse
(Mus musculus)
Mammalia Bean1 34 16 35
  • 80.62 (n)
chicken
(Gallus gallus)
Aves BEAN1 35
  • 36 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii BEAN1 35
  • 29 (a)
OneToOne
Species where no ortholog for BEAN1 was found in the sources mined by GeneCards:
  • 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
rs1008053 -- 66,469,148(+) GAAGC(C/T)GGCAG intron-variant
rs10431922 -- 66,460,271(+) AAGAT(A/G)GAGGA intron-variant
rs11075633 -- 66,437,544(+) AGGGG(A/C)TGTGG intron-variant
rs11075634 -- 66,453,022(+) CATAA(A/G)GCTGC intron-variant
rs11075635 -- 66,453,085(+) ATTCT(C/G)TGTTG intron-variant

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

Variant ID Type Subtype PubMed ID
esv2661454 CNV deletion 23128226
esv2672892 CNV deletion 23128226
esv2714644 CNV deletion 23290073
esv3638869 CNV loss 21293372
esv3638870 CNV loss 21293372
nsv1118356 CNV deletion 24896259
nsv1838 CNV insertion 18451855
nsv827705 CNV gain 20364138
nsv833264 CNV gain 17160897

Variation tolerance for BEAN1 Gene

Gene Damage Index Score: 1.91; 35.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BEAN1 Gene

Human Gene Mutation Database (HGMD)
BEAN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BEAN1

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

Disorders for BEAN1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BEAN1 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia 31
  • spinocerebellar ataxia type 31
- elite association - COSMIC cancer census association via MalaCards
Search BEAN1 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for BEAN1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BEAN1
genes like me logo Genes that share disorders with BEAN1: view

No data available for Genatlas for BEAN1 Gene

Publications for BEAN1 Gene

  1. 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 64
  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 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  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 64
  5. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B. … Gibbs R.A. (Anal. Biochem. 1996) 2 3 64

Products for BEAN1 Gene

Sources for BEAN1 Gene

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