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... See more...

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
  • Protein BEAN1 3 4
  • BEAN 3 4
  • Spinocerebellar Ataxia 31 2
  • SCA31 3
  • BEAN1 5

External Ids for BEAN1 Gene

Previous HGNC Symbols for BEAN1 Gene

  • SCA31

Previous GeneCards Identifiers for BEAN1 Gene

  • GC16P052336
  • GC16P066460

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 Oropouche Fever. Among its related pathways are Spinocerebellar ataxia.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BEAN1 Gene

Genomics for BEAN1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BEAN1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J066427 Promoter 1.6 EPDnew Ensembl CraniofacialAtlas 600.7 +0.2 206 1.8 HNRNPL KDM1A EZH2 ZFX TGIF2 ZBTB26 MAX MBD1 TFDP1 PCBP1 BEAN1 HSALNG0112091 ENSG00000260851
GH16J066476 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 611.7 +51.6 51560 5.1 HNRNPL GATAD2A CTCF KDM1A JUND FOXA1 ZNF143 RXRB PATZ1 REST BEAN1 BEAN1-AS1 TK2 MN297376 LOC107984807 ENSG00000260851
GH16J066442 Promoter/Enhancer 0.5 EPDnew Ensembl 600.4 +14.8 14806 0.2 BEAN1 ENSG00000260146 lnc-TK2-8 HSALNG0112091 ENSG00000260851
GH16J066547 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 25.1 +124.1 124083 7.2 BRCA1 RNF2 HNRNPL GATAD2A CTCF PRDM10 ZNF629 TFE3 LEF1 SOX13 TK2 CKLF CKLF-CMTM1 ENSG00000275745 lnc-CMTM4-1 piR-33426 piR-57466 NAE1 ZDHHC1 BEAN1
GH16J066510 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 33.2 +84.9 84872 3.8 CREB1 GATAD2A ATF7 TEAD4 SOX13 IKZF1 RCOR2 ZNF7 PRDM1 PKNOX1 lnc-CMTM4-5 piR-60234 piR-55301 BEAN1 TK2 BEAN1-AS1 CKLF CKLF-CMTM1 CMTM2 CES4A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BEAN1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BEAN1

Genomic Locations for BEAN1 Gene

Genomic Locations for BEAN1 Gene
67,994 bases
Plus strand
66,617 bases
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:
    Recommended name:
    Protein BEAN1
    Protein Accession:
    Secondary Accessions:
    • B3KPC0
    • H3BP97

    Protein attributes for BEAN1 Gene

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

    Alternative splice isoforms for BEAN1 Gene


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

Gene Families for BEAN1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for BEAN1 Gene


Suggested Antigen Peptide Sequences for BEAN1 Gene

GenScript: Design optimal peptide antigens:
  • Brain-expressed protein associating with Nedd4 homolog (BEAN1_HUMAN)
genes like me logo Genes that share domains with BEAN1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for BEAN1 Gene

Function for BEAN1 Gene

Phenotypes From GWAS Catalog 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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BEAN1

Clone 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BEAN1 gene
Compartment Confidence
plasma membrane 2
extracellular 2
mitochondrion 2
nucleus 2
cytoskeleton 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BEAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with BEAN1: view

Pathways & Interactions for BEAN1 Gene

PathCards logo

SuperPathways for BEAN1 Gene

SuperPathway Contained pathways
1 Spinocerebellar ataxia
genes like me logo Genes that share pathways with BEAN1: view

Pathways by source for BEAN1 Gene

1 KEGG pathway for BEAN1 Gene

Interacting Proteins for BEAN1 Gene

Gene Ontology (GO) - Biological Process for BEAN1 Gene


No data available for SIGNOR curated interactions for BEAN1 Gene

Drugs & Compounds for BEAN1 Gene

No Compound Related Data Available

Transcripts for BEAN1 Gene

mRNA/cDNA for BEAN1 Gene

17 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BEAN1

Clone Products

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

No ASD Table

Relevant External Links for BEAN1 Gene

GeneLoc Exon Structure for

Expression for BEAN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BEAN1

SOURCE GeneReport for Unigene cluster for BEAN1 Gene:


Evidence on tissue expression from TISSUES for BEAN1 Gene

  • Nervous system(2.4)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BEAN1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • head
  • lower limb
  • upper limb
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with BEAN1: view

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
(Pan troglodytes)
Mammalia BEAN1 31
  • 98 (a)
(Bos Taurus)
Mammalia BEAN1 30 31
  • 85.1 (n)
(Canis familiaris)
Mammalia BEAN1 30 31
  • 84.57 (n)
(Rattus norvegicus)
Mammalia Bean1 30
  • 82.82 (n)
(Mus musculus)
Mammalia Bean1 30 17 31
  • 80.62 (n)
(Gallus gallus)
Aves BEAN1 31
  • 36 (a)
(Danio rerio)
Actinopterygii BEAN1 31
  • 29 (a)
Species where no ortholog for BEAN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

Gene Tree for BEAN1 (if available)
Gene Tree for BEAN1 (if available)
Evolutionary constrained regions (ECRs) for BEAN1: view image

Paralogs for BEAN1 Gene

(22) SIMAP similar genes for BEAN1 Gene using alignment to 3 proteins:

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BEAN1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
808054 Uncertain Significance: not provided 66,469,845(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for BEAN1 Gene

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)

Additional Variant Information for BEAN1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for BEAN1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
spinocerebellar ataxia 31
  • sca31
oropouche fever
  • oropouche virus disease
brazilian hemorrhagic fever
  • sabia hemorrhagic fever
venezuelan hemorrhagic fever
  • guanarito hemorrhagic fever
bolivian hemorrhagic fever
  • machupo hemorrhagic fever
- elite association - COSMIC cancer census association via MalaCards
Search BEAN1 in MalaCards View complete list of genes associated with diseases


  • 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

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 : official journal of the Japanese Society of Neuropathology 2013) 2 3
  2. Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n. (PMID: 19878914) Sato N … Mizusawa H (American journal of human genetics 2009) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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 CN … Kumar S (The Biochemical journal 2000) 2 3
  5. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B … Gibbs RA (Analytical biochemistry 1996) 2 3

Products for BEAN1 Gene

Sources for BEAN1 Gene