HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
BEAN1
brain expressed associated with NEDD4 1
Chromosome 16 · 16q21
NCBI Gene: 146227Ensembl: ENSG00000166546.15HGNC: HGNC:24160UniProt: Q3B7T3
18PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Swiss-Prot Reviewed
membranespinocerebellar ataxia type 31ShockreadingBenign familial chorea
✦AI Summary

BEAN1 (brain expressed associated with NEDD4 1) is a brain-specific gene located on chromosome 16 whose primary function relates to non-coding RNA regulation rather than protein coding. The gene is defined by its association with spinocerebellar ataxia type 31 (SCA31), caused by complex pentanucleotide repeat expansions (TGGAA)n, (TAGAA)n, (TAAAA)n and (TAAAATAGAA)n within a shared intronic region 1. The pathogenic (TGGAA)n repeat is bidirectionally transcribed as a non-coding RNA exclusively in brain tissue, forming abnormal secondary structures called RNA foci in cerebellar Purkinje cell nuclei 2. These toxic (UGGAA)n-containing transcripts bind to RNA-binding proteins including TDP-43, FUS, and hnRNP A2/B1, with toxicity that is length- and expression level-dependent 3. TDP-43 functions as an RNA chaperone to mitigate this toxicity by resolving abnormal RNA structures 3. SCA31 presents as progressive cerebellar ataxia with Purkinje cell-predominant neurodegeneration 1. The repeat expansions at BEAN1 are occasionally detected in other neurodegenerative contexts, though without clear pathogenic association in Parkinson's disease or ALS cohorts 45. Therapeutic strategies targeting RNA-binding protein function represent promising approaches for SCA31 management 3.

Sources cited
1
BEAN1 location, intronic pentanucleotide repeat structure in SCA31, brain-specific expression, and RNA foci formation
PMID: 36319738
2
BEAN1-direction (UGGAA)n repeat forms RNA foci in Purkinje cell nuclei and exhibits toxicity in cultured cells
PMID: 23607545
3
Pathogenic repeat binding to TDP-43, FUS, hnRNP A2/B1; TDP-43 as RNA chaperone; length- and expression-dependent toxicity
PMID: 31755042
4
BEAN1 repeat expansions screened in Parkinson's disease cohort with no pathogenic expansions detected
PMID: 40765612
5
BEAN1 motif changes identified in ALS cohort but not linked to disease susceptibility
PMID: 41426430
Disease Associationsⓘ21
spinocerebellar ataxia type 31Open Targets
0.50Moderate
ShockOpen Targets
0.26Weak
readingOpen Targets
0.07Suggestive
Benign familial choreaOpen Targets
0.07Suggestive
cancerOpen Targets
0.06Suggestive
immunodeficiency 88Open Targets
0.06Suggestive
eosinophil peroxidase deficiencyOpen Targets
0.05Suggestive
Ataxia - oculomotor apraxia type 1Open Targets
0.05Suggestive
linear and whorled nevoid hypermelanosisOpen Targets
0.05Suggestive
chronic myeloproliferative disorderOpen Targets
0.05Suggestive
early-onset generalized limb-onset dystoniaOpen Targets
0.05Suggestive
spastic paraplegia 72b, autosomal recessiveOpen Targets
0.05Suggestive
temporomandibular joint disorderOpen Targets
0.05Suggestive
neutropenia, severe congenital, 2, autosomal dominantOpen Targets
0.04Suggestive
combined immunodeficiency with skin granulomasOpen Targets
0.04Suggestive
neutropenia, severe congenital, 1, autosomal dominantOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
ichthyosis prematurity syndromeOpen Targets
0.04Suggestive
pancreatic adenocarcinomaOpen Targets
0.04Suggestive
reticular dysgenesisOpen Targets
0.04Suggestive
Spinocerebellar ataxia 31UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PLEKHG4Protein interaction79%SRSF9Protein interaction76%
Tissue Expression6 tissues
Brain
100%
Ovary
83%
Liver
73%
Heart
46%
Lung
45%
Bone Marrow
11%
Gene Interaction Network
Click a node to explore
BEAN1PLEKHG4SRSF9
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q3B7T3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.45LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.97 [0.66–1.45]
RankingsWhere BEAN1 stands among ~20K protein-coding genes
  • #14,645of 20,598
    Most Researched18
  • #14,856of 17,882
    Most Constrained (LOEUF)1.45
Genes detectedBEAN1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Non-coding repeat analyses in patients with Parkinson's disease.
PMID: 40765612
Front Neurol · 2025
1.00
2
The role of disease-associated short tandem repeats in amyotrophic lateral sclerosis.
PMID: 41426430
Brain Commun · 2025
0.90
3
Spinocerebellar ataxia type 31 (SCA31).
PMID: 36319738
J Hum Genet · 2023
0.80
4
Urinary estrogen metabolites in two soy trials with premenopausal women.
PMID: 22713773
Eur J Clin Nutr · 2012
0.70
5
Molecular Mechanisms and Future Therapeutics for Spinocerebellar Ataxia Type 31 (SCA31).
PMID: 31755042
Neurotherapeutics · 2019
0.60