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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
FBRS
fibrosin
Chromosome 16 Β· 16p11.2
NCBI Gene: 64319Ensembl: ENSG00000156860.16HGNC: HGNC:20442UniProt: B3KTZ7
55PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
DATA QUALITY
βœ“ Swiss-Prot Reviewed
Short statureneurodegenerative diseasemultiple myelomamonoclonal gammopathy
✦AI Summary

Insufficient information available. The provided PubMed abstracts do not contain relevant data supporting a gene function summary for FBRS (fibrosin). While one abstract 1 mentions FBRS as part of the AUTS2 gene family alongside FBRSL1 and AUTS2, it provides only minimal functional details: FBRS is described as 'evolutionarily more distantly related' to AUTS2 and FBRSL1, with the latter two genes potentially involved in neurogenesis and transcriptional regulation. The abstract explicitly states that FBRSL1's 'precise role remains unclear' and does not elaborate on FBRS-specific functions. The remaining abstracts address unrelated topics including sound localization acoustics 23, orthodontic retention methods 4, adolescent nutrition 5, silicone implant fibrosis 6, and foreign body responses to biomaterials 78, none of which concern FBRS gene function. To provide an accurate gene function summary for FBRS, abstracts specifically investigating FBRS expression, protein structure, molecular mechanisms, or disease associations would be required.

Sources cited
1
FBRS is part of the AUTS2 gene family, evolutionarily more distantly related to AUTS2 and FBRSL1 than these are to each other, with limited information about its specific functional role
PMID: 39062605
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
Short statureOpen Targets
0.34Weak
neurodegenerative diseaseOpen Targets
0.32Weak
multiple myelomaOpen Targets
0.06Suggestive
monoclonal gammopathyOpen Targets
0.05Suggestive
Crigler-Najjar syndrome type 2Open Targets
0.04Suggestive
hemolytic anemia due to glutathione reductase deficiencyOpen Targets
0.04Suggestive
neonatal intrahepatic cholestasis due to citrin deficiencyOpen Targets
0.04Suggestive
infectionOpen Targets
0.04Suggestive
Rotor syndromeOpen Targets
0.04Suggestive
hereditary hyperferritinemia with congenital cataractsOpen Targets
0.04Suggestive
Genetic hyperferritinemia without iron overloadOpen Targets
0.04Suggestive
pseudohyperaldosteronism type 2Open Targets
0.03Suggestive
transient familial neonatal hyperbilirubinemiaOpen Targets
0.03Suggestive
progressive familial intrahepatic cholestasisOpen Targets
0.03Suggestive
gluthathione peroxidase deficiencyOpen Targets
0.03Suggestive
fungal infectious diseaseOpen Targets
0.03Suggestive
galactosemia 4Open Targets
0.03Suggestive
glucocorticoid-remediable aldosteronismOpen Targets
0.03Suggestive
hypercholanemia, familial, 2Open Targets
0.03Suggestive
Nasal Cavity PolypOpen Targets
0.03Suggestive
Pathogenic Variants2
NM_001105079.3(FBRS):c.2137G>A (p.Gly713Ser)Likely pathogenic
Short stature
β˜†β˜†β˜†β˜†2001β†’ Residue 713
NM_001105079.3(FBRS):c.2896C>G (p.Pro966Ala)Likely pathogenic
Short stature
β˜†β˜†β˜†β˜†2001β†’ Residue 966
View on ClinVar β†—
Related Genes
PCGF6Protein interaction100%PCGF5Protein interaction92%RNF2Protein interaction91%DCAF7Protein interaction89%RING1Protein interaction82%CSNK2A1Protein interaction79%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
59%
Lung
55%
Liver
41%
Brain
32%
Heart
20%
Gene Interaction Network
Click a node to explore
FBRSPCGF6PCGF5RNF2DCAF7RING1CSNK2A1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9HAH7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.35Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.23 [0.15–0.35]
RankingsWhere FBRS stands among ~20K protein-coding genes
  • #8,199of 20,598
    Most Researched55
  • #4,417of 5,498
    Most Pathogenic Variants2
  • #1,569of 17,882
    Most Constrained (LOEUF)0.35 Β· top 10%
Genes detectedFBRS
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Randomizing spectral cues used to resolve front-back reversals in sound-source localization.
PMID: 37540095
J Acoust Soc Am Β· 2023
1.00
2
De Novo Pathogenic Variant in
PMID: 39062605
Genes (Basel) Β· 2024
0.90
3
Can vacuum-formed retainers maintain arch dimensions and alignment compared to Hawley and fixed bonded retainers after treatment with fixed appliances? A systematic review and meta-analysis.
PMID: 39177154
Eur J Orthod Β· 2024
0.80
4
Exploring the potential of meeting adolescent girls' nutrient needs in urban Colombia using food-based recommendations.
PMID: 37589163
Ann N Y Acad Sci Β· 2023
0.70
5
SMI-Capsular Fibrosis and Biofilm Dynamics: Molecular Mechanisms, Clinical Implications, and Antimicrobial Approaches.
PMID: 39519227
Int J Mol Sci Β· 2024
0.60