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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FRY
FRY microtubule binding protein
Chromosome 13 · 13q13.1
NCBI Gene: 10129Ensembl: ENSG00000073910.23HGNC: HGNC:20367UniProt: A0A286YFA9
31PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
site of polarized growthneuron projection developmentcell morphogenesiscell cortexschizophreniasmoking initiationhypothyroidismliver disease
✦AI Summary

FRY (FRY microtubule binding protein) is a conserved Furry family protein essential for proper cellular and organismal development. Functionally, FRY plays a crucial role in maintaining mitotic centrosome structural integrity and spindle bipolarity by promoting PLK1 activity at spindle poles during early mitosis, potentially functioning as a scaffold that enhances AURKA-mediated PLK1 phosphorylation. Beyond mitotic functions, FRY is expressed in multiple tissues including the central nervous system, where it is localized to neurons, and is required for proper development of neural and sensory structures. Loss-of-function variants in FRYL, the human ortholog, are associated with a dominant developmental disorder characterized by developmental delay, intellectual disability, dysmorphic features, and congenital anomalies affecting multiple organ systems 1. Animal models demonstrate that complete loss of FRY function is lethal at various developmental stages, while tissue-specific loss causes defects in wing and eye development 1. The protein appears to function through haploinsufficiency, where partial loss of function impairs normal development. These findings establish FRY as an intolerant-to-loss-of-function protein critical for both cell division machinery and neural development, with clinical relevance to neurodevelopmental disorders.

Sources cited
1
De novo FRYL variants cause developmental delay, intellectual disability, and dysmorphic features; FRY is required for proper development and is intolerant to loss of function; fly fry is expressed in neurons and loss causes developmental defects
PMID: 38479391
⚠Limited data available — This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsⓘ20
schizophreniaOpen Targets
0.41Moderate
smoking initiationOpen Targets
0.33Weak
hypothyroidismOpen Targets
0.29Weak
liver diseaseOpen Targets
0.29Weak
ankylosing spondylitisOpen Targets
0.27Weak
glomerulonephritisOpen Targets
0.25Weak
complicationOpen Targets
0.20Weak
squamous cell carcinomaOpen Targets
0.19Weak
medical procedureOpen Targets
0.19Weak
Abnormality of refractionOpen Targets
0.19Weak
actinic keratosisOpen Targets
0.19Weak
autosomal recessive non-syndromic intellectual disabilityOpen Targets
0.18Weak
placenta praeviaOpen Targets
0.18Weak
hyperlipidemiaOpen Targets
0.17Weak
metabolic diseaseOpen Targets
0.17Weak
squamous cell lung carcinomaOpen Targets
0.17Weak
benign urinary system neoplasmOpen Targets
0.06Suggestive
breast cancerOpen Targets
0.05Suggestive
gastritisOpen Targets
0.05Suggestive
hypertensionOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FRYLShared pathway100%GPRIN3Shared pathway50%GPRIN1Shared pathway50%GPRIN2Shared pathway50%LRATD1Shared pathway33%CDNFShared pathway33%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
33%
Lung
27%
Brain
23%
Liver
19%
Ovary
10%
Gene Interaction Network
Click a node to explore
FRYFRYLGPRIN3GPRIN1GPRIN2LRATD1CDNF
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5TBA9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.43Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.36 [0.30–0.43]
RankingsWhere FRY stands among ~20K protein-coding genes
  • #11,711of 20,598
    Most Researched31
  • #2,298of 17,882
    Most Constrained (LOEUF)0.43 · top quartile
Genes detectedFRY
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
PMID: 38479391
Am J Hum Genet · 2024
1.00
2
The CD19neg needle in the haystack.
PMID: 35797020
Blood · 2022
0.90
3
Care Transformation: It Is Our Mission.
PMID: 35450581
J Am Coll Cardiol · 2022
0.80
4
Association Between Nutrition, Diet Quality, Dietary Patterns, and Human Health and Diseases.
PMID: 39796437
Nutrients · 2024
0.70
5
Introduction: Immunological Reviews volume 290.
PMID: 31355490
Immunol Rev · 2019
0.60