FRY Gene - FRY Microtubule Binding Protein
Comprehensive genomic and functional analysis of the FRY gene, including its role in cell division, associated diseases, expression patterns, and mutations.
Gene Information Card
| Symbol | FRY |
|---|---|
| Full Name | FRY microtubule binding protein |
| Gene Type | protein-coding |
| Chromosomal Location | 13q13.1 |
| NCBI Gene ID | 10129 ncbi.nlm.nih.gov/gene/10129 |
| Ensembl ID | ENSG00000102547 |
| UniProt ID | Q5T890 |
| OMIM ID | 616515 |
| HGNC ID | 20367 |
| Aliases | furry homolog (Drosophila), bA108K14.1, FLJ20036, KIAA0626 |
Description
The FRY gene encodes a microtubule-binding protein that is the human homolog of the Drosophila furry protein. It plays a critical role in cell division, specifically in mitotic spindle organization and cytokinesis. FRY is involved in the regulation of microtubule dynamics and is essential for proper chromosome segregation. Mutations and altered expression of FRY have been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered FRY expression contributes to chromosomal instability and aneuploidy via defective mitotic spindle organization. | PMID: 23503656 |
| Breast cancer | FRY downregulation is associated with poor prognosis and increased genomic instability. | PMID: 27197185 |
| Hepatocellular carcinoma | FRY mutations and reduced expression correlate with tumor progression and metastasis. | PMID: 28891408 |
| Primary microcephaly | Biallelic loss-of-function mutations in FRY cause autosomal recessive primary microcephaly due to impaired neurogenesis. | PMID: 31006510 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Colon | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| HEK 293 | 8.7 | Embryonic kidney cells |
| MCF7 | 6.5 | Breast cancer cell line |
| HepG2 | 5.2 | Hepatocellular carcinoma cell line |
| A549 | 4.8 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; associated with microcephaly |
| c.567_568insA (p.Glu190fs) | Frameshift | <0.1% | Loss of function; associated with microcephaly |
| c.2345G>A (p.Arg782His) | Missense | 0.2% | Unknown significance; reported in cancer |
| c.3456_3457del (p.Leu1152fs) | Frameshift | <0.1% | Loss of function; reported in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in FRY result in truncated or absent protein, leading to defective microtubule binding, mitotic spindle abnormalities, and chromosomal instability. These are associated with primary microcephaly and cancer.
Gain of Function (GOF)
No gain-of-function mutations have been reported for FRY.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for FRY.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding (GO:0008017) | • centrosome (GO:0005813) |
| • microtubule (GO:0005874) | • chromosome segregation (GO:0007059) |
| • cytokinesis (GO:0000910) | • cell division (GO:0051301) |
Pathways
• REACT:14797 - Mitotic spindle organization
• REACT:15382 - Cytokinesis
• REACT:21333 - Cell cycle
Protein Summary
The FRY protein is a large, microtubule-binding protein (approximately 300 kDa) that localizes to the centrosome and spindle poles during mitosis. It is essential for proper mitotic spindle assembly and cytokinesis. FRY interacts with other microtubule-associated proteins and regulates microtubule stability. Loss of FRY function leads to mitotic defects, aneuploidy, and genomic instability, which are hallmarks of cancer and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FRY Knockout HEK293 Cell Line | EDJ-KQ6281 | Human | 10129 | Details Get a Quote |
| FRYL Knockout HEK293 Cell Line | EDJ-KQ7791 | Human | 285527 | Details Get a Quote |
| FRYL Knockout HeLa Cell Line | EDJ-KQ31963 | Human | 285527 | Details Get a Quote |
| FRY Knockout HeLa Cell Line | EDJ-KQ31552 | Human | 10129 | Details Get a Quote |
| FRYL Knockout A-549 Cell Line | EDJ-KQ33285 | Human | 285527 | Details Get a Quote |
| FRYL Knockout HCT 116 Cell Line | EDJ-KQ33286 | Human | 285527 | Details Get a Quote |
| FRY Knockout A-549 Cell Line | EDJ-KQ63807 | Human | 10129 | Details Get a Quote |
| FRY Knockout HCT 116 Cell Line | EDJ-KQ72266 | Human | 10129 | Details Get a Quote |
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