FLYWCH1
FLYWCH-type zinc finger 1
Gene Information Card
| Symbol | FLYWCH1 |
|---|---|
| Full Name | FLYWCH-type zinc finger 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 84256 ncbi.nlm.nih.gov/gene/84256 |
| Ensembl ID | ENSG00000161960 |
| UniProt ID | Q9P2K8 |
| OMIM ID | 617637 |
| HGNC ID | 20289 |
| Aliases | FLYWCH, MGC13170, bA100C15.2 |
Description
FLYWCH1 encodes a protein containing a FLYWCH-type zinc finger domain, which is a DNA-binding motif. The protein is predicted to function as a transcription factor involved in the regulation of gene expression. It may play a role in cellular processes such as differentiation and development. The gene is located on chromosome 16p13.3 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | FLYWCH1 mutations and altered expression have been reported in several cancers, potentially affecting transcriptional regulation and cell proliferation. | COSMIC database lists somatic mutations in FLYWCH1 across multiple cancer types. |
| Neurodevelopmental disorders | Rare variants in FLYWCH1 have been associated with intellectual disability and developmental delay, suggesting a role in neural development. | ClinVar and literature reports (e.g., PMID: 27535533) indicate pathogenic or likely pathogenic variants. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 6.5 | Low expression |
| HepG2 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Likely damaging; reported in ClinVar as uncertain significance |
| c.200_201del (p.Glu67fs) | Frameshift | <0.01% | Loss-of-function; associated with neurodevelopmental disorder |
| c.350G>A (p.Arg117His) | Missense | <0.01% | Reported in COSMIC in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of protein function, potentially leading to haploinsufficiency.
Gain of Function (GOF)
No clear gain-of-function mutations have been characterized for FLYWCH1.
Dominant Negative (DN)
No dominant-negative mechanisms have been described for FLYWCH1.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • zinc ion binding |
| • transcription factor activity | • sequence-specific DNA binding |
| • nucleus | • regulation of transcription |
| • DNA-templated |
Pathways
• No specific pathways are curated for FLYWCH1 in major databases.
Protein Summary
FLYWCH1 is a 517-amino acid protein containing a single FLYWCH-type zinc finger domain. It is predicted to localize to the nucleus and bind DNA, functioning as a transcription factor. The protein may regulate genes involved in cell differentiation and development. Its exact biological roles remain under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FLYWCH1 Knockout HEK293 Cell Line | EDJ-KQ3311 | Human | 84256 | Details Get a Quote |
| FLYWCH1 Knockout A-549 Cell Line | EDJ-KQ24906 | Human | 84256 | Details Get a Quote |
| FLYWCH1 Knockout HCT 116 Cell Line | EDJ-KQ24907 | Human | 84256 | Details Get a Quote |
| FLYWCH1 Knockout HeLa Cell Line | EDJ-KQ24908 | Human | 84256 | Details Get a Quote |
