FOXS1: Forkhead Box S1 Gene
A comprehensive genomic resource for FOXS1, including gene information, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | FOXS1 |
|---|---|
| Full Name | Forkhead Box S1 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q11.21 |
| NCBI Gene ID | 2307 ncbi.nlm.nih.gov/gene/2307 |
| Ensembl ID | ENSG00000101442 |
| UniProt ID | O43638 |
| OMIM ID | 602939 |
| HGNC ID | 3812 |
| Aliases | FKHL18, FOXS1, MGC138217 |
Description
FOXS1 (Forkhead Box S1) is a protein-coding gene that encodes a member of the forkhead box (FOX) family of transcription factors. These proteins are characterized by a conserved forkhead DNA-binding domain and play roles in development, metabolism, and cellular differentiation. FOXS1 is involved in the regulation of gene expression and has been implicated in craniofacial development and immune system function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Craniofacial anomalies | FOXS1 mutations may disrupt transcription factor function, affecting developmental gene expression | Limited evidence; case reports and functional studies suggest association |
| Immunodeficiency | Potential role in immune cell differentiation via transcriptional regulation | Inferred from expression data and animal models; not yet confirmed in large cohorts |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 10.2 | Medium |
| Spleen | 8.5 | Medium |
| Bone marrow | 6.1 | Low |
| Thymus | 5.3 | Low |
| Lung | 2.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 12.3 | Leukemia cell line; moderate expression |
| HeLa | 3.1 | Cervical carcinoma; low expression |
| A549 | 1.8 | Lung carcinoma; very low expression |
| HEK 293 | 0.9 | Embryonic kidney; not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.502C>T (p.Arg168Trp) | Missense | Rare | Unknown functional effect; predicted damaging by in silico tools |
| c.763G>A (p.Gly255Ser) | Missense | Rare | Unknown functional effect; no clinical significance reported |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in FOXS1.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in FOXS1.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in FOXS1.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity (GO:0003700) | • nucleus (GO:0005634) |
| • regulation of transcription (GO:0006355) | • positive regulation of transcription by RNA polymerase II (GO:0045944) |
Pathways
• No specific pathways curated for FOXS1 in major databases.
Protein Summary
FOXS1 encodes a 331-amino acid protein containing a forkhead DNA-binding domain. It localizes to the nucleus and functions as a transcription factor, regulating target genes involved in development and immune cell function. The protein is expressed predominantly in lymphoid tissues such as lymph node and spleen. Structural studies are limited, but the forkhead domain is highly conserved among FOX family members.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FOXS1 Knockout HEK293 Cell Line | EDJ-KQ4609 | Human | 2307 | Details Get a Quote |
| FOXS1 Knockout A-549 Cell Line | EDJ-KQ27279 | Human | 2307 | Details Get a Quote |
| FOXS1 Knockout HeLa Cell Line | EDJ-KQ27280 | Human | 2307 | Details Get a Quote |
| FOXS1 Knockout HCT 116 Cell Line | EDJ-KQ70214 | Human | 2307 | Details Get a Quote |
