RHOXF2
Rhox Homeobox Family Member 2
Gene Information Card
| Symbol | RHOXF2 |
|---|---|
| Full Name | Rhox Homeobox Family Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq24 |
| NCBI Gene ID | 84525 ncbi.nlm.nih.gov/gene/84525 |
| Ensembl ID | ENSG00000132170 |
| UniProt ID | Q9BQY4 |
| OMIM ID | 300452 |
| HGNC ID | 18467 |
| Aliases | PEPP2, RHOXF2B |
Description
RHOXF2 (Rhox Homeobox Family Member 2) is a protein-coding gene belonging to the Rhox homeobox gene cluster on the X chromosome. It encodes a transcription factor containing a homeobox DNA-binding domain, primarily expressed in the testis and placenta. RHOXF2 is involved in spermatogenesis and male fertility, and its dysregulation has been implicated in certain cancers and reproductive disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Altered expression may disrupt spermatogenesis | Limited; expression studies in testis |
| Testicular germ cell tumors | Aberrant RHOXF2 expression in tumor tissues | Expression profiling studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Placenta | 3.2 | Low |
| Prostate | 1.1 | Low |
| Ovary | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (embryonal carcinoma) | 15.3 | High expression |
| HeLa | 0.5 | Low expression |
| HEK 293 | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of start codon |
| c.325C>T (p.Arg109Trp) | Missense | Rare | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity (GO:0003700) | • Sequence-specific DNA binding (GO:0043565) |
| • Nucleus (GO:0005634) | • DNA-templated (GO:0006355) |
| • Spermatogenesis (GO:0007283) |
Pathways
• Homeobox gene regulation of development
• X-chromosome gene expression in male reproduction
Protein Summary
RHOXF2 is a 217-amino acid homeobox transcription factor localized to the nucleus. It contains a conserved homeodomain that binds DNA and regulates target genes involved in spermatogenesis and placental development. The protein is predominantly expressed in testicular germ cells and is thought to play a role in male fertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RHOXF2 Knockout HEK293 Cell Line | EDJ-KQ10111 | Human | 84528 | Details Get a Quote |
| RHOXF2B Knockout HEK293 Cell Line | EDJ-KQ15066 | Human | 727940 | Details Get a Quote |
| RHOXF2 Knockout HeLa Cell Line | EDJ-KQ57609 | Human | 84528 | Details Get a Quote |
| RHOXF2B Knockout HeLa Cell Line | EDJ-KQ60684 | Human | 727940 | Details Get a Quote |
| RHOXF2 Knockout A-549 Cell Line | EDJ-KQ66107 | Human | 84528 | Details Get a Quote |
| RHOXF2B Knockout A-549 Cell Line | EDJ-KQ69158 | Human | 727940 | Details Get a Quote |
| RHOXF2 Knockout HCT 116 Cell Line | EDJ-KQ74527 | Human | 84528 | Details Get a Quote |
| RHOXF2B Knockout HCT 116 Cell Line | EDJ-KQ77511 | Human | 727940 | Details Get a Quote |
Displaying Records 1 To 8 Of 8 Records
