RHOXF2B Gene - Reproductive Homeobox on X Chromosome, Family 2B
Comprehensive genomic and functional overview of RHOXF2B
Gene Information Card
| Symbol | RHOXF2B |
|---|---|
| Full Name | Rhox homeobox family member 2B |
| Gene Type | protein-coding |
| Chromosomal Location | Xq24 |
| NCBI Gene ID | 100130890 ncbi.nlm.nih.gov/gene/100130890 |
| Ensembl ID | ENSG00000203872 |
| UniProt ID | A6NMT0 |
| OMIM ID | 300857 |
| HGNC ID | 33916 |
| Aliases | RHOXF2, RHOXF2A, PEPP2 |
Description
RHOXF2B (Rhox homeobox family member 2B) is a protein-coding gene located on the X chromosome at Xq24. It belongs to the reproductive homeobox (RHOX) gene cluster, which encodes transcription factors involved in reproductive development and function. RHOXF2B is predominantly expressed in testis and plays a role in spermatogenesis and male fertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Altered expression or mutation may disrupt spermatogenesis | Limited; inferred from family member RHOXF2 and expression studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Prostate | 0.8 | Low |
| Fallopian tube | 0.5 | Low |
| Other tissues | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.0 | Not expressed |
| K562 | 0.0 | Not expressed |
| Testicular germ cell tumors | 5.2 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | SNV | <0.01% | Likely benign |
| c.100C>T | SNV | <0.01% | Missense, uncertain significance |
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) |
| • male gonad development (GO:0008584) |
Pathways
• Reproductive homeobox transcription factor network
Protein Summary
RHOXF2B encodes a homeobox-containing transcription factor (UniProt A6NMT0) of 263 amino acids. It localizes to the nucleus and binds DNA to regulate gene expression during spermatogenesis. The protein shares high similarity with RHOXF2 and is part of the X-linked RHOX gene cluster critical for male fertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RHOXF2B Knockout HEK293 Cell Line | EDJ-KQ15066 | Human | 727940 | Details Get a Quote |
| RHOXF2B Knockout HeLa Cell Line | EDJ-KQ60684 | Human | 727940 | Details Get a Quote |
| RHOXF2B Knockout A-549 Cell Line | EDJ-KQ69158 | Human | 727940 | Details Get a Quote |
| RHOXF2B Knockout HCT 116 Cell Line | EDJ-KQ77511 | Human | 727940 | Details Get a Quote |
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