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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RHOXF2
Rhox homeobox family member 2
Chromosome X · Xq24
NCBI Gene: 84528Ensembl: ENSG00000131721.6HGNC: HGNC:30011UniProt: Q9BQY4
33PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingidentical protein bindingpositive regulation of gene expressionsequence-specific double-stranded DNA bindingneurodegenerative diseaseneoplasmsquamous cell carcinomagastric cancer
✦AI Summary

RHOXF2 (Rhox homeobox family member 2) is an X-linked transcription factor that plays critical roles in male reproduction and germ cell development. The gene is selectively expressed in human reproductive tissues, with stage-specific expression during spermatogenesis - early germ cells (spermatogonia and early spermatocytes) express RHOXF2/2B, while it is also present in prespermatogonia during fetal testis development 1. RHOXF2 functions by regulating downstream target genes involved in spermatogenesis-related processes including stress protection and cell survival 2. Notably, RHOXF2 exhibits cross-regulatory behavior by targeting RHOXF1, suggesting coordinated transcriptional responses within the RHOX gene cluster 2. The gene has undergone rapid evolution in primates under strong positive selection pressure, with evidence of copy number variation and ongoing selection in human populations 3. Clinically, RHOXF2 mutations have been identified in infertile men with severe oligozoospermia, with functional analysis demonstrating that specific variants (c.202G > A and c.679G > A) significantly impair the protein's ability to regulate downstream genes 2. Additionally, RHOXF2 functions in genome defense by suppressing LINE1 transposition in the male germline, potentially through regulation of the Piwi-interacting RNA pathway 4. Beyond reproduction, RHOXF2 has been implicated in cancer progression, functioning as an oncogene in various malignancies 56.

Sources cited
1
RHOXF2 regulates genes involved in spermatogenesis-related processes and cross-regulates RHOXF1; mutations impair function in infertile men
PMID: 28171660
2
RHOXF2 is selectively expressed in reproductive tissues with stage-specific expression during spermatogenesis
PMID: 23482336
3
RHOXF2 has undergone rapid evolution in primates under positive selection with copy number variation
PMID: 21988730
4
RHOXF2 suppresses LINE1 transposition in the male germline for genome defense
PMID: 34083437
5
RHOXF2 functions as an oncogene in cancer progression
PMID: 21874235
6
RHOXF2 promotes triple negative breast cancer progression through Wnt2/β-catenin pathway
PMID: 38697448
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
neoplasmOpen Targets
0.07Suggestive
squamous cell carcinomaOpen Targets
0.06Suggestive
gastric cancerOpen Targets
0.04Suggestive
cancerOpen Targets
0.03Suggestive
triple-negative breast cancerOpen Targets
0.03Suggestive
esophageal squamous cell carcinomaOpen Targets
0.02Suggestive
leukemiaOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
FibroadenomaOpen Targets
0.01Suggestive
chronic myelogenous leukemiaOpen Targets
0.01Suggestive
acute promyelocytic leukemiaOpen Targets
0.01Suggestive
adenocarcinomaOpen Targets
0.01Suggestive
chondrosarcomaOpen Targets
0.01Suggestive
medullary thyroid gland carcinomaOpen Targets
0.01Suggestive
multiple myelomaOpen Targets
0.01Suggestive
infertilityOpen Targets
0.01Suggestive
lung cancerOpen Targets
0.01Suggestive
myeloid leukemiaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RHOXF2BShared pathway100%DAZAP2Protein interaction75%ZBTB32Protein interaction71%RHOXF1Shared pathway52%ALX3Shared pathway50%DRGXShared pathway50%
Tissue Expression6 tissues
Brain
0%
Heart
0%
Ovary
0%
Lung
0%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
RHOXF2RHOXF2BDAZAP2ZBTB32RHOXF1ALX3DRGX
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9BQY4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.68LoF Tolerant
pLIⓘ
0.82Intermediate
Observed/Expected LoF0.22 [0.09–0.68]
RankingsWhere RHOXF2 stands among ~20K protein-coding genes
  • #11,398of 20,598
    Most Researched33
  • #5,028of 17,882
    Most Constrained (LOEUF)0.68
Genes detectedRHOXF2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The human RHOX gene cluster: target genes and functional analysis of gene variants in infertile men.
PMID: 28171660
Hum Mol Genet · 2016
1.00
2
Rapid evolution and copy number variation of primate RHOXF2, an X-linked homeobox gene involved in male reproduction and possibly brain function.
PMID: 21988730
BMC Evol Biol · 2011
0.90
3
The RHOX homeobox gene cluster is selectively expressed in human oocytes and male germ cells.
PMID: 23482336
Hum Reprod · 2013
0.80
4
H3K27ac-induced RHOXF2 activates Wnt2/β-catenin pathway by binding to HOXC13 to aggravate the malignant progression of triple negative breast cancer.
PMID: 38697448
Cell Signal · 2024
0.70
5
The
PMID: 34083437
Proc Natl Acad Sci U S A · 2021
0.60