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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RHOXF1
Rhox homeobox family member 1
Chromosome X · Xq24
NCBI Gene: 158800Ensembl: ENSG00000101883.7HGNC: HGNC:29993UniProt: Q8NHV9
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
androgen receptor signaling pathwaynucleoplasmpositive regulation of gene expressionnucleusazoospermiapartial chromosome Y deletionspermatogenic failure 8spermatogenic failure 1
✦AI Summary

RHOXF1 (Rhox homeobox family member 1) is an X-linked transcription factor that plays a critical role in male reproductive biology and germ cell development. RHOXF1 is selectively expressed in reproductive tissues, specifically in pachytene spermatocytes and round spermatids in adult testes, and in prespermatogonia during fetal testicular development 1. The protein functions as a sequence-specific DNA-binding transcription factor that regulates genes involved in spermatogenesis, including stress protection and cell survival pathways 2. RHOXF1 can regulate the promoter activity of DMRT1, a key transcription factor in spermatogenesis 3. Disease relevance is significant, as deleterious variants in RHOXF1 cause male infertility with oligozoospermia and azoospermia 3. Multiple mutations have been identified in infertile men, including missense variants that impair protein function and cellular localization 23. Beyond reproduction, RHOXF1 shows oncogenic properties by regulating BCL2 expression and promoting cancer cell survival 4. Clinically, RHOXF1 mutations represent a monogenic cause of male infertility, and intracytoplasmic sperm injection (ICSI) may benefit patients with RHOXF1-associated oligozoospermia 3.

Sources cited
1
RHOXF1 is selectively expressed in pachytene spermatocytes, round spermatids, and fetal prespermatogonia
PMID: 23482336
2
RHOXF1 regulates genes involved in spermatogenesis including stress protection and cell survival
PMID: 28171660
3
Deleterious RHOXF1 variants cause male infertility and can regulate DMRT1 promoter activity
PMID: 38258527
4
RHOXF1 regulates BCL2 expression and promotes cancer cell survival
PMID: 23317270
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
azoospermiaOpen Targets
0.10Suggestive
partial chromosome Y deletionOpen Targets
0.08Suggestive
spermatogenic failure 8Open Targets
0.07Suggestive
spermatogenic failure 1Open Targets
0.07Suggestive
spermatogenic failure 25Open Targets
0.07Suggestive
spermatogenic failure 54Open Targets
0.07Suggestive
spermatogenic failure 51Open Targets
0.07Suggestive
spermatogenic failure 48Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.07Suggestive
spermatogenic failure 40Open Targets
0.07Suggestive
spermatogenic failure 76Open Targets
0.07Suggestive
spermatogenic failure 80Open Targets
0.07Suggestive
spermatogenic failure 63Open Targets
0.07Suggestive
spermatogenic failure 47Open Targets
0.07Suggestive
spermatogenic failure 71Open Targets
0.07Suggestive
spermatogenic failure 39Open Targets
0.07Suggestive
spermatogenic failure 22Open Targets
0.07Suggestive
spermatogenic failure 84Open Targets
0.07Suggestive
spermatogenic failure 93Open Targets
0.07Suggestive
spermatogenic failure 65Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RHOXF2BShared pathway67%RHOXF2Shared pathway52%ALX3Shared pathway33%ISXShared pathway33%DRGXShared pathway33%ARXShared pathway33%
Tissue Expression6 tissues
Ovary
100%
Liver
25%
Brain
12%
Lung
10%
Bone Marrow
2%
Heart
0%
Gene Interaction Network
Click a node to explore
RHOXF1RHOXF2BRHOXF2ALX3ISXDRGXARX
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8NHV9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.49Moderately Constrained
pLIⓘ
0.95Intolerant
Observed/Expected LoF0.10 [0.04–0.49]
RankingsWhere RHOXF1 stands among ~20K protein-coding genes
  • #14,519of 20,598
    Most Researched19
  • #2,868of 17,882
    Most Constrained (LOEUF)0.49 · top quartile
Genes detectedRHOXF1
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
The RHOX homeobox gene cluster is selectively expressed in human oocytes and male germ cells.
PMID: 23482336
Hum Reprod · 2013
0.90
3
Deleterious variants in X-linked RHOXF1 cause male infertility with oligo- and azoospermia.
PMID: 38258527
Mol Hum Reprod · 2024
0.80
4
shRNA mediated RHOXF1 silencing influences expression of BCL2 but not CASP8 in MCF-7 and MDA-MB-231 cell lines.
PMID: 23317270
Asian Pac J Cancer Prev · 2012
0.70
5
EIF5A2 specifically regulates the transcription of aging-related genes in human neuroblastoma cells.
PMID: 36750933
BMC Geriatr · 2023
0.60