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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NXF2B
nuclear RNA export factor 2B
Chromosome X Β· Xq22.1
NCBI Gene: 728343Ensembl: ENSG00000269405.7HGNC: HGNC:23984UniProt: Q9GZY0
17PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Swiss-Prot Reviewed
neurodegenerative diseaseazoospermiapartial chromosome Y deletionspermatogenic failure 63
✦AI Summary

Based on limited published evidence, NXF2B (nuclear RNA export factor 2B) is located on chromosome X and belongs to the nuclear RNA export factor gene cluster. Its primary predicted function relates to nuclear RNA export. NXF2B was identified as part of a disrupted NXF gene cluster in a patient with X-chromosome X (Xq22.1β†’q24), associated with mental retardation, short stature, and premature ovarian failure 1. The gene also co-occurs with alterations in TLX2 in pan-cancer analyses, suggesting potential involvement in cancer-related pathways 2. However, specific molecular functions and mechanisms remain to be elucidated.

Sources cited
1
NXF2B is part of the NXF gene cluster on Xq22.1-q24; disruption of this cluster through duplication is associated with mental retardation, short stature, and premature ovarian failure
PMID: 22030050
2
NXF2B alterations co-occur with TLX2 alterations in pan-cancer analysis, potentially linking it to cancer progression pathways
PMID: 37758722
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.50Moderate
azoospermiaOpen Targets
0.09Suggestive
partial chromosome Y deletionOpen Targets
0.08Suggestive
spermatogenic failure 63Open Targets
0.08Suggestive
spermatogenic failure 25Open Targets
0.07Suggestive
spermatogenic failure 57Open Targets
0.07Suggestive
spermatogenic failure 50Open Targets
0.07Suggestive
isochromosomy YpOpen Targets
0.07Suggestive
spermatogenic failure 84Open Targets
0.07Suggestive
spermatogenic failure 93Open Targets
0.07Suggestive
spermatogenic failure 71Open Targets
0.07Suggestive
spermatogenic failure 56Open Targets
0.07Suggestive
spermatogenic failure 92Open Targets
0.07Suggestive
spermatogenic failure 94Open Targets
0.07Suggestive
spermatogenic failure 65Open Targets
0.07Suggestive
spermatogenic failure 58Open Targets
0.07Suggestive
spermatogenic failure 7Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.07Suggestive
spermatogenic failure 40Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
THOC5Protein interaction100%ALYREFProtein interaction100%NUTF2Protein interaction100%NUP62Protein interaction100%NXT1Protein interaction100%NXT2Protein interaction100%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
100%
Brain
50%
Heart
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
NXF2BTHOC5ALYREFNUTF2NUP62NXT1NXT2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q9GZY0
View on AlphaFold β†—
RankingsWhere NXF2B stands among ~20K protein-coding genes
  • #15,078of 20,598
    Most Researched17
Genes detectedNXF2B
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Comprehensive analysis of TLX2 in pan cancer as a prognostic and immunologic biomarker and validation in ovarian cancer.
PMID: 37758722
Sci Rep Β· 2023
1.00
2
De novo duplication of Xq22.1β†’q24 with a disruption of the NXF gene cluster in a mentally retarded woman with short stature and premature ovarian failure.
PMID: 22030050
Taiwan J Obstet Gynecol Β· 2011
0.50