1 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionprotein bindingnegative regulation of long-term synaptic potentiationsynaptic cleftTesticular regression syndrome46,XY complete gonadal dysgenesis46,XX testicular disorder of sex developmentazoospermia
Based on limited published evidence, C22orf39 negatively regulates long-term potentiation and modulates adult synaptic plasticity. It stabilizes RTN4 isoform A/Nogo-A interactions with receptors, inhibiting postsynaptic AMPA receptor clustering. Upon neuronal stimulation, C22orf39 is degraded at synapses, reducing RTN4 signaling and permitting AMPA receptor clustering. C22orf39 expression is silenced during MYC-driven hepatocarcinogenesis in liver stem cells, suggesting potential tumor suppressor function 1.
1
C22orf39 expression is completely silenced in MYC-overexpressing liver cancer stem cells, suggesting its absence may be critical for tumorigenesis
PMID: 25717234⚠Limited data available — This gene has 1 indexed publication. Summary and analysis may be incomplete.
Testicular regression syndromeOpen Targets
46,XY complete gonadal dysgenesisOpen Targets
46,XX testicular disorder of sex developmentOpen Targets
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiencyOpen Targets
46,XX ovotesticular disorder of sex developmentOpen Targets
benign prostatic hyperplasiaOpen Targets
hypogonadotropic hypogonadism 11 with or without anosmiaOpen Targets
persistent Mullerian duct syndromeOpen Targets
Persistent Müllerian duct syndromeOpen Targets
cryptorchidismOpen Targets
spermatogenic failure 71Open Targets
familial male-limited precocious pubertyOpen Targets
Sertoli Cell-Only SyndromeOpen Targets
partial chromosome Y deletionOpen Targets
spermatogenic failure 57Open Targets
spermatogenic failure 50Open Targets
X-linked intellectual disability - macrocephaly - macroorchidismOpen Targets
X-linked intellectual disability-macrocephaly-macroorchidism syndromeOpen Targets
hypogonadotropic hypogonadism 14 with or without anosmiaOpen Targets
No pathogenic variants reported on ClinVar for this gene.
No tissue expression data available for this gene.