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GeneE
10 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.
NSMF
NMDA receptor synaptonuclear signaling and neuronal migration factor
Chromosome 9 Β· 9q34.3
NCBI Gene: 26012Ensembl: ENSG00000165802.24HGNC: HGNC:29843UniProt: A8K7L5
32PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of neuron migrationnucleusnucleoplasmcytoplasmKallmann syndromehypogonadotropic hypogonadismpituitary stalk interruption syndromehypogonadotropic hypogonadism 9 with or without anosmia
✦AI Summary

NSMF (NMDA receptor synaptonuclear signaling and neuronal migration factor) is a multifunctional protein with primary roles in neuronal development and genome maintenance. Mechanistically, NSMF mediates synaptic-to-nuclear signaling downstream of NMDA receptor activation, transporting from synapses to the nucleus to regulate activity-dependent gene expression 1. The protein couples glutamate receptor signaling to transcriptional changes affecting dendritic morphogenesis and spine plasticity. During early postnatal development, NSMF facilitates BDNF-induced nuclear import critical for hippocampal development 1. Additionally, NSMF functions as a replication stress response factor that localizes to stalled replication forks and scaffolds the RPA-CDC5L-ATR complex to activate ATR signaling for DNA damage response 2. NSMF also modulates replication fork progression under stress, balancing genomic instability in cancer cells 3. Disease relevance includes hypogonadotropic hypogonadism 9, where NSMF mutations impair hypothalamic and ovarian gene expression affecting fertility 4. In colorectal cancer, elevated NSMF expression enables cancer cell survival under replication stress, making it a potential therapeutic target 3. Thus, NSMF integrates neuronal signaling and genome maintenance functions essential for both neurodevelopment and cancer progression.

Sources cited
1
NSMF mediates synaptic-to-nuclear protein transport and regulates neuronal activity-dependent gene expression; NSMF knockout causes hippocampal dysplasia and impaired BDNF signaling
PMID: 27803842
2
NSMF knockout mice demonstrate altered hypothalamic and ovarian gene expression with reduced oocyte numbers, establishing an anatomic basis for subfertility in hypogonadotropic hypogonadism
PMID: 37516276
3
NSMF localizes to stalled replication forks, scaffolds RPA-CDC5L-ATR complex formation, and promotes ATR signaling for replication stress response and genome maintenance
PMID: 33963872
4
NSMF expression is elevated in colorectal cancer and modulates replication stress to facilitate tumor progression; NSMF knockout suppresses tumor growth by inducing replication-dependent DNA damage
PMID: 41533586
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
Kallmann syndromeOpen Targets
0.56Moderate
hypogonadotropic hypogonadismOpen Targets
0.38Weak
pituitary stalk interruption syndromeOpen Targets
0.34Weak
hypogonadotropic hypogonadism 9 with or without anosmiaOpen Targets
0.27Weak
male infertility with azoospermia or oligozoospermia due to single gene mutationOpen Targets
0.27Weak
urinary system diseaseOpen Targets
0.23Weak
gastric cancerOpen Targets
0.08Suggestive
46,XX gonadal dysgenesisOpen Targets
0.07Suggestive
Female infertility due to fertilization defectOpen Targets
0.07Suggestive
primary ovarian insufficiencyOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
Testicular regression syndromeOpen Targets
0.06Suggestive
female infertility due to oocyte meiotic arrestOpen Targets
0.06Suggestive
oocyte maturation defect 14Open Targets
0.06Suggestive
oocyte maturation defect 5Open Targets
0.06Suggestive
46,XY complete gonadal dysgenesisOpen Targets
0.06Suggestive
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiencyOpen Targets
0.06Suggestive
breast cancerOpen Targets
0.05Suggestive
premature ovarian failure 19Open Targets
0.05Suggestive
partial androgen insensitivity syndromeOpen Targets
0.05Suggestive
Hypogonadotropic hypogonadism 9 with or without anosmiaUniProt
Pathogenic Variants2
NM_001130969.3(NSMF):c.710+1G>ALikely pathogenic
Male infertility with azoospermia or oligozoospermia due to single gene mutation
β˜…β˜†β˜†β˜†2023
NM_001130969.3(NSMF):c.53C>A (p.Ser18Ter)Pathogenic
Pituitary stalk interruption syndrome
β˜…β˜†β˜†β˜†2020β†’ Residue 18
View on ClinVar β†—
Related Genes
PROK2Protein interaction100%KISS1RProtein interaction98%CHD7Protein interaction86%GNRHRProtein interaction82%FGFR1Protein interaction82%GNRH1Protein interaction74%
Tissue Expression6 tissues
Brain
100%
Liver
66%
Ovary
53%
Bone Marrow
46%
Lung
37%
Heart
15%
Gene Interaction Network
Click a node to explore
NSMFPROK2KISS1RCHD7GNRHRFGFR1GNRH1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6X4W1
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.66LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.49 [0.36–0.66]
RankingsWhere NSMF stands among ~20K protein-coding genes
  • #11,562of 20,598
    Most Researched32
  • #4,506of 5,498
    Most Pathogenic Variants2
  • #4,814of 17,882
    Most Constrained (LOEUF)0.66
Genes detectedNSMF
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
What do we learn from the murine
PMID: 27803842
Rare Dis Β· 2016
1.00
2
Structure of activated transcription complex Pol II-DSIF-PAF-SPT6.
PMID: 30135578
Nature Β· 2018
0.90
3
PMID: 20301509
0.80
4
Investigation of subfertility in the female Nsmf knockout mouse.
PMID: 37516276
F S Sci Β· 2023
0.70
5
NSMF modulates replication stress to facilitate colorectal cancer progression.
PMID: 41533586
Nucleic Acids Res Β· 2026
0.60