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9 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
IQCN
IQ motif containing N
Chromosome 19 Β· 19p13.11
NCBI Gene: 80726Ensembl: ENSG00000130518.19HGNC: HGNC:29350UniProt: A0JP07
33PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingspermatid developmentnucleusmitochondrionspermatogenic failure 78Abnormality of the skeletal systemhypothyroidismTietze syndrome
✦AI Summary

IQCN (IQ motif containing N) is essential for male fertility and successful fertilization 1. The protein functions as a calmodulin-binding regulator that controls microtubule nucleation during manchette assembly in elongating spermatids 12. IQCN interacts with calmodulin to regulate phosphorylation of downstream calmodulin-binding proteins involved in male gamete generation and cytoskeletal organization 2. Loss-of-function mutations in IQCN cause autosomal-recessive male infertility characterized by total fertilization failure (TFF) 3. Affected individuals exhibit abnormal sperm morphology, including defective acrosome structures and impaired flagellar assembly with irregular '9 + 2' microtubule organization, resulting in reduced sperm motility and fertilization capacity 14. Even intracytoplasmic sperm injection (ICSI) fails without assisted oocyte activation 5. IQCN mutations are associated with Spermatogenic failure 78 6. Intriguingly, ICSI combined with assisted oocyte activation can overcome IQCN-associated TFF, offering a therapeutic option for affected couples 1. The identification of IQCN variants provides important genetic markers for diagnosing unexplained male infertility and guides personalized clinical interventions.

Sources cited
1
IQCN is essential for fertilization and spermiogenesis; regulates microtubule nucleation during manchette assembly via calmodulin; IQCN disruption causes abnormal acrosome structures and total fertilization failure; ICSI with assisted oocyte activation can overcome IQCN-associated TFF
PMID: 36321563
2
Homozygous frameshift variants in IQCN cause male infertility due to total fertilization failure; IQCN localizes to acrosomal region and equatorial segment; IQCN-KO mice show abnormal sperm morphology and fertility defects
PMID: 37184908
3
IQCN interacts with calmodulin to regulate phosphorylation of calmodulin-binding proteins; IQCN deficiency affects male gamete generation, actin cytoskeleton organization, and microtubule cytoskeleton organization; FGFR4 and SYK kinases are important downstream effectors affecting sperm motility
PMID: 40770611
4
Biallelic IQCN variants cause sperm flagellar assembly defects with abnormal '9 + 2' microtubule structure; IQCN-KO mice show reduced sperm motility parameters and impaired hyperactivation and IVF ability; IQCN-binding proteins include CDC42 and intraflagellar transport proteins
PMID: 37140151
5
Novel homozygous IQCN mutation identified in consanguineous family causing male infertility and fertilization failure; affected proband failed fertilization even with ICSI or ICSI-assisted oocyte activation
PMID: 40437858
6
IQCN mutations are associated with Spermatogenic failure 78; ICSI with assisted oocyte activation recommended as treatment for IQCN-associated fertilization failure
PMID: 37758324
Disease Associationsβ“˜21
spermatogenic failure 78Open Targets
0.46Moderate
Abnormality of the skeletal systemOpen Targets
0.28Weak
hypothyroidismOpen Targets
0.26Weak
Tietze syndromeOpen Targets
0.24Weak
thyroid diseaseOpen Targets
0.21Weak
autoimmune diseaseOpen Targets
0.19Weak
myxedemaOpen Targets
0.18Weak
metabolic syndromeOpen Targets
0.18Weak
Crohn's diseaseOpen Targets
0.16Weak
smoking behaviorOpen Targets
0.15Weak
autoimmune thyroid diseaseOpen Targets
0.13Weak
Hashimoto's thyroiditisOpen Targets
0.11Weak
azoospermiaOpen Targets
0.10Weak
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure 20Open Targets
0.07Suggestive
spermatogenic failure 72Open Targets
0.07Suggestive
spermatogenic failure 18Open Targets
0.07Suggestive
spermatogenic failure 27Open Targets
0.07Suggestive
spermatogenic failure 46Open Targets
0.07Suggestive
spermatogenic failure 82Open Targets
0.07Suggestive
Spermatogenic failure 78UniProt
Pathogenic Variants2
NM_001145304.2(IQCN):c.910C>T (p.Gln304Ter)Likely pathogenic
Spermatogenic failure 78
β˜…β˜†β˜†β˜†2024β†’ Residue 304
NM_001145304.2(IQCN):c.1061_1062del (p.Tyr354fs)Pathogenic
Spermatogenic failure 78
β˜†β˜†β˜†β˜†2025β†’ Residue 354
View on ClinVar β†—
Related Genes
FNDC3AShared pathway100%OSBP2Shared pathway100%SPANXB1Shared pathway100%SPACDRShared pathway100%DPY19L2Shared pathway100%CCDC42Shared pathway100%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
70%
Lung
26%
Liver
20%
Brain
16%
Heart
8%
Gene Interaction Network
Click a node to explore
IQCNFNDC3AOSBP2SPANXB1SPACDRDPY19L2CCDC42
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9H0B3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.89LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.69 [0.55–0.89]
RankingsWhere IQCN stands among ~20K protein-coding genes
  • #11,357of 20,598
    Most Researched33
  • #4,500of 5,498
    Most Pathogenic Variants2
  • #7,916of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedIQCN
Sources retrieved9 papers
Response timeβ€”
πŸ“„ Sources
9β–Ό
1
Genetic mechanisms of fertilization failure and early embryonic arrest: a comprehensive review.
PMID: 37758324
Hum Reprod Update Β· 2024
1.00
2
IQCN disruption causes fertilization failure and male infertility due to manchette assembly defect.
PMID: 36321563
EMBO Mol Med Β· 2022
0.89
3
Novel homozygous mutation in IQCN gene causes male infertility and fertilization failure in a consanguineous mating family.
PMID: 40437858
Int J Gynaecol Obstet Β· 2025
0.78
4
Quantitative Phosphoproteomic Analysis of Testes from
PMID: 40770611
J Proteome Res Β· 2025
0.67
5
Loss-of-function mutations in IQCN cause male infertility in humans and mice owing to total fertilization failure.
PMID: 37184908
Mol Hum Reprod Β· 2023
0.56