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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.
NIN
ninein
Chromosome 14 Β· 14q22.1
NCBI Gene: 51199Ensembl: ENSG00000100503.27HGNC: HGNC:14906UniProt: C9J066
87PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitotic spindlecentriolar subdistal appendageintracellular protein localizationcentriole-centriole cohesionSeckel syndrome 7Seckel syndromeMicrocephalic primordial dwarfism, Dauber typeAbnormality of refraction
✦AI Summary

NIN (ninein) is a centrosomal protein essential for microtubule organization in epithelial cells. Its primary function is positioning and anchoring the microtubule minus-end at the centrosome 12. NIN recruits the gamma-tubulin ring complex to facilitate centrosome-templated microtubule nucleation and serves as a centrosome maturation factor 31. At the molecular level, NIN localizes to centriolar subdistal appendages and the pericentriolar material, where it mediates centriole organization and microtubule anchoring at the mother centriole 2. Functionally, NIN overexpression suppresses microtubule release without perturbing nucleation or elongation 1, indicating a specific role in stabilizing anchored microtubules. Clinically, NIN mutations are associated with Seckel syndrome 7, a rare autosomal recessive dwarfism disorder. The centrosomal defects caused by NIN dysfunction likely impair cell division and neurogenesis, explaining the growth retardation and microcephaly characteristic of this condition. Understanding NIN's role in centrosome biology provides insights into developmental disorders and potential targets for conditions involving centrosomal dysfunction.

Sources cited
1
NIN positions and anchors microtubule minus-ends, recruits gamma-tubulin ring complex, and overexpression suppresses microtubule release
PMID: 15190203
2
NIN is required for centriole organization and microtubule anchoring at the mother centriole
PMID: 23386061
3
NIN acts as a centrosome maturation factor
PMID: 11956314
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
Seckel syndrome 7Open Targets
0.67Moderate
Seckel syndromeOpen Targets
0.37Weak
Microcephalic primordial dwarfism, Dauber typeOpen Targets
0.37Weak
Abnormality of refractionOpen Targets
0.28Weak
Joubert syndrome 3Open Targets
0.27Weak
hearing lossOpen Targets
0.27Weak
neurodegenerative diseaseOpen Targets
0.25Weak
gastric adenocarcinomaOpen Targets
0.22Weak
colorectal adenocarcinomaOpen Targets
0.21Weak
androgenetic alopeciaOpen Targets
0.20Weak
hepatocellular carcinomaOpen Targets
0.19Weak
acute myeloid leukemiaOpen Targets
0.19Weak
non-small cell lung carcinomaOpen Targets
0.19Weak
astrocytomaOpen Targets
0.19Weak
esophageal adenocarcinomaOpen Targets
0.18Weak
esophageal carcinomaOpen Targets
0.18Weak
gastric intestinal type adenocarcinomaOpen Targets
0.18Weak
head and neck squamous cell carcinomaOpen Targets
0.18Weak
lung carcinomaOpen Targets
0.18Weak
soft tissue sarcomaOpen Targets
0.18Weak
Seckel syndrome 7UniProt
Pathogenic Variants6
NM_020921.4(NIN):c.6115C>T (p.Arg2039Ter)Likely pathogenic
Seckel syndrome 7|Joubert syndrome 3
β˜…β˜…β˜†β˜†2025β†’ Residue 2039
NM_020921.4(NIN):c.5104dup (p.Ile1702fs)Pathogenic
Seckel syndrome 7
β˜…β˜†β˜†β˜†2025β†’ Residue 1702
NM_020921.4(NIN):c.4100_4103del (p.Asn1367fs)Pathogenic
Seckel syndrome 7
β˜…β˜†β˜†β˜†2025β†’ Residue 1367
NM_020921.4(NIN):c.1966C>T (p.Gln656Ter)Likely pathogenic
Seckel syndrome 7
β˜…β˜†β˜†β˜†2023β†’ Residue 656
NM_020921.4(NIN):c.6079-1686G>ALikely pathogenic
Seckel syndrome 7
β˜…β˜†β˜†β˜†2020
NM_020921.4(NIN):c.2482del (p.Arg828fs)Pathogenic
Seckel syndrome 7
β˜…β˜†β˜†β˜†2015β†’ Residue 828
View on ClinVar β†—
Related Genes
SASS6Protein interaction100%SCLT1Protein interaction100%FBF1Protein interaction99%CNTRLProtein interaction98%CEP89Protein interaction98%CEP192Protein interaction94%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
72%
Brain
67%
Lung
64%
Ovary
39%
Liver
14%
Gene Interaction Network
Click a node to explore
NINSASS6SCLT1FBF1CNTRLCEP89CEP192
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q5XUU0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.62LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.53 [0.46–0.62]
RankingsWhere NIN stands among ~20K protein-coding genes
  • #5,497of 20,598
    Most Researched87
  • #3,352of 5,498
    Most Pathogenic Variants6
  • #4,344of 17,882
    Most Constrained (LOEUF)0.62 Β· top quartile
Genes detectedNIN
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Nervus Intermedius Neuralgia.
PMID: 39847207
Curr Pain Headache Rep Β· 2025
1.00
2
Comparative effectiveness of extracorporeal shock wave, ultrasound, low-level laser therapy, noninvasive interactive neurostimulation, and pulsed radiofrequency treatment for treating plantar fasciitis: A systematic review and network meta-analysis.
PMID: 30412072
Medicine (Baltimore) Β· 2018
0.90
3
The diopter.
PMID: 33531695
Eye (Lond) Β· 2021
0.80
4
Neuroglia in suicide.
PMID: 40148056
Handb Clin Neurol Β· 2025
0.70
5
Talquetamab-Induced Grover's Disease.
PMID: 37556510
J Drugs Dermatol Β· 2023
0.60