HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MIS12
MIS12 kinetochore complex component
Chromosome 17 · 17p13.2
NCBI Gene: 79003Ensembl: ENSG00000167842.17HGNC: HGNC:24967UniProt: A8K1M4
57PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
MIS12/MIND type complexouter kinetochorekinetochore assemblyprotein bindingneurodegenerative diseasesmoking initiationdigestive system neoplasmeye disease
✦AI Summary

MIS12 is a core kinetochore component essential for chromosome 17 during mitosis. As part of the MIS12 complex (MIS12C), a key subunit of the KMN network (KNL1-MIS12-NDC80), it functions as a structural bridge connecting the chr17-proximal kinetochore domain to outer microtubule-binding sites 1. MIS12 is required for proper kinetochore-microtubule attachments and chromosome 17 2. MIS12C depletion causes mitotic arrest with misaligned chr17, reduced centromere stretch, and diminished microtubule bundles 3. The complex coordinates with CENP-C and Aurora B kinase through a regulatory loop that facilitates error correction of kinetochore-microtubule attachments, ensuring accurate biorientation 4. MIS12 complex assembly and turnover are tightly regulated by Hsp90-Sgt1 chaperones; imbalanced assembly impairs formation of functional microtubule-binding sites 5. Beyond mitotic roles, MIS12 mRNA stability is regulated by m6A methylation through METTL3, with MIS12 depletion linked to premature cellular senescence 6. Structurally, MIS12C integrates with NDC80C and KNL1C within the KMN assembly through stabilizing interactions 7, making it indispensable for faithful chromosome 17 across eukaryotes.

Sources cited
1
α-tubulin detyrosination regulates kinetochore-microtubule attachments through interaction with KMN network components including MIS12
PMID: 39521805
2
Hsp90-Sgt1 chaperones target and regulate Mis12 complex assembly for kinetochore-microtubule binding site formation
PMID: 20404110
3
MIS12 complex structure and its direct interaction with CENP-C bridging the KMN assembly
PMID: 27881301
4
Structural organization of KMN complex revealing MIS12C interaction interfaces with NDC80C and KNL1C
PMID: 38459128
5
Mis12 complex is essential for kinetochore assembly, chromosome segregation, and proper microtubule attachments
PMID: 16585270
6
CENP-C-Mis12 complex interaction establishes regulatory loop with Aurora B for kinetochore-microtubule error correction
PMID: 39433344
7
MIS12 mRNA stability regulated by METTL3 m6A methylation; MIS12 depletion accelerates cellular senescence
PMID: 33035345
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.39Weak
smoking initiationOpen Targets
0.10Suggestive
digestive system neoplasmOpen Targets
0.03Suggestive
eye diseaseOpen Targets
0.03Suggestive
connective tissue diseaseOpen Targets
0.03Suggestive
placental retentionOpen Targets
0.03Suggestive
male infertilityOpen Targets
0.03Suggestive
Chorioretinal scarOpen Targets
0.02Suggestive
biliary tract diseaseOpen Targets
0.02Suggestive
tricuspid valve diseaseOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
muscle atrophyOpen Targets
0.01Suggestive
ataxia telangiectasiaOpen Targets
0.01Suggestive
cervical squamous intraepithelial neoplasiaOpen Targets
0.01Suggestive
pachyonychia congenitaOpen Targets
0.00Suggestive
atherosclerosisOpen Targets
0.00Suggestive
Mobius syndromeOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
breast neoplasmOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SPC24Protein interaction100%BUB1Protein interaction100%BUB1BProtein interaction99%ZWINTProtein interaction99%SPC25Protein interaction99%CENPHProtein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
78%
Liver
66%
Heart
52%
Ovary
50%
Lung
50%
Gene Interaction Network
Click a node to explore
MIS12SPC24BUB1BUB1BZWINTSPC25CENPH
PROTEIN STRUCTURE
Preparing viewer…
PDB8PPR · 3.00 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.18LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.74 [0.48–1.18]
RankingsWhere MIS12 stands among ~20K protein-coding genes
  • #7,983of 20,598
    Most Researched57
  • #12,374of 17,882
    Most Constrained (LOEUF)1.18
Genes detectedMIS12
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
α-tubulin detyrosination fine-tunes kinetochore-microtubule attachments.
PMID: 39521805
Nat Commun · 2024
1.00
2
Hsp90-Sgt1 and Skp1 target human Mis12 complexes to ensure efficient formation of kinetochore-microtubule binding sites.
PMID: 20404110
J Cell Biol · 2010
0.90
3
Structure of the MIS12 Complex and Molecular Basis of Its Interaction with CENP-C at Human Kinetochores.
PMID: 27881301
Cell · 2016
0.80
4
Structure of the human KMN complex and implications for regulation of its assembly.
PMID: 38459128
Nat Struct Mol Biol · 2024
0.70
5
The ABCs of CENPs.
PMID: 21751032
Chromosoma · 2011
0.60