Gene Gene information from NCBI Gene database.
Entrez ID 79003
Gene name MIS12 kinetochore complex component
Gene symbol MIS12
Synonyms (NCBI Gene)
2510025F08RikKNTC2APMTW1hMis12
Chromosome 17
Chromosome location 17p13.2
miRNA miRNA information provided by mirtarbase database.
262
miRTarBase ID miRNA Experiments Reference
MIRT004855 hsa-miR-192-5p Luciferase reporter assayqRT-PCR 19074876
MIRT024957 hsa-miR-215-5p Microarray 19074876
MIRT004855 hsa-miR-192-5p Reporter assay;Microarray;Other 19074876
MIRT028251 hsa-miR-32-5p Sequencing 20371350
MIRT051265 hsa-miR-16-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0000070 Process Mitotic sister chromatid segregation IBA
GO:0000278 Process Mitotic cell cycle IEA
GO:0000444 Component MIS12/MIND type complex IBA
GO:0000444 Component MIS12/MIND type complex IDA 16585270, 20819937, 27881301
GO:0000444 Component MIS12/MIND type complex NAS 21633384
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609178 24967 ENSG00000167842
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H081
Protein name Protein MIS12 homolog
Protein function Part of the MIS12 complex which is required for normal chromosome alignment and segregation and for kinetochore formation during mitosis (PubMed:12515822, PubMed:15502821, PubMed:16585270). Essential for proper kinetochore microtubule attachment
PDB 5LSJ , 5LSK , 8PPR , 8Q5H
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05859 Mis12 8 140 Mis12 protein Family
Sequence
Sequence length 205
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
RHO GTPases Activate Formins
Mitotic Prometaphase
EML4 and NUDC in mitotic spindle formation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Colorectal Neoplasms Colorectal neoplasm Pubtator 31222108 Stimulate
★☆☆☆☆
Found in Text Mining only