Gene Gene information from NCBI Gene database.
Entrez ID 55055
Gene name Zwilch kinetochore protein
Gene symbol ZWILCH
Synonyms (NCBI Gene)
KNTC1APhZwilch
Chromosome 15
Chromosome location 15q22.31
miRNA miRNA information provided by mirtarbase database.
523
miRTarBase ID miRNA Experiments Reference
MIRT723744 hsa-miR-8083 HITS-CLIP 19536157
MIRT723743 hsa-miR-4719 HITS-CLIP 19536157
MIRT723742 hsa-miR-6814-5p HITS-CLIP 19536157
MIRT723741 hsa-miR-3927-5p HITS-CLIP 19536157
MIRT723739 hsa-miR-3124-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000776 Component Kinetochore IDA 12686595, 15824131
GO:0000776 Component Kinetochore IEA
GO:0005515 Function Protein binding IPI 12686595, 20462495
GO:0005694 Component Chromosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609984 25468 ENSG00000174442
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H900
Protein name Protein zwilch homolog (hZwilch)
Protein function Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores. Its function related to the spindle assembly machin
PDB 3IF8 , 7QPG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09817 Zwilch 31 573 RZZ complex, subunit zwilch Family
Sequence
Sequence length 591
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.).
10
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
AUTISM SPECTRUM DISORDER GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus Benign ClinVar
★★☆☆☆
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
Autism Spectrum Disorder Autism Pubtator 31332282 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 31698564 Associate
★☆☆☆☆
Found in Text Mining only
Congenital chromosomal disease Congenital Chromosomal Disease BEFREE 27424524
★☆☆☆☆
Found in Text Mining only
Testicular Germ Cell Tumor Testicular Germ Cell Tumor GWASCAT_DG 28604728
★★☆☆☆
Found in Text Mining + Unknown/Other Associations