KNSTRN (kinetochore localized astrin (SPAG5) binding protein)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 90417
Gene name Kinetochore localized astrin (SPAG5) binding protein
Gene symbol KNSTRN
Synonyms (NCBI Gene)
C15orf23HSD11ROCHISSKAPTRAF4AF1
Chromosome 15
Chromosome location 15q15.1
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs868438023 C>T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
105
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (105)
miRTarBase ID miRNA Experiments Reference
MIRT046798 hsa-miR-222-3p CLASH 23622248
MIRT712617 hsa-miR-497-3p HITS-CLIP 19536157
MIRT712616 hsa-miR-3926 HITS-CLIP 19536157
MIRT712615 hsa-miR-548s HITS-CLIP 19536157
MIRT712614 hsa-miR-4701-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000070 Process Mitotic sister chromatid segregation IBA
GO:0000070 Process Mitotic sister chromatid segregation IMP 21402792
GO:0000226 Process Microtubule cytoskeleton organization IMP 26242911
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000776 Component Kinetochore IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614718 30767 ENSG00000128944
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y448
Protein name Small kinetochore-associated protein (SKAP) (Kinetochore-localized astrin-binding protein) (Kinastrin) (Kinetochore-localized astrin/SPAG5-binding protein) (TRAF4-associated factor 1)
Protein function Essential component of the mitotic spindle required for faithful chromosome segregation and progression into anaphase (PubMed:19667759). Promotes the metaphase-to-anaphase transition and is required for chromosome alignment, normal timing of sis
Family and domains
Tissue specificity TISSUE SPECIFICITY: Widely expressed, including in skin. {ECO:0000269|PubMed:25194279}.
Sequence 
MAAPEAPPLDRVFRTTWLSTECDSHPLPPSYRKFLFETQAADLAGGTTVAAGNLLNESEK
DCGQDRRAPGVQPCRLVTMTSVVKTVYSLQPPSALSGGQPADTQTRATSKSLLPVRSKEV
DVSKQLHSGGPENDVTKITKLRRENGQMKATDTATRRNVRKGYKPLSKQKSEEELKDKNQ
LLEAVNKQLHQKLTETQGELKDLTQKVELLEKFRDNCLAILESKGLDPALGSETLASRQE
STTDHMDSMLLLETLQEELKLFNETAKKQMEELQALKVKLEMKEERVRFLEQQTLCNNQV
NDLTTALKEMEQLLEM
Sequence length 316
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Combined immunodeficiency with faciooculoskeletal anomalies Pathogenic rs779438003 RCV002246351
Show/Hide Text Mining Associations (5)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37608989, 38198023
Breast Neoplasms Stimulate 38198023
Esophageal Neoplasms Associate 35201967
Neoplasms Associate 35201967, 36845017
Urinary Bladder Neoplasms Associate 38198023