KNSTRN kinetochore localized astrin (SPAG5) binding protein
Gene ID: 90417, updated on 19-Sep-2024Gene type: protein coding
Also known as: SKAP; HSD11; ROCHIS; C15orf23; TRAF4AF1
- See all available tests in GTR for this gene
- Go to complete Gene record for KNSTRN
- Go to Variation Viewer for KNSTRN variants
Summary
Enables microtubule plus-end binding activity and protein homodimerization activity. Involved in several processes, including cellular response to epidermal growth factor stimulus; mitotic sister chromatid segregation; and regulation of attachment of spindle microtubules to kinetochore. Located in several cellular components, including kinetochore; microtubule cytoskeleton; and ruffle. Implicated in actinic keratosis and skin squamous cell carcinoma. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. GeneReviews: Not available | |
| Combined immunodeficiency with faciooculoskeletal anomalies | See labs |
Genomic context
- Location:
- 15q15.1
- Sequence:
- Chromosome: 15; NC_000015.10 (40382721..40394288)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for KNSTRN variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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