SPON1 spondin 1
Gene ID: 10418, updated on 2-Nov-2024Gene type: protein coding
Also known as: f-spondin; VSGP/F-spondin
- See all available tests in GTR for this gene
- Go to complete Gene record for SPON1
- Go to Variation Viewer for SPON1 variants
Summary
Predicted to enable LBD domain binding activity and metal ion binding activity. Predicted to be an extracellular matrix structural constituent. Predicted to be involved in cell adhesion. Predicted to act upstream of or within negative regulation of amyloid-beta formation; positive regulation of amyloid precursor protein catabolic process; and positive regulation of protein processing. Located in collagen-containing extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Nov 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network. GeneReviews: Not available | |
| Genome-wide association study of ancestry-specific TB risk in the South African Coloured population. GeneReviews: Not available | |
| Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. GeneReviews: Not available | |
| Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity. GeneReviews: Not available |
Genomic context
- Location:
- 11p15.2
- Sequence:
- Chromosome: 11; NC_000011.10 (13962723..14268133)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SPON1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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