NPNT nephronectin
Gene ID: 255743, updated on 18-Sep-2024Gene type: protein coding
Also known as: POEM; EGFL6L
- See all available tests in GTR for this gene
- Go to complete Gene record for NPNT
- Go to Variation Viewer for NPNT variants
Summary
Predicted to enable integrin binding activity. Predicted to be involved in several processes, including cell-cell adhesion mediated by integrin; positive regulation of ERK1 and ERK2 cascade; and positive regulation of osteoblast differentiation. Predicted to act upstream of or within positive regulation of transforming growth factor beta receptor signaling pathway. Located in extracellular exosome. Part of collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. GeneReviews: Not available | |
| Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. GeneReviews: Not available |
Genomic context
- Location:
- 4q24
- Sequence:
- Chromosome: 4; NC_000004.12 (105895471..105971671)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NPNT 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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