SERPINE2 serpin family E member 2
Gene ID: 5270, updated on 14-Nov-2024Gene type: protein coding
Also known as: GDN; PI7; PN1; PNI; PI-7; PN-1; GDNPF
- See all available tests in GTR for this gene
- Go to complete Gene record for SERPINE2
- Go to Variation Viewer for SERPINE2 variants
Summary
This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. Thrombin, urokinase, plasmin and trypsin are among the proteases that this family member can inhibit. This gene is a susceptibility gene for chronic obstructive pulmonary disease and for emphysema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. GeneReviews: Not available | |
| Hundreds of variants clustered in genomic loci and biological pathways affect human height. GeneReviews: Not available |
Genomic context
- Location:
- 2q36.1
- Sequence:
- Chromosome: 2; NC_000002.12 (223975045..224039286, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SERPINE2 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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