PDPN podoplanin
Gene ID: 10630, updated on 2-Nov-2024Gene type: protein coding
Also known as: T1A; GP36; GP40; Gp38; OTS8; T1A2; TI1A; D2-40; T1A-2; AGGRUS; HT1A-1; PA2.26
- See all available tests in GTR for this gene
- Go to complete Gene record for PDPN
- Go to Variation Viewer for PDPN variants
Summary
This gene encodes a type-I integral membrane glycoprotein with diverse distribution in human tissues. The physiological function of this protein may be related to its mucin-type character. The homologous protein in other species has been described as a differentiation antigen and influenza-virus receptor. The specific function of this protein has not been determined but it has been proposed as a marker of lung injury. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Genomic context
- Location:
- 1p36.21
- Sequence:
- Chromosome: 1; NC_000001.11 (13583757..13617957)
- Total number of exons:
- 8
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for PDPN 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
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.