PDGFD platelet derived growth factor D
Gene ID: 80310, updated on 11-Apr-2024Gene type: protein coding
Also known as: IEGF; SCDGFB; MSTP036; SCDGF-B
- See all available tests in GTR for this gene
- Go to complete Gene record for PDGFD
- Go to Variation Viewer for PDGFD variants
Summary
The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines, seven of which are found in this factor. This gene product only forms homodimers and, therefore, does not dimerize with the other three family members. It differs from alpha and beta members of this family in having an unusual N-terminal domain, the CUB domain. Two splice variants have been identified for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. GeneReviews: Not available | |
| Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. GeneReviews: Not available | |
| Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. GeneReviews: Not available | |
| Genome-wide association study of selenium concentrations. GeneReviews: Not available |
Genomic context
- Location:
- 11q22.3
- Sequence:
- Chromosome: 11; NC_000011.10 (103907189..104164147, complement)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PDGFD 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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