PKDCC protein kinase domain containing, cytoplasmic
Gene ID: 91461, updated on 14-Nov-2024Gene type: protein coding
Also known as: Vlk; RLSDF; SGK493
- See all available tests in GTR for this gene
- Go to complete Gene record for PKDCC
- Go to Variation Viewer for PKDCC variants
Summary
Enables non-membrane spanning protein tyrosine kinase activity. Involved in peptidyl-tyrosine phosphorylation and skeletal system development. Located in extracellular region. [provided by Alliance of Genome Resources, Nov 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS). GeneReviews: Not available | |
| Genome-wide association analyses identify variants in developmental genes associated with hypospadias. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. GeneReviews: Not available | |
| Rhizomelic limb shortening with dysmorphic features | See labs |
Genomic context
- Location:
- 2p21
- Sequence:
- Chromosome: 2; NC_000002.12 (42048021..42058517)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PKDCC variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- 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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