PKD2 polycystin 2, transient receptor potential cation channel
Gene ID: 5311, updated on 11-Apr-2024Gene type: protein coding
Also known as: PC2; PKD4; Pc-2; APKD2; TRPP2
- See all available tests in GTR for this gene
- Go to complete Gene record for PKD2
- Go to Variation Viewer for PKD2 variants
Summary
This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption. GeneReviews: Not available | |
| GWAS of dental caries patterns in the permanent dentition. GeneReviews: Not available | |
| Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. GeneReviews: Not available | |
| Polycystic kidney disease 2 | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2012-07-06) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2012-07-06) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 4q22.1
- Sequence:
- Chromosome: 4; NC_000004.12 (88007635..88077777)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PKD2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ADPKD Mutation Database
- 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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