ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
Gene ID: 203286, updated on 5-Mar-2024Gene type: protein coding
Also known as: PKDR1; SAMD6; NPHP16; ANKRD14
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- Go to complete Gene record for ANKS6
- Go to Variation Viewer for ANKS6 variants
Summary
This gene encodes a protein containing multiple ankyrin repeats and a SAM domain. It is thought that this protein may localize to the proximal region of the primary cilium, and may play a role in renal and cardiovascular development. Mutations in this gene have been shown to cause a form of nephronophthisis (NPHP16), a chronic tubulo-interstitial nephritis. [provided by RefSeq, Jul 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Nephronophthisis 16 | See labs |
Genomic context
- Location:
- 9q22.33
- Sequence:
- Chromosome: 9; NC_000009.12 (98732009..98796555, complement)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ANKS6 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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