ANKRD26 ankyrin repeat domain containing 26
Gene ID: 22852, updated on 3-Apr-2024Gene type: protein coding
Also known as: THC2; bA145E8.1
- See all available tests in GTR for this gene
- Go to complete Gene record for ANKRD26
- Go to Variation Viewer for ANKRD26 variants
Summary
This gene encodes a protein containing N-terminal ankyrin repeats which function in protein-protein interactions. Mutations in this gene are associated with autosomal dominant thrombocytopenia-2. Pseudogenes of this gene are found on chromosome 7, 10, 13 and 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Thrombocytopenia 2 | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2023-10-10) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2023-10-10) ClinGen Genome Curation Page |
Genomic context
- Location:
- 10p12.1
- Sequence:
- Chromosome: 10; NC_000010.11 (26947582..27100494, complement)
- Total number of exons:
- 45
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ANKRD26 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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