FASTKD2 FAST kinase domains 2
Gene ID: 22868, updated on 28-Oct-2024Gene type: protein coding
Also known as: COXPD44; KIAA0971
- See all available tests in GTR for this gene
- Go to complete Gene record for FASTKD2
- Go to Variation Viewer for FASTKD2 variants
Summary
This gene encodes a protein that is localized in the mitochondrial inner compartment and that may play a role in mitochondrial apoptosis. Nonsense mutations have been reported to result in cytochrome c oxidase deficiency. [provided by RefSeq, Oct 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Combined oxidative phosphorylation deficiency 44 | See labs |
| Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval. GeneReviews: Not available | |
| FASTKD2 is associated with memory and hippocampal structure in older adults. GeneReviews: Not available | |
| Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. GeneReviews: Not available |
Genomic context
- Location:
- 2q33.3
- Sequence:
- Chromosome: 2; NC_000002.12 (206765606..206796189)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FASTKD2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- FASTKD2 database
- 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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