FASTKD2 (FAST kinase domains 2)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 22868 |
| Gene name | FAST kinase domains 2 |
| Gene symbol | FASTKD2 |
| Synonyms (NCBI Gene) |
COXPD44KIAA0971
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| Chromosome | 2 |
| Chromosome location | 2q33.3 |
| 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] |
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SNPs
SNP information provided by dbSNP.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9NYY8 | ||||||||||||||||||||
| Protein name | FAST kinase domain-containing protein 2, mitochondrial | ||||||||||||||||||||
| Protein function | Plays an important role in assembly of the mitochondrial large ribosomal subunit (PubMed:25683715). As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA | ||||||||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expression detected in spleen, thymus, testis, ovary, colon, heart, smooth muscle, kidney, brain, lung, liver and white adipose tissue with highest expression in heart, smooth muscle and thyroid. {ECO:0000269|PubMed:20869947}. | ||||||||||||||||||||
| Sequence |
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| Sequence length | 710 | ||||||||||||||||||||
| Interactions | View interactions | ||||||||||||||||||||
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Associated diseases
Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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