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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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22868
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Gene name
Gene Name - the full gene name approved by the HGNC.
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FAST kinase domains 2 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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FASTKD2 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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COXPD44, KIAA0971 |
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Chromosome
Chromosome number
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2 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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2q33.3 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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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] |
| UniProt ID |
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
| Accession |
ID |
Position in sequence |
Description |
Type |
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PF06743
|
FAST_1 |
457 → 527 |
FAST kinase-like protein, subdomain 1 |
Family |
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PF08368
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FAST_2 |
538 → 619 |
FAST kinase-like protein, subdomain 2 |
Family |
|
PF08373
|
RAP |
636 → 692 |
RAP domain |
Domain |
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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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Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
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| Disease merge term |
Disease name |
dbSNP ID |
References |
| combined oxidative phosphorylation deficiency |
Combined oxidative phosphorylation deficiency 44 |
rs1574675683, rs758094541, rs118203917, rs1689552727, rs1064794140, rs755068980, rs1559359546, rs1574663066, rs778120270 |
N/A |
| leigh syndrome |
Leigh syndrome |
rs1574675683, rs1574663066, rs778120270 |
N/A |
|
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Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
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| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Mitochondrial Diseases |
mitochondrial disease |
N/A |
N/A |
GenCC |
|
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Associations from Text Mining
Disease associations identified through Pubtator
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| Disease Name |
Relationship Type |
References |
| Breast Neoplasms |
Associate
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21444724, 25409762 |
| Dementia |
Associate
|
25385369 |
| Memory Disorders |
Associate
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25385369 |
| Mitochondrial Encephalomyopathies |
Associate
|
26370583 |
| Neoplasms |
Associate
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34768773 |
| Neurodegenerative Diseases |
Associate
|
25385369 |
| Schizophrenia |
Associate
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30546022 |
| Spinocerebellar Degenerations |
Associate
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34234304 |
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