Free for academic non-profit institutions. Other users need a Commercial license
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]
FASTKD2 (FAST Kinase Domains 2) is a Protein Coding gene. Diseases associated with FASTKD2 include Combined Oxidative Phosphorylation Deficiency 44 and Fastkd2-Related Infantile Mitochondrial Encephalomyopathy. Gene Ontology (GO) annotations related to this gene include protein kinase activity. An important paralog of this gene is FASTKD1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | IEA,HDA | 22658674 |
GO:0004672 | protein kinase activity | IEA | -- |
GO:0019843 | rRNA binding | IEA,IDA | 25683715 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005739 | mitochondrion | IEA,IDA | 20869947 |
GO:0035770 | ribonucleoprotein granule | IDA | 25683715 |
GO:0042645 | mitochondrial nucleoid | IEA,IDA | 25683715 |
GO:0045171 | intercellular bridge | IDA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006468 | protein phosphorylation | IEA | -- |
GO:0042254 | ribosome biogenesis | IEA | -- |
GO:0070131 | positive regulation of mitochondrial translation | IMP | 27667664 |
GO:1902775 | mitochondrial large ribosomal subunit assembly | IMP | 25683715 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13a | · | 13b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP9: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FASTKD2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FASTKD2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FASTKD2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Fastkd2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fastkd2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | FASTKD2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FASTKD2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FASTKD2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FASTKD2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fastkd2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | fastkd2 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
669738 | Benign: not provided | 206,787,058(+) | G/A | INTRON_VARIANT | |
671648 | Benign: not provided | 206,770,870(+) | G/T | INTRON_VARIANT | |
671649 | Benign: not provided | 206,771,057(+) | G/A | INTRON_VARIANT | |
671650 | Likely Benign: not provided | 206,771,826(+) | A/G | INTRON_VARIANT | |
671651 | Benign: not provided | 206,774,170(+) | A/C | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1011347 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
combined oxidative phosphorylation deficiency 44 |
|
|
fastkd2-related infantile mitochondrial encephalomyopathy |
|
|
mitochondrial complex iv deficiency |
|
|
leigh syndrome |
|
|
mitochondrial encephalomyopathy |
|
|