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MEAK7 (MTOR Associated Protein, Eak-7 Homolog) is a Protein Coding gene. Diseases associated with MEAK7 include Progressive Myoclonus Epilepsy 7 and Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome. An important paralog of this gene is OXR1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 16189514 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005730 | nucleolus | IDA | -- |
GO:0005737 | cytoplasm | IEA,IDA | 24223779 |
GO:0005764 | lysosome | IEA | -- |
GO:0005765 | lysosomal membrane | IDA | 29750193 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0030334 | regulation of cell migration | IDA | 29750193 |
GO:0031667 | response to nutrient levels | IDA | 29750193 |
GO:0031929 | TOR signaling | IMP | 29750193 |
GO:0032868 | response to insulin | IDA | 29750193 |
GO:0042127 | regulation of cell proliferation | IDA | 29750193 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TLDC1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TLDC1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TLDC1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tldc1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Tldc1 30 31 |
|
OneToOne | |
Meak7 17 |
|
||||
Platypus (Ornithorhynchus anatinus) |
Mammalia | TLDC1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TLDC1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | KIAA1609 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TLDC1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tldc1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tldc1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG5149 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | eak-7 31 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G06260 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os12g0157200 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
707958 | Benign: not provided | 84,479,983(-) | T/C | MISSENSE_VARIANT | |
726307 | Likely Benign: not provided | 84,497,971(-) | T/C | MISSENSE_VARIANT | |
729693 | Benign: not provided | 84,480,032(-) | G/A | INTRON_VARIANT | |
742235 | Likely Benign: not provided | 84,480,696(-) | G/GC | FRAMESHIFT_VARIANT | |
768801 | Benign: not provided | 84,486,890(-) | C/G | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv169n21 | CNV | loss | 19592680 |
dgv3057n100 | CNV | loss | 25217958 |
dgv5262n54 | CNV | loss | 21841781 |
dgv549e214 | CNV | gain | 21293372 |
esv2714828 | CNV | deletion | 23290073 |
esv2714830 | CNV | deletion | 23290073 |
esv2714831 | CNV | deletion | 23290073 |
esv3303917 | CNV | mobile element insertion | 20981092 |
esv3389512 | CNV | insertion | 20981092 |
esv3639429 | CNV | gain | 21293372 |
esv3892928 | CNV | loss | 25118596 |
esv3892929 | CNV | loss | 25118596 |
nsv1058049 | CNV | loss | 25217958 |
nsv1059640 | CNV | loss | 25217958 |
nsv1061004 | CNV | loss | 25217958 |
nsv1064308 | CNV | loss | 25217958 |
nsv1065249 | CNV | gain | 25217958 |
nsv457600 | CNV | loss | 19166990 |
nsv483044 | CNV | gain | 15286789 |
nsv573425 | CNV | loss | 21841781 |
nsv573430 | CNV | loss | 21841781 |
nsv573454 | CNV | loss | 21841781 |
nsv833311 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
progressive myoclonus epilepsy 7 |
|
|
deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome |
|
|
martsolf syndrome |
|
|