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MIGA2 (Mitoguardin 2) is a Protein Coding gene. Diseases associated with MIGA2 include Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked. An important paralog of this gene is MIGA1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 26711011 |
GO:0042803 | protein homodimerization activity | IDA | 26711011 |
GO:0046982 | protein heterodimerization activity | IDA | 26711011 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA | -- |
GO:0005741 | mitochondrial outer membrane | IEA | -- |
GO:0005887 | integral component of plasma membrane | IDA | 26711011 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008053 | mitochondrial fusion | IEA,IDA | 26711011 |
GO:0060348 | bone development | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FAM73B 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FAM73B 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FAM73B 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Fam73b 30 31 |
|
OneToOne | |
Miga2 17 |
|
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Rat (Rattus norvegicus) |
Mammalia | Fam73b 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | FAM73B 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | FAM73B 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FAM73B 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fam73b 30 |
|
||
Str.11456 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | fam73b 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011689 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG12125 30 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | K01D12.6 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs10988183 | Benign: not provided | 129,049,921(+) |
C/T NM_032809.3(MIGA2):c.825C>T (p.Asp275=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs17508321 | Benign: not provided | 129,049,897(+) |
C/T NM_032809.3(MIGA2):c.801C>T (p.Ser267=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs11544968 | - |
p.Val100Ala |
|||
rs17452596 | - |
p.Gly212Ser |
|||
rs6478859 | - |
p.Glu78Lys |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2665493 | CNV | deletion | 23128226 |
esv3621823 | CNV | loss | 21293372 |
nsv509323 | CNV | insertion | 20534489 |
nsv818725 | CNV | gain | 17921354 |
nsv831729 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
pigmentary disorder, reticulate, with systemic manifestations, x-linked |
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