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FAM83A (Family With Sequence Similarity 83 Member A) is a Protein Coding gene. Diseases associated with FAM83A include Amelogenesis Imperfecta, Type Iiia and Trichorhinophalangeal Syndrome, Type Ii. An important paralog of this gene is FAM83C.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25416956 |
GO:0019901 | protein kinase binding | IPI | 22886303 |
GO:0036312 | phosphatidylinositol 3-kinase regulatory subunit binding | IDA | 22886303 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007165 | signal transduction | IBA | 21873635 |
GO:0007173 | epidermal growth factor receptor signaling pathway | IDA | 22886303 |
GO:0008283 | cell proliferation | IMP | 22886303 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FAM83A 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FAM83A 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FAM83A 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fam83a 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Fam83a 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FAM83A 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FAM83A 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FAM83A 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FAM83A 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fam83a 30 |
|
||
Str.11910 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68960 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC799983 30 |
|
||
FAM83A 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs7813708 | - | p.Ala237Thr |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3412283 | CNV | duplication | 20981092 |
esv3618663 | CNV | loss | 21293372 |
nsv1032827 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
amelogenesis imperfecta, type iiia |
|
|
trichorhinophalangeal syndrome, type ii |
|
|