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This locus encodes a protein that is likely secreted and may function in hematopoiesis. A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]
FAM20A (FAM20A Golgi Associated Secretory Pathway Pseudokinase) is a Protein Coding gene. Diseases associated with FAM20A include Amelogenesis Imperfecta, Type Ig and Amelogenesis Imperfecta. An important paralog of this gene is FAM20C.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004674 | NOT protein serine/threonine kinase activity | IDA | 25789606 |
GO:0005515 | protein binding | IPI | 25789606 |
GO:0016773 | NOT phosphotransferase activity, alcohol group as acceptor | IBA | 21873635 |
GO:0043539 | protein serine/threonine kinase activator activity | IBA,IDA | 25789606 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005615 | extracellular space | IDA | 22582013 |
GO:0005623 | cell | ISS | -- |
GO:0005783 | endoplasmic reticulum | ISS | -- |
GO:0005794 | colocalizes_with Golgi apparatus | IBA,IDA | 22582013 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001934 | positive regulation of protein phosphorylation | IEA,ISS | -- |
GO:0006468 | NOT protein phosphorylation | IEA,IBA | 21873635 |
GO:0009617 | response to bacterium | IEA | -- |
GO:0016310 | NOT phosphorylation | IBA | 21873635 |
GO:0031214 | biomineral tissue development | IMP | 25789606 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||
SP2: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FAM20A 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FAM20A 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fam20a 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | FAM20A 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Fam20a 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FAM20A 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FAM20A 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FAM20A 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FAM20A 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fam20a 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | FAM20A (2 of 2) 31 |
|
OneToMany | |
fam20a 30 31 |
|
OneToMany | |||
Dr.22208 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG31145 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | H03A11.1 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
647384 | Uncertain Significance: Carney complex, type 1 | 68,530,382(-) | G/T | MISSENSE_VARIANT,INTRON_VARIANT | |
658107 | Uncertain Significance: Carney complex, type 1 | 68,530,365(-) | A/G | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
659549 | Uncertain Significance: Carney complex, type 1 | 68,530,334(-) | C/T | MISSENSE_VARIANT,INTRON_VARIANT | |
662737 | Uncertain Significance: Carney complex, type 1 | 68,530,384(-) | C/G | MISSENSE_VARIANT,INTRON_VARIANT | |
701670 | Likely Benign: Carney complex, type 1; Hereditary cancer-predisposing syndrome | 68,530,413(-) | C/T | SYNONYMOUS_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2661984 | CNV | deletion | 23128226 |
esv2677068 | CNV | deletion | 23128226 |
esv2716148 | CNV | deletion | 23290073 |
esv3554698 | CNV | deletion | 23714750 |
esv3641113 | CNV | loss | 21293372 |
esv3641114 | CNV | loss | 21293372 |
nsv1127594 | CNV | deletion | 24896259 |
nsv476931 | CNV | novel sequence insertion | 20440878 |
nsv477917 | CNV | novel sequence insertion | 20440878 |
nsv507856 | OTHER | sequence alteration | 20534489 |
nsv510723 | CNV | deletion | 20534489 |
nsv522126 | CNV | loss | 19592680 |
nsv833524 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
amelogenesis imperfecta, type ig |
|
|
amelogenesis imperfecta |
|
|
acrodysostosis 1 with or without hormone resistance |
|
|
carney complex, type 1 |
|
|
dental pulp calcification |
|
|