Entity Details

Primary name FAM20A
Entity type gene
Source Source Link

Details

PrimaryID54757
RefseqGeneNG_029809
SymbolFAM20A
NameFAM20A golgi associated secretory pathway pseudokinase
Chromosome17
Location17q24.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-07-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsFA20A_HUMAN

GO terms

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GOName
GO:0001934 positive regulation of protein phosphorylation
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0006468 protein phosphorylation
GO:0009617 response to bacterium
GO:0031214 biomineral tissue development
GO:0043539 protein serine/threonine kinase activator activity
GO:0044691 tooth eruption
GO:0055074 calcium ion homeostasis
GO:0070062 extracellular exosome
GO:0070166 enamel mineralization

Diseases

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Disease IDSourceNameDescription
204690 OMIMAmelogenesis imperfecta 1G (AI1G)A disorder characterized by dental anomalies, gingival overgrowth, and nephrocalcinosis. Dental anomalies include hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay of tooth eruption, hypodontia/oligodontia, pericoronal radiolucencies and unerupted teeth. The disease is caused by variants affecting the gene represented in this entry.

Interactions

5 interactions