Entity Details

Primary name AMTN
Entity type gene
Source Source Link

Details

PrimaryID401138
RefseqGene
SymbolAMTN
Nameamelotin
Chromosome4
Location4q13.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2004-02-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsAMTN_HUMAN

GO terms

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GOName
GO:0005576 extracellular region
GO:0005604 basement membrane
GO:0005788 endoplasmic reticulum lumen
GO:0005911 cell-cell junction
GO:0007155 cell adhesion
GO:0031012 extracellular matrix
GO:0031214 biomineral tissue development
GO:0042475 odontogenesis of dentin-containing tooth
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0070169 positive regulation of biomineral tissue development
GO:0070175 positive regulation of enamel mineralization

Diseases

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Disease IDSourceNameDescription
617607 OMIMAmelogenesis imperfecta 3B (AI3B)An autosomal dominant form of amelogenesis imperfecta, a defect of enamel formation. AI3B is characterized by hypomineralized enamel that has reduced tickness and exhibits structural defects. The disease is caused by variants affecting the gene represented in this entry.

Interactions

12 interactions

InteractorPartnerSourcesPublicationsLink
AMTNFAM20CIntAct25789606 details
AMTNBAG6BioGRID, IntAct32296183 details
AMTNFAM20AIntAct25789606 details
AMTNLRRC40BioGRID, IntAct28514442 details
AMTNGINS4BioGRID, IntAct28514442 details
AMTNCDK5RAP3BioGRID, IntAct28514442 details
AMTNRABL6BioGRID, IntAct28514442 details
AMTNPPIDBioGRID, IntAct28514442 details
AMTNPTPN1BioGRID, IntAct28514442 details
AMTNCYB5R3BioGRID, IntAct28514442 details
AMTNSEC24DBioGRID, IntAct28514442 details
AMTNNARS1BioGRID, IntAct28514442 details