Entity Details

Primary name AMN
Entity type gene
Source Source Link

Details

PrimaryID81693
RefseqGeneNG_008276
SymbolAMN
Nameamnion associated transmembrane protein
Chromosome14
Location14q32.32
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-04-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsAMNLS_HUMAN

GO terms

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GOName
GO:0005102 signaling receptor binding
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0005905 clathrin-coated pit
GO:0006898 receptor-mediated endocytosis
GO:0007275 multicellular organism development
GO:0007588 excretion
GO:0008104 protein localization
GO:0009235 cobalamin metabolic process
GO:0010008 endosome membrane
GO:0015889 cobalamin transport
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0030139 endocytic vesicle
GO:0031526 brush border membrane
GO:0032991 protein-containing complex
GO:0034384 high-density lipoprotein particle clearance
GO:0043001 Golgi to plasma membrane protein transport
GO:0070062 extracellular exosome

Diseases

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Disease IDSourceNameDescription
618882 OMIMImerslund-Grasbeck syndrome 2 (IGS2)A form of Imerslund-Grasbeck syndrome, a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in infancy or early childhood. Clinical manifestations include failure to thrive, infections and neurological damage. Mild proteinuria, with no signs of kidney disease, is present in about half of the patients. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
AMNSTAMBPBioGRID, HPRD, IntAct16730941 details
AMNCUBNUniProt30523278 details