AMN (amnion associated transmembrane protein)

2014-11-01  

Identity

HGNC
LOCATION
14q32.32
LOCUSID
ALIAS
IGS2,PRO1028,amnionless

Other Information

Locus ID:

NCBI: 81693
MIM: 605799
HGNC: 14604
Ensembl: ENSG00000166126

Variants:

dbSNP: 81693
ClinVar: 81693
TCGA: ENSG00000166126
COSMIC: AMN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166126ENST00000299155Q9BXJ7
ENSG00000166126ENST00000559525H0YMX8
ENSG00000166126ENST00000559789H0YKJ5

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Pathways

PathwaySourceExternal ID
DiseaseREACTOMER-HSA-1643685
Diseases of metabolismREACTOMER-HSA-5668914
Defects in vitamin and cofactor metabolismREACTOMER-HSA-3296482
Defects in cobalamin (B12) metabolismREACTOMER-HSA-3296469
Defective AMN causes hereditary megaloblastic anemia 1REACTOMER-HSA-3359462
Defective CUBN causes hereditary megaloblastic anemia 1REACTOMER-HSA-3359463
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Lipoprotein metabolismREACTOMER-HSA-174824
HDL-mediated lipid transportREACTOMER-HSA-194223
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Cobalamin (Cbl, vitamin B12) transport and metabolismREACTOMER-HSA-196741

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
145760522004The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless.69
125902602003Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.38
179797452007Multiligand endocytosis and congenital defects: roles of cubilin, megalin and amnionless.18
229291892012Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.17
305232782018Structural assembly of the megadalton-sized receptor for intestinal vitamin B12 uptake and kidney protein reabsorption.7
217500922011Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7.6
220780002011Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities.6
294029152018Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells.4
260403262015Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report.3
164038022006Variations of the Amnionless gene in recurrent spontaneous abortions.1

Citation

Dessen P

AMN (amnion associated transmembrane protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60277/amn