AMN (amnion associated transmembrane protein)

2014-11-01  

Identity

HGNC
AMN
LOCATION
14q32.32
LOCUSID
81693
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
seminal vesicle
prostate
vagina
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
320457042020Imerslund-Gräsbeck Syndrome presenting with microangiopathic hemolytic anemia in a child.2
320457042020Imerslund-Gräsbeck Syndrome presenting with microangiopathic hemolytic anemia in a child.2
294029152018Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells.17
305232782018Structural assembly of the megadalton-sized receptor for intestinal vitamin B(12) uptake and kidney protein reabsorption.20
294029152018Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells.17
305232782018Structural assembly of the megadalton-sized receptor for intestinal vitamin B(12) uptake and kidney protein reabsorption.20
260403262015Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report.7
260403262015Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report.7
229291892012Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.21
229291892012Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.21
217500922011Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7.10
220780002011Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities.8
217500922011Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7.10
220780002011Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities.8
179797452007Multiligand endocytosis and congenital defects: roles of cubilin, megalin and amnionless.20

Citation

Dessen P

AMN (amnion associated transmembrane protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60277/tumors-explorer/tumors-explorer/