ENSG00000166126


Homo sapiens

Features
Gene ID: ENSG00000166126
  
Biological name :AMN
  
Synonyms : AMN / amnion associated transmembrane protein / Q9BXJ7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: 1
Band: q32.32
Gene start: 102922656
Gene end: 102933596
  
Corresponding Affymetrix probe sets: 1563792_at (Human Genome U133 Plus 2.0 Array)   220989_s_at (Human Genome U133 Plus 2.0 Array)   223587_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000299155
Ensembl peptide - ENSP00000452831
Ensembl peptide - ENSP00000453786
NCBI entrez gene - 81693     See in Manteia.
OMIM - 605799
RefSeq - XM_011537203
RefSeq - NM_030943
RefSeq - XM_011537202
RefSeq Peptide - NP_112205
swissprot - Q9BXJ7
swissprot - H0YMX8
swissprot - H0YKJ5
Ensembl - ENSG00000166126
  
Related genetic diseases (OMIM): 261100 - Megaloblastic anemia-1, Norwegian type, 261100
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 amnENSDARG00000062947Danio rerio
 AMNENSGALG00000011391Gallus gallus
 AmnENSMUSG00000021278Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR026112  Amnionless


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006898 receptor-mediated endocytosis IMP
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007588 excretion IEA
 biological_processGO:0008104 protein localization IEA
 biological_processGO:0009235 cobalamin metabolic process TAS
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0015889 cobalamin transport IDA
 biological_processGO:0034384 high-density lipoprotein particle clearance TAS
 biological_processGO:0043001 Golgi to plasma membrane protein transport IDA
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005905 clathrin-coated pit IEA
 cellular_componentGO:0010008 endosome membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0030139 endocytic vesicle IEA
 cellular_componentGO:0031526 brush border membrane IEA
 cellular_componentGO:0045177 apical part of cell IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005102 signaling receptor binding IPI


Pathways (from Reactome)
Pathway description
Cobalamin (Cbl, vitamin B12) transport and metabolism
Defective AMN causes hereditary megaloblastic anemia 1
Defective CUBN causes hereditary megaloblastic anemia 1
HDL clearance


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000093 Proteinuria 
Show

 HP:0000726 Dementia 
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 HP:0001289 Confusion "Lack of clarity and coherence of thought, perception, understanding, or action." [HPO:curators]
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 HP:0001889 Megaloblastic anemia 
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 HP:0003401 Paresthesia "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators]
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 HP:0003474 Sensory impairment 
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 HP:0011463 Childhood onset "Onset of disease at the age of between 1 and 5 years." [DDD:hfirth]
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 HP:0200118 Malabsorption of Vitamin B12 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000118137 APOA1 / P02647 / apolipoprotein A1  / complex / reaction
 ENSG00000134812 GIF / P27352 / gastric intrinsic factor  / reaction / complex
 ENSG00000107611 CUBN / O60494 / cubilin  / complex






 

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