ENSG00000125363


Homo sapiens

Features
Gene ID: ENSG00000125363
  
Biological name :AMELX
  
Synonyms : amelogenin, X-linked / AMELX / Q99217
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: p22.2
Gene start: 11293413
Gene end: 11300761
  
Corresponding Affymetrix probe sets: 208410_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000335312
Ensembl peptide - ENSP00000370088
Ensembl peptide - ENSP00000370090
NCBI entrez gene - 265     See in Manteia.
OMIM - 300391
RefSeq - XM_017029404
RefSeq - NM_001142
RefSeq - NM_182680
RefSeq - NM_182681
RefSeq Peptide - NP_872621
RefSeq Peptide - NP_872622
RefSeq Peptide - NP_001133
swissprot - Q99217
Ensembl - ENSG00000125363
  
Related genetic diseases (OMIM): 301200 - Amelogenesis imperfecta, type 1E, 301200
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
 AmelxENSMUSG00000031354Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AMELY / Q99218 / amelogenin, Y-linkedENSG0000009972182


Protein motifs (from Interpro)
Interpro ID Name
 IPR004116  Amelogenin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001649 osteoblast differentiation ISS
 biological_processGO:0001837 epithelial to mesenchymal transition ISS
 biological_processGO:0002062 chondrocyte differentiation ISS
 biological_processGO:0007155 cell adhesion ISS
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0031214 biomineral tissue development TAS
 biological_processGO:0032967 positive regulation of collagen biosynthetic process ISS
 biological_processGO:0034505 tooth mineralization ISS
 biological_processGO:0042127 regulation of cell proliferation ISS
 biological_processGO:0042475 odontogenesis of dentin-containing tooth ISS
 biological_processGO:0043687 post-translational protein modification TAS
 biological_processGO:0044267 cellular protein metabolic process TAS
 biological_processGO:0070166 enamel mineralization IMP
 biological_processGO:0070172 positive regulation of tooth mineralization TAS
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0009986 cell surface ISS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008083 growth factor activity ISS
 molecular_functionGO:0030345 structural constituent of tooth enamel IMP
 molecular_functionGO:0042802 identical protein binding ISS
 molecular_functionGO:0046848 hydroxyapatite binding ISS


Pathways (from Reactome)
Pathway description
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000691 Microdontia 
Show

 HP:0000705 Amelogenesis imperfecta 
Show

 HP:0001423 X-linked dominant inheritance "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators]
Show

 HP:0001939 Metabolism abnormality 
Show

 HP:0003812 Phenotypic variability 
Show

 HP:0006297 Hypoplastic dental enamel 
Show

 HP:0200095 Anterior open bite 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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