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AMELX (amelogenin, X-linked)

Identity

Other namesAI1E
AIH1
ALGN
AMG
AMGL
AMGX
HGNC (Hugo) AMELX
LocusID (NCBI) 265
Location Xp22.2
Location_base_pair Starts at 11311533 and ends at 11318881 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)AMELX   461
Cards
Entrez_Gene (NCBI)AMELX  265  amelogenin, X-linked
GeneCards (Weizmann)AMELX
Ensembl (Hinxton)ENSG00000125363 [Gene_View]  chrX:11311533-11318881 [Contig_View]  AMELX [Vega]
ICGC DataPortalENSG00000125363
cBioPortalAMELX
AceView (NCBI)AMELX
Genatlas (Paris)AMELX
WikiGenes265
SOURCE (Princeton)NM_001142 NM_182680 NM_182681
Genomic and cartography
GoldenPath (UCSC)AMELX  -  Xp22.2   chrX:11311533-11318881 +  Xp22.2   [Description]    (hg19-Feb_2009)
EnsemblAMELX - Xp22.2 [CytoView]
Mapping of homologs : NCBIAMELX [Mapview]
OMIM300391   301200   
Gene and transcription
Genbank (Entrez)AF436849 BC069118 BC074951 M86932 S67147
RefSeq transcript (Entrez)NM_001142 NM_182680 NM_182681
RefSeq genomic (Entrez)AC_000155 NC_000023 NC_018934 NG_012040 NG_012494 NT_167197 NW_001842360 NW_004929438
Consensus coding sequences : CCDS (NCBI)AMELX
Cluster EST : UnigeneHs.654436 [ NCBI ]
CGAP (NCI)Hs.654436
Alternative Splicing : Fast-db (Paris)GSHG0031374
Alternative Splicing GalleryENSG00000125363
Gene ExpressionAMELX [ NCBI-GEO ]     AMELX [ SEEK ]   AMELX [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99217 (Uniprot)
NextProtQ99217  [Medical]
With graphics : InterProQ99217
Splice isoforms : SwissVarQ99217 (Swissvar)
Domains : Interpro (EBI)Amelogenin [organisation]  
Related proteins : CluSTrQ99217
Domain families : Pfam (Sanger)Amelogenin (PF02948)   
Domain families : Pfam (NCBI)pfam02948   
Domain families : Smart (EMBL)Amelogenin (SM00818)  
DMDM Disease mutations265
Blocks (Seattle)Q99217
Human Protein AtlasENSG00000125363 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ99217
HPRD02313
IPIIPI00013959   IPI00220033   IPI00220034   IPI00982736   
Protein Interaction databases
DIP (DOE-UCLA)Q99217
IntAct (EBI)Q99217
FunCoupENSG00000125363
BioGRIDAMELX
InParanoidQ99217
Interologous Interaction database Q99217
IntegromeDBAMELX
STRING (EMBL)AMELX
Ontologies - Pathways
Ontology : AmiGOosteoblast differentiation  epithelial to mesenchymal transition  chondrocyte differentiation  protein binding  proteinaceous extracellular matrix  cell adhesion  signal transduction  growth factor activity  cell proliferation  cell surface  structural constituent of tooth enamel  structural constituent of tooth enamel  biomineral tissue development  positive regulation of collagen biosynthetic process  tooth mineralization  tooth mineralization  odontogenesis of dentin-containing tooth  identical protein binding  hydroxyapatite binding  ion homeostasis  enamel mineralization  positive regulation of tooth mineralization  
Ontology : EGO-EBIosteoblast differentiation  epithelial to mesenchymal transition  chondrocyte differentiation  protein binding  proteinaceous extracellular matrix  cell adhesion  signal transduction  growth factor activity  cell proliferation  cell surface  structural constituent of tooth enamel  structural constituent of tooth enamel  biomineral tissue development  positive regulation of collagen biosynthetic process  tooth mineralization  tooth mineralization  odontogenesis of dentin-containing tooth  identical protein binding  hydroxyapatite binding  ion homeostasis  enamel mineralization  positive regulation of tooth mineralization  
Protein Interaction DatabaseAMELX
Wikipedia pathwaysAMELX
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)AMELX
snp3D : Map Gene to Disease265
SNP (GeneSNP Utah)AMELX
SNP : HGBaseAMELX
Genetic variants : HAPMAPAMELX
Exome VariantAMELX
1000_GenomesAMELX 
ICGC programENSG00000125363 
Somatic Mutations in Cancer : COSMICAMELX 
CONAN: Copy Number AnalysisAMELX 
Mutations and Diseases : HGMDAMELX
Mutations and Diseases : intOGenAMELX
Genomic VariantsAMELX  AMELX [DGVbeta]
dbVarAMELX
ClinVarAMELX
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM300391    301200   
MedgenAMELX
GENETestsAMELX
Disease Genetic AssociationAMELX
Huge Navigator AMELX [HugePedia]  AMELX [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneAMELX
Homology/Alignments : Family Browser (UCSC)AMELX
Phylogenetic Trees/Animal Genes : TreeFamAMELX
Chemical/Protein Interactions : CTD265
Chemical/Pharm GKB GenePA24766
Clinical trialAMELX
Cancer Resource (Charite)ENSG00000125363
Other databases
Probes
Litterature
PubMed48 Pubmed reference(s) in Entrez
CoreMineAMELX
iHOPAMELX
OncoSearchAMELX
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 22 18:38:09 CEST 2014

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