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AMELX (amelogenin, X-linked)

Identity

Other namesAI1E
AIH1
ALGN
AMG
AMGL
AMGX
HGNC (Hugo) AMELX
LocusID (NCBI) 265
Atlas_Id 46794
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
AliasesAI1E; AIH1; ALGN; AMG; 
AMGL; AMGX
GeneCards (Weizmann)AMELX
Ensembl hg19 (Hinxton)ENSG00000125363 [Gene_View]  chrX:11311533-11318881 [Contig_View]  AMELX [Vega]
Ensembl hg38 (Hinxton)ENSG00000125363 [Gene_View]  chrX:11311533-11318881 [Contig_View]  AMELX [Vega]
ICGC DataPortalENSG00000125363
TCGA cBioPortalAMELX
AceView (NCBI)AMELX
Genatlas (Paris)AMELX
WikiGenes265
SOURCE (Princeton)AMELX
Genomic and cartography
GoldenPath hg19 (UCSC)AMELX  -     chrX:11311533-11318881 +  Xp22.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)AMELX  -     Xp22.2   [Description]    (hg38-Dec_2013)
EnsemblAMELX - Xp22.2 [CytoView hg19]  AMELX - Xp22.2 [CytoView hg38]
Mapping of homologs : NCBIAMELX [Mapview hg19]  AMELX [Mapview hg38]
OMIM300391   301200   
Gene and transcription
Genbank (Entrez)AF436849 BC069118 BC074951 M86932 S67147
RefSeq transcript (Entrez)NM_001142 NM_182680 NM_182681
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_012040 NG_012494 NT_167197 NW_004929438
Consensus coding sequences : CCDS (NCBI)AMELX
Cluster EST : UnigeneHs.654436 [ NCBI ]
CGAP (NCI)Hs.654436
Alternative Splicing GalleryENSG00000125363
Gene ExpressionAMELX [ NCBI-GEO ]   AMELX [ EBI - ARRAY_EXPRESS ]   AMELX [ SEEK ]   AMELX [ MEM ]
Gene Expression Viewer (FireBrowse)AMELX [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)265
GTEX Portal (Tissue expression)AMELX
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99217 (Uniprot)
NextProtQ99217  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99217
Splice isoforms : SwissVarQ99217 (Swissvar)
PhosPhoSitePlusQ99217
Domains : Interpro (EBI)Amelogenin   
Domain families : Pfam (Sanger)Amelogenin (PF02948)   
Domain families : Pfam (NCBI)pfam02948   
Domain families : Smart (EMBL)Amelogenin (SM00818)  
DMDM Disease mutations265
Blocks (Seattle)AMELX
SuperfamilyQ99217
Human Protein AtlasENSG00000125363
Peptide AtlasQ99217
HPRD02313
IPIIPI00013959   IPI00220033   IPI00220034   IPI00982736   
Protein Interaction databases
DIP (DOE-UCLA)Q99217
IntAct (EBI)Q99217
FunCoupENSG00000125363
BioGRIDAMELX
STRING (EMBL)AMELX
ZODIACAMELX
Ontologies - Pathways
QuickGOQ99217
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  
NDEx Network
Atlas of Cancer Signalling NetworkAMELX
Wikipedia pathwaysAMELX
Orthology - Evolution
OrthoDB265
GeneTree (enSembl)ENSG00000125363
Phylogenetic Trees/Animal Genes : TreeFamAMELX
Homologs : HomoloGeneAMELX
Homology/Alignments : Family Browser (UCSC)AMELX
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerAMELX [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AMELX
dbVarAMELX
ClinVarAMELX
1000_GenomesAMELX 
Exome Variant ServerAMELX
ExAC (Exome Aggregation Consortium)AMELX (select the gene name)
Genetic variants : HAPMAP265
Genomic Variants (DGV)AMELX [DGVbeta]
Mutations
ICGC Data PortalAMELX 
TCGA Data PortalAMELX 
Broad Tumor PortalAMELX
OASIS PortalAMELX [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAMELX 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch AMELX
DgiDB (Drug Gene Interaction Database)AMELX
DoCM (Curated mutations)AMELX (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AMELX (select a term)
intoGenAMELX
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)X:11311533-11318881  ENSG00000125363
CONAN: Copy Number AnalysisAMELX 
Mutations and Diseases : HGMDAMELX
OMIM300391    301200   
MedgenAMELX
Genetic Testing Registry AMELX
NextProtQ99217 [Medical]
TSGene265
GENETestsAMELX
Huge Navigator AMELX [HugePedia]
snp3D : Map Gene to Disease265
BioCentury BCIQAMELX
ClinGenAMELX
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD265
Chemical/Pharm GKB GenePA24766
Clinical trialAMELX
Miscellaneous
canSAR (ICR)AMELX (select the gene name)
Probes
Litterature
PubMed51 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAMELX
EVEXAMELX
GoPubMedAMELX
iHOPAMELX
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat May 28 10:53:38 CEST 2016

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