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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. AMELX, amelogenin, X-linked
Sequence ID:NM_001142
NM_182680
NM_182681
RefSeqGene ID:NG_012040
Entrez Gene ID:265
Ensembl ID:ENSG00000125363

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION TYPE 1E 

Cytogenetic Location (from UniGene)

Cytogenetic Location:Xp22.31-p22.1Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:X: 11311532 - 11318881

 Exon Info From UCSC:
NM_001142
NM_182680
NM_182681

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
7216972Full LengthBC069118amelogenin (amelogenesis imperfecta 1, X-linked)
30915277Full LengthBC074951amelogenin (amelogenesis imperfecta 1, X-linked)

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_872622  NP_872621  NP_001133  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_001142 NP_001133 Q99217 Amelogenin
NM_182680 NP_872621   Amelogenin
NM_182681 NP_872622   Amelogenin

Related Sequences

 
mRNAGenPeptSwissProt
M86932 AAA51717 Q99217
S67147 AAB29184 Q99217
BC069118 AAH69118  
BC074951 AAH74951 Q99217
AF436849 AAL30432 Q99217

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens AMELX NP_001133 M.musculus Amelx 11704 Gene Info NP_001075447 87
R.norvegicus Amelx 29160   NP_062027 87

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)