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AMELY Gene

protein-coding   GIFtS: 41

GC0YM006777
amelogenin, Y-linked
(Previous name: amelogenin (Y chromosome) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: AMGL)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases & Descriptions
amelogenin, Y-linked1 2
AMGL2 3 5
amelogenin (Y chromosome)1 2
AMGY2 3
amelogenin, Y isoform2

External Ids:    HGNC: 4621   Entrez Gene: 2662   Ensembl: ENSG000000997217   UniProtKB: Q992183   

Search outside databases for aliases for AMELY gene

Previous GC identifers: GC0YM006699 GC0YM006436

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for AMELY:
This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in
biomineralization during tooth enamel development. Mutations in a related gene on chromosome X cause X-linked
amelogenesis imperfecta. (provided by RefSeq)

UniProtKB/Swiss-Prot: AMELY_HUMAN, Q99218
Function: Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stage
of tooth enamel development. Thought to play a major role in the structural organization and mineralization of
developing enamel

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC and Ensembl (release 56), Regulatory elements and Epigenetics data according to SABiosciences)
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Regulatory elements:
"" SABiosciences Regulatory transcription factor binding sites in the AMELY gene upstream (promoter) region "":
POU2F1   Pax-6   FOXO4   GATA-1   GATA-3   GATA-2   E47   FOXL1   CHOP-10   C/EBPalpha   

Epigenetics:
"" Search SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for AMELY ""

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Yp11.2   Ensembl cytogenetic band:  Yp11.2   HGNC cytogenetic band: Yp11.2

AMELY Gene in genomic location: bands according to Ensembl, locations according to "" (and/or Entrez Gene and/or Ensembl if different)
""

GeneLoc gene densities for chromosome Y         GeneLoc Exon Structure

GeneLoc location for GC0YM006777:  view genomic region     (about GC identifiers)

Start:
6,733,959 bp from pter
End:
6,742,068 bp from pter
Size:
8,110 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000024.9  NT_011896.9  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene, Novus Biologicals, and/or Sino Biological,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 May 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abnova, OriGene, Novus Biologicals, and/or Epitomics)
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UniProtKB/Swiss-Prot: AMELY_HUMAN, Q99218 (See protein sequence)
Recommended Name: Amelogenin, Y isoform precursor  
Size: 206 amino acids; 23250 Da
Subcellular location: Secreted, extracellular space, extracellular matrix
Developmental stage: Transiently but abundantly expressed by ameloblasts during tooth development. Amelogenin is the
predominant protein in developing dental enamel
Miscellaneous: This isoform is encoded on the Y chromosome
Secondary accessions: Q6RWT1
Alternative splicing: 2 isoforms:  Q99218-2   Q99218-1   

REFSEQ proteins: NP_001134.1  

ENSEMBL proteins: 
ENSP00000372506 ENSP00000372505 ENSP00000215479 


Human Recombinant Proteins 
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5 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005576 extracellular region IEA--
GO:0005578 proteinaceous extracellular matrix IEA--
GO:0005634 nucleus IDA18029348
GO:0043231 intracellular membrane-bounded organelle IDA18029348
GO:0044420 extracellular matrix part IC1734713
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"" AMELY for ontologies           About GeneDecksing



Antibodies for AMELY: 
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Assays for AMELY: 
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""Browse Enzo Life Sciences for kits & assays

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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"" AMELY for domains           About GeneDecksing

1 InterPro domain/family:
 IPR004116 Amelogenin

Graphical View of Domain Structure for InterPro Entry Q99218

ProtoNet protein and cluster: Q99218

1 Blocks protein family: IPB004116 Amelogenin

UniProtKB/Swiss-Prot: AMELY_HUMAN, Q99218
Similarity: Belongs to the amelogenin family

(According to MGI May 08 2010, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, Abnova, siRNAs from Applied Biosystems, Sigma-Aldrich, Clones from Millipore, Sigma-Aldrich, OriGene, Sino Biological, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene.)
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Inhib.
RNA:
""Browse for Gene Knock-down Tools from Millipore
""Browse Abnova for Chimera RNAi Products
"" Origene 29mer shRNA kits in GFP-retroviral vector: AMELY
Origene shRNA RFP: AMELY
Origene basic RS shRNA: AMELY

""Applied Biosystems Silencer® siRNAs for AMELY
""Sigma-Aldrich siRNA for AMELY
Sigma-Aldrich shRNA for AMELY
Explore Sigma-Aldrich super-pooled esiRNAs
Clones:""Browse Clones for the Expression of Recombinant Proteins Available from Millipore
""Browse iPSC Reprogramming Factors at Sigma-Aldrich
"" Origene GFP tagged cDNA clones in CMV expression vector: AMELY
Origene Myc/DDK tagged cDNA clones in CMV expression vector: AMELY
Origene untagged cDNA clones in CMV expression vector: AMELY
""Browse Sino Biological Human cDNA Clones  ""

UniProtKB/Swiss-Prot: AMELY_HUMAN, Q99218
Function: Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stage
of tooth enamel development. Thought to play a major role in the structural organization and mineralization of
developing enamel

Genatlas biochemistry entry for AMELY:
amelogenin,extracellular matrix protein of the dental enamel,Y linked

1 Gene Ontology (GO) molecular function term (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0030345 structural constituent of tooth enamel IDA1734713
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(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, Applied Biosystems GeneAssist, KEGG and/or UniProtKB, (map by GeneGo),
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene).
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"" Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AMELY

2 Gene Ontology (GO) biological process terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0007275 multicellular organismal development IEA--
GO:0031214 biomineral formation IEA--
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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
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"" AMELY for compounds           About GeneDecksing

"" Browse drugs & compounds from Enzo Life Sciences
""Browse Small Molecules at Sigma-Aldrich

"" Browse Tocris compounds for AMELY
3 ""Novoseek chemical compound relationships for AMELY gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
amex 3.52 1 15979380 (1)
agarose 1.01 1 11073085 (1)
zinc 0.47 1 16757184 (1)
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(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 223 Homo sapiens; Apr 2 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from SABiosciences,
Tagged/untagged cDNA clones from OriGene, Primers from OriGene and/or SABiosciences,
Expression Assays from Applied Biosystems)
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Inhib.
RNA:
""Browse for Gene Knock-down Tools from Millipore
""Browse Abnova for Chimera RNAi Products
""Applied Biosystems Silencer® siRNAs:  NM_001143  
"" Origene 29mer shRNA kits in GFP-retroviral vector: AMELY
Origene shRNA RFP: AMELY
Origene basic RS shRNA: AMELY

""Sigma-Aldrich siRNA for AMELY
Sigma-Aldrich shRNA for AMELY
Explore Sigma-Aldrich super-pooled esiRNAs

microRNA:""Search SABiosciences for microRNAs that regulate AMELY: ""
Assays:  ""Applied Biosystems TaqMan® Gene Expression Assays:  
NM_001143  


Clones:"" Origene GFP tagged cDNA clones in CMV expression vector: AMELY
Origene Myc/DDK tagged cDNA clones in CMV expression vector: AMELY
Origene untagged cDNA clones in CMV expression vector: AMELY
Primers:"" Origene genome-wide validated SYBR primer pairs: AMELY
""SABiosciences RT2 qPCR Primer Assay for AMELY: PPH07058A ""

REFSEQ mRNAs for AMELY gene: 

NM_001143.1  

Additional cDNA sequence: 

AY487421.1 BC069138.1 BC074976.1 BC074977.1 M86933.1 

1 DOTS entry:

DT.404954 

6 AceView cDNA sequences:

NM_001143 BC074977 BC074976 BC069138 M86933 AY487421 

"" highest scoring ESTs for AMELY:

M86933 BC069138 BC074976 BC074977 BG198114 NM_001143 AY487421 

Unigene Cluster for AMELY:

Amelogenin, Y-linked
Hs.1238
Unigene Representative Sequence: NM_001143


GeneLoc Exon Structure

3 Ensembl transcripts including schematic representations:
ENST00000383037  ENST00000383036  ENST00000215479  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 223 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems, Primers from OriGene and/or SABiosciences )
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AMELY expression in normal and diseased human tissues

"" Applied Biosystems TaqMan ® Gene Expression Assays for AMELY

1""  / 2""  / 3""

3 probe-sets matching AMELY gene

Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
32991_f_at2, 3 U95-A 2 1.00 0.72 1.00 1.00 M86933 1.00 1.00 1.00 1
208220_x_at2, 3 U133-A 2 0.73 0.83 -- -- NM_001143 0.60 1.00 0.82 1
208220_x_at2 U133Plus2 2 0.73 0.83 -- -- -- -- -- -- --
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Data from Genenote  (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.1238
Primers:"" Origene genome-wide validated SYBR primer pairs: AMELY ""
""SABiosciences RT2 qPCR Primer Assay for AMELY: PPH07058A ""
(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI May 08 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for AMELY gene from 1 species
Organism Gene Locus Description Human
Similarity
NCBI accessions
chimpanzee
(Pan troglodytes)
AMELY1   -- amelogenin, Y-linked 99.13(n)
97.92(a)
473886  XM_001145573.1  XP_001145573.1 
About this table        Species with no ortholog for AMELY

ENSEMBL Gene Tree for AMELY
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
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Paralogs for AMELY gene
AMELX2  

"" AMELY for paralogs           About GeneDecksing


(SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Genotyping Reagents from Applied Biosystems)
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  --
(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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"" AMELY for disorders           About GeneDecksing

OMIM: 410000

3 ""Novoseek disease relationships for AMELY gene

Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
ameloblastoma 4.18 2 15979380 (2)
amelogenesis imperfecta 2.41 1 10218009 (1)
kallmann syndrome 2.30 1 8283649 (1)
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Human Gene Mutation Database: AMELY
Human Genome Epidemiology Navigator: AMELY (1 document)

(Possibly Related Articles in Doctor's Guide)
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  --

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
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10/27 PubMed articles for AMELY gene (see all 27 ):
(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Disorders
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)
(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 266 HGNC: 462 AceView: AMELY Ensembl:ENSG00000099721 euGenes: HUgn266
ECgene: AMELY H-InvDB: AMELY
(According to HUGE)
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  --
(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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  --
(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from XenneX, Inc.)
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Patent Information for AMELY gene: ""
Search GeneIP for patents involving AMELY

GeneCards and IP: ""
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search


(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Novus Biologicals,
Epitomics, Sigma-Aldrich, R&D Systems, SABiosciences, Millipore, Abnova,
Clones available from OriGene, Sigma-Aldrich, Sino Biological, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience)
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""
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