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AMELY Gene

protein-coding   GIFtS: 48
GCID: GC0YM006777

Amelogenin, Y-Linked

(Previous name: amelogenin (Y chromosome))
(Previous symbol: AMGL)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Amelogenin, Y-Linked1 2
AMGL1 2 3 5
Amelogenin (Y Chromosome)1 2
AMGY2 3
Amelogenin, Y Isoform2

External Ids:    HGNC: 4621   Entrez Gene: 2662   Ensembl: ENSG000000997217   OMIM: 4100005   UniProtKB: Q992183   

Export aliases for AMELY gene to outside databases

Previous GC identifers: GC0YM006699 GC0YM006436 GC0YM004293


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for AMELY Gene:
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, Jul 2008)

GeneCards Summary for AMELY Gene:
AMELY (amelogenin, Y-linked) is a protein-coding gene. Diseases associated with AMELY include freemartinism, and root resorption. GO annotations related to this gene include structural constituent of tooth enamel. An important paralog of this gene is AMELX.

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

Gene Wiki entry for AMELY Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000024.10  NT_011896.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the AMELY gene promoter:
         TBP   AML1a   FOXF2   FOXL1   MEF-2A   FOXO1a   aMEF-2   RSRFC4   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAMELY promoter sequence
   Search Chromatin IP Primers for AMELY

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat 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)
AMELY gene location

GeneLoc information about 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
Developmental stage: Transiently but abundantly expressed by ameloblasts during tooth development. Amelogenin is
the predominant protein in developing dental enamel
Secondary accessions: Q6RWT1
Alternative splicing: 2 isoforms:  Q99218-2   Q99218-1   

Explore the universe of human proteins at neXtProt for AMELY: NX_Q99218

Explore proteomics data for AMELY at MOPED


See AMELY Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001134.1  
ENSEMBL proteins: 
 ENSP00000215479   ENSP00000372505   ENSP00000372506  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR004116 Amelogenin

Graphical View of Domain Structure for InterPro Entry Q99218

ProtoNet protein and cluster: Q99218

1 Blocks protein domain: IPB004116 Amelogenin

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


AMELY for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: 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

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0030345structural constituent of tooth enamel IDA1734713
     
AMELY for ontologies           About GeneDecksing


Animal Models:
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hsa-mir-335-5p (MIRT017665)

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2 qRT-PCR Assays for microRNAs that regulate AMELY:
hsa-miR-4289 hsa-miR-592
SwitchGear 3'UTR luciferase reporter plasmidAMELY 3' UTR sequence
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
AMELY_HUMAN, Q99218: Secreted, extracellular space, extracellular matrix
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular5
golgi apparatus2
mitochondrion2
cytoskeleton1
endoplasmic reticulum1
lysosome1
nucleus1

Gene Ontology (GO): 2 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005578proteinaceous extracellular matrix IEA--
GO:0031012extracellular matrix IC1734713

AMELY for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AMELY
Interactions:

    Search GeneGlobe Interaction Network for AMELY

STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

Selected Interacting proteins for AMELY (ENSP000002154794) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
InteractantInteraction Details
GeneCardExternal ID(s)
BAG6ENSP000003651314STRING: ENSP00000365131
AHSGENSP000003938874STRING: ENSP00000393887
CD63ENSP000002578574STRING: ENSP00000257857
COL5A3ENSP000002648284STRING: ENSP00000264828
FITM1ENSP000002674264STRING: ENSP00000267426
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Gene Ontology (GO): 2 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007275multicellular organismal development ----
GO:0031214biomineral tissue development IEA--

AMELY for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for AMELY



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for AMELY gene: 
NM_001143.1  

Unigene Cluster for AMELY:

Amelogenin, Y-linked
Hs.1238
Unigene Representative Sequence: NM_001143
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000215479(uc004fqz.3) ENST00000383036 ENST00000383037(uc004fra.1)

miRNA
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2 qRT-PCR Assays for microRNAs that regulate AMELY:
hsa-miR-4289 hsa-miR-592
SwitchGear 3'UTR luciferase reporter plasmidAMELY 3' UTR sequence
Inhib. RNA
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AMELY
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Additional mRNA 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 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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AMELY expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
AMELY Expression
About this image

AMELY Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

AMELY Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.1238
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMELY

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for AMELY gene from Selected species (see all 8)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Amelx1 amelogenin, X-linked 89.53(n)
85.12(a)
  11704  NM_001081978.2  NP_001075447.1 
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
45(a)
1 → many
GL343702.1(32720-43846)
tropical clawed frog
(Xenopus tropicalis)
Amphibia amelx1 amelogenin, X-linked 62.63(n)
56.57(a)
  100135004  NM_001113681.1  NP_001107153.1 


ENSEMBL Gene Tree for AMELY (if available)
TreeFam Gene Tree for AMELY (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for AMELY gene
AMELX2  
1 SIMAP similar gene for AMELY using alignment to 2 protein entries:     AMELY_HUMAN (see all proteins):
AMELX

AMELY for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for AMELY (see all 62)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr Y posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs20713941,2
C--6736154(-) CCTGCG/AGCCCC 2 /R /Q mis1 ese32Minor allele frequency- A:0.05MN NA 20
rs2008349521,2
C--6736357(+) GCTTGC/GTGGCG 2 Q H mis10--------
rs2009418831,2
C--6736371(+) CCTGGG/TCTGCT 2 P T mis10--------
rs358156551,2
C--6736443(-) CCGTGG/ATGTCC 2 /V /M mis11Minor allele frequency- A:0.03MN 39
rs348208581,2
C--6736812(-) GTGCTC/AACCCC 2 /L syn12Minor allele frequency- A:0.02MN NA 46
rs133045211,2
C--6740510(+) TTTAAA/CCCTTA 1 -- int11Minor allele frequency- C:0.00NA 2
rs345519241,2
C--6740704(-) ACATGT/CTTGAG 1 -- int12Minor allele frequency- C:0.02MN NA 47
rs133040661,2
C--6743405(+) AGAAAA/TTTTTT 1 -- us2k10--------
rs3746309291,2
----6740377(-) CTTTGC/TAAATG 1 -- int10--------
rs3688002471,2
----6739856(-) TGCCGC/TGCTAA 1 -- int10--------

HapMap Linkage Disequilibrium report for AMELY (6733959 - 6742068 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for AMELY:    About this table    
Variant IDTypeSubtypePubMed ID
nsv7473OTHER Inversion18451855

Human Gene Mutation Database (HGMD): AMELY
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing AMELY
DNA2.0 Custom Variant and Variant Library Synthesis for AMELY

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 410000    OMIM disorders: --

9 diseases for AMELY:    
About MalaCards
freemartinism    root resorption    dental pulp necrosis    dental fluorosis
amelogenesis imperfecta    turner syndrome    azoospermia    periodontal disease
periodontitis

4 diseases from the University of Copenhagen DISEASES database for AMELY:
Amelogenesis imperfecta     Dental fluorosis     Dental pulp necrosis     Turner syndrome

AMELY for disorders           About GeneDecksing

1 Novoseek inferred disease relationship for AMELY gene    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
amelogenesis imperfecta 72.4 2 10218009 (1)

Human Genome Epidemiology (HuGE) Navigator: AMELY (1 document)

Export disorders for AMELY gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for AMELY gene, integrated from 10 sources (see all 31):
(articles sorted by number of sources associating them with AMELY)
    Utopia: connect your pdf to the dynamic
world of online information

  1. A human X-Y homologous region encodes 'amelogenin'. (PubMed id 2004775)1, 2, 3 Nakahori Y.... Nakagome Y. (Genomics 1991)
  2. The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes. (PubMed id 1734713)1, 2, 9 Salido E.C.... Shapiro L.J. (Am. J. Hum. Genet. 1992)
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  4. [Types and frequencies of variants in Amelogenin gene in Chinese population]. (PubMed id 18067069)1, 9 Chen A.P....Sun H.Y. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007)
  5. Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y. (PubMed id 17189292)1, 9 Jobling M.A....Parkin E.J. (Hum. Mol. Genet. 2007)
  6. Y chromosome interstitial deletion induced Y-STR allele dropout in AMELY-negative individuals. (PubMed id 22669323)1 Ma Y....Hou Y.P. (Int. J. Legal Med. 2012)
  7. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
  8. Molecular characterization of a polymorphic 3-Mb deletion at chromosome Yp11.2 containing the AMELY locus in Singapore and Malaysia populations. (PubMed id 17588179)1 Yong R.Y....Yap E.P. (Hum. Genet. 2007)
  9. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. (PubMed id 12815422)1 Skaletsky H.... Page D.C. (Nature 2003)
  10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(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 PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for AMELY Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, 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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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