AMELY Gene
protein-coding GIFtS: 46
GCID: GC0YM006777
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amelogenin, Y-linked(Previous name: amelogenin (Y chromosome) )
(Previous symbol: AMGL)
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Aliases
for AMELY gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Amelogenin, Y-Linked1 2 | | AMGL1 2 3 5 | | Amelogenin (Y Chromosome)1 2 | | AMGY2 3 | | Amelogenin, Y Isoform2 |
Export aliases for AMELY gene to outside databasesPrevious GC identifers: GC0YM006699 GC0YM006436 GC0YM004293 |
Summaries
for AMELY gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for AMELY:
This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved inbiomineralization during tooth enamel development. Mutations in a related gene on chromosome X cause X-linkedamelogenesis imperfecta. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: AMELY_HUMAN, Q99218Function: Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stageof tooth enamel development. Thought to play a major role in the structural organization and mineralization ofdeveloping enamel
Gene Wiki entry for AMELY
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000024.9 NT_011896.9
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the AMELY gene promoter:
TBP AML1a FOXF2 FOXL1 MEF-2A FOXO1a aMEF-2 RSRFC4 FOXO1
Other transcription factors
Search SABiosciences Chromatin IP Primers for AMELY
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: Yp11.2AMELY Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome Y GeneLoc Exon Structure GeneLoc location for GC0YM006777: view genomic region
(about GC identifiers)
Start:
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6,733,959 bp from pter |
End:
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6,742,068 bp from pter |
Size:
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8,110 bases |
Orientation:
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minus strand |
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Proteins
for AMELY gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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 thepredominant protein in developing dental enamel
Secondary accessions: Q6RWT1Alternative splicing: 2 isoforms: Q99218-2 Q99218-1 Explore the universe of human proteins at neXtProt for AMELY: NX_Q99218
AMELY Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001134.1
ENSEMBL proteins: ENSP00000215479 ENSP00000372505 ENSP00000372506
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
AMELY for ontologies About GeneDecksing
AMELY Antibody Products:
Assay Products for AMELY: |
Protein
Domains /
Families
for AMELY gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
AMELY for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q99218ProtoNet protein and cluster: Q99218 1 Blocks protein family: IPB004116 Amelogenin
UniProtKB/Swiss-Prot: AMELY_HUMAN, Q99218Similarity: Belongs to the amelogenin family |
Function
for AMELY gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: AMELY_HUMAN, Q99218Function: Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stageof tooth enamel development. Thought to play a major role in the structural organization and mineralization ofdeveloping enamel Genatlas biochemistry entry for AMELY:amelogenin,extracellular matrix protein of the dental enamel,Y linked
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AMELY
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AMELY
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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| |  | GenScript: all cDNA clones in your preferred vector: AMELY (NM_001143) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AMELY | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AMELY |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0030345 | structural constituent of tooth enamel |
IDA | 1734713 |
AMELY for ontologies About GeneDecksing
|
Pathways & Interactions
for AMELY gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AMELY
STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)
2 Interacting proteins for AMELY (ENSP000002154794) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0031214 | biomineral tissue development |
IEA | -- |
AMELY for ontologies About GeneDecksing
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Drugs & Compounds
for AMELY gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for AMELY
Search CenterWatch for drugs/clinical trials and news about AMELY
|
Transcripts
for AMELY gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for AMELY gene: NM_001143.1 Unigene Cluster for AMELY: Amelogenin, Y-linked Hs.1238 Unigene Representative Sequence: NM_0011433 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000215479(uc004fqz.3) ENST00000383036 ENST00000383037(uc004fra.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AMELY
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AMELY
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: AMELY (NM_001143) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AMELY | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AMELY |
Additional cDNA sequence: AY487421.1 BC069138.1 BC074976.1 BC074977.1 M86933.1 1 DOTS entry: DT.404954 6 AceView cDNA sequences: BC074976 NM_001143 M86933 BC074977 BC069138 AY487421
GeneLoc Exon Structure
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Expression
for AMELY gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| AMELY expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See AMELY Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AMELY
SOURCE GeneReport for Unigene cluster: Hs.1238
SABiosciences Custom PCR Arrays for AMELY
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AMELY
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat AMELY | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AMELY | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AMELY |
Orthologs
for AMELY gene
(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)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for AMELY gene from 1/5 species (see all 5) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
lizard
(Anolis carolinensis) |
Reptilia |
-- |
-- |
45(a) |
1 → many |
GL343702.1(36424-41303) |
ENSEMBL Gene Tree for AMELY (if available)
TreeFam Gene Tree for AMELY (if available) |
Paralogs
for AMELY gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| 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
|
Genomic Variants
for AMELY gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr Y pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for AMELY (6733959 - 6742068 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for AMELY: --
Human Gene Mutation Database (HGMD): AMELY
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AMELY |
|
Disorders
/ Diseases
for AMELY gene
(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.)
About This Section
|
AMELY for disorders About GeneDecksing
OMIM gene information: 410000
OMIM disorders: --
8  diseases for AMELY: About MalaCardsamelogenesis imperfecta dental pulp necrosis root resorption dental fluorosis
freemartinism azoospermia periodontal disease periodontitis
6 diseases from the University of Copenhagen DISEASES database for AMELY:Amelogenesis imperfecta Dental fluorosis Dental pulp necrosis Turner syndrome
Freemartinism Root resorption 1 Novoseek 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
|
Publications
for AMELY gene (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)
About This Section
|
PubMed articles for AMELY gene, integrated from 9 sources (see all 30):
(articles sorted by number of sources associating them with AMELY) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- A human X-Y homologous region encodes 'amelogenin'. (PubMed id 2004775)1, 2, 3 Nakahori Y.... Nakagome Y. (1991)
- 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. (1992)
- 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. (2004)
- [Types and frequencies of variants in Amelogenin gene in Chinese population] (PubMed id 18067069)1, 9 Chen A.P....Sun H.Y. (2007)
- 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. (2007)
- Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
- 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. (2007)
- 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. (2003)
- 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. (2002)
- Molecular cloning and mapping of 10 new probes on the human Y chromosome. (PubMed id 2037302)1 Nakahori Y....Fukushima Y. (1991)
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External Searches for AMELY gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing AMELY gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing AMELY gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing AMELY gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for AMELY | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| 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
|
Products
for AMELY gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for AMELY | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AMELY | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AMELY | | | OriGene Protein Over-expression Lysate for AMELY | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for AMELY | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AMELY | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AMELY | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for AMELY | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for AMELY | | OriGene Custom Protein Services for AMELY | | | OriGene Custom Immunoassay Development | | |
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 |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat AMELY | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AMELY | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AMELY | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AMELY | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AMELY | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AMELY |
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| | | | Search Tocris compounds for AMELY |
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 | | | AMELY Proteins, Antibodies, CLIAs, and ELISAs |
| | | |  |  |  | | | | Search ThermoFisher Antibodies for AMELY |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AMELY |
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