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AMELX Gene

protein-coding   GIFtS: 49

GC0XP011221
amelogenin, X-linked
(Previous names: amelogenin (X chromosome, amelogenesis imperfecta 1) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: AMG, AIH1)
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Aliases &
Descriptions
for AMELX gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases & Descriptions
amelogenin, X-linked1 2     amelogenin (amelogenesis imperfecta 1, X-linked)2
AMGX2 3 5     ALGN2
AMG2 3 5     AMGL2
amelogenin (X chromosome, amelogenesis imperfecta 1)1 2     amelogenin, X isoform2
AIH12 5     amelogenesis imperfecta 12

External Ids:    HGNC: 4611   Entrez Gene: 2652   Ensembl: ENSG000001253637   UniProtKB: Q992173   

Search outside databases for aliases for AMELX gene

Previous GC identifers: GC0XP010290 GC0XP010077 GC0XP010607 GC0XP010672 GC0XP011071

Summaries
for AMELX gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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  User Feedback		 Entrez Gene summary for AMELX:
This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in
biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta.
Alternative splicing results in multiple transcript variants encoding different isoforms. (provided by RefSeq)

UniProtKB/Swiss-Prot: AMELX_HUMAN, Q99217
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

Genomic Views
for AMELX gene

(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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  User Feedback		 Regulatory elements:
"" SABiosciences Regulatory transcription factor binding sites in the AMELX gene upstream (promoter) region "":
C/EBPalpha   SRY   deltaCREB   CREB   Sox9   POU2F1   c-Jun   ATF-2   FOXO3a   FOXO3b   

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

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

Entrez Gene cytogenetic band: Xp22.31-p22.1   Ensembl cytogenetic band:  Xp22.2   HGNC cytogenetic band: Xp22.31-p22.1

AMELX 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 X         GeneLoc Exon Structure

GeneLoc location for GC0XP011221:  view genomic region     (about GC identifiers)

Start:
 11,311,533 bp from pter
End:
 11,318,881 bp from pter
Size:
 7,349 bases
Orientation:
 plus strand
RefSeq DNA sequence:
NC_000023.10  NT_167197.1  

Proteins
for AMELX gene

(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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  User Feedback		 UniProtKB/Swiss-Prot: AMELX_HUMAN, Q99217 (See protein sequence)
Recommended Name: Amelogenin, X isoform precursor  
Size: 191 amino acids; 21603 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 X chromosome
Secondary accessions: Q96NW6 Q9UCA7
Alternative splicing: 3 isoforms:  Q99217-1   Q99217-2   Q99217-3   (Additional isoforms seem to exist)

REFSEQ proteins (3 alternative transcripts): 
NP_001133.1  NP_872621.1  NP_872622.1  


ENSEMBL proteins: 
ENSP00000335312 ENSP00000370088 ENSP00000370090 


Human Recombinant Proteins 
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Novus Biologicals Lysate for AMELX
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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 IDA2509010
GO:0005634 nucleus IDA18029348
GO:0043231 intracellular membrane-bounded organelle IDA18029348
GO:0044420 extracellular matrix part IC1483698
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"" AMELX for ontologies           About GeneDecksing



Antibodies for AMELX: 
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Assays for AMELX: 
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Protein Domains/
Families
for AMELX gene

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

Graphical View of Domain Structure for InterPro Entry Q99217

ProtoNet protein and cluster: Q99217

1 Blocks protein family: IPB004116 Amelogenin

UniProtKB/Swiss-Prot: AMELX_HUMAN, Q99217
Similarity: Belongs to the amelogenin family

Gene Function
for AMELX gene

(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
""Abnova Chimera RNAi Products for Gene knock-down (AMELX)
"" Origene 29mer shRNA kits in GFP-retroviral vector (see all 3): AMELX
Origene shRNA RFP (see all 3): AMELX
Origene basic RS shRNA (see all 3): AMELX

""Applied Biosystems Silencer® siRNAs for AMELX
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"" Origene GFP tagged cDNA clones in CMV expression vector (see all 3): AMELX
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Origene untagged cDNA clones in CMV expression vector (see all 3): AMELX
""Browse Sino Biological Human cDNA Clones  ""

UniProtKB/Swiss-Prot: AMELX_HUMAN, Q99217
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 AMELX:
amelogenin,extracellular matrix protein of the dental enamel,X linked

5/6 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 6 ):

GO IDQualified GO termEvidencePubMed IDs
GO:0005515 protein binding IPI18434575
GO:0008083 growth factor activity ISS1734713
GO:0030345 structural constituent of tooth enamel IMP1483698
GO:0042802 identical protein binding ISS1734713
GO:0043498 cell surface binding ISS1734713
About this table

"" AMELX for ontologies           About GeneDecksing

Animal Models: 2 MGI mutant phenotypes (inferred from 4 alleles"") (MGI details for Amelx):

craniofacialskeleton

"" AMELX for phenotypes           About GeneDecksing

Pathways & Interactions
for AMELX gene

(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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  User Feedback		"" SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AMELX

5/14 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 14 ):

GO IDQualified GO termEvidencePubMed IDs
GO:0001649 osteoblast differentiation ISS1734713
GO:0001837 epithelial to mesenchymal transition ISS1734713
GO:0002062 chondrocyte differentiation ISS1734713
GO:0007155 cell adhesion ISS1734713
GO:0007165 signal transduction TAS16674683
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Drugs & Compounds
for AMELX gene

(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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"" AMELX for compounds           About GeneDecksing

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

"" Browse Tocris compounds for AMELX
3 ""Novoseek chemical compound relationships for AMELX gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
agarose 0.71 1 11073085 (1)
chloride 0.55 1 7981686 (1)
glutathione 0.16 1 19575984 (1)
About this table


Transcripts
for AMELX gene

(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
""Abnova Chimera RNAi Products for Gene knock-down (AMELX)
""Applied Biosystems Silencer® siRNAs:  NM_001142  NM_182680  NM_182681  
"" Origene 29mer shRNA kits in GFP-retroviral vector (see all 3): AMELX
Origene shRNA RFP (see all 3): AMELX
Origene basic RS shRNA (see all 3): AMELX

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microRNA:""Search SABiosciences for microRNAs that regulate AMELX: ""
Assays:  ""Applied Biosystems TaqMan® Gene Expression Assays:  
NM_001142  NM_182680  NM_182681  


Clones:"" Origene GFP tagged cDNA clones in CMV expression vector (see all 3): AMELX
Origene Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): AMELX
Origene untagged cDNA clones in CMV expression vector (see all 3): AMELX
Primers:"" Origene genome-wide validated SYBR primer pairs: AMELX
""SABiosciences RT2 qPCR Primer Assay for AMELX: PPH09286A ""

REFSEQ mRNAs for AMELX gene (3 alternative transcripts): 

NM_001142.2  NM_182680.1  NM_182681.1  

Additional cDNA sequence: 

AF436849.1 BC069118.1 BC074951.2 M86932.1 S67147.1 

2 DOTS entries:

DT.206426  DT.121305004 

9 AceView cDNA sequences:

NM_001142 NM_182681 NM_182680 AF436849 M86932 BC069118 BC074951 S67147 
BG193202 

"" highest scoring ESTs for AMELX:

AC002366 AF436849 BC069118 M86932 BC074951 BG193202 NM_001142 NM_182680 NM_182681 S67147 

Unigene Cluster for AMELX:

Amelogenin (amelogenesis imperfecta 1, X-linked)
Hs.654436
Unigene Representative Sequence: NM_182680


GeneLoc Exon Structure

3 Ensembl transcripts including schematic representations:
ENST00000348912  ENST00000380712  ENST00000380714  

Expression
for AMELX gene

(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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AMELX expression in normal and diseased human tissues

"" Applied Biosystems TaqMan ® Gene Expression Assays for AMELX

1""  / 2""  / 3""

4 probe-sets matching AMELX gene

Affymetrix
probe-set		 Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
34589_f_at2, 3 U95-A 2 0.88 0.64 0.57 1.00 AC002366 0.20 1.00 0.72 1
34588_i_at2, 3 U95-A 1 0.77 1.00 0.97 1.03 AC002366 0.20 1.00 0.72 1
208410_x_at2, 3 U133-A 2 0.73 0.78 -- -- NM_001142 0.40 0.67 0.55 1
208410_x_at2 U133Plus2 2 0.73 0.78 -- -- -- -- -- -- --
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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.654436

Expression variation in blood from EXPOLDB for AMELX

Primers:"" Origene genome-wide validated SYBR primer pairs: AMELX ""
""SABiosciences RT2 qPCR Primer Assay for AMELX: PPH09286A ""

Orthologs
for AMELX gene

(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 AMELX gene from 4 species
Organism Gene Locus Description Human
Similarity		 NCBI accessions
chimpanzee
(Pan troglodytes)		 AMELX1   -- amelogenin (amelogenesis imperfecta 1, X-linked) 100(n)
100(a)		 473517  XM_001143740.1  XP_001143740.1 
cow
(Bos taurus)		 AMELX1   -- amelogenin (amelogenesis imperfecta 1, X-linked) 92.84(n)
90.05(a)		 281620  NM_001014984.1  NP_001014984.1 
rat
(Rattus norvegicus)		 Amelx1   -- amelogenin X chromosome 90.73(n)
86.83(a)		 29160  NM_019154.1  NP_062027.1 
mouse
(Mus musculus)		 Amelx1, 5 X (73.00 cM)5
 amelogenin X chromosome1, 5 90.35(n)1
86.84(a)1		 117041  NM_001081978.11  NP_001075447.11 
 AF0830915  AI3234965  (see all 19)
About this table        Species with no ortholog for AMELX

ENSEMBL Gene Tree for AMELX

Paralogs
for AMELX gene

(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
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Paralogs for AMELX gene
AMELY2  

"" AMELX for paralogs           About GeneDecksing


Genomic Variants
for AMELX gene

(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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Disorders & Mutations
for AMELX gene

(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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"" AMELX for disorders           About GeneDecksing

OMIM: 300391   disorders: 301200  

UniProtKB/Swiss-Prot: AMELX_HUMAN, Q99217

  • Defects in AMELX are the cause of amelogenesis imperfecta hypoplastic type 1 (AIH1) [MIM:301200]. AIH1 is a
    • X-linked defect of dental enamel formation. Teeth have only a thin layer of enamel with normal hardness. The thinness
    of the enamel makes the teeth appear small

    9 ""Novoseek disease relationships for AMELX gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    amelogenesis imperfecta 92.37 29 12952177 (3), 11922868 (3), 11005731 (3), 2187631 (2) (see all 22)
    ameloblastoma 3.53 2 15979380 (2)
    ai 3.39 1 7782077 (1)
    nonsense mutation 3.21 2 8081371 (1), 1483698 (1)
    nhs 2.88 1 7553384 (1)
    calcifying epithelial odontogenic tumor 2.39 1 17384027 (1)
    bite; open 1.99 1 15892947 (1)
    malocclusion 1.32 1 15892947 (1)
    malformation 0.38 1 15111628 (1)
    About this table

    Locus Specific Mutation Databases: AMELX
    Human Gene Mutation Database: AMELX
    Human Genome Epidemiology Navigator: AMELX (2 documents)

    Medical News
    for AMELX gene

    (Possibly Related Articles in Doctor's Guide)
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    Publications
    for AMELX gene

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

      User Feedback    		10/69 PubMed articles for AMELX gene (see all 69 ):

    Search for AMELX gene

    (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)

    Genome Databases showing AMELX gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 265 HGNC: 461 AceView: AMELX Ensembl:ENSG00000125363 euGenes: HUgn265
    ECgene: AMELX H-InvDB: AMELX

    Other Databases showing AMELX gene

    (According to HUGE)
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    Specialized Databases showing AMELX gene

    (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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    Intellectual Property
    for AMELX gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
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      User Feedback    		Patent Information for AMELX gene: ""
    Search GeneIP for patents involving AMELX

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


    Services
    for AMELX gene

    (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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    ""
    Products for AMELX:
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    "" Regulatory tfbs in AMELX upstream (promoter) region
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    "" RT2 qPCR Primer Assay for AMELX
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