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Aliases for AMELX Gene

Aliases for AMELX Gene

  • Amelogenin, X-Linked 2 3
  • Amelogenin (X Chromosome, Amelogenesis Imperfecta 1) 2 3
  • Amelogenesis Imperfecta 1 2 3
  • AMGX 3 4
  • AMG 3 4
  • Amelogenin (Amelogenesis Imperfecta 1, X-Linked) 3
  • AMGL 3
  • AI1E 3
  • ALGN 3
  • AIH1 3

External Ids for AMELX Gene

Previous HGNC Symbols for AMELX Gene

  • AMG
  • AIH1

Previous GeneCards Identifiers for AMELX Gene

  • GC0XP010290
  • GC0XP010077
  • GC0XP010607
  • GC0XP010672
  • GC0XP011071
  • GC0XP011221
  • GC0XP009091

Summaries for AMELX Gene

Entrez Gene Summary for AMELX 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 this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for AMELX Gene

AMELX (Amelogenin, X-Linked) is a Protein Coding gene. Diseases associated with AMELX include amelogenesis imperfecta, type 1e and dental abscess. GO annotations related to this gene include identical protein binding and structural constituent of tooth enamel. An important paralog of this gene is AMELY.

UniProtKB/Swiss-Prot for AMELX Gene

  • 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 AMELX Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AMELX Gene

Genomics for AMELX Gene

Regulatory Elements for AMELX Gene

Genomic Location for AMELX Gene

Chromosome:
X
Start:
11,292,578 bp from pter
End:
11,300,761 bp from pter
Size:
8,184 bases
Orientation:
Plus strand

Genomic View for AMELX Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AMELX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AMELX Gene

Proteins for AMELX Gene

  • Protein details for AMELX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99217-AMELX_HUMAN
    Recommended name:
    Amelogenin, X isoform
    Protein Accession:
    Q99217
    Secondary Accessions:
    • Q96NW6
    • Q9UCA7

    Protein attributes for AMELX Gene

    Size:
    191 amino acids
    Molecular mass:
    21603 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for AMELX Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AMELX Gene

Proteomics data for AMELX Gene at MOPED

Post-translational modifications for AMELX Gene

Other Protein References for AMELX Gene

Antibody Products

No data available for DME Specific Peptides for AMELX Gene

Domains & Families for AMELX Gene

Protein Domains for AMELX Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for AMELX Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99217

UniProtKB/Swiss-Prot:

AMELX_HUMAN :
  • Belongs to the amelogenin family.
Family:
  • Belongs to the amelogenin family.
genes like me logo Genes that share domains with AMELX: view

No data available for Gene Families for AMELX Gene

Function for AMELX Gene

Molecular function for AMELX Gene

GENATLAS Biochemistry:
amelogenin,extracellular matrix protein of the dental enamel,X linked
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for AMELX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18434575
GO:0008083 growth factor activity ISS 1734713
GO:0030345 structural constituent of tooth enamel IMP 1483698
GO:0042802 identical protein binding ISS 1734713
GO:0046848 hydroxyapatite binding ISS 1734713
genes like me logo Genes that share ontologies with AMELX: view

Phenotypes for AMELX Gene

genes like me logo Genes that share phenotypes with AMELX: view

Animal Models for AMELX Gene

MGI Knock Outs for AMELX:

Animal Model Products

miRNA for AMELX Gene

miRTarBase miRNAs that target AMELX

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AMELX

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for AMELX Gene

Localization for AMELX Gene

Subcellular locations from UniProtKB/Swiss-Prot for AMELX Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AMELX Gene COMPARTMENTS Subcellular localization image for AMELX gene
Compartment Confidence
extracellular 5
cytoskeleton 1
cytosol 1

Gene Ontology (GO) - Cellular Components for AMELX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IDA 2509010
GO:0009986 cell surface ISS 1734713
genes like me logo Genes that share ontologies with AMELX: view

Pathways & Interactions for AMELX Gene

SuperPathways for AMELX Gene

No Data Available

Interacting Proteins for AMELX Gene

Gene Ontology (GO) - Biological Process for AMELX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation ISS 1734713
GO:0001837 epithelial to mesenchymal transition ISS 1734713
GO:0002062 chondrocyte differentiation ISS 1734713
GO:0007155 cell adhesion ISS 1734713
GO:0007165 signal transduction TAS 16674683
genes like me logo Genes that share ontologies with AMELX: view

No data available for Pathways by source and SIGNOR curated interactions for AMELX Gene

Drugs & Compounds for AMELX Gene

No Compound Related Data Available

Transcripts for AMELX Gene

mRNA/cDNA for AMELX Gene

(4) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AMELX Gene

Amelogenin, X-linked:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AMELX

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AMELX Gene

No ASD Table

Relevant External Links for AMELX Gene

GeneLoc Exon Structure for
AMELX
ECgene alternative splicing isoforms for
AMELX

Expression for AMELX Gene

mRNA expression in normal human tissues for AMELX Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AMELX Gene

This gene is overexpressed in Brain - Amygdala (x14.4) and Testis (x10.0).

SOURCE GeneReport for Unigene cluster for AMELX Gene Hs.654436

genes like me logo Genes that share expression patterns with AMELX: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for AMELX Gene

Orthologs for AMELX Gene

This gene was present in the common ancestor of chordates.

Orthologs for AMELX Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia AMELX 35
  • 91.62 (n)
  • 88.48 (a)
AMELX 36
  • 81 (a)
ManyToMany
AMGY 36
  • 86 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia AMELX 35
  • 93.72 (n)
  • 91.62 (a)
AMELX 36
  • 91 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Amelx 35
  • 92.73 (n)
  • 91.73 (a)
mouse
(Mus musculus)
Mammalia Amelx 16
Amelx 36
  • 75 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia AMELX 36
  • 67 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia AMEL 36
  • 79 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia AMELX 36
  • 100 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 47 (a)
OneToMany
Species with no ortholog for AMELX:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for AMELX Gene

ENSEMBL:
Gene Tree for AMELX (if available)
TreeFam:
Gene Tree for AMELX (if available)

Paralogs for AMELX Gene

Paralogs for AMELX Gene

(1) SIMAP similar genes for AMELX Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with AMELX: view

Variants for AMELX Gene

Sequence variations from dbSNP and Humsavar for AMELX Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
VAR_037581 Amelogenesis imperfecta 1E (AI1E)
VAR_037582 Amelogenesis imperfecta 1E (AI1E)
VAR_037583 Amelogenesis imperfecta 1E (AI1E)

Structural Variations from Database of Genomic Variants (DGV) for AMELX Gene

Variant ID Type Subtype PubMed ID
esv2739963 CNV Deletion 23290073

Variation tolerance for AMELX Gene

Residual Variation Intolerance Score: 28.11% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.72; 46.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AMELX Gene

HapMap Linkage Disequilibrium report
AMELX
Human Gene Mutation Database (HGMD)
AMELX

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMELX Gene

Disorders for AMELX Gene

MalaCards: The human disease database

(11) MalaCards diseases for AMELX Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
amelogenesis imperfecta, type 1e
  • amelogenesis imperfecta hypoplastic/hypomaturation x-linked 1
dental abscess
amelogenesis imperfecta hypomaturation type
  • aih
nance-horan syndrome
  • cataract dental syndrome
dental enamel hypoplasia
  • enamel hypoplasia
- elite association
Search AMELX in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AMELX_HUMAN
  • Amelogenesis imperfecta 1E (AI1E) [MIM:301200]: 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. {ECO:0000269 PubMed:10669095, ECO:0000269 PubMed:15111628, ECO:0000269 PubMed:7599636, ECO:0000269 PubMed:7782077, ECO:0000269 PubMed:9188994}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AMELX

Genetic Association Database (GAD)
AMELX
Human Genome Epidemiology (HuGE) Navigator
AMELX
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AMELX
genes like me logo Genes that share disorders with AMELX: view

No data available for Genatlas for AMELX Gene

Publications for AMELX Gene

  1. The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes. (PMID: 1734713) Salido E.C. … Shapiro L.J. (Am. J. Hum. Genet. 1992) 2 23 67
  2. Distinct breakpoints in two cases with deletion in the Yp11.2 region in Japanese population. (PMID: 20127364) Kumagai R. … Dewa K. (Hum. Genet. 2010) 23 67
  3. A mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfecta. (PMID: 20067920) Barron M.J. … Dixon M.J. (Hum. Mol. Genet. 2010) 23 67
  4. Amelogenin-based sex identification as a strategy to control the identity of DNA samples in genetic association studies. (PMID: 20235797) Tzvetkov M.V. … BrockmAPller J. (Pharmacogenomics 2010) 23 67
  5. Human and mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4. (PMID: 18714142) Wright J.T. … Gibson C.W. (Cells Tissues Organs (Print) 2009) 23 67

Products for AMELX Gene

Sources for AMELX Gene

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