AMELX Gene (Protein Coding)

Amelogenin X-Linked

GC0XP011293
GIFtS:
37
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] See more...

Aliases for AMELX Gene

Aliases for AMELX Gene

  • Amelogenin X-Linked 2 3 5
  • Amelogenin (X Chromosome, Amelogenesis Imperfecta 1) 2 3
  • Amelogenin, X Isoform 3 4
  • AMGX 3 4
  • AMG 3 4
  • Amelogenin (Amelogenesis Imperfecta 1, X-Linked) 3
  • Amelogenesis Imperfecta 1 2
  • AI1E 3
  • ALGN 3
  • AMGL 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 Ie and Amelogenesis Imperfecta. Gene Ontology (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 Summary 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

Additional gene information for AMELX Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AMELX Gene

Genomics for AMELX Gene

GeneHancer (GH) Regulatory Elements for AMELX Gene

Promoters and enhancers for AMELX Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH0XJ011293 Promoter 0.3 EPDnew 750.6 +0.8 816 0.1 AMELX piR-51137-127 ARHGAP6
GH0XJ011265 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 12.4 -26.3 -26345 1.6 SMARCE1 CC2D1A GTF2F1 MLLT1 SMARCA4 CDC5L MTA1 GMEB1 IKZF1 ARID2 ARHGAP6 AMELX HSALNG0136644
GH0XJ011442 Enhancer 0.2 FANTOM5 1.7 +149.8 149772 0.1 AMELX HSALNG0136647 HSALNG0136649 ARHGAP6
GH0XJ011269 Enhancer 0.6 Ensembl 0.3 -23.4 -23377 0.8 DACH1 TEAD4 SMARCA4 TRIM24 IKZF1 PKNOX1 HDAC1 ZNF316 FOSL1 DPF2 HSALNG0136644 AMELX ARHGAP6
GH0XJ011254 Enhancer 0.7 Ensembl 0.3 -38.0 -37975 0.6 ZBTB40 SMARCE1 L3MBTL2 TEAD4 ZKSCAN8 CBFA2T2 SMARCA4 GMEB1 IKZF1 PKNOX1 HSALNG0136644 AMELX ARHGAP6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AMELX on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AMELX gene promoter:
  • CREB
  • deltaCREB
  • SRY

Genomic Locations for AMELX Gene

Genomic Locations for AMELX Gene
chrX:11,292,578-11,300,761
(GRCh38/hg38)
Size:
8,184 bases
Orientation:
Plus strand
chrX:11,311,533-11,318,881
(GRCh37/hg19)
Size:
7,349 bases
Orientation:
Plus strand

Genomic View for AMELX Gene

Genes around AMELX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AMELX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AMELX Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for AMELX Gene

Proteins for AMELX Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Post-translational modifications for AMELX Gene

Other Protein References for AMELX Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AMELX Gene

Domains & Families for AMELX Gene

Gene Families for AMELX Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for AMELX Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AMELX Gene

GenScript: Design optimal peptide antigens:
  • Amelogenin, X isoform (AMELX_HUMAN)
  • Amelogenin (B2BY28_HUMAN)

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

Function for AMELX Gene

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  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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  6. Cell Line

Molecular function for AMELX Gene

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.
GENATLAS Biochemistry:
amelogenin,extracellular matrix protein of the dental enamel,X linked

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

Human Phenotype Ontology for AMELX Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for AMELX Gene

miRTarBase miRNAs that target AMELX

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMELX

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AMELX gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
golgi apparatus 3
mitochondrion 2
lysosome 2
plasma membrane 1
cytoskeleton 1
nucleus 1
endosome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for AMELX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005794 Golgi apparatus IEA --
GO:0009986 cell surface ISS 1734713
genes like me logo Genes that share ontologies with AMELX: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AMELX Gene

Pathways & Interactions for AMELX Gene

PathCards logo

SuperPathways for AMELX Gene

No Data Available

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

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  1. Drug
No Compound Related Data Available

Transcripts for AMELX Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for AMELX Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMELX

Clone 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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AMELX Gene

mRNA expression in normal human tissues for AMELX Gene
mRNA expression by GTEx for AMELX GenemRNA expression by BioGPS for AMELX Gene

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).

NURSA nuclear receptor signaling pathways regulating expression of AMELX Gene:

AMELX

SOURCE GeneReport for Unigene cluster for AMELX Gene:

Hs.654436

Phenotype-based relationships between genes and organs from Gene ORGANizer for AMELX Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • skeleton
Regions:
Head and neck:
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
genes like me logo Genes that share expression patterns with AMELX: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES 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
chimpanzee
(Pan troglodytes)
 Mammalia AMELX 33
  • 100 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia AMELX 33 32
  • 93.72 (n)
 OneToMany
rat
(Rattus norvegicus)
 Mammalia Amelx 32
  • 92.73 (n)
cow
(Bos Taurus)
 Mammalia AMELX 33 32
  • 91.62 (n)
 ManyToMany
AMGY 33
  • 86 (a)
 ManyToMany
platypus
(Ornithorhynchus anatinus)
 Mammalia AMEL 33
  • 79 (a)
 OneToMany
mouse
(Mus musculus)
 Mammalia Amelx 33
  • 75 (a)
 OneToMany
oppossum
(Monodelphis domestica)
 Mammalia AMELX 33
  • 67 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 33
  • 47 (a)
 OneToMany
Species where no ortholog for AMELX was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AMELX: view image

Paralogs for AMELX Gene

Paralogs for AMELX Gene

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

  • AMELX_HUMAN
  • B2BY28_HUMAN
genes like me logo Genes that share paralogs with AMELX: view

Variants for AMELX Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for AMELX Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs104894733 pathogenic, Amelogenesis imperfecta, type 1E, Amelogenesis imperfecta 1E (AI1E) [MIM:301200] 11,298,243(+) C/A/T coding_sequence_variant, missense_variant
rs104894734 pathogenic, Amelogenesis imperfecta, type 1E 11,298,932(+) G/A/T coding_sequence_variant, missense_variant, stop_gained
rs104894736 pathogenic, Amelogenesis imperfecta, type 1E, Amelogenesis imperfecta 1E (AI1E) [MIM:301200] 11,298,569(+) C/A coding_sequence_variant, missense_variant
rs104894737 pathogenic, Amelogenesis imperfecta, type 1E 11,294,790(+) T/C initiator_codon_variant, missense_variant
rs104894738 pathogenic, Amelogenesis imperfecta, type 1E, Amelogenesis imperfecta 1E (AI1E) [MIM:301200] 11,294,799(+) G/C coding_sequence_variant, missense_variant

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: 28.1% 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)

Additional Variant Information for AMELX Gene

Human Gene Mutation Database (HGMD)
AMELX
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AMELX

SNP Genotyping and Copy Number Assay Products

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

Disorders for AMELX Gene

MalaCards: The human disease database

(18) MalaCards diseases for AMELX Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
amelogenesis imperfecta, type ie
  • ai1e
amelogenesis imperfecta
  • ai
amelogenesis imperfecta hypomaturation type
  • aih
amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2
  • amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 1
pineal region meningioma
  • pineal meningioma
- elite association - COSMIC cancer census association via MalaCards
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.

Additional Disease Information for AMELX

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 EC … Shapiro LJ (American journal of human genetics 1992) 2 3 4 23 56
  2. Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta. (PMID: 15111628) Kim JW … Hu JC (Journal of dental research 2004) 3 4 23 56
  3. A nomenclature for X-linked amelogenesis imperfecta. (PMID: 11922868) Hart PS … Wright JT (Archives of oral biology 2002) 3 4 23 56
  4. Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta. (PMID: 7782077) Lagerström-Fermér M … Landegren U (Genomics 1995) 3 4 23 56
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 43 56

ExternalLinks

View latest publications for AMELX gene in Mastermind

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