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AMELX amelogenin X-linked [ Homo sapiens (human) ]

Gene ID: 265, updated on 23-Mar-2024

Summary

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Official Symbol
AMELXprovided by HGNC
Official Full Name
amelogenin X-linkedprovided by HGNC
Primary source
HGNC:HGNC:461
See related
Ensembl:ENSG00000125363 MIM:300391; AllianceGenome:HGNC:461
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AMG; AI1E; AIH1; ALGN; AMGL; AMGX
Summary
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]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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Location:
Xp22.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (11293413..11309588)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (10875912..10892087)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (11311533..11318881)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene HCCS divergent transcript Neighboring gene uncharacterized LOC124905243 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:11025249-11025760 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29409 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29410 Neighboring gene Rho GTPase activating protein 6 Neighboring gene holocytochrome c synthase Neighboring gene Sharpr-MPRA regulatory region 12683 Neighboring gene NANOG hESC enhancer GRCh37_chrX:11323088-11323736 Neighboring gene microRNA 548ax Neighboring gene GOT2 pseudogene 7

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. An Intron c.103-3T>C Variant of the AMELX Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: Case Series and Review of the Literature. Leban T, et al. Genes (Basel), 2022 Jul 18. PMID 35886055, Free PMC Article
  2. A Novel AMELX Mutation, Its Phenotypic Features, and Skewed X Inactivation. Duan X, et al. J Dent Res, 2019 Jul. PMID 31185186
  3. Amelogenin is a Potential Biomarker for the Aggressiveness in Odontogenic Tumors. Zakaraia S, et al. Asian Pac J Cancer Prev, 2018 May 26. PMID 29802703, Free PMC Article
  4. Cloning and Expression Analysis of Human Amelogenin in Nicotiana benthamiana Plants by Means of a Transient Expression System. Pegoraro M, et al. Mol Biotechnol, 2017 Oct. PMID 28801830
  5. Full-length amelogenin influences the differentiation of human dental pulp stem cells. Frasheri I, et al. Stem Cell Res Ther, 2016 Jan 13. PMID 26762641, Free PMC Article

See all (63) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mutations Causing X-Linked Amelogenesis Imperfecta Alter miRNA Formation from Amelogenin Exon4.
    Title: Mutations Causing X-Linked Amelogenesis Imperfecta Alter miRNA Formation from Amelogenin Exon4.
  2. Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.
    Title: Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.
  3. TRAP was found to augment chondrogenic differentiation of HACs via induction of SOX9 gene expression when cells were cultured in pro-chondrogenic media.
    Title: Differential effects of tyrosine-rich amelogenin peptide on chondrogenic and osteogenic differentiation of adult chondrocytes.
  4. An Intron c.103-3T>C Variant of the AMELX Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: Case Series and Review of the Literature.
    Title: An Intron c.103-3T>C Variant of the AMELX Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: Case Series and Review of the Literature.
  5. family study of a novel AMELX mutation with skewed X chromosome inactivation causing hypoplastic and hypomineralized amelogenesis imperfecta
    Title: A Novel AMELX Mutation, Its Phenotypic Features, and Skewed X Inactivation.
  6. AMELX and ODAM variations was not different between two populations of schoolchildren with respect to dental fluorosis (DF) severity; however, the presence of rs1784418 differed between phenotypes with regard to susceptibility to DF. Therefore, MMP20 might be related to the various phenotypes of DF
    Title: DNA sequencing reveals AMELX, ODAM and MMP20 variations in dental fluorosis.
  7. High AMEL expression is associated with Aggressiveness in Odontogenic Tumors.
    Title: Amelogenin is a Potential Biomarker for the Aggressiveness in Odontogenic Tumors.
  8. Single nucleotide polymorphisms in the AMELX and AMBN genes may be genetic variants that contribute to developmental defects of enamel in primary dentition of Polish children.
    Title: Significance of genetic variations in developmental enamel defects of primary dentition in Polish children.
  9. To the best of our knowledge, this is the first report of expression of human amelogenin in plants, offering the possibility to use this plant-made protein for nanotechnological applications.
    Title: Cloning and Expression Analysis of Human Amelogenin in Nicotiana benthamiana Plants by Means of a Transient Expression System.
  10. The calcium level was associated with genetic variations in AMELX, AMNB and ESRRB. AMELX and AMNB are involved in enamel mineralization. Mutations in both these genes are responsible for the amelogenesis imperfecta phenotype (OMIN), which supports their link with enamel alterations as well as enamel mineralization.
    Title: Genes Involved in the Enamel Development Are Associated with Calcium and Phosphorus Level in Saliva.
Submit: New GeneRIF Correction See all GeneRIFs (46)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Amelogenesis imperfecta type 1E
MedGen: C1845053 OMIM: 301200 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables growth factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
enables hydroxyapatite binding ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
enables identical protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables structural constituent of tooth enamel IBA
Inferred from Biological aspect of Ancestor
more info
  
enables structural constituent of tooth enamel IDA
Inferred from Direct Assay
more info
 PubMed 
enables structural constituent of tooth enamel IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in amelogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in biomineral tissue development TAS
Traceable Author Statement
more info
 PubMed 
involved_in cell adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in chondrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in enamel mineralization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in enamel mineralization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in enamel mineralization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in odontogenesis of dentin-containing tooth ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in osteoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in positive regulation of collagen biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in positive regulation of tooth mineralization TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of cell population proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in response to calcium ion IEA
Inferred from Electronic Annotation
more info
  
involved_in response to nutrient IEA
Inferred from Electronic Annotation
more info
  
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
involved_in tooth mineralization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in tooth mineralization ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
Component Evidence Code Pubs
located_in cell surface ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
is_active_in collagen-containing extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in collagen-containing extracellular matrix IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endocytic vesicle IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
  
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
amelogenin, X isoform
Names
amelogenin (X chromosome, amelogenesis imperfecta 1)
amelogenin (amelogenesis imperfecta 1, X-linked)

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012040.2 RefSeqGene

    Range
    5002..12350
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001142.2 → NP_001133.1  amelogenin, X isoform isoform 1 precursor

    See identical proteins and their annotated locations for NP_001133.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an in-frame exon in the coding region, compared to variant 3. Isoform 1 is shorter than isoform 3 and is the most abundant isoform of this protein.
    Source sequence(s)
    M86932
    Consensus CDS
    CCDS14144.1
    UniProtKB/Swiss-Prot
    Q96NW6, Q99217, Q9UCA7
    Related
    ENSP00000370090.3, ENST00000380714.7
    Conserved Domains (1) summary
    smart00818
    Location:28 → 191
    Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth

  2. NM_182680.1 → NP_872621.1  amelogenin, X isoform isoform 3

    See identical proteins and their annotated locations for NP_872621.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes the longest isoform (3).
    Source sequence(s)
    AF436849
    Consensus CDS
    CCDS14145.1
    UniProtKB/Swiss-Prot
    Q99217
    Related
    ENSP00000370088.3, ENST00000380712.7
    Conserved Domains (1) summary
    smart00818
    Location:28 → 205
    Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth

  3. NM_182681.1 → NP_872622.1  amelogenin, X isoform isoform 2

    See identical proteins and their annotated locations for NP_872622.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two in-frame exons in the coding region, compared to variant 3. Isoform 2 is shorter than isoform 3.
    Source sequence(s)
    AC002366
    Consensus CDS
    CCDS14146.1
    UniProtKB/Swiss-Prot
    Q99217
    Related
    ENSP00000335312.5, ENST00000348912.4
    Conserved Domains (1) summary
    smart00818
    Location:15 → 175
    Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    11293413..11309588
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029404.3 → XP_016884893.2  amelogenin, X isoform isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    10875912..10892087
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054326823.1 → XP_054182798.1  amelogenin, X isoform isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99217.1 GenPept UniProtKB/Swiss-Prot:Q99217

Gene LinkOut

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