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

    Gene ID: 265, updated on 9-Dec-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
    mouse all
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    Genomic context

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    See AMELX in Genome Data Viewer
    Location:
    Xp22.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (11293413..11309588)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (10875912..10892087)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (11311533..11318881)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29410 Neighboring gene holocytochrome c synthase Neighboring gene Rho GTPase activating protein 6 Neighboring gene Sharpr-MPRA regulatory region 12683 Neighboring gene FAM9C pseudogene 1 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. Possible association of amelogenin to high caries experience in a Guatemalan-Mayan population. Deeley K, et al. Caries Res, 2008. PMID 18042988, Free PMC Article
    2. Allelic frequency distributions of 21 non-combined DNA index system STR loci in a Russian ethnic minority group from Inner Mongolia, China. Wang HD, et al. J Zhejiang Univ Sci B, 2013 Jun. PMID 23733431, Free PMC Article
    3. Common SNPs of AmelogeninX (AMELX) and dental caries susceptibility. Gasse B, et al. J Dent Res, 2013 May. PMID 23525533
    4. Human amelogenin up-regulates osteogenic gene expression in human bone marrow stroma cells. Jingchao H, et al. Biochem Biophys Res Commun, 2011 May 13. PMID 21514271
    5. Association between AMELX polymorphisms and dental caries in Koreans. Kang SW, et al. Oral Dis, 2011 May. PMID 21114591

    See all (68) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. AMELX Mutations and Genotype-Phenotype Correlation in X-Linked Amelogenesis Imperfecta.
      Title: AMELX Mutations and Genotype-Phenotype Correlation in X-Linked Amelogenesis Imperfecta.
    2. AMELX gene association to early childhood caries in south-Indian children: a case-control study.
      Title: AMELX gene association to early childhood caries in south-Indian children: a case-control study.
    3. 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.
    4. Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.
      Title: Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. High AMEL expression is associated with Aggressiveness in Odontogenic Tumors.
      Title: Amelogenin is a Potential Biomarker for the Aggressiveness in Odontogenic Tumors.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (48)

    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)

    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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    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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