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

Summary

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

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_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.
Title: Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.
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.
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.
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.
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.
High AMEL expression is associated with Aggressiveness in Odontogenic Tumors.
Title: Amelogenin is a Potential Biomarker for the Aggressiveness in Odontogenic Tumors.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:480782

Amel (e-PCR), detects polymorphism
- UniSTS:141073

GDB:677393 (e-PCR)
- UniSTS:99653

G42692 (e-PCR)
- UniSTS:140879

NoName (e-PCR)
- UniSTS:482139

RH46956 (e-PCR)
- UniSTS:9061

GDB:574117 (e-PCR)
- UniSTS:157803

GDB:574121 (e-PCR)
- UniSTS:157804

GDB:574132 (e-PCR)
- UniSTS:157807

NoName (e-PCR)
- UniSTS:490353

GDB:574144 (e-PCR)
- UniSTS:157810

GDB:574146 (e-PCR)
- UniSTS:157811

RH79902 (e-PCR)
- UniSTS:86189

GDB:371402 (e-PCR)
- UniSTS:156848

AMELX (e-PCR)
- UniSTS:277964

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

NG_012040.2 RefSeqGene

Range

5002..12350

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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