ENAM enamelin [Homo sapiens (human)] - Gene

Summary

Official Symbol: ENAMprovided by HGNC
Official Full Name: enamelinprovided by HGNC
Primary source: HGNC:HGNC:3344
See related: Ensembl:ENSG00000132464 MIM:606585; AllianceGenome:HGNC:3344
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: ADAI; AI1C; AIH2
Summary: Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene encodes the largest protein in the enamel matrix of developing teeth. The protein is involved in the mineralization and structural organization of enamel. Defects in this gene result in amelogenesis imperfect type 1C.[provided by RefSeq, Oct 2009]
Expression: Biased expression in kidney (RPKM 2.0), heart (RPKM 1.3) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q13.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (70628744..70646824)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (73971213..73989293)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (71494461..71512541)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.
Title: Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.
A novel ENAM mutation causes hypoplastic amelogenesis imperfecta.
Title: A novel ENAM mutation causes hypoplastic amelogenesis imperfecta.
ENAM gene associated with T classification and inhibits proliferation in renal clear cell carcinoma.
Title: ENAM gene associated with T classification and inhibits proliferation in renal clear cell carcinoma.
ENAM Gene Variation in Students Exposed to Different Fluoride Concentrations.
Title: ENAM Gene Variation in Students Exposed to Different Fluoride Concentrations.
Two novel ENAM frameshift mutations were identified. A single-nucleotide duplication replaced amino acids 133-1142 with a 12 amino acid sequence, and a single-nucleotide deletion replaced amino acids 921-1142 with 31 amino acids (ESSPQQASYQAKETAQRRGKAKTLLEMMCPR*).
Title: ENAM mutations and digenic inheritance.
An ENAM nonsense mutation identified in a family with hypoplastic amelogenesis imperfecta resulted in a highly variable clinical phenotype in individuals with a heterozygous mutant allele.
Title: Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations.
Lack of association between the ENAM polymorphism (rs12640848) and dental caries in Czech children was detected.
Title: Lack of association between ENAM gene polymorphism and dental caries in primary and permanent teeth in Czech children.
The ENAM and TNF-alpha genes were likely associated with caries occurrence in Chinese children. The ENAM rs3796703 CT and TNF-alpha rs1800629 AG genotypes might be involved in caries susceptibility and protection, respectively.
Title: The association of Enamelin, Lactoferrin, and Tumour necrosis factor alpha gene polymorphisms with high caries susceptibility in Chinese children under 4 years old.
study investigated the phenotypic effect of SNP C14625T (rs7671281) on the thickness of human dental enamel, exploring the effects of positive selection on a dental gene
Title: Human enamel thickness and ENAM polymorphism.
Among the variants shared with modern humans, two are ancestral (common with apes) and one is the derived enamelin major variant, T648I (rs7671281), associated with a thinner enamel and specific to the Homo lineage.
Title: Neanderthal and Denisova tooth protein variants in present-day humans.

Submit: New GeneRIF Correction See all GeneRIFs (31)

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 - hypoplastic autosomal dominant - local MedGen: C0399368 OMIM: 104500 GeneReviews: Not available	Compare labs
Amelogenesis imperfecta type 1C MedGen: C2673923 OMIM: 204650 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

D4S395 (e-PCR), detects polymorphism
- UniSTS:61766

D4S392 (e-PCR), detects polymorphism
- UniSTS:67447

G16825 (e-PCR)
- UniSTS:1925

SHGC-50734 (e-PCR)
- UniSTS:1926

SHGC-83585 (e-PCR)
- UniSTS:95889

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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

Process	Evidence Code	Pubs
involved_in ameloblast differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in amelogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in biomineral tissue development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of enamel mineralization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: enamelin

Names: amelogenesis imperfecta 2, hypocalcification (autosomal dominant)

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.