ENAM Gene (Protein Coding)

Enamelin

GC04P070628
GIFtS:
39
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] See more...

Aliases for ENAM Gene

Aliases for ENAM Gene

  • Enamelin 2 3 4 5
  • Amelogenesis Imperfecta 2, Hypocalcification (Autosomal Dominant) 2 3
  • ADAI 3
  • AI1C 3
  • AIH2 3
  • ENAM 5

External Ids for ENAM Gene

Previous HGNC Symbols for ENAM Gene

  • AIH2

Previous GeneCards Identifiers for ENAM Gene

  • GC04P071451
  • GC04P071734
  • GC04P071895
  • GC04P071960
  • GC04P071859
  • GC04P071494
  • GC04P067298

Summaries for ENAM Gene

Entrez Gene Summary for ENAM Gene

  • 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]

GeneCards Summary for ENAM Gene

ENAM (Enamelin) is a Protein Coding gene. Diseases associated with ENAM include Amelogenesis Imperfecta, Type Ic and Amelogenesis Imperfecta, Type Ib.

UniProtKB/Swiss-Prot Summary for ENAM Gene

  • Involved in the mineralization and structural organization of enamel. Involved in the extension of enamel during the secretory stage of dental enamel formation.

Gene Wiki entry for ENAM Gene

Additional gene information for ENAM Gene

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

Genomics for ENAM Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ENAM 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
GH04J070677 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 10.8 +50.5 50530 3.6 STAT3 RELA TCF12 IKZF2 TRIM22 PKNOX1 EED ARID3A DPF2 RELB LOC101927297 ENAM JCHAIN DCK ENSG00000286848 HSALNG0035032
GH04J070680 Enhancer 0.7 Ensembl dbSUPER 10.8 +53.7 53710 2 TCF12 YY1 ARID3A RUNX3 BCOR TAL1 TBL1XR1 ATF2 KDM1A ATF7 JCHAIN ENAM LOC101927297 ENSG00000286848 HSALNG0035032
GH04J070631 Enhancer 0.5 Ensembl 0.7 +4.7 4730 1.2 JUND JUN FOS FOSL1 FOSL2 ATF3 MEIS2 JCHAIN UTP3 ENAM HSALNG0035032 ENSG00000286848
GH04J070667 Promoter/Enhancer 1 EPDnew Ensembl dbSUPER 0.3 +39.0 39030 1 POLR2A RELB RUNX3 TBP TBL1XR1 TBX21 NFATC1 JCHAIN LOC101927297 ENSG00000286848 HSALNG0035032 ENAM
GH04J070601 Enhancer 0.8 Ensembl ENCODE 0.3 -25.9 -25859 0.5 CTCF REST RAD21 TRIM22 RELA RNF2 SMC3 BMI1 GATA3 SPI1 AMBN ENAM
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ENAM on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ENAM

Top Transcription factor binding sites by QIAGEN in the ENAM gene promoter:
  • CUTL1
  • E47
  • Hand1
  • IRF-2
  • Pax-2a
  • USF-1
  • USF1

Genomic Locations for ENAM Gene

Genomic Locations for ENAM Gene
chr4:70,627,471-70,646,824
(GRCh38/hg38)
Size:
19,354 bases
Orientation:
Plus strand
chr4:71,494,461-71,552,533
(GRCh37/hg19)
Size:
58,073 bases
Orientation:
Plus strand

Genomic View for ENAM Gene

Genes around ENAM on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ENAM Gene

Proteins for ENAM Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for ENAM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRM1-ENAM_HUMAN
    Recommended name:
    Enamelin
    Protein Accession:
    Q9NRM1
    Secondary Accessions:
    • Q17RI5
    • Q9H3D1

    Protein attributes for ENAM Gene

    Size:
    1142 amino acids
    Molecular mass:
    128785 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ENAM Gene

Protein Expression for ENAM Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ENAM Gene

  • Phosphorylated by FAM20C in vitro.
  • Glycosylation at Asn114, Asn126, Asn245, Asn252, Asn265, Asn296, Asn467, Asn534, Asn934, and Asn1040
  • Modification sites at PhosphoSitePlus

Other Protein References for ENAM Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ENAM Gene

Domains & Families for ENAM Gene

Gene Families for ENAM Gene

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

Protein Domains for ENAM Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ENAM Gene

GenScript: Design optimal peptide antigens:
  • Enamelin (ENAM_HUMAN)
  • Enamelin (Q8IWP4_HUMAN)
genes like me logo Genes that share domains with ENAM: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ENAM Gene

Function for ENAM Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for ENAM Gene

UniProtKB/Swiss-Prot Function:
Involved in the mineralization and structural organization of enamel. Involved in the extension of enamel during the secretory stage of dental enamel formation.

Phenotypes From GWAS Catalog for ENAM Gene

Gene Ontology (GO) - Molecular Function for ENAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25789606
GO:0030345 structural constituent of tooth enamel IBA 21873635
genes like me logo Genes that share ontologies with ENAM: view
genes like me logo Genes that share phenotypes with ENAM: view

Human Phenotype Ontology for ENAM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ENAM Gene

MGI Knock Outs for ENAM:
  • Enam Enam<tm1.1Jcch>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ENAM Gene

Localization for ENAM Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENAM 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 ENAM gene
Compartment Confidence
extracellular 4
endoplasmic reticulum 4
plasma membrane 2
cytoskeleton 2
nucleus 2
mitochondrion 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ENAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0031012 extracellular matrix IEA,IBA 21873635
genes like me logo Genes that share ontologies with ENAM: view

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

Pathways & Interactions for ENAM Gene

PathCards logo

SuperPathways for ENAM Gene

No Data Available

Gene Ontology (GO) - Biological Process for ENAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0022604 regulation of cell morphogenesis IEA --
GO:0031214 biomineral tissue development IEA --
GO:0036305 ameloblast differentiation IBA 21873635
GO:0042475 odontogenesis of dentin-containing tooth IEA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with ENAM: view

No data available for Pathways by source and SIGNOR curated interactions for ENAM Gene

Drugs & Compounds for ENAM Gene

Products:

  1. Drug

(1) Drugs for ENAM Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for ENAM Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ENAM: view

Transcripts for ENAM Gene

Products:

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

mRNA/cDNA for ENAM Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 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 ENAM

Alternative Splicing Database (ASD) splice patterns (SP) for ENAM Gene

No ASD Table

Relevant External Links for ENAM Gene

GeneLoc Exon Structure for
ENAM

Expression for ENAM Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ENAM Gene

This gene is overexpressed in Kidney - Cortex (x9.9), Heart - Left Ventricle (x9.0), Muscle - Skeletal (x7.4), Heart - Atrial Appendage (x6.0), and Pancreas (x4.4).

Protein differential expression in normal tissues from HIPED for ENAM Gene

This gene is overexpressed in Peripheral blood mononuclear cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ENAM Gene



Protein tissue co-expression partners for ENAM Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ENAM

SOURCE GeneReport for Unigene cluster for ENAM Gene:

Hs.667018

mRNA Expression by UniProt/SwissProt for ENAM Gene:

Q9NRM1-ENAM_HUMAN
Tissue specificity: Expressed in tooth particularly in odontoblast, ameloblast and cementoblast.

Evidence on tissue expression from TISSUES for ENAM Gene

  • Bone(2)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ENAM 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 ENAM: view

Orthologs for ENAM Gene

This gene was present in the common ancestor of chordates.

Orthologs for ENAM Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ENAM 30 31
  • 99.24 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ENAM 30 31
  • 85.26 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ENAM 30 31
  • 83.11 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Enam 30 17 31
  • 76.68 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Enam 30
  • 76.1 (n)
Oppossum
(Monodelphis domestica)
 Mammalia ENAM 31
  • 50 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia ENAM 31
  • 40 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ENAM 31
  • 29 (a)
 OneToOne
Species where no ortholog for ENAM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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 ENAM Gene

ENSEMBL:
Gene Tree for ENAM (if available)
TreeFam:
Gene Tree for ENAM (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ENAM: view image

Paralogs for ENAM Gene

No data available for Paralogs for ENAM Gene

Variants for ENAM Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ENAM Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
709767 Conflicting Interpretations: Amelogenesis imperfecta; not provided 70,642,822(+) G/A MISSENSE_VARIANT
711122 Conflicting Interpretations: Amelogenesis imperfecta; not provided 70,642,607(+) A/T MISSENSE_VARIANT
716857 Benign/Likely Benign: Amelogenesis imperfecta; not provided 70,632,659(+) G/T SYNONYMOUS_VARIANT
723981 Likely Benign: not provided 70,642,815(+) G/A SYNONYMOUS_VARIANT
735510 Likely Benign: not provided 70,643,748(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ENAM Gene

Structural Variations from Database of Genomic Variants (DGV) for ENAM Gene

Variant ID Type Subtype PubMed ID
esv3423205 CNV duplication 20981092
nsv1012495 CNV gain 25217958
nsv829965 CNV gain 17160897

Variation tolerance for ENAM Gene

Residual Variation Intolerance Score: 46.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.88; 79.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ENAM Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ENAM Gene

MalaCards: The human disease database

(22) MalaCards diseases for ENAM Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ENAM in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ENAM_HUMAN
  • Amelogenesis imperfecta 1B (AI1B) [MIM:104500]: An autosomal dominant defect of enamel formation. Clinical manifestations may be variable. Some cases present with generalized enamel hypoplasia resulting in small, smooth, yellow and widely spaced teeth (smooth hypoplastic AI). Others show horizontal rows of pits, grooves or a hypoplastic area in the enamel (local hypoplastic AI). {ECO:0000269 PubMed:11487571, ECO:0000269 PubMed:11978766, ECO:0000269 PubMed:20439930, ECO:0000269 PubMed:25789606}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Amelogenesis imperfecta 1C (AI1C) [MIM:204650]: An autosomal recessive defect of dental enamel formation. Teeth show local hypoplastic and unmineralized enamel, and a yellow-brown discoloration. Enamel defects can be associated with facial and oral features including vertical dysgnathia and anterior openbite malocclusion. {ECO:0000269 PubMed:14684688, ECO:0000269 PubMed:20439930, ECO:0000269 PubMed:25789606}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ENAM

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ENAM: view

No data available for Genatlas for ENAM Gene

Publications for ENAM Gene

  1. A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2). (PMID: 11978766) Mårdh CK … Forsman-Semb K (Human molecular genetics 2002) 2 3 4 23
  2. Dietary change and adaptive evolution of enamelin in humans and among primates. (PMID: 18245370) Kelley JL … Swanson WJ (Genetics 2008) 3 4 23
  3. Enamel formation genes are associated with high caries experience in Turkish children. (PMID: 18781068) Patir A … Vieira AR (Caries research 2008) 3 23 41
  4. Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. (PMID: 14684688) Hart TC … Firatli E (Journal of medical genetics 2003) 3 4 23
  5. Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. (PMID: 11487571) Rajpar MH … Dixon MJ (Human molecular genetics 2001) 3 4 23

ExternalLinks

View latest publications for ENAM gene in Mastermind

Products for ENAM Gene

Sources for ENAM Gene