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Aliases for ENAM Gene

Aliases for ENAM Gene

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

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 Ib and Amelogenesis Imperfecta, Type Ic.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENAM Gene

Genomics for ENAM Gene

Regulatory Elements for ENAM Gene

Enhancers for ENAM Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F070676 1.4 FANTOM5 Ensembl ENCODE 10.8 +49.2 49224 2.3 PKNOX1 TBL1XR1 BMI1 RELA CBX5 EED ETV6 CREM MTA2 CBFB ENAM JCHAIN DCK LOC101927297
GH04F070613 0.2 Ensembl 0.4 -14.8 -14844 1.0 OSR2 ZNF316 MAFG PRDM10 EMSY MAFK TRIM28 JCHAIN UTP3 ENAM AMBN
GH04F070601 0.6 ENCODE 0.3 -27.1 -27126 0.2 ELF3 CTCF ZNF654 RNF2 TAL1 TRIM22 BMI1 EBF1 REST RAD21 AMBN ENAM
GH04F070652 0.4 Ensembl 0.3 +23.5 23514 0.5 CTCF ZNF654 SMC3 TRIM22 REST RAD21 JCHAIN UTP3 ENAM LOC101927297
GH04F070667 0.6 Ensembl 0.3 +39.3 39257 0.4 HLF MLLT1 PRDM1 LOC101927297 ENAM
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ENAM on UCSC Golden Path with GeneCards custom track

Genomic Location for ENAM Gene

Chromosome:
4
Start:
70,628,744 bp from pter
End:
70,686,816 bp from pter
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 StructureGene Density

RefSeq DNA sequence for ENAM Gene

Proteins for ENAM Gene

  • 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

Post-translational modifications for ENAM Gene

  • Phosphorylated by FAM20C in vitro.
  • Glycosylation at Asn 114, Asn 126, Asn 245, Asn 252, Asn 265, Asn 296, Asn 467, Asn 534, Asn 934, and Asn 1040
  • 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

Protein Domains for ENAM Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ENAM Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ENAM: view

No data available for Gene Families and UniProtKB/Swiss-Prot for ENAM Gene

Function for ENAM Gene

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.

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 IEA --
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:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
Jensen Localization Image for ENAM Gene COMPARTMENTS Subcellular localization image for ENAM gene
Compartment Confidence
extracellular 4
cytosol 1
endoplasmic reticulum 1
lysosome 1
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ENAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IEA --
genes like me logo Genes that share ontologies with ENAM: view

Pathways & Interactions for ENAM Gene

SuperPathways for ENAM Gene

No Data Available

Interacting Proteins for ENAM Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000379383%0d%0a9606.ENSP00000393887%0d%0a
Selected Interacting proteins: ENSP00000379383 Q9NRM1-ENAM_HUMAN for ENAM Gene via STRING UniProtKB IID

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 IEA --
GO:0042475 odontogenesis of dentin-containing tooth IEA --
GO:0070175 positive regulation of enamel mineralization IEA --
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

(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

mRNA/cDNA for ENAM Gene

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(12) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ENAM Gene

Enamelin:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for ENAM Gene

GeneLoc Exon Structure for
ENAM
ECgene alternative splicing isoforms for
ENAM

Expression for ENAM Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for ENAM Gene



Protein tissue co-expression partners for ENAM Gene

NURSA nuclear receptor signaling pathways regulating expression of ENAM Gene:

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.
genes like me logo Genes that share expression patterns with ENAM: view

Primer Products

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 34 35
  • 99.24 (n)
dog
(Canis familiaris)
Mammalia ENAM 34 35
  • 85.26 (n)
cow
(Bos Taurus)
Mammalia ENAM 34 35
  • 83.11 (n)
mouse
(Mus musculus)
Mammalia Enam 34 16 35
  • 76.68 (n)
rat
(Rattus norvegicus)
Mammalia Enam 34
  • 76.1 (n)
oppossum
(Monodelphis domestica)
Mammalia ENAM 35
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ENAM 35
  • 40 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ENAM 35
  • 29 (a)
OneToOne
Species where no ortholog for ENAM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for ENAM Gene

No data available for Paralogs for ENAM Gene

Variants for ENAM Gene

Sequence variations from dbSNP and Humsavar for ENAM Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs867263935 Amelogenesis imperfecta 1C (AI1C) [MIM:204650], Amelogenesis imperfecta 1B (AI1B) [MIM:104500] 70,642,073(+) TTATT(C/T)AGAAG reference, missense
rs121908109 Pathogenic 70,631,882(+) GCAGT(A/T)AAAGT reference, stop-gained
rs587776587 Pathogenic 70,635,895(+) CACAG(A/G)TGAGA splice-donor-variant
rs587776588 Pathogenic 70,642,685(+) CCACT(-/AG)GGGTC reference, frameshift-variant
rs3796704 Benign 70,643,714(+) TTCAC(A/G)GAATT reference, missense

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)

Relevant External Links for ENAM Gene

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

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

Disorders for ENAM Gene

MalaCards: The human disease database

(14) MalaCards diseases for ENAM Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
amelogenesis imperfecta, type ib
  • amelogenesis imperfecta type 1b
amelogenesis imperfecta, type ic
  • amelogenesis imperfecta type 1c
hypoplastic amelogenesis imperfecta
  • amelogenesis imperfecta type 1
amelogenesis imperfecta
  • aortic valve insufficiency
teeth hard tissue disease
- 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ENAM

Genetic Association Database (GAD)
ENAM
Human Genome Epidemiology (HuGE) Navigator
ENAM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ENAM
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) Mardh C.K. … Forsman-Semb K. (Hum. Mol. Genet. 2002) 2 3 4 22 64
  2. Dietary change and adaptive evolution of enamelin in humans and among primates. (PMID: 18245370) Kelley J.L. … Swanson W.J. (Genetics 2008) 3 4 22 64
  3. Enamel formation genes are associated with high caries experience in Turkish children. (PMID: 18781068) Patir A. … Vieira A.R. (Caries Res. 2008) 3 22 46 64
  4. Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. (PMID: 14684688) Hart T.C. … Firatli E. (J. Med. Genet. 2003) 3 4 22 64
  5. Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. (PMID: 11487571) Rajpar M.H. … Dixon M.J. (Hum. Mol. Genet. 2001) 3 4 22 64

Products for ENAM Gene

Sources for ENAM Gene

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