Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ENAM Gene

Aliases for ENAM Gene

  • Enamelin 2 3
  • Amelogenesis Imperfecta 2, Hypocalcification (Autosomal Dominant) 2 3
  • AI1C 3 6
  • AIH2 3 6
  • ADAI 3

External Ids for ENAM Gene

Previous Symbols for ENAM Gene

  • AIH2

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. GO annotations related to this gene include structural constituent of tooth enamel.

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

Genomic Location for ENAM Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ENAM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ENAM Gene

Regulatory Elements 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

Proteomics data for ENAM Gene at MOPED

Post-translational modifications for ENAM Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn114, Asn126, Asn245, Asn252, Asn265, Asn296, Asn467, Asn534, Asn934, and Asn1040

Other Protein References for ENAM Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ENAM Gene

Domains for ENAM Gene

Protein Domains for ENAM Gene

InterPro:
ProtoNet:
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

Phenotypes for ENAM Gene

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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targeting 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 5
cytoskeleton 1
cytosol 1
endoplasmic reticulum 1
lysosome 1
nucleus 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 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 for ENAM Gene via STRING

Symbol External ID(s) Details
AHSG

Gene Ontology (GO) - Biological Process for ENAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031214 biomineral tissue development IEA --
GO:0042475 odontogenesis of dentin-containing tooth --
GO:0097186 amelogenesis IEA --
genes like me logo Genes that share ontologies with ENAM: view

No data available for Pathways by source for ENAM Gene

Compounds for ENAM Gene

(2) Novoseek inferred chemical compound relationships for ENAM Gene

Compound -log(P) Hits PubMed IDs
hydroxyapatite 53.5 2
calcium 0 4
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:

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 (9.9), Heart - Left Ventricle (9.0), Muscle - Skeletal (7.4), Heart - Atrial Appendage (6.0), and Pancreas (4.4).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for ENAM Gene

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 expressions 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 36
  • 99.24 (n)
  • 98.6 (a)
ENAM 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ENAM 36
  • 83.11 (n)
  • 72.86 (a)
ENAM 37
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ENAM 36
  • 85.26 (n)
  • 78.25 (a)
ENAM 37
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Enam 36
  • 76.68 (n)
  • 63.39 (a)
Enam 16
Enam 37
  • 55 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ENAM 37
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ENAM 37
  • 40 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Enam 36
  • 76.1 (n)
  • 63.48 (a)
lizard
(Anolis carolinensis)
Reptilia ENAM 37
  • 29 (a)
OneToOne
Species with no ortholog for ENAM:
  • 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 MAF
rs966961 -- 70,639,832(+) tgcag(G/T)gaacc intron-variant
rs1055660 -- 70,646,654(+) agcgt(C/T)agaag utr-variant-3-prime
rs1967376 -- 70,636,027(+) ACCAG(C/T)GCATC intron-variant
rs1993579 -- 70,628,902(-) GCTTG(C/T)CTTTG utr-variant-5-prime, upstream-variant-2KB
rs1993580 -- 70,628,649(-) TTTTG(C/T)CATCA upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv829965 CNV Gain 17160897

Relevant External Links for ENAM Gene

HapMap Linkage Disequilibrium report
ENAM
Human Gene Mutation Database (HGMD)
ENAM

Disorders for ENAM Gene

(2) OMIM Diseases for ENAM Gene (606585)

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}. 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(8) Novoseek inferred disease relationships for ENAM Gene

Disease -log(P) Hits PubMed IDs
amelogenesis imperfecta 97.7 20
odontogenic cyst calcifying 76.2 2
odontogenic tumors 67.5 4
open bite 50.6 1
hypoplasia 47 1

Relevant External Links for ENAM

Genetic Association Database (GAD)
ENAM
Human Genome Epidemiology (HuGE) Navigator
ENAM
genes like me logo Genes that share disorders with ENAM: view

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 23
  2. Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus. (PMID: 11037750) Dong J. … MacDougall M. (Eur. J. Oral Sci. 2000) 3 4 23
  3. 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 23
  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 23
  5. Dietary change and adaptive evolution of enamelin in humans and among primates. (PMID: 18245370) Kelley J.L. … Swanson W.J. (Genetics 2008) 3 4 23

Products for ENAM Gene

Sources for ENAM Gene

Back to Top

Content