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Enam
Gene Detail
Symbol

Name
ID
Enam
enamelin
MGI:1333772
Synonyms
abte
Feature Type
protein coding gene
Genetic Map
Chromosome 5
43.66 cM, cytoband E2
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr5:88487982-88506049 bp, + strand
From Ensembl annotation of GRCm38

  18068 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:9698  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog

HCOP human homology predictions: ENAM
Gene Tree: Enam

Human
homologs
ENAM, enamelin
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 10117
neXtProt AC: NX_Q9NRM1

Human Synonyms: ADAI, AI1C, AIH2

Human Chr (Location): 4q13.3; chr4:70628744-70646819 (+)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human ENAM

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Chemically induced (ENU)(4) Targeted(2)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygous null mice lack true enamel due to loss of mineralization at the secretory surface of ameloblasts and mandibular incisors are opaque with a rough surface and abnormal wear on the incisal edge. ENU-induced mutant mice provide models for various clinical subtypes of amelogenesis imperfecta.
 
Human Diseases Modeled in Mice Using Enam (1)    Mutations Annotated to Human Diseases (3)    Phenotype Images(4)
Interactions
Enam interacts with 235 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (8 annotations)
Process amelogenesis, biomineral tissue development, ...
Component extracellular region, proteinaceous extracellular matrix
Function molecular_function
External Resources: FuncBase
Expression
Literature Summary: (11 records)
Data Summary: Results (31)    Tissues (8)    Images (3)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 3
Western blot 4
RT-PCR 24
cDNA source data(7)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase enam    NEW 
Molecular
reagents
All nucleic(9) cDNA(7) Primer pair(2)
Microarray probesets(4)
Other database
links
Ensembl Gene Model ENSMUSG00000029286 (Evidence)
Entrez Gene 13801 (Evidence)
UniGene 8014
DFCI TC1716335, TC1590830, TC1729953
DoTS DT.91296658, DT.55203120, DT.101228182
NIA Mouse Gene Index U305131, U005755
Consensus CDS Project CCDS19400.1
International Mouse Phenotyping Consortium Status Enam
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000029286 Ensembl Gene Model | MGI Sequence Detail 18068 C57BL/6J ±  kb
transcript ENSMUST00000031222 Ensembl | MGI Sequence Detail 5483 Not Applicable 
polypeptide ENSMUSP00000031222 Ensembl | MGI Sequence Detail 1274 Not Applicable 

For the selected sequences
All sequences(23) RefSeq(4) UniProt(2)
Polymorphisms
SNPs within 2kb(105 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR015673 Enamelin
Protein Ontology PR:000007073 enamelin
References
(Earliest) J:51776 Hu CC, et al., Murine enamelin: cDNA and derived protein sequences. Connect Tissue Res. 1998;39(1-3):47-61; discussion 63-7
(Latest) J:203117 Li X, et al., A model for the molecular underpinnings of tooth defects in Axenfeld-Rieger syndrome. Hum Mol Genet. 2014 Jan 1;23(1):194-208
All references(42)
Disease annotation references (1)
Other
accession IDs
MGI:3512770

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/30/2015
MGI 5.22
The Jackson Laboratory