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

Gene Tree: Enam

Human homologs

Human Homolog		ENAM, enamelin
NCBI Gene ID		10117
neXtProt AC		NX_Q9NRM1
Human Synonyms		ADAI, AI1C, AIH2
Human Chr (Location)		4q13.3; chr4:71494461-71512536 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human ENAM

Alleles and phenotypes

All alleles(6) : Targeted(2) Chemically induced(4)
 

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 Using Mouse Enam (1)    Alleles Annotated to Human Diseases(3)    Phenotype Images(4)

Gene Ontology (GO) classifications

All GO classifications: (7 annotations)

Process	amelogenesis, biomineral tissue development, ...
Component	extracellular region, proteinaceous extracellular matrix
Function	molecular_function

External Resources: FuncBase

Expression

Literature Summary: (10 records)
Data Summary: Results (28)    Tissues (5)   
Theiler Stages: 25, 26, 28

Assay Type	Results
Western blot	4
RT-PCR	24

cDNA source data(7)
External Resources: Allen Institute   GEO   ArrayExpress

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	TC1590830, TC1716335, TC1729953
DoTS	DT.101228182, DT.55203120, DT.91296658
NIA Mouse Gene Index	U005755, U305131
Consensus CDS Project	CCDS19400.1
International Mouse Knockout Project Status	Enam

Sequences

Length	Strain/Species
genomic	ENSMUSG00000029286	Ensembl Gene Model | MGI Sequence Detail	18068	C57BL/6J
transcript	ENSMUST00000031222	Ensembl | MGI Sequence Detail	5483	Not Applicable
polypeptide	ENSMUSP00000031222	Ensembl | MGI Sequence Detail	1274	Not Applicable

All sequences(21) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(76 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:188148 Landin MA, et al., Gene Expression Profiling during Murine Tooth Development. Front Genet. 2012;3:139
All references(41)

Other accession IDs

MGI:3512770