Enam (enamelin) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: Enam (enamelin) Mus musculus
Analyze
Symbol: Enam
Name: enamelin
RGD ID: 1315615
MGI Page MGI
Description: A structural constituent of tooth enamel. Acts upstream of or within several processes, including ameloblast differentiation; amelogenesis; and positive regulation of enamel mineralization. Located in extracellular matrix. Is expressed in jaw. Used to study amelogenesis imperfecta type 1B. Human ortholog(s) of this gene implicated in amelogenesis imperfecta type 1B and amelogenesis imperfecta type 1C. Orthologous to human ENAM (enamelin).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: abt; abte
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39588,635,834 - 88,653,908 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl588,635,834 - 88,653,908 (+)EnsemblGRCm39 Ensembl
GRCm38588,487,975 - 88,506,049 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl588,487,975 - 88,506,049 (+)EnsemblGRCm38mm10GRCm38
MGSCv37588,917,000 - 88,935,074 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36589,562,536 - 89,579,274 (+)NCBIMGSCv36mm8
Celera586,636,787 - 86,654,861 (+)NCBICelera
Cytogenetic Map5E1NCBI
cM Map543.66NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal ameloblast morphology  (IAGP)
abnormal compact bone morphology  (IAGP)
abnormal digestion  (IAGP)
abnormal enamel mineralization  (IAGP)
abnormal enamel morphology  (IAGP)
abnormal enamel organ morphology  (IAGP)
abnormal enamel rod pattern  (IAGP)
abnormal enzyme/coenzyme activity  (IAGP)
abnormal heart morphology  (IEA)
abnormal incisor color  (IAGP)
abnormal incisor morphology  (IAGP)
abnormal lower incisor color  (IAGP)
abnormal lower incisor morphology  (IAGP)
abnormal molar crown morphology  (IAGP)
abnormal molar cusp morphology  (IAGP)
abnormal molar morphology  (IAGP)
abnormal mouth morphology  (IAGP)
abnormal tooth attrition  (IAGP)
abnormal tooth mineralization  (IAGP)
abnormal tooth morphology  (IAGP)
abnormal tooth wear  (IAGP)
abnormal trabecular bone morphology  (IAGP)
abnormal upper incisor color  (IAGP)
abnormal upper incisor morphology  (IAGP)
absent enamel  (IAGP)
absent Tomes' process  (IAGP)
decreased body length  (IAGP)
decreased body mass index  (IAGP)
decreased body weight  (IAGP)
decreased bone mineral content  (IAGP)
decreased bone mineral density  (IAGP)
decreased circulating cholesterol level  (IAGP)
decreased circulating transferrin level  (IAGP)
decreased circulating triglyceride level  (IAGP)
decreased compact bone area  (IAGP)
decreased erythrocyte cell number  (IAGP)
decreased hematocrit  (IAGP)
decreased hemoglobin concentration distribution width  (IAGP)
decreased total body fat amount  (IAGP)
delayed tooth eruption  (IAGP)
enlarged heart  (IEA)
hydrometra  (IEA)
increased alkaline phosphatase activity  (IAGP)
increased lean body mass  (IAGP)
increased mean corpuscular volume  (IAGP)
mandibular cyst  (IAGP)
maxillary cyst  (IAGP)
premature tooth eruption  (IAGP)
reduced enamel thickness  (IAGP)
small superior vagus ganglion  (IEA)
References

References - curated
# Reference Title Reference Citation
1. Electronic Transfer of Homolog Data MGD and Homologene mouse data transfer
2. MGDs mouse GO annotations MGD data from the GO Consortium
3. MGD IEA MGD IEA
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. Rajpar MH, etal., Hum Mol Genet. 2001 Aug 1;10(16):1673-7.
6. Mouse MP Annotation Import Pipeline RGD automated import pipeline
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9206327   PMID:9372788   PMID:10831092   PMID:10932192   PMID:11037750   PMID:11062988   PMID:11125038   PMID:11379892   PMID:12466851   PMID:12477932   PMID:15271968   PMID:15345747  
PMID:15649948   PMID:15721138   PMID:16141072   PMID:16314533   PMID:17652207   PMID:18156176   PMID:18252720   PMID:18256159   PMID:18353004   PMID:18703497   PMID:18703866   PMID:18714142  
PMID:19251658   PMID:19320717   PMID:19758243   PMID:20487000   PMID:20598351   PMID:20599763   PMID:21038445   PMID:21267068   PMID:21285247   PMID:21873635   PMID:22243238   PMID:22351765  
PMID:22759786   PMID:22813216   PMID:22866057   PMID:23509695   PMID:23630450   PMID:23646854   PMID:23975681   PMID:24603688   PMID:26927967   PMID:27896288   PMID:28174279   PMID:28334996  
PMID:28650075   PMID:29550820   PMID:29684584   PMID:30963569   PMID:32325033   PMID:34034544   PMID:34630166   PMID:35820561   PMID:37191055  


Genomics

Comparative Map Data
Enam
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39588,635,834 - 88,653,908 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl588,635,834 - 88,653,908 (+)EnsemblGRCm39 Ensembl
GRCm38588,487,975 - 88,506,049 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl588,487,975 - 88,506,049 (+)EnsemblGRCm38mm10GRCm38
MGSCv37588,917,000 - 88,935,074 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36589,562,536 - 89,579,274 (+)NCBIMGSCv36mm8
Celera586,636,787 - 86,654,861 (+)NCBICelera
Cytogenetic Map5E1NCBI
cM Map543.66NCBI
ENAM
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38470,628,744 - 70,646,824 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl470,628,744 - 70,646,824 (+)EnsemblGRCh38hg38GRCh38
GRCh37471,494,461 - 71,512,541 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36471,713,325 - 71,731,400 (+)NCBINCBI36Build 36hg18NCBI36
Build 34471,859,495 - 71,877,571NCBI
Celera468,851,461 - 68,869,536 (+)NCBICelera
Cytogenetic Map4q13.3NCBI
HuRef467,298,512 - 67,316,504 (+)NCBIHuRef
CHM1_1471,530,455 - 71,548,530 (+)NCBICHM1_1
T2T-CHM13v2.0473,971,213 - 73,989,293 (+)NCBIT2T-CHM13v2.0
Enam
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81419,840,773 - 19,865,476 (-)NCBIGRCr8
mRatBN7.21419,556,729 - 19,581,433 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1419,556,729 - 19,581,425 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1419,545,988 - 19,570,695 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01420,864,858 - 20,889,565 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01419,567,604 - 19,592,279 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01421,194,635 - 21,219,529 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1421,194,664 - 21,219,454 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01421,104,462 - 21,130,934 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41421,137,021 - 21,162,644 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11421,137,049 - 21,167,635 (-)NCBI
Celera1418,895,175 - 18,919,889 (-)NCBICelera
Cytogenetic Map14p22NCBI
Enam
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554472,331,251 - 2,346,110 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554472,331,251 - 2,345,459 (-)NCBIChiLan1.0ChiLan1.0
ENAM
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2359,434,960 - 59,452,348 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1459,629,955 - 59,647,350 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0453,574,316 - 53,592,465 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1459,920,858 - 59,938,893 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl459,920,000 - 59,938,884 (-)Ensemblpanpan1.1panPan2
ENAM
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11359,934,299 - 59,948,279 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1359,934,299 - 59,947,949 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1359,668,461 - 59,682,099 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01360,739,886 - 60,753,519 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1360,739,886 - 60,753,519 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11360,355,261 - 60,368,899 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01359,847,002 - 59,860,635 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01360,993,798 - 61,007,450 (+)NCBIUU_Cfam_GSD_1.0
Enam
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528515,666,546 - 15,679,989 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365984,118,579 - 4,132,692 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365984,118,031 - 4,132,342 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ENAM
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl867,416,469 - 67,433,086 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1867,416,482 - 67,431,196 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2871,324,258 - 71,338,977 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ENAM
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1719,138,789 - 19,158,136 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl719,141,116 - 19,156,759 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660843,727,500 - 3,731,883 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Enam
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248901,970,153 - 1,982,428 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248901,970,153 - 1,982,428 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Enam
482 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:447
Count of miRNA genes:307
Interacting mature miRNAs:355
Transcripts:ENSMUST00000031222
Prediction methods:Miranda, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
11341716Rvfs3_mRift Valley fever susceptibility 3 (mouse)526441234138455402Mouse
4140990Lgq6_mlate growth QTL 6 (mouse)Not determined32133234100777931Mouse
4141219W10q16_mweight 10 weeks QTL 16 (mouse)Not determined32133234100777931Mouse
1301524Lmb2_mlupus in MRL and B6 F2 cross (mouse)Not determined537581488112465722Mouse
11041665Lmr24_mleishmaniasis resistance 24 (mouse)552694462107321041Mouse
11041899Lmr24a_mleishmaniasis resistance 24a (mouse)552694462107321041Mouse
4142064Tmc1m4_mTmc1 modifier 4 (mouse)Not determined554500177127001072Mouse
1301243Bmd2_mbone mineral density 2 (mouse)Not determined555388334100455525Mouse
4142317Rgcs1_mretinal ganglion cell susceptible 1 (mouse)Not determined55388334108762627Mouse
13464248Ahl13_mage related hearing loss, early onset 13 (mouse)55564587489645995Mouse
10043962Obq27_mobesity QTL 27 (mouse)Not determined55628565590285655Mouse
10044005Ahl7_mage related hearing loss 7 (mouse)Not determined55833050292330641Mouse
11040591Lmr3c_mleishmaniasis resistance 3c (mouse)55960280193602980Mouse
11040592Lmr3d_mleishmaniasis resistance 3d (mouse)55960280193602980Mouse
11040589Lmr3a_mleishmaniasis resistance 3a (mouse)55960280193602980Mouse
11040590Lmr3b_mleishmaniasis resistance 3b (mouse)55960280193602980Mouse
1301843Listr1_mlisteriosis resistance 1 (mouse)Not determined56024608194246203Mouse
13464247Ahl14_mage related hearing loss, early onset 14 (mouse)56040306294403160Mouse
11252124Modvl6_mmodifier of vacuolated lens 6 (mouse)56265056896650688Mouse
4142428Modvl1_mmodifier of vacuolated lens 1 (mouse)Not determined6265056896650688Mouse
1301010ahl2_mage related hearing loss 2 (mouse)Not determined56265056896650688Mouse
13464250Ahl15_mage related hearing loss, early onset 15 (mouse)56265056896650688Mouse
10045972Tir5_mtrypanosome infection response 5 (mouse)Not determined563705442104387065Mouse
11049560Lmr24d_mleishmaniasis resistance 24d (mouse)56437487798374996Mouse
12904739M2fscn2_mmodifier 2 of FSCN2 (mouse)566529661100529661Mouse
12904740M1fscn2_mmodifier 1 of Fscn2 (mouse)566529661100529661Mouse
26884395Humsd2_mhumerus midshaft diameter 2, 10 week (mouse)570057343132528839Mouse
10043993Hbnr10_mHeligmosomoides bakeri nematode resistance 10 (mouse)Not determined572418876106419011Mouse
27226719Tibw6_mtibia width 6, proximal, 16 week (mouse)572857343139985755Mouse
25314315Mlh1fc4_mMLH1 foci count 4 (mouse)574460661132528839Mouse
13506928Recrq8_mrecombination rate in male meiosis QTL 8 (mouse)574460661132528839Mouse
4141124Dshv2_mdorsal hippocampal volume 2 (mouse)Not determined57531534898019803Mouse
1357431Cia27_mcollagen induced arthritis 27 (mouse)Not determined575315348120018629Mouse
4141438Skmw13_mskeletal muscle weight 13 (mouse)Not determined576190263110190479Mouse
4141505Chlq14_mcirculating hormone level QTL 14 (mouse)Not determined576280786110280917Mouse
1300986Hdlq2_mHDL QTL 2 (mouse)Not determined576280786110280917Mouse
1301691Cdcs10_mcytokine deficiency colitis susceptibility 10 (mouse)Not determined576280786110280917Mouse
1301829Thyls2_mthymic lymphoma susceptibility 2 (mouse)Not determined576445064110445225Mouse
1301713Dbsty2_mdiabesity 2 (mouse)Not determined576445064110445225Mouse
13464249Ahl16_mage related hearing loss, early onset 16 (mouse)576445064110445225Mouse
1300931Cocrb6_mcocaine related behavior 6 (mouse)Not determined576445064110445225Mouse
12910784Pwgrq15_mpost-weaning growth rate QTL 15 (mouse)57717582397658215Mouse
12910816Ogrq2_moverall growth rate QTL 2 (mouse)57717582397658215Mouse
10401246Bglu13_mblood glucose level 13 (mouse)Not determined579539640113539786Mouse
10755524Mono1_mmonocyte differential 1 (mouse)580849259114849259Mouse
1301419Cypr3_mcytokine production 3 (mouse)Not determined581019649115019803Mouse
10401245Bglu18_mblood glucose level 18 (mouse)Not determined582838468116838597Mouse
13464242Ahl17_mage related hearing loss, early onset 17 (mouse)582838468116838597Mouse
12738408Lfibq5_mliver fibrosis QTL 5 (mouse)58478385389966041Mouse
10043958Chldq12_mcholesterol and HDL QTL 12 (mouse)Not determined587386871121387065Mouse
1301126Bwem1_mbody weight day 30 males 1 (mouse)Not determined587386871121387065Mouse
13464241Ahl18_mage related hearing loss, early onset 18 (mouse)587386871121387065Mouse
1300801Drb2_mdopamine receptor binding 2 (mouse)Not determined587386871121387065Mouse
1301399Cpfd3_mcerebellum pattern fissures (mouse)Not determined587386871121387065Mouse


Expression


Sequence


RefSeq Acc Id: ENSMUST00000031222   ⟹   ENSMUSP00000031222
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl588,635,841 - 88,653,908 (+)Ensembl
GRCm38.p6 Ensembl588,487,982 - 88,506,049 (+)Ensembl
RefSeq Acc Id: ENSMUST00000199104   ⟹   ENSMUSP00000142854
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl588,635,834 - 88,652,589 (+)Ensembl
GRCm38.p6 Ensembl588,487,975 - 88,504,730 (+)Ensembl
RefSeq Acc Id: NM_017468   ⟹   NP_059496
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39588,635,834 - 88,653,908 (+)NCBI
GRCm38588,487,975 - 88,506,049 (+)ENTREZGENE
MGSCv37588,917,000 - 88,935,074 (+)RGD
Celera586,636,787 - 86,654,861 (+)RGD
cM Map5 ENTREZGENE
Sequence:
RefSeq Acc Id: XM_030254122   ⟹   XP_030109982
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39588,636,575 - 88,652,542 (+)NCBI
GRCm38588,488,716 - 88,504,683 (+)NCBI
Sequence:
RefSeq Acc Id: NP_059496   ⟸   NM_017468
- Peptide Label: precursor
- UniProtKB: O55196 (UniProtKB/Swiss-Prot),   Q548P8 (UniProtKB/TrEMBL),   A0A0G2JEP7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_030109982   ⟸   XM_030254122
- Peptide Label: isoform X1
- UniProtKB: A0A0G2JEP7 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSMUSP00000031222   ⟸   ENSMUST00000031222
RefSeq Acc Id: ENSMUSP00000142854   ⟸   ENSMUST00000199104

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O55196-F1-model_v2 AlphaFold O55196 1-1274 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene MGI:1333772 AgrOrtholog
Ensembl Genes ENSMUSG00000029286 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000031222 ENTREZGENE
  ENSMUST00000031222.9 UniProtKB/Swiss-Prot
  ENSMUST00000199104.5 UniProtKB/TrEMBL
InterPro Enamelin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:13801 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
MGD MGI:1333772 ENTREZGENE
NCBI Gene 13801 ENTREZGENE
PANTHER ENAMELIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR16784 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Enamelin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Enam PhenoGen
UniProt A0A0G2JEP7 ENTREZGENE, UniProtKB/TrEMBL
  ENAM_MOUSE UniProtKB/Swiss-Prot, ENTREZGENE
  Q548P8 ENTREZGENE, UniProtKB/TrEMBL