Enam (enamelin) - Rat Genome Database

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Gene: Enam (enamelin) Rattus norvegicus
Analyze
Symbol: Enam
Name: enamelin
RGD ID: 1306796
Description: Predicted to be a structural constituent of tooth enamel. Predicted to be involved in ameloblast differentiation; amelogenesis; and positive regulation of enamel mineralization. Predicted to act upstream of or within odontogenesis of dentin-containing tooth and regulation of cell morphogenesis. Predicted to be active in extracellular matrix. Human ortholog(s) of this gene implicated in amelogenesis imperfecta type 1B and amelogenesis imperfecta type 1C. Orthologous to human ENAM (enamelin); INTERACTS WITH 17beta-estradiol; bisphenol A; cadmium dichloride.
Type: protein-coding
RefSeq Status: PROVISIONAL
Previously known as: LOC289525
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
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
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

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
2. Rat ISS GO annotations from GOA human gene data--August 2006 GOA data from the GO Consortium
3. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
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. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. Comprehensive gene review and curation RGD comprehensive gene curation
Additional References at PubMed
PMID:15271968   PMID:15649948   PMID:18252720   PMID:18256159   PMID:22813216   PMID:24603688  


Genomics

Comparative Map Data
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
(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
(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
(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
73 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:103
Count of miRNA genes:86
Interacting mature miRNAs:87
Transcripts:ENSRNOT00000049462
Prediction methods:Microtar, Miranda, Rnahybrid
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 (GRCr8)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1300114Srn2Serum renin concentration QTL 23.27blood renin amount (VT:0003349)plasma renin activity level (CMO:0000116)14381307421217635Rat
631528Scl11Serum cholesterol level QTL 114.9blood cholesterol amount (VT:0000180)blood total cholesterol level (CMO:0000051)141757341219726296Rat
1581500Renag1Renal agenesis QTL 1kidney development trait (VT:0000527)percentage of study population developing unilateral renal agenesis during a period of time (CMO:0000940)14817066868298175Rat
731183Pia20Pristane induced arthritis QTL 203.55joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)14908897839057237Rat
631212Bw5Body weight QTL55.43retroperitoneal fat pad mass (VT:0010430)retroperitoneal fat pad weight to body weight ratio (CMO:0000635)141103081230320092Rat
2302277Gluco38Glucose level QTL 385.8blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)141103062228035204Rat
1331740Bw26Body weight QTL 263.028body mass (VT:0001259)body weight (CMO:0000012)14381307430767156Rat
619619Rf4Renal disease susceptibility QTL 44.10.002urine total protein amount (VT:0000032)urine protein excretion rate to body weight ratio (CMO:0001099)14132754612Rat
1358296Ael3Aortic elastin QTL 33.70.00051aorta elastin amount (VT:0003905)aortic elastin14826709053267090Rat
71117Niddm17Non-insulin dependent diabetes mellitus QTL 172.35blood glucose amount (VT:0000188)plasma glucose level (CMO:0000042)141759376142336881Rat
61420Pia6Pristane induced arthritis QTL 64.9joint integrity trait (VT:0010548)arthritic paw count (CMO:0001460)141863134542337007Rat
70195Mcs8Mammary carcinoma susceptibility QTL 84.28mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)14381307424531477Rat
2300183Bmd60Bone mineral density QTL 605.70.0001femur mineral mass (VT:0010011)volumetric bone mineral density (CMO:0001553)14126541967Rat
631839Niddm37Non-insulin dependent diabetes mellitus QTL 373.37blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)141103062295876975Rat
2313397Coatc1Coat color QTL1coat/hair pigmentation trait (VT:0010463)coat/hair color measurement (CMO:0001808)141854133263541332Rat
631262Tcas4Tongue tumor susceptibility QTL 47.29tongue integrity trait (VT:0010553)number of squamous cell tumors of the tongue with diameter greater than 3 mm (CMO:0001950)141762256142337007Rat
634352Apr6Acute phase response QTL 63.7blood interleukin-6 amount (VT:0008595)plasma interleukin-6 level (CMO:0001927)14141131407Rat
2300159Bmd61Bone mineral density QTL 615.30.0001femur mineral mass (VT:0010011)volumetric bone mineral density (CMO:0001553)14126541967Rat
2302045Pia39Pristane induced arthritis QTL 394.90.001blood immunoglobulin amount (VT:0002460)serum immunoglobulin G2a level (CMO:0002116)14826709053267090Rat
1300140Srn3Serum renin concentration QTL 33.19blood renin amount (VT:0003349)plasma renin activity level (CMO:0000116)141487516830883947Rat


Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
7 6 5 24 32 37 9 25 9 1 70 40 15 8 21 28

Sequence


Ensembl Acc Id: ENSRNOT00000049462   ⟹   ENSRNOP00000044916
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1419,556,729 - 19,581,425 (-)Ensembl
Rnor_6.0 Ensembl1421,194,664 - 21,219,454 (-)Ensembl
RefSeq Acc Id: NM_001106001   ⟹   NP_001099471
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81419,840,773 - 19,865,476 (-)NCBI
mRatBN7.21419,556,729 - 19,581,433 (-)NCBI
Rnor_6.01421,194,635 - 21,219,529 (-)NCBI
Rnor_5.01421,104,462 - 21,130,934 (-)NCBI
RGSC_v3.41421,137,021 - 21,162,644 (-)RGD
Celera1418,895,175 - 18,919,889 (-)RGD
Sequence:
Protein Sequences
Protein RefSeqs NP_001099471 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein EDL88513 (Get FASTA)   NCBI Sequence Viewer  
  EDL88514 (Get FASTA)   NCBI Sequence Viewer  
  EDL88515 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSRNOP00000044916.4
RefSeq Acc Id: NP_001099471   ⟸   NM_001106001
- UniProtKB: A6KKJ6 (UniProtKB/TrEMBL),   A6KKJ5 (UniProtKB/TrEMBL),   D3ZIB0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000044916   ⟸   ENSRNOT00000049462

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-D3ZIB0-F1-model_v2 AlphaFold D3ZIB0 1-1380 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen


Additional Information

Database Acc Id Source(s)
AGR Gene RGD:1306796 AgrOrtholog
BioCyc Gene G2FUF-16158 BioCyc
Ensembl Genes ENSRNOG00000003672 Ensembl, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000049462.6 UniProtKB/TrEMBL
InterPro Enamelin UniProtKB/TrEMBL
KEGG Report rno:289525 UniProtKB/TrEMBL
NCBI Gene 289525 ENTREZGENE
PANTHER ENAMELIN UniProtKB/TrEMBL
  Enamelin UniProtKB/TrEMBL
Pfam Enamelin UniProtKB/TrEMBL
PhenoGen Enam PhenoGen
RatGTEx ENSRNOG00000003672 RatGTEx
UniProt A6KKJ5 ENTREZGENE, UniProtKB/TrEMBL
  A6KKJ6 ENTREZGENE, UniProtKB/TrEMBL
  D3ZIB0 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2008-04-30 Enam  enamelin   Enam_predicted  enamelin (predicted)  'predicted' is removed 2292626 APPROVED
2005-01-12 Enam_predicted  enamelin (predicted)      Symbol and Name status set to approved 70820 APPROVED