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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]
ENAM (Enamelin) is a Protein Coding gene. Diseases associated with ENAM include Amelogenesis Imperfecta, Type Ic and Amelogenesis Imperfecta, Type Ib.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH04J070677 | Enhancer | 1.3 | FANTOM5 Ensembl ENCODE dbSUPER | 10.8 | +50.5 | 50530 | 3.6 | STAT3 RELA TCF12 IKZF2 TRIM22 PKNOX1 EED ARID3A DPF2 RELB | LOC101927297 ENAM JCHAIN DCK ENSG00000286848 HSALNG0035032 | |
GH04J070680 | Enhancer | 0.7 | Ensembl dbSUPER | 10.8 | +53.7 | 53710 | 2 | TCF12 YY1 ARID3A RUNX3 BCOR TAL1 TBL1XR1 ATF2 KDM1A ATF7 | JCHAIN ENAM LOC101927297 ENSG00000286848 HSALNG0035032 | |
GH04J070631 | Enhancer | 0.5 | Ensembl | 0.7 | +4.7 | 4730 | 1.2 | JUND JUN FOS FOSL1 FOSL2 ATF3 MEIS2 | JCHAIN UTP3 ENAM HSALNG0035032 ENSG00000286848 | |
GH04J070667 | Promoter/Enhancer | 1 | EPDnew Ensembl dbSUPER | 0.3 | +39.0 | 39030 | 1 | POLR2A RELB RUNX3 TBP TBL1XR1 TBX21 NFATC1 | JCHAIN LOC101927297 ENSG00000286848 HSALNG0035032 ENAM | |
GH04J070601 | Enhancer | 0.8 | Ensembl ENCODE | 0.3 | -25.9 | -25859 | 0.5 | CTCF REST RAD21 TRIM22 RELA RNF2 SMC3 BMI1 GATA3 SPI1 | AMBN ENAM |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25789606 |
GO:0030345 | structural constituent of tooth enamel | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
GO:0031012 | extracellular matrix | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0022604 | regulation of cell morphogenesis | IEA | -- |
GO:0031214 | biomineral tissue development | IEA | -- |
GO:0036305 | ameloblast differentiation | IBA | 21873635 |
GO:0042475 | odontogenesis of dentin-containing tooth | IEA | -- |
GO:0043687 | post-translational protein modification | TAS | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ENAM 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ENAM 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ENAM 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Enam 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Enam 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | ENAM 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ENAM 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ENAM 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
709767 | Conflicting Interpretations: Amelogenesis imperfecta; not provided | 70,642,822(+) | G/A | MISSENSE_VARIANT | |
711122 | Conflicting Interpretations: Amelogenesis imperfecta; not provided | 70,642,607(+) | A/T | MISSENSE_VARIANT | |
716857 | Benign/Likely Benign: Amelogenesis imperfecta; not provided | 70,632,659(+) | G/T | SYNONYMOUS_VARIANT | |
723981 | Likely Benign: not provided | 70,642,815(+) | G/A | SYNONYMOUS_VARIANT | |
735510 | Likely Benign: not provided | 70,643,748(+) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3423205 | CNV | duplication | 20981092 |
nsv1012495 | CNV | gain | 25217958 |
nsv829965 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
amelogenesis imperfecta, type ic |
|
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amelogenesis imperfecta, type ib |
|
|
hypoplastic amelogenesis imperfecta |
|
|
amelogenesis imperfecta |
|
|
amelogenesis imperfecta, type iiia |
|
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