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This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
AMELX (Amelogenin X-Linked) is a Protein Coding gene. Diseases associated with AMELX include Amelogenesis Imperfecta, Type Ie and Amelogenesis Imperfecta. Gene Ontology (GO) annotations related to this gene include identical protein binding and structural constituent of tooth enamel. An important paralog of this gene is AMELY.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH0XJ011293 | Promoter | 0.3 | EPDnew | 600.7 | 0.0 | -19 | 0.1 | AMELX HSALNG0136644 HCCS ARHGAP6 | ||
GH0XJ011265 | Promoter/Enhancer | 1.4 | EPDnew Ensembl ENCODE | 12.4 | -27.2 | -27180 | 1.6 | IKZF1 MTA2 ZSCAN4 PKNOX1 MTA1 ZNF24 NKRF TSC22D4 HDGF GATAD2A | ARHGAP6 AMELX HSALNG0136644 HCCS | |
GH0XJ011442 | Enhancer | 0.2 | FANTOM5 | 1.7 | +148.9 | 148937 | 0.1 | AMELX HSALNG0136647 HSALNG0136649 ARHGAP6 | ||
GH0XJ011340 | Enhancer | 1.5 | FANTOM5 Ensembl ENCODE dbSUPER | 0.3 | +48.4 | 48388 | 3.6 | HNRNPL RFX1 LEF1 IKZF1 JUND NR2C1 IKZF2 SP1 BRD9 ZNF24 | ARHGAP6 HCCS MSL3 GOT2P7 piR-38352-586 AMELX | |
GH0XJ011351 | Enhancer | 1.4 | FANTOM5 Ensembl ENCODE dbSUPER | 0.2 | +58.4 | 58388 | 4.8 | LEF1 IKZF1 BACH1 MTA2 PKNOX1 IKZF2 ZNF740 RCOR1 TRIM22 HDAC1 | ARHGAP6 piR-38352-586 GOT2P7 AMELX |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 18434575 |
GO:0008083 | growth factor activity | ISS | 1734713 |
GO:0030345 | structural constituent of tooth enamel | IMP | 1483698 |
GO:0042802 | identical protein binding | ISS | 1734713 |
GO:0046848 | hydroxyapatite binding | ISS | 1734713 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0009986 | cell surface | ISS | 1734713 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001649 | osteoblast differentiation | ISS | 1734713 |
GO:0001837 | epithelial to mesenchymal transition | ISS | 1734713 |
GO:0002062 | chondrocyte differentiation | ISS | 1734713 |
GO:0007155 | cell adhesion | ISS | 1734713 |
GO:0007165 | signal transduction | TAS | 16674683 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | AMELX 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | AMELX 30 31 |
|
OneToMany | |
Rat (Rattus norvegicus) |
Mammalia | Amelx 30 |
|
||
Cow (Bos Taurus) |
Mammalia | AMELX 30 31 |
|
ManyToMany | |
AMGY 31 |
|
ManyToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | AMEL 31 |
|
OneToMany | |
Mouse (Mus musculus) |
Mammalia | Amelx 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | AMELX 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
617639 | Pathogenic: Amelogenesis imperfecta | 11,298,274(+) | AC/A | FRAMESHIFT_VARIANT,INTRON_VARIANT | |
727433 | Benign: not provided | 11,298,839(+) | G/T | MISSENSE_VARIANT,INTRON_VARIANT | |
735678 | Benign: not provided | 11,298,877(+) | G/A | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
742246 | Likely Benign: not provided | 11,298,285(+) | G/C | INTRON_VARIANT | |
745099 | Likely Benign: not provided | 11,298,942(+) | C/A | MISSENSE_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2739963 | CNV | deletion | 23290073 |
Disorder | Aliases | PubMed IDs |
---|---|---|
amelogenesis imperfecta, type ie |
|
|
amelogenesis imperfecta |
|
|
amelogenesis imperfecta hypomaturation type |
|
|
dental fluorosis |
|
|
nance-horan syndrome |
|
|