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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 a related gene on chromosome X cause X-linked amelogenesis imperfecta. [provided by RefSeq, Jul 2008]
AMELY (Amelogenin Y-Linked) is a Protein Coding gene. Diseases associated with AMELY include Amelogenesis Imperfecta. Gene Ontology (GO) annotations related to this gene include structural constituent of tooth enamel. An important paralog of this gene is AMELX.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH0YJ006908 | Enhancer | 0.6 | ENCODE | 750.6 | +1.4 | 1380 | 3.3 | HLF SP1 CEBPG CEBPA GATAD2A FOXA2 JUND CEBPB POLR2A NFIL3 | ENSG00000183385-002 AMELY TBL1Y | |
GH0YJ007272 | Enhancer | 0.9 | FANTOM5 ENCODE | 1.4 | -362.8 | -362764 | 4.3 | CTCF ELF3 POLR2A KAT7 SOX13 TGIF2 SAP130 TFDP1 TEAD1 SIN3A | PRKY AMELY HSALNG0141026 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0030345 | structural constituent of tooth enamel | IDA | 1734713 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0062023 | collagen-containing extracellular matrix | IC | 1734713 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007275 | multicellular organism development | IEA | -- |
GO:0031214 | biomineral tissue development | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | AMELY 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Amelx 17 33 32 |
|
||
dog (Canis familiaris) |
Mammalia | AMELX 33 |
|
OneToMany | |
cow (Bos Taurus) |
Mammalia | AMGY 33 |
|
ManyToMany | |
AMELX 33 |
|
ManyToMany | |||
platypus (Ornithorhynchus anatinus) |
Mammalia | AMEL 33 |
|
OneToMany | |
oppossum (Monodelphis domestica) |
Mammalia | AMELX 33 |
|
OneToMany | |
lizard (Anolis carolinensis) |
Reptilia | -- 33 |
|
OneToMany | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | amelx 32 |
|
SNP ID | Clin | Chr 0Y pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000712407 | -- | 6,874,942(-) | A/G | upstream_transcript_variant | |
rs1001903946 | -- | 6,870,293(-) | T/C | intron_variant | |
rs1002385553 | -- | 6,868,376(-) | G/A | coding_sequence_variant, synonymous_variant | |
rs1007485601 | -- | 6,874,689(-) | T/C | upstream_transcript_variant | |
rs1009216970 | -- | 6,866,011(-) | T/C | 3_prime_UTR_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3577579 | CNV | gain | 25503493 |
nsv7473 | OTHER | inversion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
amelogenesis imperfecta |
|