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Aliases for AMELY Gene

Aliases for AMELY Gene

  • Amelogenin, Y-Linked 2 3
  • AMGL 3 4 6
  • Amelogenin (Y Chromosome) 2 3
  • AMGY 3 4
  • Amelogenin, Y Isoform 3

External Ids for AMELY Gene

Previous Symbols for AMELY Gene

  • AMGL

Summaries for AMELY Gene

Entrez Gene Summary for AMELY Gene

  • 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]

GeneCards Summary for AMELY Gene

AMELY (Amelogenin, Y-Linked) is a Protein Coding gene. Diseases associated with AMELY include dental pulp necrosis and dental fluorosis. GO annotations related to this gene include structural constituent of tooth enamel. An important paralog of this gene is AMELX.

UniProtKB/Swiss-Prot for AMELY Gene

  • Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stage of tooth enamel development. Thought to play a major role in the structural organization and mineralization of developing enamel

Gene Wiki entry for AMELY Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AMELY Gene

Genomics for AMELY Gene

Genomic Location for AMELY Gene

Start:
6,865,918 bp from pter
End:
6,874,027 bp from pter
Size:
8,110 bases
Orientation:
Minus strand

Genomic View for AMELY Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AMELY Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AMELY Gene

Regulatory Elements for AMELY Gene

Proteins for AMELY Gene

  • Protein details for AMELY Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99218-AMELY_HUMAN
    Recommended name:
    Amelogenin, Y isoform
    Protein Accession:
    Q99218
    Secondary Accessions:
    • Q6RWT1

    Protein attributes for AMELY Gene

    Size:
    206 amino acids
    Molecular mass:
    23250 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for AMELY Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AMELY Gene

Proteomics data for AMELY Gene at MOPED

Post-translational modifications for AMELY Gene

No Post-translational modifications

Other Protein References for AMELY Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AMELY Gene

Domains for AMELY Gene

Protein Domains for AMELY Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

AMELY_HUMAN
Family:
  • Belongs to the amelogenin family.:
    • Q99218
genes like me logo Genes that share domains with AMELY: view

No data available for Gene Families for AMELY Gene

Function for AMELY Gene

Molecular function for AMELY Gene

GENATLAS Biochemistry: amelogenin,extracellular matrix protein of the dental enamel,Y linked
UniProtKB/Swiss-Prot Function: Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stage of tooth enamel development. Thought to play a major role in the structural organization and mineralization of developing enamel

Gene Ontology (GO) - Molecular Function for AMELY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030345 structural constituent of tooth enamel IDA 1734713
genes like me logo Genes that share ontologies with AMELY: view

miRNA for AMELY Gene

miRTarBase miRNAs that target AMELY

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for AMELY Gene

Localization for AMELY Gene

Subcellular locations from UniProtKB/Swiss-Prot for AMELY Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AMELY Gene COMPARTMENTS Subcellular localization image for AMELY gene
Compartment Confidence
extracellular 5
golgi apparatus 2
mitochondrion 2
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for AMELY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0031012 extracellular matrix IC 1734713
genes like me logo Genes that share ontologies with AMELY: view

Pathways for AMELY Gene

SuperPathways for AMELY Gene

No Data Available

Interacting Proteins for AMELY Gene

Gene Ontology (GO) - Biological Process for AMELY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organismal development --
GO:0031214 biomineral tissue development IEA --
genes like me logo Genes that share ontologies with AMELY: view

No data available for Pathways by source for AMELY Gene

Transcripts for AMELY Gene

mRNA/cDNA for AMELY Gene

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AMELY Gene

Amelogenin, Y-linked:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AMELY Gene

No ASD Table

Relevant External Links for AMELY Gene

GeneLoc Exon Structure for
AMELY
ECgene alternative splicing isoforms for
AMELY

Expression for AMELY Gene

mRNA expression in normal human tissues for AMELY Gene

mRNA differential expression in normal tissues according to GTEx for AMELY Gene

This gene is overexpressed in Thyroid (12.7), Pancreas (10.4), and Testis (9.4).

SOURCE GeneReport for Unigene cluster for AMELY Gene Hs.1238

genes like me logo Genes that share expressions with AMELY: view

Orthologs for AMELY Gene

This gene was present in the common ancestor of chordates.

Orthologs for AMELY Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AMELY 36
  • 99.13 (n)
  • 97.92 (a)
AMELY 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AMELX 37
  • 77 (a)
ManyToMany
AMGY 37
  • 82 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia AMELX 37
  • 87 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Amelx 36
  • 89.53 (n)
  • 85.12 (a)
Amelx 37
  • 71 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia AMELX 37
  • 60 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia AMEL 37
  • 74 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 45 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia amelx 36
  • 62.63 (n)
  • 56.57 (a)
Species with no ortholog for AMELY:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for AMELY Gene

ENSEMBL:
Gene Tree for AMELY (if available)
TreeFam:
Gene Tree for AMELY (if available)

Paralogs for AMELY Gene

Paralogs for AMELY Gene

Selected SIMAP similar genes for AMELY Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with AMELY: view

Variants for AMELY Gene

Sequence variations from dbSNP and Humsavar for AMELY Gene

SNP ID Clin Chr 0Y pos Sequence Context AA Info Type MAF
rs2071394 -- 6,868,113(-) CCTGC(A/G)GCCCC reference, missense
rs13304066 -- 6,875,364(+) AGAAA(A/T)TTTTT upstream-variant-2KB
rs13304521 -- 6,872,469(+) TTTAA(A/C)CCTTA intron-variant
rs34551924 -- 6,872,663(-) ACATG(C/T)TTGAG intron-variant
rs34820858 -- 6,868,771(-) GTGCT(A/C)ACCCC reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for AMELY Gene

Variant ID Type Subtype PubMed ID
nsv7473 OTHER Inversion 18451855

Relevant External Links for AMELY Gene

HapMap Linkage Disequilibrium report
AMELY
Human Gene Mutation Database (HGMD)
AMELY

Disorders for AMELY Gene

(4) University of Copenhagen DISEASES for AMELY Gene

(1) Novoseek inferred disease relationships for AMELY Gene

Disease -log(P) Hits PubMed IDs
amelogenesis imperfecta 72.4 1

Relevant External Links for AMELY

Human Genome Epidemiology (HuGE) Navigator
AMELY
genes like me logo Genes that share disorders with AMELY: view

No data available for UniProtKB/Swiss-Prot for AMELY Gene

Publications for AMELY Gene

  1. The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes. (PMID: 1734713) Salido E.C. … Shapiro L.J. (Am. J. Hum. Genet. 1992) 3 4 23
  2. A human X-Y homologous region encodes 'amelogenin'. (PMID: 2004775) Nakahori Y. … Nakagome Y. (Genomics 1991) 2 3 4
  3. [Types and frequencies of variants in Amelogenin gene in Chinese population]. (PMID: 18067069) Chen A.P. … Sun H.Y. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007) 3 23
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y. (PMID: 17189292) Jobling M.A. … Parkin E.J. (Hum. Mol. Genet. 2007) 3 23

Products for AMELY Gene

Sources for AMELY Gene

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