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Aliases for AMELY Gene

Aliases for AMELY Gene

  • Amelogenin, Y-Linked 2 3 5
  • Amelogenin (Y Chromosome) 2 3
  • AMGL 3 4
  • AMGY 3 4
  • Amelogenin, Y Isoform 3

External Ids for AMELY Gene

Previous HGNC Symbols for AMELY Gene

  • AMGL

Previous GeneCards Identifiers for AMELY Gene

  • GC0YM006699
  • GC0YM006436
  • GC0YM004293

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 Enamel Caries and Freemartinism. 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

Regulatory Elements for AMELY Gene

Enhancers for AMELY Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0YF007272 1 FANTOM5 ENCODE 1.4 -362.8 -362765 4.3 SOX13 ELF3 CTCF SAP130 ZFP64 TEAD4 ARID4B SIN3A DMAP1 THRB AMELY PRKY RN7SKP282
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AMELY on UCSC Golden Path with GeneCards custom track

Genomic Location for AMELY Gene

Chromosome:
Y
Start:
6,865,918 bp from pter
End:
6,911,937 bp from pter
Size:
46,020 bases
Orientation:
Minus strand

Genomic View for AMELY Gene

Genes around AMELY on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AMELY Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AMELY Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

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 & Families for AMELY Gene

Protein Domains for AMELY Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for AMELY Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99218

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for AMELY Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AMELY Gene

MGI Knock Outs for AMELY:

Animal Model Products

miRNA for AMELY Gene

miRTarBase miRNAs that target AMELY

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AMELY gene
Compartment Confidence
extracellular 5
mitochondrion 2
nucleus 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for AMELY Gene

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

Pathways & Interactions for AMELY Gene

SuperPathways for AMELY Gene

No Data Available

Interacting Proteins for AMELY Gene

Selected Interacting proteins: Q99218-AMELY_HUMAN for AMELY Gene via IID

Gene Ontology (GO) - Biological Process for AMELY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0031214 biomineral tissue development IEA --
GO:0034505 tooth mineralization IBA --
genes like me logo Genes that share ontologies with AMELY: view

No data available for Pathways by source and SIGNOR curated interactions 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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for AMELY Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Thyroid (x12.7), Pancreas (x10.4), and Testis (x9.4).

NURSA nuclear receptor signaling pathways regulating expression of AMELY Gene:

AMELY

SOURCE GeneReport for Unigene cluster for AMELY Gene:

Hs.1238
genes like me logo Genes that share expression patterns with AMELY: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for AMELY Gene

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 34 35
  • 99.13 (n)
mouse
(Mus musculus)
Mammalia Amelx 34 16 35
  • 89.53 (n)
dog
(Canis familiaris)
Mammalia AMELX 35
  • 87 (a)
OneToMany
cow
(Bos Taurus)
Mammalia AMGY 35
  • 82 (a)
ManyToMany
AMELX 35
  • 77 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia AMEL 35
  • 74 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia AMELX 35
  • 60 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 45 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia amelx 34
  • 62.63 (n)
Species where no ortholog for AMELY was found in the sources mined by GeneCards:
  • 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

(1) 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
rs111883067 -- 6,871,993(+) AACAA(A/C)AAAAA intron-variant
rs112773153 -- 6,874,529(+) TGCAT(G/T)ATCTA upstream-variant-2KB
rs113271461 -- 6,869,804(+) AATGG(C/T)CAGGC intron-variant
rs113396587 -- 6,869,573(+) TGTGA(A/G)TATTA intron-variant
rs13304066 -- 6,875,364(+) AGAAA(A/T)TTTTT upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv7473 OTHER inversion 18451855
esv3577579 CNV gain 25503493

Variation tolerance for AMELY Gene

Gene Damage Index Score: 0.19; 4.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AMELY Gene

Human Gene Mutation Database (HGMD)
AMELY
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AMELY

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMELY Gene

Disorders for AMELY Gene

MalaCards: The human disease database

(13) MalaCards diseases for AMELY Gene - From: DISEASES

Disorder Aliases PubMed IDs
enamel caries
  • dental caries limited to enamel
freemartinism
teeth hard tissue disease
endocervicitis
dental pulp necrosis
  • necrosis of the pulp
- elite association - COSMIC cancer census association via MalaCards
Search AMELY in MalaCards View complete list of genes associated with diseases

Relevant External Links for AMELY

Human Genome Epidemiology (HuGE) Navigator
AMELY
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AMELY
genes like me logo Genes that share disorders with AMELY: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 22 64
  2. A human X-Y homologous region encodes 'amelogenin'. (PMID: 2004775) Nakahori Y. … Nakagome Y. (Genomics 1991) 2 3 4 64
  3. 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 22 64
  4. [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 22 64
  5. 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 64

Products for AMELY Gene

Sources for AMELY Gene

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