AMELY Gene (Protein Coding)

Amelogenin Y-Linked

GC0YM006865
GIFtS:
32
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] See more...

Aliases for AMELY Gene

Aliases for AMELY Gene

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

External Ids for AMELY Gene

Previous HGNC Symbols for AMELY Gene

  • AMGL

Previous GeneCards Identifiers for AMELY Gene

  • GC0YM006699
  • GC0YM006436
  • GC0YM006777
  • 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 Amelogenesis Imperfecta. Gene Ontology (GO) annotations related to this gene include structural constituent of tooth enamel. An important paralog of this gene is AMELX.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for AMELY Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AMELY Gene

Genomics for AMELY Gene

GeneHancer (GH) Regulatory Elements for AMELY Gene

Promoters and enhancers for AMELY Gene
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
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AMELY on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AMELY gene promoter:
  • aMEF-2
  • AML1a
  • FOXF2
  • FOXL1
  • FOXO1
  • FOXO1a
  • MEF-2A
  • RSRFC4
  • TBP

Genomic Locations for AMELY Gene

Genomic Locations for AMELY Gene
chrY:6,865,918-6,911,937
(GRCh38/hg38)
Size:
46,020 bases
Orientation:
Minus strand
chrY:6,733,959-6,742,068
(GRCh37/hg19)
Size:
8,110 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 Structure • Gene Density

RefSeq DNA sequence for AMELY Gene

Proteins for AMELY Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Gene Families for AMELY Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for AMELY Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AMELY Gene

GenScript: Design optimal peptide antigens:
  • Amelogenin, Y isoform (AMELY_HUMAN)

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

Function for AMELY Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for AMELY Gene

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.
GENATLAS Biochemistry:
amelogenin,extracellular matrix protein of the dental enamel,Y linked

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

Animal Models for AMELY Gene

MGI Knock Outs for AMELY:

Animal Model Products

CRISPR Products

miRNA for AMELY Gene

miRTarBase miRNAs that target AMELY

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , 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.

Gene Ontology (GO) - Cellular Components for AMELY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0062023 collagen-containing extracellular matrix IC 1734713
genes like me logo Genes that share ontologies with AMELY: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for AMELY Gene

Pathways & Interactions for AMELY Gene

PathCards logo

SuperPathways for AMELY Gene

No Data Available

Interacting Proteins for AMELY Gene

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

GPS-Prot Interaction Network for AMELY

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 --
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

Drugs & Compounds for AMELY Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for AMELY Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for AMELY Gene

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

CRISPR Products

Clone 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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AMELY Gene

mRNA expression in normal human tissues for AMELY Gene
mRNA expression by GTEx for AMELY GenemRNA expression by BioGPS 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

Phenotype-based relationships between genes and organs from Gene ORGANizer for AMELY Gene

Germ Layers:
  • mesoderm
Systems:
  • skeleton
Regions:
Head and neck:
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
genes like me logo Genes that share expression patterns with AMELY: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES 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 33 32
  • 99.13 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Amelx 17 33 32
  • 89.53 (n)
dog
(Canis familiaris)
 Mammalia AMELX 33
  • 87 (a)
 OneToMany
cow
(Bos Taurus)
 Mammalia AMGY 33
  • 82 (a)
 ManyToMany
AMELX 33
  • 77 (a)
 ManyToMany
platypus
(Ornithorhynchus anatinus)
 Mammalia AMEL 33
  • 74 (a)
 OneToMany
oppossum
(Monodelphis domestica)
 Mammalia AMELX 33
  • 60 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 33
  • 45 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia amelx 32
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AMELY: view image

Paralogs for AMELY Gene

Paralogs for AMELY Gene

(1) SIMAP similar genes for AMELY Gene using alignment to 2 proteins:

  • AMELY_HUMAN
  • J3KPK5_HUMAN
genes like me logo Genes that share paralogs with AMELY: view

Variants for AMELY Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for AMELY Gene

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

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

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

Variation tolerance for AMELY Gene

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

Additional Variant Information for AMELY Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for AMELY Gene

MalaCards: The human disease database

(1) MalaCards diseases for AMELY Gene - From: HGMD, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
amelogenesis imperfecta
  • ai
- elite association - COSMIC cancer census association via MalaCards
Search AMELY in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AMELY

Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 EC … Shapiro LJ (American journal of human genetics 1992) 3 4 23 56
  2. A human X-Y homologous region encodes "amelogenin". (PMID: 2004775) Nakahori Y … Nakagome Y (Genomics 1991) 2 3 4 56
  3. [Types and frequencies of variants in Amelogenin gene in Chinese population]. (PMID: 18067069) Chen AP … Sun HY (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2007) 3 23 56
  4. Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y. (PMID: 17189292) Jobling MA … Parkin EJ (Human molecular genetics 2007) 3 23 56
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56

ExternalLinks

View latest publications for AMELY gene in Mastermind

Products for AMELY Gene

Sources for AMELY Gene