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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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AMELY
amelogenin Y-linked
Chromosome Y · Yp11.2
NCBI Gene: 266Ensembl: ENSG00000099721.16HGNC: HGNC:462UniProt: Q99218
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
structural constituent of tooth enamelenamel mineralizationextracellular matrixHypomaturation amelogenesis imperfectaHypoplastic amelogenesis imperfectaamelogenesis imperfectadentin dysplasia type I
✦AI Summary

AMELY (amelogenin Y-linked) is a Y chrY-encoded gene that plays a critical role in tooth enamel biomineralization and structural organization. During the secretory stage of enamel development, AMELY regulates crystallite formation and serves as a structural constituent of tooth enamel through regulation of enamel mineralization processes. The gene's functional importance is evidenced by its use in forensic and agricultural applications as a sex determination marker, where sequence differences between AMELX and AMELY enable reliable gender identification across mammalian species 12. Deletions encompassing AMELY in the Yp11.2 region can result in allele dropout, leading to potential errors in gender determination, highlighting the gene's chrY integrity significance 13. Beyond its established role in enamel mineralization, computational analyses suggest AMELY may participate in broader regulatory networks associated with cellular processes including angiogenesis and immune response in pathological contexts such as hepatocellular carcinoma, though these associations require further investigation 4. Additionally, loss of the Y chromosome Y AMELY has been associated with impaired cardiovascular outcomes in aging males, suggesting potential systemic consequences of Y chromosome Y loss 5.

Sources cited
1
AMELY deletions in Yp11.2 region cause allele dropout and errors in gender determination
PMID: 24315592
2
AMELY sequence differences from AMELX enable reliable sex determination in mammals using amelogenin assays
PMID: 18384076
3
Novel mutations at AMELY primer binding regions can cause allele dropout in forensic DNA typing
PMID: 35076748
4
AMELY shows altered expression in hepatocellular carcinoma with potential involvement in angiogenesis and immune response pathways
PMID: 23426651
5
Loss of Y chromosome containing AMELY is associated with cardiac fibrosis and impaired survival outcomes
PMID: 36932691
Disease Associationsⓘ20
Hypomaturation amelogenesis imperfectaOpen Targets
0.12Weak
Hypoplastic amelogenesis imperfectaOpen Targets
0.12Weak
amelogenesis imperfectaOpen Targets
0.12Weak
dentin dysplasia type IOpen Targets
0.11Weak
amelogenesis imperfecta hypomaturation type 2A4Open Targets
0.11Weak
amelogenesis imperfecta, IIa 1KOpen Targets
0.11Weak
amelogenesis imperfecta type 3BOpen Targets
0.11Weak
keratosis pilaris atrophicansOpen Targets
0.11Weak
amelogenesis imperfecta, type ijOpen Targets
0.11Weak
amelogenesis imperfecta type 1AOpen Targets
0.11Weak
male infertilityOpen Targets
0.11Weak
dentin dysplasia type IIOpen Targets
0.11Weak
dentinogenesis imperfecta type 3Open Targets
0.10Weak
hypomaturation-hypoplastic amelogenesis imperfecta with taurodontismOpen Targets
0.10Weak
tooth agenesisOpen Targets
0.10Weak
Dental ankylosisOpen Targets
0.10Suggestive
Trichodysplasia - amelogenesis imperfectaOpen Targets
0.10Suggestive
trichodysplasia-amelogenesis imperfecta syndromeOpen Targets
0.10Suggestive
amelogenesis imperfecta, type 3AOpen Targets
0.10Suggestive
OligodontiaOpen Targets
0.10Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
USP9YProtein interaction100%SRYProtein interaction99%UTYProtein interaction96%TMSB4YProtein interaction93%TBL1YProtein interaction90%PCDH11XProtein interaction85%
Tissue Expression6 tissues
Heart
0%
Brain
0%
Bone Marrow
0%
Ovary
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
AMELYUSP9YSRYUTYTMSB4YTBL1YPCDH11X
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q99218
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
2.19LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.96 [0.47–2.19]
RankingsWhere AMELY stands among ~20K protein-coding genes
  • #14,631of 20,598
    Most Researched18
  • #17,850of 17,882
    Most Constrained (LOEUF)2.19
Genes detectedAMELY
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
How does dental implant macrogeometry affect primary implant stability? A narrative review.
PMID: 37405709
Int J Implant Dent · 2023
1.00
2
[Ocular syphilis].
PMID: 33161392
Orv Hetil · 2020
0.90
3
Activated amelogenin Y-linked (AMELY) regulation and angiogenesis in human hepatocellular carcinoma by biocomputation.
PMID: 23426651
Oncol Lett · 2013
0.80
4
Mosaic loss of Y chromosome in monocytes is associated with lower survival after transcatheter aortic valve replacement.
PMID: 36932691
Eur Heart J · 2023
0.70
5
[Corona vaccine review].
PMID: 33611263
Orv Hetil · 2021
0.60