AMELY amelogenin Y-linked [Homo sapiens (human)] - Gene

Summary

Official Symbol: AMELYprovided by HGNC
Official Full Name: amelogenin Y-linkedprovided by HGNC
Primary source: HGNC:HGNC:462
See related: Ensembl:ENSG00000099721 MIM:410000; AllianceGenome:HGNC:462
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AMGL; AMGY
Summary: 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]
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: Yp11.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	Y	NC_000024.10 (6865918..6911752, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	Y	NC_060948.1 (6518242..6564080, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	Y	NC_000024.9 (6733959..6779793, complement)

Chromosome Y - NC_000024.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Optimization of Method for Human Sex Determination Using Peptidome Analysis of Teeth Enamel from Teeth of Different Biological Generation, Archeological Age, and Degrees of Taphonomic Preservation.
Title: Optimization of Method for Human Sex Determination Using Peptidome Analysis of Teeth Enamel from Teeth of Different Biological Generation, Archeological Age, and Degrees of Taphonomic Preservation.
Finally, since these results are almost completely in accordance with previously published data on B&H and neighboring populations generated by Y-chromosome single nucleotide polymorphism analysis, it can be concluded that in silico analysis of Y-STRs is a reliable method for approximation of the Y-chromosome haplogroup diversity of an examined population.
Title: Y-Chromosome Haplogroups in the Bosnian-Herzegovinian Population Based on 23 Y-STR Loci.
demonstrate the presence of copy number variations in regions containing 9 of the 13 CODIS(Combined DNA Index System) short tandem repeat(STR) and AMELX/Y loci
Title: Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization.
252 confirmed and unrelated father/son pairs from the Moroccan population were examined using 17 Y-STR markers of the AmpFISTR Yfiler kit. A total of 15 single repeat mutations between fathers and sons were observed as mutational events.
Title: Mutation rate at 17 Y-STR loci in "Father/Son" pairs from moroccan population.
Results of haplogroup prediction showed that seven AMELY dropouts combined with variant Y-STR deletions can be classified as the J2 subdivision, suggesting that some of these Y chromosomes might descend from a common ancestor.
Title: Y chromosome interstitial deletion induced Y-STR allele dropout in AMELY-negative individuals.
The combined frequency of the AMELY null allele in Singapore and Malaysia populations is 2.7%, 0.6% in Indian and Malay ethnic groups respectively. It is absent among 541 Chinese screened.
Title: Molecular characterization of a polymorphic 3-Mb deletion at chromosome Yp11.2 containing the AMELY locus in Singapore and Malaysia populations.
Observational study of genotype prevalence. (HuGE Navigator)
Title: [Types and frequencies of variants in Amelogenin gene in Chinese population].
Multigene deletions encompassing AMELY on short arm of chromosome Y.
Title: Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-36989 (e-PCR)
- UniSTS:43300

NoName (e-PCR)
- UniSTS:482093

G42692 (e-PCR)
- UniSTS:140879

GDB:574132 (e-PCR)
- UniSTS:157807

NoName (e-PCR)
- UniSTS:486595

G38362 (e-PCR)
- UniSTS:32711

AMELX (e-PCR)
- UniSTS:277964

SHGC-5464 (e-PCR)
- UniSTS:14286

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables structural constituent of tooth enamel	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of tooth enamel	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in enamel mineralization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in collagen-containing extracellular matrix	IC Inferred by Curator more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: amelogenin, Y isoform

Names: amelogenin (Y chromosome)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008011.2 RefSeqGene

Range

5000..50834

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001143.2 → NP_001134.1 amelogenin, Y isoform isoform 1 precursor

See identical proteins and their annotated locations for NP_001134.1

Status: REVIEWED

Source sequence(s)

AC011297, AC013412, M86933

Consensus CDS

CCDS14778.1

UniProtKB/Swiss-Prot

Q99218

Related

ENSP00000498344.1, ENST00000651267.2

Conserved Domains (1) summary

smart00818
Location:28 → 192

Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth
NM_001364814.1 → NP_001351743.1 amelogenin, Y isoform isoform 2 precursor

Status: REVIEWED

Source sequence(s)

AY487421, M86933

Consensus CDS

CCDS94708.1

UniProtKB/Swiss-Prot

Q6RWT1, Q99218

Related

ENSP00000372505.1, ENST00000383036.1

Conserved Domains (1) summary

smart00818
Location:28 → 206

Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth