AMELY (amelogenin Y-linked)

2014-11-01 Affiliation

Identity

HGNC

AMELY

LOCATION

Yp11.2

LOCUSID

266

ALIAS

AMGL,AMGY

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 266
MIM: 410000
HGNC: 462
Ensembl: ENSG00000099721

Variants:

dbSNP: 266
ClinVar: 266
TCGA: ENSG00000099721
COSMIC: AMELY

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000099721	ENST00000215479	Q99218
ENSG00000099721	ENST00000383036	Q99218
ENSG00000099721	ENST00000651267	Q99218

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

References

Pubmed ID	Year	Title	Citations
17189292	2007	Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y.	29
23948316	2013	Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization.	3
17588179	2007	Molecular characterization of a polymorphic 3-Mb deletion at chromosome Yp11.2 containing the AMELY locus in Singapore and Malaysia populations.	2
22669323	2012	Y chromosome interstitial deletion induced Y-STR allele dropout in AMELY-negative individuals.	2
23623014	2013	Mutation rate at 17 Y-STR loci in "Father/Son" pairs from moroccan population.	1
18067069	2007	[Types and frequencies of variants in Amelogenin gene in Chinese population].	0
28828942	2016	Y-Chromosome Haplogroups in the Bosnian-Herzegovinian Population Based on 23 Y-STR Loci.	0

Citation

Dessen P

AMELY (amelogenin Y-linked)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60271/amely