AMELX (amelogenin X-linked)

2007-04-01  

Identity

HGNC
AMELX
LOCATION
Xp22.2
LOCUSID
265
ALIAS
AI1E,AIH1,ALGN,AMG,AMGL,AMGX

Other Information

Locus ID:

NCBI: 265
MIM: 300391
HGNC: 461
Ensembl: ENSG00000125363

Variants:

dbSNP: 265
ClinVar: 265
TCGA: ENSG00000125363
COSMIC: AMELX

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125363ENST00000348912Q99217
ENSG00000125363ENST00000380712Q99217
ENSG00000125363ENST00000380714Q99217

Expression (GTEx)

0
1
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 IDYearTitleCitations
384095762024AMELX gene association to early childhood caries in south-Indian children: a case-control study.0
388923212024AMELX Mutations and Genotype-Phenotype Correlation in X-Linked Amelogenesis Imperfecta.0
384095762024AMELX gene association to early childhood caries in south-Indian children: a case-control study.0
388923212024AMELX Mutations and Genotype-Phenotype Correlation in X-Linked Amelogenesis Imperfecta.0
375638012023Mutations Causing X-Linked Amelogenesis Imperfecta Alter miRNA Formation from Amelogenin Exon4.0
379859772023Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.0
375638012023Mutations Causing X-Linked Amelogenesis Imperfecta Alter miRNA Formation from Amelogenin Exon4.0
379859772023Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.0
358860552022An Intron c.103-3T>C Variant of the AMELX Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: Case Series and Review of the Literature.3
358860552022An Intron c.103-3T>C Variant of the AMELX Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: Case Series and Review of the Literature.3
318382952020DNA sequencing reveals AMELX, ODAM and MMP20 variations in dental fluorosis.5
318382952020DNA sequencing reveals AMELX, ODAM and MMP20 variations in dental fluorosis.5
311851862019A Novel AMELX Mutation, Its Phenotypic Features, and Skewed X Inactivation.6
311851862019A Novel AMELX Mutation, Its Phenotypic Features, and Skewed X Inactivation.6
283824652018Significance of genetic variations in developmental enamel defects of primary dentition in Polish children.7

Citation

Dessen P

AMELX (amelogenin X-linked)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46794/haematological-explorer/tumors-explorer/js/lib/popper.js