AMTN (amelotin)

2014-11-01 Affiliation

Identity

HGNC

AMTN

LOCATION

4q13.3

LOCUSID

401138

ALIAS

AI3B,UNQ689

FUSION GENES

Show Gene Fusions

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: 401138
MIM: 610912
HGNC: 33188
Ensembl: ENSG00000187689

Variants:

dbSNP: 401138
ClinVar: 401138
TCGA: ENSG00000187689
COSMIC: AMTN

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000187689	ENST00000339336	Q6UX39
ENSG00000187689	ENST00000339336	F1T0L8
ENSG00000187689	ENST00000504451	Q6UX39

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

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
26620968	2016	Maturation stage enamel malformations in Amtn and Klk4 null mice.	8
29282478	2018	Tumor necrosis factor-α stimulates human amelotin gene transcription in gingival epithelial cells.	3
25158173	2014	Transcriptional regulation of amelotin gene by proinflammatory cytokines in gingival fibroblasts.	0
25407797	2015	The enamel protein amelotin is a promoter of hydroxyapatite mineralization.	0
27412008	2016	Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta.	0

Citation

Dessen P

AMTN (amelotin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60280/amtn-(amelotin)