AMTN (amelotin)

2014-11-01  

Identity

HGNC
AMTN
LOCATION
4q13.3
LOCUSID
401138
ALIAS
AI3B,UNQ689
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 401138
MIM: 610912
HGNC: 33188
Ensembl: ENSG00000187689

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187689ENST00000339336Q6UX39
ENSG00000187689ENST00000339336F1T0L8
ENSG00000187689ENST00000504451Q6UX39

Expression (GTEx)

0
1
2
3
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
N/A

References

Pubmed IDYearTitleCitations
321609612020Amelotin is expressed in retinal pigment epithelium and localizes to hydroxyapatite deposits in dry age-related macular degeneration.3
321609612020Amelotin is expressed in retinal pigment epithelium and localizes to hydroxyapatite deposits in dry age-related macular degeneration.3
292824782018Tumor necrosis factor-α stimulates human amelotin gene transcription in gingival epithelial cells.3
292824782018Tumor necrosis factor-α stimulates human amelotin gene transcription in gingival epithelial cells.3
266209682016Maturation stage enamel malformations in Amtn and Klk4 null mice.18
274120082016Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta.18
266209682016Maturation stage enamel malformations in Amtn and Klk4 null mice.18
274120082016Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta.18
254077972015The enamel protein amelotin is a promoter of hydroxyapatite mineralization.29
254077972015The enamel protein amelotin is a promoter of hydroxyapatite mineralization.29
251581732014Transcriptional regulation of amelotin gene by proinflammatory cytokines in gingival fibroblasts.3
251581732014Transcriptional regulation of amelotin gene by proinflammatory cytokines in gingival fibroblasts.3

Citation

Dessen P

AMTN (amelotin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60280/cancer-prone-explorer/css/welcome