ENAM (enamelin)

2014-11-01  

Identity

HGNC
ENAM
LOCATION
4q13.3
LOCUSID
10117
ALIAS
ADAI,AI1C,AIH2

Other Information

Locus ID:

NCBI: 10117
MIM: 606585
HGNC: 3344
Ensembl: ENSG00000132464

Variants:

dbSNP: 10117
ClinVar: 10117
TCGA: ENSG00000132464
COSMIC: ENAM

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132464ENST00000396073Q9NRM1
ENSG00000132464ENST00000472597A0A3B3ITB9

Expression (GTEx)

0
1
2
3
4
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
386426062024Genetic variations in exon 10 of ENAM and their association with early childhood caries.0
386426062024Genetic variations in exon 10 of ENAM and their association with early childhood caries.0
379859772023Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.0
379859772023Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.0
338643202022A novel ENAM mutation causes hypoplastic amelogenesis imperfecta.4
338643202022A novel ENAM mutation causes hypoplastic amelogenesis imperfecta.4
335393222021ENAM gene associated with T classification and inhibits proliferation in renal clear cell carcinoma.7
335393222021ENAM gene associated with T classification and inhibits proliferation in renal clear cell carcinoma.7
321782652020ENAM Gene Variation in Students Exposed to Different Fluoride Concentrations.6
321782652020ENAM Gene Variation in Students Exposed to Different Fluoride Concentrations.6
314783592019ENAM mutations and digenic inheritance.8
314783592019ENAM mutations and digenic inheritance.8
291851462018Lack of association between ENAM gene polymorphism and dental caries in primary and permanent teeth in Czech children.10
295544352018Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations.6
291851462018Lack of association between ENAM gene polymorphism and dental caries in primary and permanent teeth in Czech children.10

Citation

Dessen P

ENAM (enamelin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62829/js/lib/gene-fusions-explorer/welcome