Property Summary

NCBI Gene PubMed Count 29
Grant Count 96
R01 Count 62
Funding $7,142,987.23
PubMed Score 186.15
PubTator Score 116.60

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
medulloblastoma, large-cell 1.400 0.001
ovarian cancer 1.300 0.000

Synonym

Accession Q9NRM1 Q17RI5 Q9H3D1
Symbols ADAI
AI1C
AIH2

Gene

Gene RIF (20)

PMID Text
25791822 Overrepresentation of the G allele of the enamelin marker was seen in the erosion group compared to the unaffected group.
25769099 Screening of ENAM and LAMB3 genes was performed by direct sequencing of genomic DNA from blood samples.
25427323 findings provide useful information for the implication of ENAM gene polymorphism in autosomal-dominant/-recessive amelogenesis imperfecta.
25143514 Whole-exome sequencing identified 2 novel heterozygous nonsense mutations in the ENAM gene (c.454G>T p.Glu152* in family 1, c.358C>T p.Gln120* in family 2) in the probands. Affected individuals were heterozygous for the mutation in each family.
24487377 2 exonic SNPs, both changing an amino acid in protein region encoded by exon 10 (p.I648T and p.R763Q), increased caries susceptibility 2.66-fold. findings support ENAM as gene candidate for caries susceptibility.
23790503 Associations between TFIP11 (p=0.02), ENAM (p=0.00001), and AMELX (p=0.01) could be seen with caries independent of having MIH or genomic DNA copies of Streptococcus mutans detected by real time PCR in the Brazilian sample.
22414746 Mutations in FAM83H and ENAM and related phenotypes were observed in Chinese families with amelogenesis imperfecta.
21504268 hypocalcified amelogenesis imperfecta, Witkop type III, was unrelated to previously described mutations in the ENAM or MMP-20 genes
19923784 The structure and composition of deciduous enamel affected by local hypoplastic autosomal dominant amelogenesis imperfecta resulting from an ENAM mutation
19329462 Analysis revealed 2 ENAM mutations (autosomal-dominant g.14917delT and autosomal-recessive g.13185-13186insAG mutations). Single T deletion in exon 10 is a novel deletion mutation(g.14917delT, c.2991delT)predicted to result in premature termination codon.
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AA Sequence

MLVLRCRLGTSFPKLDNLVPKGKMKILLVFLGLLGNSVAMPMHMPRMPGFSSKSEEMMRYNQFNFMNGPH      1 - 70
MAHLGPFFGNGLPQQFPQYQMPMWPQPPPNTWHPRKSSAPKRHNKTDQTQETQKPNQTQSKKPPQKRPLK     71 - 140
QPSHNQPQPEEEAQPPQAFPPFGNGLFPYQQPPWQIPQRLPPPGYGRPPISNEEGGNPYFGYFGYHGFGG    141 - 210
RPPYYSEEMFEQDFEKPKEEDPPKAESPGTEPTANSTVTETNSTQPNPKGSQGGNDTSPTGNSTPGLNTG    211 - 280
NNPPAQNGIGPLPAVNASGQGGPGSQIPWRPSQPNIRENHPYPNIRNFPSGRQWYFTGTVMGHRQNRPFY    281 - 350
RNQQVQRGPRWNFFAWERKQVARPGNPVYHKAYPPTSRGNYPNYAGNPANLRRKPQGPNKHPVGTTVAPL    351 - 420
GPKPGPVVRNEKIQNPKEKPLGPKEQIIVPTKNPTSPWRNSQQYEVNKSNYKLPHSEGYMPVPNFNSVDQ    421 - 490
HENSYYPRGDSRKVPNSDGQTQSQNLPKGIVLGSRRMPYESETNQSELKHSSYQPAVYPEEIPSPAKEHF    491 - 560
PAGRNTWDHQEISPPFKEDPGRQEEHLPHPSHGSRGSVFYPEYNPYDPRENSPYLRGNTWDERDDSPNTM    561 - 630
GQKESPLYPINTPDQKEIVPYNEEDPVDPTGDEVFPGQNRWGEELSFKGGPTVRHYEGEQYTSNQPKEYL    631 - 700
PYSLDNPSKPREDFYYSEFYPWSPDENFPSYNTASTMPPPIESRGYYVNNAAGPEESTLFPSRNSWDHRI    701 - 770
QAQGQRERRPYFNRNIWDQATHLQKAPARPPDQKGNQPYYSNTPAGLQKNPIWHEGENLNYGMQITRMNS    771 - 840
PEREHSSFPNFIPPSYPSGQKEAHLFHLSQRGSCCAGSSTGPKDNPLALQDYTPSYGLAPGENQDTSPLY    841 - 910
TDGSHTKQTRDIISPTSILPGQRNSSEKRESQNPFRDDVSTLRRNTPCSIKNQLGQKEIMPFPEASSLQS    911 - 980
KNTPCLKNDLGGDGNNILEQVFEDNQLNERTVDLTPEQLVIGTPDEGSNPEGIQSQVQENESERQQQRPS    981 - 1050
NILHLPCFGSKLAKHHSSTTGTPSSDGRQSPFDGDSITPTENPNTLVELATEEQFKSINVDPLDADEHSP   1051 - 1120
FEFLQRGTNVQDQVQDCLLLQA                                                   1121 - 1142
//

Text Mined References (31)

PMID Year Title
25791822 2015 Enamel formation genes associated with dental erosive wear.
25789606 2015 A secretory kinase complex regulates extracellular protein phosphorylation.
25769099 2015 Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfecta.
25427323 2011 Enamelin/ameloblastin gene polymorphisms in autosomal amelogenesis imperfecta among Syrian families.
25143514 2014 ENAM mutations with incomplete penetrance.
24487377 2014 Dental caries and enamelin haplotype.
23790503 2013 Genes expressed in dental enamel development are associated with molar-incisor hypomineralization.
22414746 2012 Molecular characterization of amelogenesis imperfecta in Chinese patients.
21504268 2012 A multidisciplinary approach for the diagnosis of hypocalcified amelogenesis imperfecta in two Chilean families.
20439930 2010 Altered enamelin phosphorylation site causes amelogenesis imperfecta.
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