ENAM (enamelin)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10117
Gene name Gene Name - the full gene name approved by the HGNC.
Enamelin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ENAM
Synonyms (NCBI Gene) Gene synonyms aliases
ADAI, AI1C, AIH2
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q13.3
Summary Summary of gene provided in NCBI Entrez Gene.
Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene encodes the largest protein in the enamel matrix of developing teeth. The protein is involved in the mineralization and structural organization of enam
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(8)
SNP ID Visualize variation Clinical significance Consequence
rs121908109 A>G,T Pathogenic Missense variant, genic upstream transcript variant, coding sequence variant, stop gained
rs529979202 T>- Pathogenic Coding sequence variant, frameshift variant
rs587776587 G>A Pathogenic Splice donor variant, upstream transcript variant, genic upstream transcript variant
rs587776588 ->AG Pathogenic-likely-pathogenic, pathogenic Frameshift variant, coding sequence variant
rs752102959 ->G Pathogenic Splice donor variant, coding sequence variant, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(68)
miRTarBase ID miRNA Experiments Reference
MIRT443060 hsa-miR-4717-5p PAR-CLIP 22100165
MIRT443059 hsa-miR-15a-3p PAR-CLIP 22100165
MIRT443058 hsa-miR-1295b-3p PAR-CLIP 22100165
MIRT443057 hsa-miR-488-5p PAR-CLIP 22100165
MIRT443056 hsa-miR-5704 PAR-CLIP 22100165
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25789606
GO:0005576 Component Extracellular region IEA
GO:0005788 Component Endoplasmic reticulum lumen TAS
GO:0030345 Function Structural constituent of tooth enamel IBA
GO:0031012 Component Extracellular matrix IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606585 3344 ENSG00000132464
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9NRM1
Protein name Enamelin
Protein function Involved in the mineralization and structural organization of enamel. Involved in the extension of enamel during the secretory stage of dental enamel formation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15362 Enamelin 213 → 1114 Enamelin Family
Tissue specificity TISSUE SPECIFICITY: Expressed in tooth particularly in odontoblast, ameloblast and cementoblast. {ECO:0000269|PubMed:11487571}.
Sequence 
MLVLRCRLGTSFPKLDNLVPKGKMKILLVFLGLLGNSVAMPMHMPRMPGFSSKSEEMMRY
NQFNFMNGPHMAHLGPFFGNGLPQQFPQYQMPMWPQPPPNTWHPRKSSAPKRHNKTDQTQ
ETQKPNQTQSKKPPQKRPLKQPSHNQPQPEEEAQPPQAFPPFGNGLFPYQQPPWQIPQRL
PPPGYGRPPISNEEGGNPYFGYFGYHGFGGRPPYYSEEMFEQDFEKPKEEDPPKAESPGT
EPTANSTVTETNSTQPNPKGSQGGNDTSPTGNSTPGLNTGNNPPAQNGIGPLPAVNASGQ
GGPGSQIPWRPSQPNIRENHPYPNIRNFPSGRQWYFTGTVMGHRQNRPFYRNQQVQRGPR
WNFFAWERKQVARPGNPVYHKAYPPTSRGNYPNYAGNPANLRRKPQGPNKHPVGTTVAPL
GPKPGPVVRNEKIQNPKEKPLGPKEQIIVPTKNPTSPWRNSQQYEVNKSNYKLPHSEGYM
PVPNFNSVDQHENSYYPRGDSRKVPNSDGQTQSQNLPKGIVLGSRRMPYESETNQSELKH
SSYQPAVYPEEIPSPAKEHFPAGRNTWDHQEISPPFKEDPGRQEEHLPHPSHGSRGSVFY
PEYNPYDPRENSPYLRGNTWDERDDSPNTMGQKESPLYPINTPDQKEIVPYNEEDPVDPT
GDEVFPGQNRWGEELSFKGGPTVRHYEGEQYTSNQPKEYLPYSLDNPSKPREDFYYSEFY
PWSPDENFPSYNTASTMPPPIESRGYYVNNAAGPEESTLFPSRNSWDHRIQAQGQRERRP
YFNRNIWDQATHLQKAPARPPDQKGNQPYYSNTPAGLQKNPIWHEGENLNYGMQITRMNS
PEREHSSFPNFIPPSYPSGQKEAHLFHLSQRGSCCAGSSTGPKDNPLALQDYTPSYGLAP
GENQDTSPLYTDGSHTKQTRDIISPTSILPGQRNSSEKRESQNPFRDDVSTLRRNTPCSI
KNQLGQKEIMPFPEASSLQSKNTPCLKNDLGGDGNNILEQVFEDNQLNERTVDLTPEQLV
IGTPDEGSNPEGIQSQVQENESERQQQRPSNILHLPCFGSKLAKHHSSTTGTPSSDGRQS
PFDGDSITPTENPNTLVELATEEQFKSINVDPLDADEHSPFEFLQRGTNVQDQVQDCLLL
QA
Sequence length 1142
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Amelogenesis imperfecta Amelogenesis imperfecta type 1C, Amelogenesis imperfecta - hypoplastic autosomal dominant - local rs1553888384, rs1553887511, rs587776587, rs121908109, rs587776588, rs1060499539, rs752102959 N/A
Show/Hide Text Mining Associations (15)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Amelogenesis Imperfecta Associate 14684688, 16246937, 19530186, 20298654, 20938048, 21597265, 22243262, 25143514, 25769099, 29554435, 31478359, 37985977, 39273410
Amelogenesis imperfecta local hypoplastic form Associate 14684688, 16246937, 20298654, 25143514, 25769099, 29554435, 37985977
Burnett Schwartz Berberian syndrome Associate 37985977
Carcinoma Renal Cell Associate 28349958, 32789468, 33539322
Dental Caries Associate 26910531, 30803280
Dental Enamel Hypoplasia Associate 14684688, 29554435, 31478359
Developmental Defects of Enamel Associate 14684688, 25769099
Ectrodactyly Ectodermal Dysplasia And Cleft Lip Palate Syndrome 1 Associate 25531160
Failure of Tooth Eruption Primary Associate 14684688
Fluorosis Dental Associate 32178265