Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10117
Gene name	Enamelin
Gene symbol	ENAM
Synonyms (NCBI Gene)	ADAIAI1CAIH2
Chromosome	4
Chromosome location	4q13.3
Summary	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

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
rs1060499539	T>G	Pathogenic-likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1553887511	T>G	Pathogenic	Splice donor variant, genic upstream transcript variant
rs1553888384	C>G	Pathogenic	Stop gained, coding sequence variant

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
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
MIRT963186	hsa-miR-1185	CLIP-seq
MIRT963187	hsa-miR-3159	CLIP-seq
MIRT963188	hsa-miR-3605-5p	CLIP-seq
MIRT963189	hsa-miR-3618	CLIP-seq
MIRT963190	hsa-miR-3679-5p	CLIP-seq
MIRT963191	hsa-miR-4302	CLIP-seq
MIRT963192	hsa-miR-450b-5p	CLIP-seq
MIRT963193	hsa-miR-4693-3p	CLIP-seq
MIRT963194	hsa-miR-4797-5p	CLIP-seq
MIRT963195	hsa-miR-507	CLIP-seq
MIRT963196	hsa-miR-548aa	CLIP-seq
MIRT963197	hsa-miR-548ac	CLIP-seq
MIRT963198	hsa-miR-548d-3p	CLIP-seq
MIRT963199	hsa-miR-548z	CLIP-seq
MIRT963200	hsa-miR-557	CLIP-seq
MIRT963201	hsa-miR-934	CLIP-seq
MIRT963189	hsa-miR-3618	CLIP-seq
MIRT963191	hsa-miR-4302	CLIP-seq
MIRT1985504	hsa-miR-4426	CLIP-seq
MIRT1985505	hsa-miR-4647	CLIP-seq
MIRT1985506	hsa-miR-4662b	CLIP-seq
MIRT1985507	hsa-miR-548p	CLIP-seq
MIRT963201	hsa-miR-934	CLIP-seq
MIRT2220011	hsa-miR-1270	CLIP-seq
MIRT2220012	hsa-miR-185	CLIP-seq
MIRT963189	hsa-miR-3618	CLIP-seq
MIRT2220013	hsa-miR-3681	CLIP-seq
MIRT963191	hsa-miR-4302	CLIP-seq
MIRT2220014	hsa-miR-4306	CLIP-seq
MIRT2220015	hsa-miR-4531	CLIP-seq
MIRT2220016	hsa-miR-4644	CLIP-seq
MIRT963193	hsa-miR-4693-3p	CLIP-seq
MIRT2220017	hsa-miR-620	CLIP-seq
MIRT963201	hsa-miR-934	CLIP-seq
MIRT2387395	hsa-miR-3130-3p	CLIP-seq
MIRT2387396	hsa-miR-3140-3p	CLIP-seq
MIRT2387397	hsa-miR-3974	CLIP-seq
MIRT2387398	hsa-miR-4477b	CLIP-seq
MIRT2387399	hsa-miR-4527	CLIP-seq
MIRT2387400	hsa-miR-4793-3p	CLIP-seq
MIRT2387401	hsa-miR-548ag	CLIP-seq
MIRT2387402	hsa-miR-548ai	CLIP-seq
MIRT2448826	hsa-miR-3074-5p	CLIP-seq
MIRT2448827	hsa-miR-3672	CLIP-seq
MIRT2448828	hsa-miR-370	CLIP-seq
MIRT2448829	hsa-miR-4251	CLIP-seq
MIRT2448830	hsa-miR-4303	CLIP-seq
MIRT2448831	hsa-miR-4329	CLIP-seq
MIRT2523790	hsa-miR-1539	CLIP-seq
MIRT2523791	hsa-miR-219-2-3p	CLIP-seq
MIRT2523792	hsa-miR-2964a-3p	CLIP-seq
MIRT2523793	hsa-miR-3185	CLIP-seq
MIRT2523794	hsa-miR-3193	CLIP-seq
MIRT2523795	hsa-miR-34a	CLIP-seq
MIRT2523796	hsa-miR-34c-5p	CLIP-seq
MIRT2523797	hsa-miR-449a	CLIP-seq
MIRT2523798	hsa-miR-449b	CLIP-seq
MIRT2523799	hsa-miR-544	CLIP-seq

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
GO:0031214	Process	Biomineral tissue development	IEA
GO:0036305	Process	Ameloblast differentiation	IBA
GO:0070175	Process	Positive regulation of enamel mineralization	IBA
GO:0097186	Process	Amelogenesis	IBA

MIM	HGNC	e!Ensembl
606585	3344	ENSG00000132464

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

	Reactome
			Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Amelogenesis imperfecta	Pathogenic	rs2109817825	RCV001615152	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis imperfecta - hypoplastic autosomal dominant - local	Pathogenic; Likely pathogenic	rs752102959, rs587776587, rs121908109, rs587776588, rs1738612312, rs1060499539, rs529979202, rs1553887511	RCV001554271 RCV000004458 RCV000004459 RCV000144087 RCV003154643 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Amelogenesis imperfecta type 1C	Likely pathogenic; Pathogenic	rs587776588, rs529979202, rs1553888384	RCV000004460 RCV005355923 RCV000578483	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ENAM-related disorder	Pathogenic; Likely pathogenic	rs752102959, rs587776588, rs1442845757	RCV003394139 RCV003407274 RCV003399631	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA LOCAL HYPOPLASTIC FORM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA TYPE 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA TYPE 1B	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta, Dominant	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, TYPE IB	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, TYPE IC	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTIN DYSPLASIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTINOGENESIS IMPERFECTA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (35)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Ameloblastoma	Ameloblastoma	BEFREE	11062999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta	Amelogenesis imperfecta	BEFREE	10831092, 11037750, 11379892, 11978766, 12407086, 14684688, 15649948, 15723871, 16304440, 16324133, 16420275, 17125728, 17316551, 17408482, 18466877 View all (15 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis Imperfecta	Amelogenesis imperfecta	LHGDN	11978766, 14684688		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis Imperfecta	Amelogenesis imperfecta	Pubtator	14684688, 16246937, 19530186, 20298654, 20938048, 21597265, 22243262, 25143514, 25769099, 29554435, 31478359, 37985977, 39273410	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis Imperfecta	Amelogenesis imperfecta	CTD_human_DG	15649948, 17652207		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis Imperfecta	Amelogenesis imperfecta	CLINVAR_DG	28334996		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis Imperfecta	Amelogenesis imperfecta	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis imperfecta local hypoplastic form	Amelogenesis Imperfecta	BEFREE	11037750, 16246937, 21068190, 25769099		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis imperfecta local hypoplastic form	Amelogenesis Imperfecta	ORPHANET_DG	11978766, 14684688		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis imperfecta local hypoplastic form	Amelogenesis imperfecta	Pubtator	14684688, 16246937, 20298654, 25143514, 25769099, 29554435, 37985977	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta, Type IB	Amelogenesis Imperfecta	UNIPROT_DG	11487571, 11978766, 20439930, 25789606		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta, Type IB	Amelogenesis Imperfecta	BEFREE	11978766		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta, Type IB	Amelogenesis Imperfecta	GENOMICS_ENGLAND_DG	28334996		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta, Type IB	Amelogenesis Imperfecta	CLINVAR_DG	28334996		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta, Type IB	Amelogenesis Imperfecta	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta, Type Ic	Amelogenesis imperfecta	CLINVAR_DG	14684688, 21597265		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta, Type Ic	Amelogenesis imperfecta	UNIPROT_DG	14684688, 20439930, 25789606		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta, Type Ic	Amelogenesis imperfecta	GENOMICS_ENGLAND_DG	28334996		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta, Type Ic	Amelogenesis imperfecta	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	21068190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	18223493		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	10540193, 18223493, 29112085, 29356770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Burnett Schwartz Berberian syndrome	Burnett schwartz berberian syndrome	Pubtator	37985977	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	28349958, 32789468, 33539322	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	10728804		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	26910531, 30803280	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dental Diseases	Dental Diseases	BEFREE	28902892		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental enamel hypoplasia	Pubtator	14684688, 29554435, 31478359	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	BEFREE	15723871, 26912218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary gingival fibromatosis	Hereditary Gingival Fibromatosis	BEFREE	22532955		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypomineralization of enamel of tooth	Hypomineralization Of Enamel Of Tooth	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplastic amelogenesis imperfecta	Hypoplastic Amelogenesis Imperfecta	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	10728804		★★★★★ ★☆☆☆☆ Found in Text Mining only
Odontogenic Tumors	Odontogenic Tumor	BEFREE	11062999, 19648121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van der woude syndrome	Pubtator	14684688, 16246937	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ENAM (enamelin)