AMELX (amelogenin X-linked)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 265
Gene name Amelogenin X-linked
Gene symbol AMELX
Synonyms (NCBI Gene)
AI1EAIH1ALGNAMGAMGLAMGX
Chromosome X
Chromosome location Xp22.2
Summary This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing result
miRNA miRNA information provided by mirtarbase database.
2
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
miRTarBase ID miRNA Experiments Reference
MIRT048030 hsa-miR-148a-3p CLASH 23622248
MIRT044727 hsa-miR-320a CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
50
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (50)
GO ID Ontology Definition Evidence Reference
GO:0001649 Process Osteoblast differentiation ISS 1734713
GO:0001837 Process Epithelial to mesenchymal transition ISS 1734713
GO:0002062 Process Chondrocyte differentiation ISS 1734713
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 18434575
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300391 461 ENSG00000125363
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99217
Protein name Amelogenin, X isoform
Protein function Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stage of tooth enamel development. Thought to play a major role in the structural organization and mineralization of developing enamel.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02948 Amelogenin 21 → 191 Family
Sequence
Sequence length 191
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene 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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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 (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Amelogenesis imperfecta Pathogenic rs1603038146 RCV000789003
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis imperfecta type 1E Likely pathogenic; Pathogenic rs2147573600, rs2518744193, rs387906487, rs387906488, rs387906489, rs104894733, rs104894734, rs104894736, rs387906490, rs387906491, rs104894737, rs104894738 RCV001785917
RCV003154644
RCV000011887
RCV000011888
RCV000011889
View all (7 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
AMELX-related disorder Pathogenic rs104894736 RCV004757103
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (9)
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.
Phenotype Name Clinical Significance Source Evidence Score
AMELOGENESIS IMPERFECTA HYPOMATURATION TYPE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA TYPE 2 — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, HYPOPLASTIC-HYPOMATURATION, X-LINKED 1 — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (66)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 25484061, 30745297
★★★★★
★☆☆☆☆
Found in Text Mining only
alpha 1-Antitrypsin Deficiency Alpha 1-Antitrypsin Deficiency BEFREE 30666511
★★★★★
★☆☆☆☆
Found in Text Mining only
Ameloblastoma Ameloblastoma BEFREE 15979380
★★★★★
★☆☆☆☆
Found in Text Mining only
Amelogenesis Imperfecta Amelogenesis imperfecta LHGDN 11839357, 11877393
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis Imperfecta Amelogenesis imperfecta BEFREE 11922869, 12952177, 1358807, 15111628, 20938048, 21597265, 22243263, 23251683, 30838594, 7599636, 9083938
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis Imperfecta Amelogenesis imperfecta Pubtator 19530186, 20938048, 21597265, 22243262, 31999931, 35886055, 37985977 Associate
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis Imperfecta Amelogenesis imperfecta HPO_DG
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis Imperfecta hypomaturation type Amelogenesis Imperfecta ORPHANET_DG 23251683
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amelogenesis imperfecta local hypoplastic form Amelogenesis imperfecta Pubtator 37985977 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth Amelogenesis Imperfecta UNIPROT_DG 10669095, 15111628, 7599636, 7782077, 9188994
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations