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Aliases for AMBN Gene

Aliases for AMBN Gene

  • Ameloblastin 2 3 3 5
  • Enamel Matrix Protein 2 3
  • Ameloblastin (Enamel Matrix Protein) 2
  • Ameloblastin, Enamel Matrix Protein 2
  • AI1F 3

External Ids for AMBN Gene

Previous GeneCards Identifiers for AMBN Gene

  • GC04U990004
  • GC04P071506
  • GC04M9L0081
  • GC04P071774
  • GC04P071638
  • GC04P071457
  • GC04P067260

Summaries for AMBN Gene

Entrez Gene Summary for AMBN Gene

  • This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster on chromosome 4. Mutations in this gene may be associated with dentinogenesis imperfect and autosomal dominant amylogenesis imperfect. [provided by RefSeq, Aug 2011]

GeneCards Summary for AMBN Gene

AMBN (Ameloblastin) is a Protein Coding gene. Diseases associated with AMBN include Amelogenesis Imperfecta, Type If and Hypoplastic Amelogenesis Imperfecta. Gene Ontology (GO) annotations related to this gene include growth factor activity and structural constituent of tooth enamel.

UniProtKB/Swiss-Prot for AMBN Gene

  • Involved in the mineralization and structural organization of enamel.

Additional gene information for AMBN Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AMBN Gene

Genomics for AMBN Gene

GeneHancer (GH) Regulatory Elements for AMBN Gene

Promoters and enhancers for AMBN Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J070592 Promoter 0.8 EPDnew 650.7 0.0 -19 0.1 ZNF362 PRDM6 PRDM4 ZNF843 SP7 AMBN AMTN
GH04J070584 Enhancer 0.8 ENCODE 0.4 -7.5 -7517 0.1 ZNF335 ZNF366 SCRT2 FOS SP3 ZEB2 ZNF518A ZNF843 ZFP69B MAFF AMBN AMTN
GH04J070601 Enhancer 0.7 ENCODE 0.4 +9.4 9363 0.2 ELF3 CTCF EBF1 BMI1 RAD21 RELA CC2D1A GATA3 ARID2 ZNF143 AMBN ENAM
GH04J070613 Enhancer 0.6 Ensembl 0.3 +21.6 21645 0.6 ZNF335 ZNF316 ZNF189 IKZF1 MAFG PRDM10 MAFK EMSY ZBTB17 TRIM28 JCHAIN UTP3 ENAM AMBN
GH04J070558 Enhancer 0.4 Ensembl 0.3 -33.8 -33755 0.2 ZNF512 PRDM1 AMBN AMTN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AMBN on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AMBN gene promoter:

Genomic Locations for AMBN Gene

Genomic Locations for AMBN Gene
15,033 bases
Plus strand

Genomic View for AMBN Gene

Genes around AMBN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AMBN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AMBN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AMBN Gene

Proteins for AMBN Gene

  • Protein details for AMBN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q3B862
    • Q9H2X1
    • Q9H4L1

    Protein attributes for AMBN Gene

    447 amino acids
    Molecular mass:
    48283 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for AMBN Gene


neXtProt entry for AMBN Gene

Post-translational modifications for AMBN Gene

  • Glycosylation at Ser112
  • Modification sites at PhosphoSitePlus

Other Protein References for AMBN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AMBN Gene

Domains & Families for AMBN Gene

Gene Families for AMBN Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for AMBN Gene


Suggested Antigen Peptide Sequences for AMBN Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ameloblastin family.
  • Belongs to the ameloblastin family.
genes like me logo Genes that share domains with AMBN: view

Function for AMBN Gene

Molecular function for AMBN Gene

UniProtKB/Swiss-Prot Function:
Involved in the mineralization and structural organization of enamel.
GENATLAS Biochemistry:
ameloblastin,enamel sheath protein

Gene Ontology (GO) - Molecular Function for AMBN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25789606
GO:0008083 growth factor activity ISS --
GO:0030345 structural constituent of tooth enamel IEA --
genes like me logo Genes that share ontologies with AMBN: view
genes like me logo Genes that share phenotypes with AMBN: view

Human Phenotype Ontology for AMBN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AMBN Gene

MGI Knock Outs for AMBN:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , miRNA , Transcription Factor Targets and HOMER Transcription for AMBN Gene

Localization for AMBN Gene

Subcellular locations from UniProtKB/Swiss-Prot for AMBN Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AMBN gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
cytoskeleton 1
nucleus 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for AMBN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with AMBN: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AMBN Gene

Pathways & Interactions for AMBN Gene

No Data Available

Interacting Proteins for AMBN Gene

Gene Ontology (GO) - Biological Process for AMBN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion ISS --
GO:0008283 cell proliferation ISS --
GO:0010469 regulation of signaling receptor activity IEA --
GO:0031214 biomineral tissue development IEA --
GO:0042475 odontogenesis of dentin-containing tooth IEA --
genes like me logo Genes that share ontologies with AMBN: view

No data available for Pathways by source and SIGNOR curated interactions for AMBN Gene

Drugs & Compounds for AMBN Gene

No Compound Related Data Available

Transcripts for AMBN Gene

mRNA/cDNA for AMBN Gene

(7) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(15) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AMBN Gene

Ameloblastin (enamel matrix protein):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AMBN Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP2: -

Relevant External Links for AMBN Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AMBN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AMBN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AMBN Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x25.8), Brain - Caudate (basal ganglia) (x14.5), and Brain - Nucleus accumbens (basal ganglia) (x8.0).

Protein differential expression in normal tissues from HIPED for AMBN Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AMBN Gene

Protein tissue co-expression partners for AMBN Gene

NURSA nuclear receptor signaling pathways regulating expression of AMBN Gene:


SOURCE GeneReport for Unigene cluster for AMBN Gene:


mRNA Expression by UniProt/SwissProt for AMBN Gene:

Tissue specificity: Ameloblast-specific. Located at the Tomes processes of secretory ameloblasts and in the sheath space between rod-interrod enamel.

Phenotype-based relationships between genes and organs from Gene ORGANizer for AMBN Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • skeleton
Head and neck:
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
genes like me logo Genes that share expression patterns with AMBN: view

No data available for Evidence on tissue expression from TISSUES for AMBN Gene

Orthologs for AMBN Gene

This gene was present in the common ancestor of chordates.

Orthologs for AMBN Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia AMBN 34 33
  • 99.85 (n)
(Canis familiaris)
Mammalia AMBN 34 33
  • 84.37 (n)
(Bos Taurus)
Mammalia AMBN 34 33
  • 81.16 (n)
(Rattus norvegicus)
Mammalia Ambn 33
  • 77.8 (n)
(Mus musculus)
Mammalia Ambn 16 34 33
  • 77.72 (n)
(Monodelphis domestica)
Mammalia AMBN 34
  • 51 (a)
(Ornithorhynchus anatinus)
Mammalia AMBN 34
  • 49 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ambn 33
  • 49.92 (n)
Species where no ortholog for AMBN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for AMBN Gene

Gene Tree for AMBN (if available)
Gene Tree for AMBN (if available)
Evolutionary constrained regions (ECRs) for AMBN: view image

Paralogs for AMBN Gene

No data available for Paralogs for AMBN Gene

Variants for AMBN Gene

Sequence variations from dbSNP and Humsavar for AMBN Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs146238585 pathogenic, Amelogenesis imperfecta, type IF 70,602,623(+) G/A/C splice_acceptor_variant
rs1000390188 -- 70,600,054(+) C/T intron_variant
rs1000520596 -- 70,604,621(+) A/G intron_variant
rs1000738119 -- 70,594,112(+) T/G intron_variant
rs1001276730 -- 70,605,822(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for AMBN Gene

Variant ID Type Subtype PubMed ID
nsv1012495 CNV gain 25217958
nsv4379 CNV insertion 18451855

Variation tolerance for AMBN Gene

Residual Variation Intolerance Score: 89.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.47; 95.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AMBN Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMBN Gene

Disorders for AMBN Gene

MalaCards: The human disease database

(12) MalaCards diseases for AMBN Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search AMBN in MalaCards View complete list of genes associated with diseases


  • Amelogenesis imperfecta 1F (AI1F) [MIM:616270]: A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. AI1F is characterized by hypoplastic enamel of the primary and secondary dentition. {ECO:0000269 PubMed:24858907}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for AMBN

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with AMBN: view

No data available for Genatlas for AMBN Gene

Publications for AMBN Gene

  1. Enamel formation genes are associated with high caries experience in Turkish children. (PMID: 18781068) Patir A … Vieira AR (Caries research 2008) 3 22 44 58
  2. Human ameloblastin gene: genomic organization and mutation analysis in amelogenesis imperfecta patients. (PMID: 11330937) Mårdh CK … Forsman-Semb K (European journal of oral sciences 2001) 3 4 22 58
  3. Cloning and characterization of the human ameloblastin gene. (PMID: 11054529) Toyosawa S … Ijuhin N (Gene 2000) 3 4 22 58
  4. Cloning, characterization and immunolocalization of human ameloblastin. (PMID: 10946765) MacDougall M … Berdal A (European journal of oral sciences 2000) 3 4 22 58
  5. Ameloblastin gene (AMBN) maps within the critical region for autosomal dominant amelogenesis imperfecta at chromosome 4q21. (PMID: 9126491) MacDougall M … Forsman K (Genomics 1997) 2 3 22 58

Products for AMBN Gene

Sources for AMBN Gene

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