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 RefS... See more...

Aliases for AMBN Gene

Aliases for AMBN Gene

  • Ameloblastin 2 3 4 5
  • Enamel Matrix Protein 2 3
  • Ameloblastin (Enamel Matrix Protein) 2
  • Ameloblastin, Enamel Matrix Protein 2
  • AI1F 3
  • AMBN 5

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 Summary for AMBN Gene

  • Involved in the mineralization and structural organization of enamel.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AMBN Gene

Genomics for AMBN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AMBN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J070592 Promoter 0.6 EPDnew 600.7 0.0 -19 0.1 PRDM4 ZNF843 PRDM6 ZNF362 SP7 AMBN AMTN
GH04J070601 Enhancer 0.8 Ensembl ENCODE 0.4 +9.4 9356 0.5 CTCF REST RAD21 TRIM22 RELA RNF2 SMC3 BMI1 GATA3 SPI1 AMBN ENAM
GH04J070585 Enhancer 0.8 Ensembl 0.4 -7.8 -7755 0.2 PRDM10 ZNF629 FOXA1 PATZ1 ZNF600 SCRT2 ZNF639 ZNF10 ZXDB ESR1 SMR3B AMBN AMTN
GH04J070584 Enhancer 0.7 ENCODE 0.4 -7.5 -7517 0.1 PRDM10 ZNF629 FOXA1 PATZ1 ZNF600 SCRT2 ZNF639 ZNF10 ZXDB ESR1 AMBN AMTN
GH04J070589 Enhancer 0.3 Ensembl 0.7 -2.2 -2155 0.2 SPI1 ZNF24 AMBN AMTN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AMBN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AMBN

Top Transcription factor binding sites by QIAGEN in the AMBN gene promoter:
  • AML1a
  • AP-1
  • Chx10
  • Evi-1
  • FOXI1
  • GATA-1
  • GATA-2
  • Gfi-1
  • HFH-3
  • POU3F2

Genomic Locations for AMBN Gene

Genomic Locations for AMBN Gene
chr4:70,592,256-70,607,288
(GRCh38/hg38)
Size:
15,033 bases
Orientation:
Plus strand
chr4:71,457,973-71,473,005
(GRCh37/hg19)
Size:
15,033 bases
Orientation:
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:
    Q9NP70-AMBN_HUMAN
    Recommended name:
    Ameloblastin
    Protein Accession:
    Q9NP70
    Secondary Accessions:
    • Q3B862
    • Q9H2X1
    • Q9H4L1

    Protein attributes for AMBN Gene

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

    Alternative splice isoforms for AMBN Gene

    UniProtKB/Swiss-Prot:

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

InterPro:
Blocks:
  • Ameloblastin precursor
ProtoNet:

Suggested Antigen Peptide Sequences for AMBN Gene

GenScript: Design optimal peptide antigens:
  • Ameloblastin (AMBN_HUMAN)
  • AMBN protein (Q3B861_HUMAN)
  • cDNA, FLJ95827, Homo sapiens ameloblastin, enamel matrix protein (AMBN), mRNA (Q546D7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NP70

UniProtKB/Swiss-Prot:

AMBN_HUMAN :
  • Belongs to the ameloblastin family.
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMBN

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

COMPARTMENTS
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 4
endoplasmic reticulum 4
plasma membrane 2
cytoskeleton 2
nucleus 2
lysosome 2
mitochondrion 1
endosome 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Nucleoplasm (2)
See all subcellular structures

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

Pathways & Interactions for AMBN Gene

PathCards logo

SuperPathways for AMBN Gene

No Data Available

Gene Ontology (GO) - Biological Process for AMBN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion ISS --
GO:0007165 signal transduction IEA --
GO:0031214 biomineral tissue development IEA --
GO:0042127 regulation of cell proliferation ISS --
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

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMBN

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
SP1:
SP2: -

Relevant External Links for AMBN Gene

GeneLoc Exon Structure for
AMBN

Expression for AMBN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AMBN

SOURCE GeneReport for Unigene cluster for AMBN Gene:

Hs.272396

mRNA Expression by UniProt/SwissProt for AMBN Gene:

Q9NP70-AMBN_HUMAN
Tissue specificity: Ameloblast-specific. Located at the Tomes processes of secretory ameloblasts and in the sheath space between rod-interrod enamel.

Evidence on tissue expression from TISSUES for AMBN Gene

  • Bone(2.3)

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

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

Orthologs for AMBN Gene

This gene was present in the common ancestor of chordates.

Orthologs for AMBN Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia AMBN 30 31
  • 99.85 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AMBN 30 31
  • 84.37 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AMBN 30 31
  • 81.16 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ambn 30
  • 77.8 (n)
Mouse
(Mus musculus)
Mammalia Ambn 30 17 31
  • 77.72 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia AMBN 31
  • 51 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia AMBN 31
  • 49 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ambn 30
  • 49.92 (n)
Species where no ortholog for AMBN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for AMBN (if available)
TreeFam:
Gene Tree for AMBN (if available)
Aminode:
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AMBN Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
183689 Pathogenic: Amelogenesis imperfecta, type IF 70,599,784(+) AGCCTATAACTGCTTT SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT
714243 Benign: not provided 70,606,460(+) G/A SYNONYMOUS_VARIANT
715224 Likely Benign: not provided 70,606,247(+) C/T SYNONYMOUS_VARIANT
715973 Benign: not provided 70,599,580(+) G/T MISSENSE_VARIANT
736859 Benign: not provided 70,606,517(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for AMBN Gene

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)
AMBN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AMBN

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

(26) MalaCards diseases for AMBN Gene - From: 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

UniProtKB/Swiss-Prot

AMBN_HUMAN
  • 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 23 41
  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 23
  3. Cloning and characterization of the human ameloblastin gene. (PMID: 11054529) Toyosawa S … Ijuhin N (Gene 2000) 3 4 23
  4. Cloning, characterization and immunolocalization of human ameloblastin. (PMID: 10946765) MacDougall M … Berdal A (European journal of oral sciences 2000) 3 4 23
  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 23

Products for AMBN Gene

Sources for AMBN Gene