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Aliases for AMBN Gene

Aliases for AMBN Gene

  • Ameloblastin (Enamel Matrix Protein) 2 3
  • 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 (Enamel Matrix Protein)) is a Protein Coding gene. Diseases associated with AMBN include amelogenesis imperfecta, type if and ameloblastoma. 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

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

Genomics for AMBN Gene

Regulatory Elements for AMBN Gene

Genomic Location for AMBN Gene

Chromosome:
4
Start:
70,592,256 bp from pter
End:
70,607,288 bp from pter
Size:
15,033 bases
Orientation:
Plus strand

Genomic View for AMBN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for AMBN Gene at MOPED

Post-translational modifications for AMBN Gene

  • Glycosylation at Ser 112
  • 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

Protein Domains for AMBN Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for AMBN Gene

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

No data available for Gene Families for AMBN Gene

Function for AMBN Gene

Molecular function for AMBN Gene

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

Gene Ontology (GO) - Molecular Function for AMBN Gene

GO ID Qualified GO term Evidence PubMed IDs
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

Animal Models for AMBN Gene

MGI Knock Outs for AMBN:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AMBN

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for AMBN Gene COMPARTMENTS Subcellular localization image for AMBN gene
Compartment Confidence
extracellular 5
golgi apparatus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for AMBN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IEA --
genes like me logo Genes that share ontologies with AMBN: view

Pathways & Interactions for AMBN Gene

SuperPathways 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: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

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AMBN

Flow Cytometry 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
SP1:
SP2: -

Relevant External Links for AMBN Gene

GeneLoc Exon Structure for
AMBN
ECgene alternative splicing isoforms for
AMBN

Expression for AMBN Gene

mRNA expression in normal human tissues 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



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
genes like me logo Genes that share expression patterns with AMBN: view

Protein tissue co-expression partners for AMBN Gene

Primer Products

In Situ Assay Products

Orthologs for AMBN Gene

This gene was present in the common ancestor of chordates.

Orthologs for AMBN Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia AMBN 35
  • 81.16 (n)
  • 69.82 (a)
AMBN 36
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AMBN 35
  • 84.37 (n)
  • 76.79 (a)
AMBN 36
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ambn 35
  • 77.72 (n)
  • 65.84 (a)
Ambn 16
Ambn 36
  • 65 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AMBN 35
  • 99.85 (n)
  • 99.78 (a)
AMBN 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ambn 35
  • 77.8 (n)
  • 66.35 (a)
oppossum
(Monodelphis domestica)
Mammalia AMBN 36
  • 51 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AMBN 36
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ambn 35
  • 49.92 (n)
  • 37.8 (a)
Species with no ortholog for AMBN:
  • 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

ENSEMBL:
Gene Tree for AMBN (if available)
TreeFam:
Gene Tree for AMBN (if available)

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 Sequence Context AA Info Type MAF
VAR_014066 -
VAR_014067 -
VAR_014069 -
VAR_048225 -

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

Variant ID Type Subtype PubMed ID
nsv4379 CNV Insertion 18451855

Variation tolerance for AMBN Gene

Residual Variation Intolerance Score: 89.57% 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)

Relevant External Links for AMBN Gene

HapMap Linkage Disequilibrium report
AMBN
Human Gene Mutation Database (HGMD)
AMBN

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: OMIM, ClinVar, Orphanet, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
amelogenesis imperfecta, type if
  • amelogenesis imperfecta 1f
ameloblastoma
hypoplastic amelogenesis imperfecta
  • amelogenesis imperfecta type 1
dentine erosion
amelogenesis imperfecta
  • aortic valve insufficiency
- elite association
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.

Relevant External Links for AMBN

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

No data available for Genatlas for AMBN Gene

Publications for AMBN Gene

  1. 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 23 67
  2. Identification of a fibronectin interaction site in the extracellular matrix protein ameloblastin. (PMID: 20043904) Beyeler M. … Trueb B. (Exp. Cell Res. 2010) 23 67
  3. A mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfecta. (PMID: 20067920) Barron M.J. … Dixon M.J. (Hum. Mol. Genet. 2010) 23 67
  4. Amelogenesis imperfecta due to a mutation of the enamelin gene: clinical case with genotype-phenotype correlations. (PMID: 20298654) Lindemeyer R.G. … Wright T.J. (Pediatr Dent 2010) 23 67
  5. PDGFs regulate tooth germ proliferation and ameloblast differentiation. (PMID: 20392435) Wu N. … Fukumoto S. (Arch. Oral Biol. 2010) 23 67

Products for AMBN Gene

Sources for AMBN Gene

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