Free for academic non-profit institutions. Other users need a Commercial license

Aliases for AMTN Gene

Aliases for AMTN Gene

  • Amelotin 2 3 3 5
  • RSTI689 3
  • UNQ689 3
  • AI3B 3

External Ids for AMTN Gene

Previous GeneCards Identifiers for AMTN Gene

  • GC04P071419
  • GC04P067186

Summaries for AMTN Gene

Entrez Gene Summary for AMTN Gene

  • The mineralized portions of teeth, the dentin and enamel, are formed by mesenchyme-derived odontoblasts and epithelium-derived ameloblasts, respectively. As ameloblasts differentiate, they deposit specific proteins necessary for enamel formation, including amelogenin (AMELX; MIM 300391), enamelin (ENAM; MIM 606585), and ameloblastin (AMBN; MIM 601259), in the organic enamel matrix. Amelotin is specifically expressed in maturation-stage ameloblasts (Iwasaki et al., 2005 [PubMed 16304441]).[supplied by OMIM, Mar 2008]

GeneCards Summary for AMTN Gene

AMTN (Amelotin) is a Protein Coding gene. Diseases associated with AMTN include Amelogenesis Imperfecta, Type Iiib and Hypocalcified Amelogenesis Imperfecta.

UniProtKB/Swiss-Prot for AMTN Gene

  • Is a promoter of calcium phosphate mineralization, playing a critical role in the formation of the compact, mineralized, aprismatic enamel surface layer during the maturation stage of amelogenesis.

Additional gene information for AMTN Gene

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

Genomics for AMTN Gene

GeneHancer (GH) Regulatory Elements for AMTN Gene

Promoters and enhancers for AMTN 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
GH04J070518 Promoter 0.5 EPDnew 650.7 +0.0 10 0.1 AMTN AMBN
GH04J070522 Enhancer 0.5 ENCODE 23.1 +4.2 4199 0.2 CTBP1 GATA3 DPF2 FOXA1 AMTN AMBN
GH04J070592 Promoter 0.8 EPDnew 0.2 +73.7 73697 0.1 ZNF362 PRDM6 PRDM4 ZNF843 SP7 AMBN AMTN
GH04J070584 Enhancer 0.8 ENCODE 0.2 +66.2 66199 0.1 ZNF335 ZNF366 SCRT2 FOS SP3 ZEB2 ZNF518A ZNF843 ZFP69B MAFF AMBN AMTN
GH04J070558 Enhancer 0.4 Ensembl 0.3 +40.0 39961 0.2 ZNF512 PRDM1 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 AMTN on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AMTN gene promoter:
  • POU2F1a
  • POU2F1
  • Hlf
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • Chx10
  • STAT1

Genomic Locations for AMTN Gene

Genomic Locations for AMTN Gene
chr4:70,518,540-70,532,743
(GRCh38/hg38)
Size:
14,204 bases
Orientation:
Plus strand
chr4:71,384,257-71,398,459
(GRCh37/hg19)
Size:
14,203 bases
Orientation:
Plus strand

Genomic View for AMTN Gene

Genes around AMTN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for AMTN Gene

Proteins for AMTN Gene

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

    Protein Symbol:
    Q6UX39-AMTN_HUMAN
    Recommended name:
    Amelotin
    Protein Accession:
    Q6UX39
    Secondary Accessions:
    • Q0P503
    • Q0P506

    Protein attributes for AMTN Gene

    Size:
    209 amino acids
    Molecular mass:
    21588 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for AMTN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AMTN Gene

Post-translational modifications for AMTN Gene

Other Protein References for AMTN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AMTN Gene

Domains & Families for AMTN Gene

Gene Families for AMTN Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for AMTN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AMTN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6UX39

UniProtKB/Swiss-Prot:

AMTN_HUMAN :
  • Belongs to the amelotin family.
Family:
  • Belongs to the amelotin family.
genes like me logo Genes that share domains with AMTN: view

Function for AMTN Gene

Molecular function for AMTN Gene

UniProtKB/Swiss-Prot Function:
Is a promoter of calcium phosphate mineralization, playing a critical role in the formation of the compact, mineralized, aprismatic enamel surface layer during the maturation stage of amelogenesis.

Gene Ontology (GO) - Molecular Function for AMTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 25789606
genes like me logo Genes that share ontologies with AMTN: view
genes like me logo Genes that share phenotypes with AMTN: view

Animal Models for AMTN Gene

MGI Knock Outs for AMTN:
  • Amtn Amtn<tm1Tigm>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

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

Localization for AMTN Gene

Subcellular locations from UniProtKB/Swiss-Prot for AMTN Gene

Secreted.

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 AMTN gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
mitochondrion 2

Gene Ontology (GO) - Cellular Components for AMTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005605 basal lamina ISS 16787391
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005911 cell-cell junction ISS 16787391
genes like me logo Genes that share ontologies with AMTN: view

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

Pathways & Interactions for AMTN Gene

No Data Available

Interacting Proteins for AMTN Gene

Gene Ontology (GO) - Biological Process for AMTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0031214 biomineral tissue development IEA --
GO:0042475 odontogenesis of dentin-containing tooth ISS 16304441
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with AMTN: view

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

Drugs & Compounds for AMTN Gene

No Compound Related Data Available

Transcripts for AMTN Gene

mRNA/cDNA for AMTN Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AMTN Gene

Amelotin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

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

No ASD Table

Relevant External Links for AMTN Gene

GeneLoc Exon Structure for
AMTN
ECgene alternative splicing isoforms for
AMTN

Expression for AMTN Gene

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

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

This gene is overexpressed in Minor Salivary Gland (x44.8).

NURSA nuclear receptor signaling pathways regulating expression of AMTN Gene:

AMTN

SOURCE GeneReport for Unigene cluster for AMTN Gene:

Hs.453069
genes like me logo Genes that share expression patterns with AMTN: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for AMTN Gene

Orthologs for AMTN Gene

This gene was present in the common ancestor of mammals.

Orthologs for AMTN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AMTN 34 33
  • 98.88 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AMTN 34 33
  • 80.65 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AMTN 34 33
  • 79.7 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Amtn 16 34 33
  • 76.28 (n)
rat
(Rattus norvegicus)
Mammalia Amtn 33
  • 75.45 (n)
oppossum
(Monodelphis domestica)
Mammalia AMTN 34
  • 38 (a)
OneToOne
Species where no ortholog for AMTN 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for AMTN Gene

ENSEMBL:
Gene Tree for AMTN (if available)
TreeFam:
Gene Tree for AMTN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AMTN: view image

Paralogs for AMTN Gene

No data available for Paralogs for AMTN Gene

Variants for AMTN Gene

Sequence variations from dbSNP and Humsavar for AMTN Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs151041998 A colorectal cancer sample 70,524,899(+) G/A coding_sequence_variant, missense_variant
rs1000205647 -- 70,525,986(+) T/A intron_variant
rs1000429309 -- 70,520,420(+) C/G intron_variant
rs1000440233 -- 70,526,329(+) A/G intron_variant
rs1000488832 -- 70,524,692(+) C/T intron_variant

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

Variant ID Type Subtype PubMed ID
nsv1012495 CNV gain 25217958

Variation tolerance for AMTN Gene

Residual Variation Intolerance Score: 81.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.95; 83.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AMTN Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for AMTN Gene

MalaCards: The human disease database

(2) MalaCards diseases for AMTN Gene - From: OMIM, ClinVar, and Orphanet

Disorder Aliases PubMed IDs
amelogenesis imperfecta, type iiib
  • ai3b
hypocalcified amelogenesis imperfecta
  • amelogenesis imperfecta type 3
- elite association - COSMIC cancer census association via MalaCards
Search AMTN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AMTN_HUMAN
  • Amelogenesis imperfecta 3B (AI3B) [MIM:617607]: An autosomal dominant form of amelogenesis imperfecta, a defect of enamel formation. AI3B is characterized by hypomineralized enamel that has reduced tickness and exhibits structural defects. {ECO:0000269 PubMed:27412008}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for AMTN

genes like me logo Genes that share disorders with AMTN: view

No data available for Genatlas for AMTN Gene

Publications for AMTN Gene

  1. Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta. (PMID: 27412008) Smith CE … Mighell AJ (Human molecular genetics 2016) 3 4 58
  2. A secretory kinase complex regulates extracellular protein phosphorylation. (PMID: 25789606) Cui J … Dixon JE (eLife 2015) 3 4 58
  3. The enamel protein amelotin is a promoter of hydroxyapatite mineralization. (PMID: 25407797) Abbarin N … Ganss B (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2015) 3 4 58
  4. Amelotin--a Novel Secreted, Ameloblast-specific Protein. (PMID: 16304441) Iwasaki K … Ganss B (Journal of dental research 2005) 2 3 58
  5. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z … Henzel WJ (Protein science : a publication of the Protein Society 2004) 3 4 58

Products for AMTN Gene

Sources for AMTN Gene

Content
Loading form....