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Gene : AMBN Homo sapiens

Name  ? ameloblastin Cytological Location  4q13.3
Brief Description  ameloblastin
description  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]
  • synonyms:
  • uc003hfl.4,
  • AF209780,
  • NM_016519,
  • AI1F,
  • ameloblastin (enamel matrix protein),
  • ameloblastin, enamel matrix protein,
  • AMBN,
  • HGNC:452,
  • enamel matrix protein,
  • OTTHUMG00000129913
  • identifiers:
  • 258,
  • ENSG00000178522,
  • AMBN

Genome feature

Region: gene ? Length: 15031  
Location: 4:70592258-70607288 Cyto location: 4q13.3


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

4 SN Ps

5 Cross References

17 Data Sets

2 Homologues

0 Located Features

90 Rna Seq Results