ENSG00000178522


Homo sapiens

Features
Gene ID: ENSG00000178522
  
Biological name :AMBN
  
Synonyms : AMBN / ameloblastin / Q9NP70
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: q13.3
Gene start: 70592256
Gene end: 70607288
  
Corresponding Affymetrix probe sets: 221114_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000313809
Ensembl peptide - ENSP00000479096
Ensembl peptide - ENSP00000391234
NCBI entrez gene - 258     See in Manteia.
OMIM - 601259
RefSeq - NM_016519
RefSeq Peptide - NP_057603
swissprot - A0A087WV21
swissprot - Q546D7
swissprot - Q9NP70
Ensembl - ENSG00000178522
  
Related genetic diseases (OMIM): 616270 - Amelogenesis imperfecta, type IF, 616270
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 AmbnENSMUSG00000029288Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR007798  Ameloblastin precursor


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007155 cell adhesion ISS
 biological_processGO:0008283 cell proliferation ISS
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0031214 biomineral tissue development IEA
 biological_processGO:0042475 odontogenesis of dentin-containing tooth IEA
 biological_processGO:0043687 post-translational protein modification TAS
 biological_processGO:0044267 cellular protein metabolic process TAS
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008083 growth factor activity ISS
 molecular_functionGO:0030345 structural constituent of tooth enamel IEA


Pathways (from Reactome)
Pathway description
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000705 Amelogenesis imperfecta 
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 HP:0006297 Hypoplastic dental enamel 
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 HP:0009722 Dental enamel pits "The presence of pits in the dental enamel." [HPO:curators]
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 HP:0011073 Abnormality of dental color "A developmental defect of tooth color." [HPO:ibailleulforestier]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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