ENSG00000174792


Homo sapiens

Features
Gene ID: ENSG00000174792
  
Biological name :ODAPH
  
Synonyms : ODAPH / odontogenesis associated phosphoprotein / Q17RF5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: q21.1
Gene start: 75556048
Gene end: 75565885
  
Corresponding Affymetrix probe sets: 236984_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000421429
Ensembl peptide - ENSP00000479147
Ensembl peptide - ENSP00000311307
Ensembl peptide - ENSP00000406925
NCBI entrez gene - 152816     See in Manteia.
OMIM - 614829
RefSeq - XM_011531668
RefSeq - NM_001206981
RefSeq - NM_001257072
RefSeq - NM_178497
RefSeq Peptide - NP_001193910
RefSeq Peptide - NP_001244001
RefSeq Peptide - NP_848592
swissprot - A0A087WV33
swissprot - D6RFW7
swissprot - Q17RF5
Ensembl - ENSG00000174792
  
Related genetic diseases (OMIM): 614832 - Amelogenesis imperfecta, type IIA4, 614832
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
No match


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR031706  Odontogenesis associated phosphoprotein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0070169 positive regulation of biomineral tissue development IMP
 biological_processGO:0070175 positive regulation of enamel mineralization IMP
 cellular_componentGO:0005576 extracellular region IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


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:0006285 Hypomineralization of enamel 
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 HP:0006297 Hypoplastic dental enamel 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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contact: otassy@igbmc.fr