ENSG00000132464


Homo sapiens

Features
Gene ID: ENSG00000132464
  
Biological name :ENAM
  
Synonyms : ENAM / enamelin / Q9NRM1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: q13.3
Gene start: 70628744
Gene end: 70686816
  
Corresponding Affymetrix probe sets: 223893_at (Human Genome U133 Plus 2.0 Array)   240586_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000379383
NCBI entrez gene - 10117     See in Manteia.
OMIM - 606585
RefSeq - NM_031889
RefSeq - XM_006714056
RefSeq Peptide - NP_114095
swissprot - Q9NRM1
Ensembl - ENSG00000132464
  
Related genetic diseases (OMIM): 104500 - Amelogenesis imperfecta, type IB, 104500
  204650 - Amelogenesis imperfecta, type IC, 204650
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
 EnamENSMUSG00000029286Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR015673  Enamelin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0022604 regulation of cell morphogenesis IEA
 biological_processGO:0031214 biomineral tissue development IEA
 biological_processGO:0036305 ameloblast differentiation 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
 biological_processGO:0070175 positive regulation of enamel mineralization IEA
 biological_processGO:0097186 amelogenesis IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 molecular_functionGO:0005515 protein binding IPI
 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:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show

 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]
Show

 HP:0000705 Amelogenesis imperfecta 
Show

 HP:0001425 Heterogeneous 
Show

 HP:0006285 Hypomineralization of enamel 
Show

 HP:0006286 Yellow-brown discoloration of the teeth 
Show

 HP:0009102 Anterior openbite malocclusion 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr