ENSG00000112562


Homo sapiens

Features
Gene ID: ENSG00000112562
  
Biological name :SMOC2
  
Synonyms : Q9H3U7 / SMOC2 / SPARC related modular calcium binding 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: q27
Gene start: 168441151
Gene end: 168673445
  
Corresponding Affymetrix probe sets: 223235_s_at (Human Genome U133 Plus 2.0 Array)   243946_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000346537
Ensembl peptide - ENSP00000375949
Ensembl peptide - ENSP00000398696
Ensembl peptide - ENSP00000477975
Ensembl peptide - ENSP00000348630
NCBI entrez gene - 64094     See in Manteia.
OMIM - 607223
RefSeq - XM_011536066
RefSeq - NM_001166412
RefSeq - NM_022138
RefSeq - XM_011536065
RefSeq Peptide - NP_001159884
RefSeq Peptide - NP_071421
swissprot - A0A087WTM0
swissprot - H0Y3J4
swissprot - H0Y5I1
swissprot - Q9H3U7
Ensembl - ENSG00000112562
  
Related genetic diseases (OMIM): 125400 - Dentin dysplasia, type I, with microdontia and misshapen teeth, 125400
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
 Smoc2ENSMUSG00000023886Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SMOC1 / Q9H4F8 / SPARC related modular calcium binding 1ENSG0000019873251


Protein motifs (from Interpro)
Interpro ID Name
 IPR000716  Thyroglobulin type-1
 IPR002048  EF-hand domain
 IPR002350  Kazal domain
 IPR011992  EF-hand domain pair
 IPR018247  EF-Hand 1, calcium-binding site
 IPR019577  SPARC/Testican, calcium-binding domain
 IPR036058  Kazal domain superfamily
 IPR036857  Thyroglobulin type-1 superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0010811 positive regulation of cell-substrate adhesion IEA
 biological_processGO:0030198 extracellular matrix organization IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005604 basement membrane IEA
 cellular_componentGO:0005614 interstitial matrix IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0005539 glycosaminoglycan binding IEA
 molecular_functionGO:0008201 heparin binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


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]
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 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:0000679 Taurodontia 
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 HP:0000691 Microdontia 
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 HP:0000700 Periapical radiolucencies 
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 HP:0006350 Crescent/chevron-shaped pulp chambers 
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 HP:0011060 Dentinogenesis imperfecta limited to primary teeth "`Developmental dysplasia` of `dentin` (FMA:55628) affecting only the `primary dentition` (FMA:55655)." [HPO:ibailleulforestier]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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