ENSG00000159147


Homo sapiens

Features
Gene ID: ENSG00000159147
  
Biological name :DONSON
  
Synonyms : DONSON / downstream neighbor of SON / Q9NYP3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 21
Strand: -1
Band: q22.11
Gene start: 33559542
Gene end: 33588708
  
Corresponding Affymetrix probe sets: 221677_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000401082
Ensembl peptide - ENSP00000476496
Ensembl peptide - ENSP00000415191
Ensembl peptide - ENSP00000408788
Ensembl peptide - ENSP00000304716
Ensembl peptide - ENSP00000307143
Ensembl peptide - ENSP00000392014
Ensembl peptide - ENSP00000392405
Ensembl peptide - ENSP00000394276
Ensembl peptide - ENSP00000398329
Ensembl peptide - ENSP00000399535
NCBI entrez gene - 29980     See in Manteia.
OMIM - 611428
RefSeq - NM_017613
RefSeq Peptide - NP_060083
swissprot - F8WC22
swissprot - F8WD19
swissprot - H7C006
swissprot - H7C1C1
swissprot - H7C1M7
swissprot - H7C304
swissprot - Q9NYP3
swissprot - C9JSP0
swissprot - V9GY84
swissprot - C9J4K5
swissprot - F8W8A5
Ensembl - ENSG00000159147
  
Related genetic diseases (OMIM): 251230 - Microcephaly-micromelia syndrome, 251230
  617604 - Microcephaly, short stature, and limb abnormalities, 617604
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
 DONSONENSGALG00000038649Gallus gallus
 DonsonENSMUSG00000022960Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR024861  Donson


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000077 DNA damage checkpoint IMP
 biological_processGO:0006260 DNA replication IMP
 biological_processGO:0007095 mitotic G2 DNA damage checkpoint IMP
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0033260 nuclear DNA replication IBA
 biological_processGO:0048478 replication fork protection IMP
 cellular_componentGO:0005634 nucleus IBA
 cellular_componentGO:0005657 replication fork IDA
 cellular_componentGO:0030894 replisome IDA
 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:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0001155 Abnormality of the hand "An abnormality affecting one or both hands." [HPO:curators]
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 HP:0001511 Intrauterine growth retardation 
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 HP:0002983 Micromelia 
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 HP:0009821 Hypoplasia involving forearm bones 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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