ENSG00000112282


Homo sapiens

Features
Gene ID: ENSG00000112282
  
Biological name :MED23
  
Synonyms : MED23 / mediator complex subunit 23 / Q9ULK4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: q23.2
Gene start: 131573966
Gene end: 131628229
  
Corresponding Affymetrix probe sets: 218846_at (Human Genome U133 Plus 2.0 Array)   223946_at (Human Genome U133 Plus 2.0 Array)   223947_s_at (Human Genome U133 Plus 2.0 Array)   242706_s_at (Human Genome U133 Plus 2.0 Array)   242707_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000357047
Ensembl peptide - ENSP00000346588
Ensembl peptide - ENSP00000357032
Ensembl peptide - ENSP00000357037
Ensembl peptide - ENSP00000445072
Ensembl peptide - ENSP00000357039
NCBI entrez gene - 9439     See in Manteia.
OMIM - 605042
RefSeq - XM_017011501
RefSeq - NM_001270521
RefSeq - NM_001270522
RefSeq - NM_004830
RefSeq - NM_015979
RefSeq - XM_005267223
RefSeq - XM_006715612
RefSeq - XM_011536257
RefSeq Peptide - NP_001257450
RefSeq Peptide - NP_001257451
RefSeq Peptide - NP_004821
RefSeq Peptide - NP_057063
swissprot - Q5JWT2
swissprot - Q9ULK4
Ensembl - ENSG00000112282
  
Related genetic diseases (OMIM): 614249 - Mental retardation, autosomal recessive 18, 614249
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
 med23ENSDARG00000029157Danio rerio
 MED23ENSGALG00000040607Gallus gallus
 Med23ENSMUSG00000019984Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR021629  Mediator complex, subunit Med23


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IDA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II TAS
 biological_processGO:0006367 transcription initiation from RNA polymerase II promoter TAS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005667 transcription factor complex IDA
 molecular_functionGO:0003713 transcription coactivator activity TAS
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
PPARA activates gene expression
Generic Transcription Pathway
Transcriptional regulation of white adipocyte differentiation


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:0001249 Mental retardation 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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