Atlas of Genetics and Cytogenetics in Oncology and Haematology


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MED12 (mediator complex subunit 12)

Identity

Other namesARC240
CAGH45
FGS1
HOPA
MED12S
OHDOX
OKS
OPA1
TNRC11
TRAP230
HGNC (Hugo) MED12
LocusID (NCBI) 9968
Location Xq13.1
Location_base_pair Starts at 70338406 and ends at 70362304 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

External links

Nomenclature
HGNC (Hugo)MED12   11957
Cards
Entrez_Gene (NCBI)MED12  9968  mediator complex subunit 12
GeneCards (Weizmann)MED12
Ensembl (Hinxton)ENSG00000184634 [Gene_View]  chrX:70338406-70362304 [Contig_View]  MED12 [Vega]
ICGC DataPortalENSG00000184634
cBioPortalMED12
AceView (NCBI)MED12
Genatlas (Paris)MED12
WikiGenes9968
SOURCE (Princeton)NM_005120
Genomic and cartography
GoldenPath (UCSC)MED12  -  Xq13.1   chrX:70338406-70362304 +  Xq13.1   [Description]    (hg19-Feb_2009)
EnsemblMED12 - Xq13.1 [CytoView]
Mapping of homologs : NCBIMED12 [Mapview]
OMIM300188   300895   305450   309520   
Gene and transcription
Genbank (Entrez)AB102668 AF071309 AJ306428 AK302543 BC156136
RefSeq transcript (Entrez)NM_005120
RefSeq genomic (Entrez)AC_000155 NC_000023 NC_018934 NG_012808 NT_011651 NW_001842373 NW_004929443
Consensus coding sequences : CCDS (NCBI)MED12
Cluster EST : UnigeneHs.409226 [ NCBI ]
CGAP (NCI)Hs.409226
Alternative Splicing : Fast-db (Paris)GSHG0031606
Alternative Splicing GalleryENSG00000184634
Gene ExpressionMED12 [ NCBI-GEO ]     MED12 [ SEEK ]   MED12 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ93074 (Uniprot)
NextProtQ93074  [Medical]
With graphics : InterProQ93074
Splice isoforms : SwissVarQ93074 (Swissvar)
Domains : Interpro (EBI)Mediator_Med12 [organisation]   Mediator_Med12_catenin-bd [organisation]   Mediator_Med12_LCEWAV [organisation]  
Related proteins : CluSTrQ93074
Domain families : Pfam (Sanger)Med12 (PF09497)    Med12-LCEWAV (PF12145)    Med12-PQL (PF12144)   
Domain families : Pfam (NCBI)pfam09497    pfam12145    pfam12144   
DMDM Disease mutations9968
Blocks (Seattle)Q93074
Human Protein AtlasENSG00000184634 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ93074
HPRD02176
IPIIPI00640149   IPI00913988   IPI00004068   IPI00745010   IPI00645480   IPI00646174   
Protein Interaction databases
DIP (DOE-UCLA)Q93074
IntAct (EBI)Q93074
FunCoupENSG00000184634
BioGRIDMED12
InParanoidQ93074
Interologous Interaction database Q93074
IntegromeDBMED12
STRING (EMBL)MED12
Ontologies - Pathways
Ontology : AmiGORNA polymerase II distal enhancer sequence-specific DNA binding  RNA polymerase II transcription cofactor activity  RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription  neural tube closure  chromatin binding  transcription cofactor activity  transcription coactivator activity  receptor activity  protein binding  nucleus  nucleoplasm  transcription initiation from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  heart development  beta-catenin binding  protein C-terminus binding  gene expression  oligodendrocyte development  Schwann cell development  membrane  mediator complex  stem cell maintenance  protein domain specific binding  negative regulation of Wnt signaling pathway  ligand-dependent nuclear receptor transcription coactivator activity  intracellular steroid hormone receptor signaling pathway  androgen receptor signaling pathway  vitamin D receptor binding  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  thyroid hormone receptor binding  canonical Wnt signaling pathway  Wnt signaling pathway, planar cell polarity pathway  axis elongation involved in somitogenesis  
Ontology : EGO-EBIRNA polymerase II distal enhancer sequence-specific DNA binding  RNA polymerase II transcription cofactor activity  RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription  neural tube closure  chromatin binding  transcription cofactor activity  transcription coactivator activity  receptor activity  protein binding  nucleus  nucleoplasm  transcription initiation from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  heart development  beta-catenin binding  protein C-terminus binding  gene expression  oligodendrocyte development  Schwann cell development  membrane  mediator complex  stem cell maintenance  protein domain specific binding  negative regulation of Wnt signaling pathway  ligand-dependent nuclear receptor transcription coactivator activity  intracellular steroid hormone receptor signaling pathway  androgen receptor signaling pathway  vitamin D receptor binding  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  thyroid hormone receptor binding  canonical Wnt signaling pathway  Wnt signaling pathway, planar cell polarity pathway  axis elongation involved in somitogenesis  
Pathways : KEGGThyroid hormone signaling pathway   
Protein Interaction DatabaseMED12
Wikipedia pathwaysMED12
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)MED12
snp3D : Map Gene to Disease9968
SNP (GeneSNP Utah)MED12
SNP : HGBaseMED12
Genetic variants : HAPMAPMED12
Exome VariantMED12
1000_GenomesMED12 
ICGC programENSG00000184634 
Cancer Gene: CensusMED12 
Somatic Mutations in Cancer : COSMICMED12 
CONAN: Copy Number AnalysisMED12 
Mutations and Diseases : HGMDMED12
Genomic VariantsMED12  MED12 [DGVbeta]
dbVarMED12
ClinVarMED12
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM300188    300895    305450    309520   
MedgenMED12
GENETestsMED12
Disease Genetic AssociationMED12
Huge Navigator MED12 [HugePedia]  MED12 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneMED12
Homology/Alignments : Family Browser (UCSC)MED12
Phylogenetic Trees/Animal Genes : TreeFamMED12
Chemical/Protein Interactions : CTD9968
Chemical/Pharm GKB GenePA36645
Clinical trialMED12
Cancer Resource (Charite)ENSG00000184634
Other databases
Probes
Litterature
PubMed101 Pubmed reference(s) in Entrez
CoreMineMED12
iHOPMED12
OncoSearchMED12
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jul 26 14:38:45 CEST 2014

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