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MKL2 (MKL1/myocardin like 2)

Identity

Alias_namesMKL/myocardin like 2
Alias_symbol (synonym)MRTF-B
FLJ31823
Other aliasMRTFB
NPD001
HGNC (Hugo) MKL2
LocusID (NCBI) 57496
Atlas_Id 49970
Location 16p13.12  [Link to chromosome band 16p13]
Location_base_pair Starts at 14165171 and ends at 14360636 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
C11orf95 (11q13.1) / MKL2 (16p13.12)LCN2 (9q34.11) / MKL2 (16p13.12)MKL2 (16p13.12) / CACNA1H (16p13.3)
MKL2 (16p13.12) / FRMD4A (10p13)MKL2 (16p13.12) / FSTL3 (19p13.3)MKL2 (16p13.12) / PPP6R3 (11q13.2)
MKL2 (16p13.12) / RBFOX1 (16p13.3)MKL2 (16p13.12) / SCNN1B (16p12.2)MKL2 (16p13.12) / SNX29 (16p13.13)
MKL2 (16p13.12) / ZNF200 (16p13.3)USP31 (16p12.2) / MKL2 (16p13.12)MKL2 16p13.12 / CACNA1H 16p13.3
MKL2 16p13.12 / FRMD4A 10p13MKL2 16p13.12 / FSTL3 19p13.3MKL2 16p13.12 / RBFOX1 16p13.3
MKL2 16p13.12 RUNDC2AMKL2 16p13.12 / SCNN1B 16p12.2MKL2 16p13.12 / ZNF200 16p13.3
USP31 16p12.2 / MKL2 16p13.12

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

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Soft Tissues: Lipoma: Chondroid lipoma
Soft tissue tumors: an overview


External links

Nomenclature
HGNC (Hugo)MKL2   29819
Cards
Entrez_Gene (NCBI)MKL2  57496  MKL1/myocardin like 2
AliasesMRTF-B; MRTFB; NPD001
GeneCards (Weizmann)MKL2
Ensembl hg19 (Hinxton)ENSG00000186260 [Gene_View]  chr16:14165171-14360636 [Contig_View]  MKL2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000186260 [Gene_View]  chr16:14165171-14360636 [Contig_View]  MKL2 [Vega]
ICGC DataPortalENSG00000186260
TCGA cBioPortalMKL2
AceView (NCBI)MKL2
Genatlas (Paris)MKL2
WikiGenes57496
SOURCE (Princeton)MKL2
Genetics Home Reference (NIH)MKL2
Genomic and cartography
GoldenPath hg19 (UCSC)MKL2  -     chr16:14165171-14360636 +  16p13.12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MKL2  -     16p13.12   [Description]    (hg38-Dec_2013)
EnsemblMKL2 - 16p13.12 [CytoView hg19]  MKL2 - 16p13.12 [CytoView hg38]
Mapping of homologs : NCBIMKL2 [Mapview hg19]  MKL2 [Mapview hg38]
OMIM609463   
Gene and transcription
Genbank (Entrez)AB033069 AF078853 AI498641 AK056385 AK057216
RefSeq transcript (Entrez)NM_001308142 NM_014048
RefSeq genomic (Entrez)NC_000016 NC_018927 NT_010393 NW_004929400
Consensus coding sequences : CCDS (NCBI)MKL2
Cluster EST : UnigeneHs.49143 [ NCBI ]
CGAP (NCI)Hs.49143
Alternative Splicing GalleryENSG00000186260
Gene ExpressionMKL2 [ NCBI-GEO ]   MKL2 [ EBI - ARRAY_EXPRESS ]   MKL2 [ SEEK ]   MKL2 [ MEM ]
Gene Expression Viewer (FireBrowse)MKL2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57496
GTEX Portal (Tissue expression)MKL2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9ULH7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9ULH7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9ULH7
Splice isoforms : SwissVarQ9ULH7
PhosPhoSitePlusQ9ULH7
Domaine pattern : Prosite (Expaxy)RPEL (PS51073)    SAP (PS50800)   
Domains : Interpro (EBI)RPEL_repeat    SAP_dom   
Domain families : Pfam (Sanger)RPEL (PF02755)    SAP (PF02037)   
Domain families : Pfam (NCBI)pfam02755    pfam02037   
Domain families : Smart (EMBL)RPEL (SM00707)  SAP (SM00513)  
Conserved Domain (NCBI)MKL2
DMDM Disease mutations57496
Blocks (Seattle)MKL2
SuperfamilyQ9ULH7
Human Protein AtlasENSG00000186260
Peptide AtlasQ9ULH7
HPRD17577
IPIIPI00329152   IPI00335643   IPI00418489   IPI00335641   IPI00022318   
Protein Interaction databases
DIP (DOE-UCLA)Q9ULH7
IntAct (EBI)Q9ULH7
FunCoupENSG00000186260
BioGRIDMKL2
STRING (EMBL)MKL2
ZODIACMKL2
Ontologies - Pathways
QuickGOQ9ULH7
Ontology : AmiGORNA polymerase II transcription coactivator activity  transcription coactivator activity  protein binding  nucleus  nucleus  transcription, DNA-templated  muscle organ development  positive regulation of striated muscle tissue development  positive regulation of transcription from RNA polymerase II promoter  smooth muscle cell differentiation  
Ontology : EGO-EBIRNA polymerase II transcription coactivator activity  transcription coactivator activity  protein binding  nucleus  nucleus  transcription, DNA-templated  muscle organ development  positive regulation of striated muscle tissue development  positive regulation of transcription from RNA polymerase II promoter  smooth muscle cell differentiation  
NDEx NetworkMKL2
Atlas of Cancer Signalling NetworkMKL2
Wikipedia pathwaysMKL2
Orthology - Evolution
OrthoDB57496
GeneTree (enSembl)ENSG00000186260
Phylogenetic Trees/Animal Genes : TreeFamMKL2
HOVERGENQ9ULH7
HOGENOMQ9ULH7
Homologs : HomoloGeneMKL2
Homology/Alignments : Family Browser (UCSC)MKL2
Gene fusions - Rearrangements
Fusion : MitelmanC11orf95/MKL2 [11q13.1/16p13.12]  [t(11;16)(q13;p13)]  
Fusion : MitelmanMKL2/CACNA1H [16p13.12/16p13.3]  [t(16;16)(p13;p13)]  
Fusion : MitelmanMKL2/FRMD4A [16p13.12/10p13]  [t(10;16)(p13;p13)]  
Fusion : MitelmanMKL2/FSTL3 [16p13.12/19p13.3]  [t(16;19)(p13;p13)]  
Fusion : MitelmanMKL2/RBFOX1 [16p13.12/16p13.3]  [t(16;16)(p13;p13)]  
Fusion : MitelmanMKL2/SCNN1B [16p13.12/16p12.2]  [t(16;16)(p12;p13)]  
Fusion : MitelmanMKL2/SNX29 [16p13.12/16p13.13]  [t(16;16)(p13;p13)]  
Fusion : MitelmanMKL2/ZNF200 [16p13.12/16p13.3]  [t(16;16)(p13;p13)]  
Fusion : MitelmanUSP31/MKL2 [16p12.2/16p13.12]  [t(16;16)(p12;p13)]  
Fusion: TCGAMKL2 16p13.12 CACNA1H 16p13.3 BRCA
Fusion: TCGAMKL2 16p13.12 FRMD4A 10p13 BLCA
Fusion: TCGAMKL2 16p13.12 FSTL3 19p13.3 BRCA
Fusion: TCGAMKL2 16p13.12 RBFOX1 16p13.3 OV
Fusion: TCGAMKL2 16p13.12 RUNDC2A BRCA
Fusion: TCGAMKL2 16p13.12 SCNN1B 16p12.2 PRAD
Fusion: TCGAMKL2 16p13.12 ZNF200 16p13.3 LGG
Fusion: TCGAUSP31 16p12.2 MKL2 16p13.12 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMKL2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MKL2
dbVarMKL2
ClinVarMKL2
1000_GenomesMKL2 
Exome Variant ServerMKL2
ExAC (Exome Aggregation Consortium)MKL2 (select the gene name)
Genetic variants : HAPMAP57496
Genomic Variants (DGV)MKL2 [DGVbeta]
DECIPHER (Syndromes)16:14165171-14360636  ENSG00000186260
CONAN: Copy Number AnalysisMKL2 
Mutations
ICGC Data PortalMKL2 
TCGA Data PortalMKL2 
Broad Tumor PortalMKL2
OASIS PortalMKL2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMKL2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMKL2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MKL2
DgiDB (Drug Gene Interaction Database)MKL2
DoCM (Curated mutations)MKL2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MKL2 (select a term)
intoGenMKL2
Cancer3DMKL2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609463   
Orphanet
MedgenMKL2
Genetic Testing Registry MKL2
NextProtQ9ULH7 [Medical]
TSGene57496
GENETestsMKL2
Huge Navigator MKL2 [HugePedia]
snp3D : Map Gene to Disease57496
BioCentury BCIQMKL2
ClinGenMKL2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57496
Chemical/Pharm GKB GenePA134981329
Clinical trialMKL2
Miscellaneous
canSAR (ICR)MKL2 (select the gene name)
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMKL2
EVEXMKL2
GoPubMedMKL2
iHOPMKL2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:17:01 CET 2017

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