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Aliases for MKL2 Gene

Aliases for MKL2 Gene

  • MKL1/Myocardin Like 2 2 3 5
  • Myocardin-Related Transcription Factor B 3 4
  • MKL And Myocardin Family Member 2 2 3
  • Megakaryoblastic Leukemia 2 3 4
  • MKL/Myocardin Like 2 2 3
  • MRTF-B 3 4
  • MRTFB 3 4
  • MKL/Myocardin-Like Protein 2 3
  • CTA-276F8.1 3
  • KIAA1243 4
  • NPD001 3

External Ids for MKL2 Gene

Summaries for MKL2 Gene

GeneCards Summary for MKL2 Gene

MKL2 (MKL1/Myocardin Like 2) is a Protein Coding gene. Diseases associated with MKL2 include Chondroid Lipoma and Chondrosarcoma, Extraskeletal Myxoid. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and actin binding. An important paralog of this gene is MKL1.

UniProtKB/Swiss-Prot for MKL2 Gene

  • Acts as a transcriptional coactivator of serum response factor (SRF). Required for skeletal myogenic differentiation.

Gene Wiki entry for MKL2 Gene

Additional gene information for MKL2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MKL2 Gene

Genomics for MKL2 Gene

GeneHancer (GH) Regulatory Elements for MKL2 Gene

Promoters and enhancers for MKL2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J014070 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.1 76 2.1 HDGF MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 MKL2 ENSG00000276564
GH16J014200 Promoter 0.5 EPDnew 650.1 +129.0 128997 0.1 ENSG00000262529 GC16P014200 TVP23CP2 MKL2
GH16J014192 Enhancer 0.7 Ensembl ENCODE 9.1 +122.2 122172 1.3 ZNF148 CTCF IRF2 CEBPB NBN MLLT1 RAD21 MKL2 ENSG00000262529 ENSG00000276564
GH16J013955 Enhancer 1.5 FANTOM5 Ensembl ENCODE 3.5 -113.9 -113934 3.8 PKNOX1 FOXA2 ARNT NEUROD1 SIN3A FEZF1 ZNF2 IRF4 SLC30A9 FOS ERCC4 BFAR PARN ENSG00000183458 NPIPA1 NPIPA3 RPS26P52 NPIPA2 PLA2G10 MKL2
GH16J015034 Enhancer 0.8 ENCODE dbSUPER 4.1 +963.9 963918 2.1 CTCF ZNF687 CLOCK JUN MNT KLF4 RFX5 FOXA1 ZNF217 GATA3 PIR54636 LOC100505915 NPIPA5 NPIPA1 RRN3 NPIPA2 MKL2 NTAN1 PDXDC1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MKL2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MKL2 gene promoter:
  • E2F-5
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • AML1a
  • E47
  • Evi-1
  • TBP

Genomic Locations for MKL2 Gene

Genomic Locations for MKL2 Gene
195,456 bases
Plus strand
195,453 bases
Plus strand

Genomic View for MKL2 Gene

Genes around MKL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MKL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MKL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MKL2 Gene

Proteins for MKL2 Gene

  • Protein details for MKL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    MKL/myocardin-like protein 2
    Protein Accession:
    Secondary Accessions:
    • A6ND53
    • B4DGT8
    • Q68CT1
    • Q6UB16
    • Q86WW2
    • Q8N226

    Protein attributes for MKL2 Gene

    1088 amino acids
    Molecular mass:
    118127 Da
    Quaternary structure:
    • Interacts with MKL1 and SRF.

    Alternative splice isoforms for MKL2 Gene


neXtProt entry for MKL2 Gene

Post-translational modifications for MKL2 Gene

No data available for DME Specific Peptides for MKL2 Gene

Domains & Families for MKL2 Gene

Gene Families for MKL2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for MKL2 Gene


Graphical View of Domain Structure for InterPro Entry



  • The N-terminal region is required for nuclear localization and the C-terminal region mediates transcriptional activity.
  • The N-terminal region is required for nuclear localization and the C-terminal region mediates transcriptional activity.
genes like me logo Genes that share domains with MKL2: view

Function for MKL2 Gene

Molecular function for MKL2 Gene

UniProtKB/Swiss-Prot Function:
Acts as a transcriptional coactivator of serum response factor (SRF). Required for skeletal myogenic differentiation.

Phenotypes From GWAS Catalog for MKL2 Gene

Gene Ontology (GO) - Molecular Function for MKL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003713 transcription coactivator activity IDA 14565952
GO:0003779 actin binding IEA --
GO:0004864 protein phosphatase inhibitor activity IEA --
GO:0005515 protein binding IPI 12397177
GO:0045296 cadherin binding IDA 25468996
genes like me logo Genes that share ontologies with MKL2: view
genes like me logo Genes that share phenotypes with MKL2: view

Animal Models for MKL2 Gene

MGI Knock Outs for MKL2:

Animal Model Products

Clone Products

  • Addgene plasmids for MKL2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MKL2 Gene

Localization for MKL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MKL2 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MKL2 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MKL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IC,IBA 14565952
genes like me logo Genes that share ontologies with MKL2: view

Pathways & Interactions for MKL2 Gene

No Data Available

SIGNOR curated interactions for MKL2 Gene


Gene Ontology (GO) - Biological Process for MKL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA --
GO:0006366 transcription by RNA polymerase II IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with MKL2: view

No data available for Pathways by source for MKL2 Gene

Drugs & Compounds for MKL2 Gene

No Compound Related Data Available

Transcripts for MKL2 Gene

Unigene Clusters for MKL2 Gene

MKL/myocardin-like 2:
Representative Sequences:

Clone Products

  • Addgene plasmids for MKL2

Alternative Splicing Database (ASD) splice patterns (SP) for MKL2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23a · 23b
SP1: - - - - - - -
SP3: -
SP4: -
SP6: -

Relevant External Links for MKL2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MKL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MKL2 Gene

Protein differential expression in normal tissues from HIPED for MKL2 Gene

This gene is overexpressed in Brain (34.1) and Testis (15.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MKL2 Gene

Protein tissue co-expression partners for MKL2 Gene

NURSA nuclear receptor signaling pathways regulating expression of MKL2 Gene:


SOURCE GeneReport for Unigene cluster for MKL2 Gene:


Evidence on tissue expression from TISSUES for MKL2 Gene

  • Nervous system(4.9)
  • Liver(4.1)
  • Muscle(2.4)
genes like me logo Genes that share expression patterns with MKL2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MKL2 Gene

Orthologs for MKL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MKL2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MKL2 34 33
  • 99.56 (n)
(Canis familiaris)
Mammalia MKL2 34 33
  • 88.23 (n)
(Bos Taurus)
Mammalia MKL2 34 33
  • 85.85 (n)
(Mus musculus)
Mammalia Mkl2 16 34 33
  • 83.04 (n)
(Ornithorhynchus anatinus)
Mammalia MKL2 34
  • 75 (a)
(Monodelphis domestica)
Mammalia MKL2 34
  • 73 (a)
(Gallus gallus)
Aves MKL2 34 33
  • 72.44 (n)
(Anolis carolinensis)
Reptilia MKL2 34
  • 59 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mkl2 33
  • 66.56 (n)
African clawed frog
(Xenopus laevis)
Amphibia mrtf-b-A 33
(Danio rerio)
Actinopterygii mkl2a 34 33
  • 66.83 (n)
mkl2b 34
  • 47 (a)
MKL2 (1 of 3) 34
  • 47 (a)
fruit fly
(Drosophila melanogaster)
Insecta Mrtf 34
  • 15 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5092 34
  • 41 (a)
Species where no ortholog for MKL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MKL2 Gene

Gene Tree for MKL2 (if available)
Gene Tree for MKL2 (if available)
Evolutionary constrained regions (ECRs) for MKL2: view image

Paralogs for MKL2 Gene

Paralogs for MKL2 Gene

(2) SIMAP similar genes for MKL2 Gene using alignment to 8 proteins:

  • A1L1A9_HUMAN
  • I3L0U1_HUMAN
  • I3L2A0_HUMAN
  • I3L2S3_HUMAN
  • I3L3Z7_HUMAN
  • Q05BP1_HUMAN
genes like me logo Genes that share paralogs with MKL2: view

Variants for MKL2 Gene

Sequence variations from dbSNP and Humsavar for MKL2 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000017514 -- 14,086,960(+) T/C/G genic_upstream_transcript_variant, intron_variant
rs1000031293 -- 14,260,225(+) AAAAGAAAAG/AAAAG intron_variant
rs1000038937 -- 14,230,682(+) G/A intron_variant
rs1000047654 -- 14,263,866(+) C/G 3_prime_UTR_variant
rs1000067474 -- 14,172,888(+) G/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MKL2 Gene

Variant ID Type Subtype PubMed ID
esv2714006 CNV deletion 23290073
esv274988 CNV gain+loss 21479260
esv275519 CNV loss 21479260
esv3418476 CNV insertion 20981092
esv3435206 CNV insertion 20981092
esv3570309 CNV gain 25503493
esv3582014 CNV loss 25503493
esv3637999 CNV loss 21293372
nsv457423 CNV gain 19166990
nsv471977 CNV novel sequence insertion 20440878
nsv520888 CNV gain 19592680
nsv571507 CNV gain 21841781
nsv977112 CNV duplication 23825009

Variation tolerance for MKL2 Gene

Residual Variation Intolerance Score: 3.28% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.24; 40.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MKL2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MKL2 Gene

Disorders for MKL2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MKL2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
chondroid lipoma
chondrosarcoma, extraskeletal myxoid
  • emc
- elite association - COSMIC cancer census association via MalaCards
Search MKL2 in MalaCards View complete list of genes associated with diseases


  • Note=A chromosomal aberration involving C11orf95 is found in 3 chondroid lipomas. Translocation t(11;16)(q13;p13) with C11orf95 produces a C11orf95-MKL2 fusion protein (PubMed:20607705). {ECO:0000269 PubMed:20607705}.

Additional Disease Information for MKL2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MKL2: view

No data available for Genatlas for MKL2 Gene

Publications for MKL2 Gene

  1. Megakaryoblastic leukemia-1/2, a transcriptional co-activator of serum response factor, is required for skeletal myogenic differentiation. (PMID: 14565952) Selvaraj A … Prywes R (The Journal of biological chemistry 2003) 3 4 22 58
  2. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 58
  3. Linkage and candidate gene studies of autism spectrum disorders in European populations. (PMID: 20442744) Holt R … EU Autism MOLGEN Consortium (European journal of human genetics : EJHG 2010) 3 44 58
  4. C11orf95-MKL2 is the resulting fusion oncogene of t(11;16)(q13;p13) in chondroid lipoma. (PMID: 20607705) Huang D … Bridge JA (Genes, chromosomes & cancer 2010) 3 4 58
  5. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. (PMID: 21102462) Elks CE … Murray A (Nature genetics 2010) 3 44 58

Products for MKL2 Gene

Sources for MKL2 Gene

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