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Aliases for MKL2 Gene

Aliases for MKL2 Gene

  • MKL/Myocardin-Like 2 2 3
  • Myocardin-Related Transcription Factor B 3 4
  • Megakaryoblastic Leukemia 2 3 4
  • MRTF-B 3 4
  • MRTFB 3 4
  • KIAA1243 4
  • NPD001 3

External Ids for MKL2 Gene

Summaries for MKL2 Gene

GeneCards Summary for MKL2 Gene

MKL2 (MKL/Myocardin-Like 2) is a Protein Coding gene. Diseases associated with MKL2 include chondroid lipoma and extraosseous chondrosarcoma. 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

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

Genomics for MKL2 Gene

Regulatory Elements for MKL2 Gene

Genomic Location for MKL2 Gene

Chromosome:
16
Start:
14,071,321 bp from pter
End:
14,266,776 bp from pter
Size:
195,456 bases
Orientation:
Plus strand

Genomic View for MKL2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Q9ULH7-MKL2_HUMAN
    Recommended name:
    MKL/myocardin-like protein 2
    Protein Accession:
    Q9ULH7
    Secondary Accessions:
    • A6ND53
    • B4DGT8
    • Q68CT1
    • Q6UB16
    • Q86WW2
    • Q8N226

    Protein attributes for MKL2 Gene

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

    Alternative splice isoforms for MKL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MKL2 Gene

Proteomics data for MKL2 Gene at MOPED

Post-translational modifications for MKL2 Gene

No data available for DME Specific Peptides for MKL2 Gene

Domains & Families for MKL2 Gene

Protein Domains for MKL2 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9ULH7

UniProtKB/Swiss-Prot:

MKL2_HUMAN :
  • The N-terminal region is required for nuclear localization and the C-terminal region mediates transcriptional activity.
  • Contains 3 RPEL repeats.
Domain:
  • The N-terminal region is required for nuclear localization and the C-terminal region mediates transcriptional activity.
  • Contains 1 SAP domain.
Similarity:
  • Contains 3 RPEL repeats.
genes like me logo Genes that share domains with MKL2: view

No data available for Gene Families for MKL2 Gene

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.

Gene Ontology (GO) - Molecular Function for MKL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001105 RNA polymerase II transcription coactivator activity IBA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0003713 transcription coactivator activity IDA 14565952
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 12397177
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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MKL2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
Jensen Localization Image for MKL2 Gene COMPARTMENTS Subcellular localization image for MKL2 gene
Compartment Confidence
nucleus 4
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for MKL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IC 14565952
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with MKL2: view

Pathways & Interactions for MKL2 Gene

SuperPathways for MKL2 Gene

No Data Available

SIGNOR curated interactions for MKL2 Gene

Activates:

Gene Ontology (GO) - Biological Process for MKL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0001889 liver development IEA --
GO:0003007 heart morphogenesis IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0007507 heart development --
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

mRNA/cDNA for MKL2 Gene

(13) REFSEQ mRNAs :
(25) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(13) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MKL2 Gene

MKL/myocardin-like 2:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MKL2

Flow Cytometry Products

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: - - - - - - -
SP2:
SP3: -
SP4: -
SP5:
SP6: -
SP7:
SP8:

Relevant External Links for MKL2 Gene

GeneLoc Exon Structure for
MKL2
ECgene alternative splicing isoforms for
MKL2

Expression for MKL2 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for MKL2 Gene



SOURCE GeneReport for Unigene cluster for MKL2 Gene Hs.49143

genes like me logo Genes that share expression patterns with MKL2: view

Protein tissue co-expression partners for MKL2 Gene

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia MKL2 35
  • 85.85 (n)
  • 87.51 (a)
MKL2 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MKL2 35
  • 88.23 (n)
  • 90.59 (a)
MKL2 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mkl2 35
  • 83.04 (n)
  • 84.27 (a)
Mkl2 16
Mkl2 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MKL2 35
  • 99.56 (n)
  • 99.9 (a)
MKL2 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MKL2 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MKL2 36
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves MKL2 35
  • 72.44 (n)
  • 73.72 (a)
MKL2 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MKL2 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mkl2 35
  • 66.56 (n)
  • 65.44 (a)
African clawed frog
(Xenopus laevis)
Amphibia mrtf-b-A 35
zebrafish
(Danio rerio)
Actinopterygii mkl2a 35
  • 66.83 (n)
  • 70.53 (a)
MKL2 (1 of 3) 36
  • 47 (a)
OneToMany
mkl2a 36
  • 45 (a)
OneToMany
mkl2b 36
  • 47 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Mrtf 36
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5092 36
  • 41 (a)
OneToMany
Species with no ortholog for MKL2:
  • 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

ENSEMBL:
Gene Tree for MKL2 (if available)
TreeFam:
Gene Tree for MKL2 (if available)

Paralogs for MKL2 Gene

Paralogs for MKL2 Gene

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

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 Sequence Context AA Info Type MAF
rs30122 -- 14,265,376(+) AACAT(A/T)AACTG utr-variant-3-prime
rs30123 -- 14,265,348(+) CCACA(A/G)AATTA utr-variant-3-prime
rs30124 -- 14,260,177(-) CTTGT(C/T)TTCTG intron-variant
rs30125 -- 14,260,804(+) CGTGC(A/G)TAGAA intron-variant
rs30126 -- 14,261,908(+) AGAGA(C/T)GGCCG utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv457423 CNV Gain 19166990
esv2714006 CNV Deletion 23290073
nsv520888 CNV Gain 19592680
esv274988 CNV Gain+Loss 21479260
esv275519 CNV Loss 21479260

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)

Relevant External Links for MKL2 Gene

HapMap Linkage Disequilibrium report
MKL2
Human Gene Mutation Database (HGMD)
MKL2

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

Disorders for MKL2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MKL2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
chondroid lipoma
extraosseous chondrosarcoma
  • extraskeletal myxoid chondrosarcoma
chondrosarcoma, extraskeletal myxoid
  • extraskeletal myxoid chondrosarcoma
lipoma
  • lipomatous neoplasm
conotruncal heart malformations
  • double-outlet right ventricle
- elite association
Search MKL2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MKL2_HUMAN
  • 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}.

Relevant External Links for MKL2

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

No data available for Genatlas for MKL2 Gene

Publications for MKL2 Gene

  1. Regulation of STARS and its downstream targets suggest a novel pathway involved in human skeletal muscle hypertrophy and atrophy. (PMID: 19255118) Lamon S. … Russell A.P. (J. Physiol. (Lond.) 2009) 23 67
  2. Control of phenotypic plasticity of smooth muscle cells by bone morphogenetic protein signaling through the myocardin-related transcription factors. (PMID: 17947237) Lagna G. … Hata A. (J. Biol. Chem. 2007) 23 67
  3. Platelet-derived growth factor-BB represses smooth muscle cell marker genes via changes in binding of MKL factors and histone deacetylases to their promoters. (PMID: 16987998) Yoshida T. … Owens G.K. (Am. J. Physiol., Cell Physiol. 2007) 23 67
  4. Diaphanous 1 and 2 regulate smooth muscle cell differentiation by activating the myocardin-related transcription factors. (PMID: 17170370) Staus D.P. … Mack C.P. (Arterioscler. Thromb. Vasc. Biol. 2007) 23 67
  5. Megakaryoblastic leukemia 1, a potent transcriptional coactivator for serum response factor (SRF), is required for serum induction of SRF target genes. (PMID: 12944485) Cen B. … Prywes R. (Mol. Cell. Biol. 2003) 23 67

Products for MKL2 Gene

Sources for MKL2 Gene

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