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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
  • 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 Lipoma. 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

Enhancers for MKL2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16F014192 1.1 Ensembl ENCODE 9.1 +122.2 122159 1.4 HDGF BCOR CTCF WRNIP1 ZFP64 ZMYM3 ZNF384 RAD21 POLR2A ADNP MKL2 ENSG00000262529 ENSG00000276564
GH16F013955 1.7 FANTOM5 Ensembl ENCODE 3.5 -113.9 -113934 3.8 PKNOX1 SIN3A FEZF1 YBX1 ZNF2 SLC30A9 ZNF207 FOS ZNF263 MCM3 ENSG00000183458 NPIPA3 ERCC4 NPIPA2 RPS26P52 PLA2G10 MKL2 ENSG00000263234 LOC101927311
GH16F014056 0.6 ENCODE 6.1 -14.1 -14091 1.3 JUN RAD21 NR2F2 YY1 GATA3 ATF3 ZBTB33 FOS SETDB1 MKL2 LOC101927348
GH16F015034 0.7 ENCODE 4.1 +963.9 963918 2.1 CTCF ZNF687 JUN MNT KLF4 GATA3 POLR2A KLF9 ZBTB33 MYC LOC100505915 NPIPA5 NPIPA1 RRN3 NPIPA2 MKL2 PIR54636 NTAN1
GH16F014300 1.5 FANTOM5 ENCODE 1.6 +234.9 234878 10.9 HDGF PKNOX1 MLX WRNIP1 ZFP64 ARID4B SIN3A YBX1 DMAP1 ZNF2 MIR193BHG NPIPP1 MKL2 GC16P014304 MIR365A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MKL2 on UCSC Golden Path with GeneCards custom track

Promoters for MKL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000148147 279 2001 HDGF CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF48 BRCA1 ZNF2

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

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:
    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

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:0003713 transcription coactivator activity IDA 14565952
GO:0003779 actin binding IEA --
GO:0004864 protein phosphatase inhibitor activity 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

Inhibitory RNA Products

Flow Cytometry Products

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

COMPARTMENTS
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

Gene Ontology (GO) - Cellular Components for MKL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IC 14565952
GO:0005913 cell-cell adherens junction IDA 25468996
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

Activates:

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:0007275 multicellular organism development IEA --
GO:0007517 muscle organ development IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with MKL2: view

No data available for Pathways by source for MKL2 Gene

Transcripts for MKL2 Gene

mRNA/cDNA for MKL2 Gene

(17) 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:

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and 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, PaxDb, MaxQB, and MOPED for MKL2 Gene



Protein tissue co-expression partners for MKL2 Gene

NURSA nuclear receptor signaling pathways regulating expression of MKL2 Gene:

MKL2

SOURCE GeneReport for Unigene cluster for MKL2 Gene:

Hs.49143
genes like me logo Genes that share expression patterns with MKL2: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia MKL2 34 35
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia MKL2 34 35
  • 88.23 (n)
cow
(Bos Taurus)
Mammalia MKL2 34 35
  • 85.85 (n)
mouse
(Mus musculus)
Mammalia Mkl2 34 16 35
  • 83.04 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MKL2 35
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MKL2 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves MKL2 34 35
  • 72.44 (n)
lizard
(Anolis carolinensis)
Reptilia MKL2 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mkl2 34
  • 66.56 (n)
African clawed frog
(Xenopus laevis)
Amphibia mrtf-b-A 34
zebrafish
(Danio rerio)
Actinopterygii mkl2a 34 35
  • 66.83 (n)
MKL2 (1 of 3) 35
  • 47 (a)
OneToMany
mkl2b 35
  • 47 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Mrtf 35
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5092 35
  • 41 (a)
OneToMany
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

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
rs1003067 -- 14,154,994(-) TATGG(C/T)CTTGT intron-variant
rs1004637 -- 14,111,887(+) CTGCC(A/C)CACCC intron-variant
rs1010244 -- 14,230,018(-) tttta(A/T)tattt intron-variant
rs10523985 -- 14,092,021(+) AAAAA(-/A)GAATG intron-variant
rs10616011 -- 14,193,236(+) AAAAA(-/AAAA)GAATG intron-variant

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

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

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

Human Gene Mutation Database (HGMD)
MKL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
lipoma
  • lipomatosis, multiple
extraosseous chondrosarcoma
  • extraskeletal myxoid chondrosarcoma
chondrosarcoma, extraskeletal myxoid
  • extraskeletal myxoid chondrosarcoma
conotruncal heart malformations
  • double-outlet right ventricle
- elite association - COSMIC cancer census association via MalaCards
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. Megakaryoblastic leukemia-1/2, a transcriptional co-activator of serum response factor, is required for skeletal myogenic differentiation. (PMID: 14565952) Selvaraj A. … Prywes R. (J. Biol. Chem. 2003) 3 4 22 64
  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 Res. 1999) 2 3 4 64
  3. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. (PMID: 21102462) Elks C.E. … Murray A. (Nat. Genet. 2010) 3 46 64
  4. C11orf95-MKL2 is the resulting fusion oncogene of t(11;16)(q13;p13) in chondroid lipoma. (PMID: 20607705) Huang D. … Bridge J.A. (Genes Chromosomes Cancer 2010) 3 4 64
  5. Linkage and candidate gene studies of autism spectrum disorders in European populations. (PMID: 20442744) Holt R. … Monaco A.P. (Eur. J. Hum. Genet. 2010) 3 46 64

Products for MKL2 Gene

Sources for MKL2 Gene

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