Aliases for MRTFB Gene

Aliases for MRTFB Gene

  • Myocardin Related Transcription Factor B 2 3 5
  • MRTF-B 2 3 4
  • Myocardin-Related Transcription Factor B 3 4
  • MKL And Myocardin Family Member 2 2 3
  • MKL/Myocardin-Like Protein 2 3 4
  • Megakaryoblastic Leukemia 2 3 4
  • MKL1/Myocardin Like 2 2 3
  • MKL/Myocardin Like 2 2 3
  • MKL2 3 4
  • CTA-276F8.1 3
  • FLJ31823 2
  • KIAA1243 4
  • NPD001 3
  • MRTFB 5

External Ids for MRTFB Gene

Previous HGNC Symbols for MRTFB Gene

  • MKL2

Summaries for MRTFB Gene

GeneCards Summary for MRTFB Gene

MRTFB (Myocardin Related Transcription Factor B) is a Protein Coding gene. Diseases associated with MRTFB include Chondroid Lipoma and Extraskeletal Chondroma. An important paralog of this gene is MRTFA.

UniProtKB/Swiss-Prot Summary for MRTFB Gene

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

Gene Wiki entry for MRTFB Gene

Additional gene information for MRTFB Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRTFB Gene

Genomics for MRTFB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MRTFB Gene
GeneHancer (GH) Identifier GH Type GH
Score
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 CraniofacialAtlas 600.7 +0.4 439 2.6 BRCA1 ARHGAP35 GATAD2A PRDM10 TFE3 ZNF692 RCOR2 BACH1 ZIC2 RBFOX2 MRTFB lnc-PARN-16 HSALNG0109718 PARN
GH16J014200 Promoter 0.3 EPDnew 600.1 +129.3 129256 0.1 ENSG00000262529 NONHSAG018666.2 TVP23CP2 MRTFB PARN
GH16J014103 Enhancer 0.8 Ensembl 9.3 +32.9 32915 6 GATAD2A ZNF629 REST RFX1 PRDM1 SP1 ZNF341 PKNOX1 CEBPA SOX13 ERCC4 RPS26P52 MRTFB HSALNG0109718 lnc-PARN-16 PARN
GH16J014192 Enhancer 0.6 ENCODE 9.1 +122.4 122431 1.3 RCOR1 CEBPB TCF12 NBN IRF2 CTCF MAZ SMARCA4 RAD21 ZNF148 MRTFB ENSG00000262529 L13714-167 PARN
GH16J013955 Enhancer 1.2 FANTOM5 ENCODE 3.5 -113.7 -113675 3.8 RNF2 CEBPG CREB1 GATAD2A PRDM10 ZNF629 RFX1 IKZF1 NFKBIZ ZNF692 ERCC4 PARN PKD1P3 NPIPA1 NPIPA3 BFAR RPS26P52 NPIPA2 PLA2G10 MRTFB
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MRTFB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRTFB

Genomic Locations for MRTFB Gene

Genomic Locations for MRTFB Gene
chr16:14,071,062-14,266,779
(GRCh38/hg38)
Size:
195,718 bases
Orientation:
Plus strand
chr16:14,165,178-14,360,630
(GRCh37/hg19)
Size:
195,453 bases
Orientation:
Plus strand

Genomic View for MRTFB Gene

Genes around MRTFB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MRTFB Gene

Proteins for MRTFB Gene

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

    Protein Symbol:
    Q9ULH7-MRTFB_HUMAN
    Recommended name:
    Myocardin-related transcription factor B
    Protein Accession:
    Q9ULH7
    Secondary Accessions:
    • A6ND53
    • B4DGT8
    • Q68CT1
    • Q6UB16
    • Q86WW2
    • Q8N226

    Protein attributes for MRTFB Gene

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

    Alternative splice isoforms for MRTFB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MRTFB Gene

Post-translational modifications for MRTFB Gene

No data available for DME Specific Peptides for MRTFB Gene

Domains & Families for MRTFB Gene

Gene Families for MRTFB Gene

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

Protein Domains for MRTFB Gene

InterPro:
Blocks:
  • DNA-binding SAP
ProtoNet:

Suggested Antigen Peptide Sequences for MRTFB Gene

GenScript: Design optimal peptide antigens:
  • MKL2 protein (A1L1A9_HUMAN)
  • cDNA FLJ61243, highly similar to MKL/myocardin-like protein 2 (B4DGT8_HUMAN)
  • Myocardin-related transcription factor B (MKL2_HUMAN)
  • MKL2 protein (Q05BP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9ULH7

UniProtKB/Swiss-Prot:

MRTFB_HUMAN :
  • The N-terminal region is required for nuclear localization and the C-terminal region mediates transcriptional activity.
Domain:
  • 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 MRTFB: view

Function for MRTFB Gene

Molecular function for MRTFB 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 MRTFB Gene

Gene Ontology (GO) - Molecular Function for MRTFB 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 HDA 25468996
genes like me logo Genes that share ontologies with MRTFB: view
genes like me logo Genes that share phenotypes with MRTFB: view

Animal Models for MRTFB Gene

MGI Knock Outs for MRTFB:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRTFB

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

Localization for MRTFB Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRTFB 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 MRTFB gene
Compartment Confidence
nucleus 5
extracellular 2
cytoskeleton 2
cytosol 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for MRTFB Gene

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

Pathways & Interactions for MRTFB Gene

PathCards logo

SuperPathways for MRTFB Gene

No Data Available

SIGNOR curated interactions for MRTFB Gene

Activates:

Gene Ontology (GO) - Biological Process for MRTFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007517 muscle organ development IEA --
GO:0030154 cell differentiation IEA --
GO:0032515 negative regulation of phosphoprotein phosphatase activity IEA --
GO:0045844 positive regulation of striated muscle tissue development IDA 14565952
genes like me logo Genes that share ontologies with MRTFB: view

No data available for Pathways by source for MRTFB Gene

Drugs & Compounds for MRTFB Gene

No Compound Related Data Available

Transcripts for MRTFB Gene

mRNA/cDNA for MRTFB Gene

13 REFSEQ mRNAs :
28 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRTFB

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

No ASD Table

Relevant External Links for MRTFB Gene

GeneLoc Exon Structure for
MRTFB

Expression for MRTFB Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRTFB

SOURCE GeneReport for Unigene cluster for MRTFB Gene:

Hs.49143

Evidence on tissue expression from TISSUES for MRTFB Gene

  • Nervous system(4.9)
  • Liver(4.3)
  • Muscle(2.8)
  • Heart(2.5)
  • Skin(2.2)
  • Kidney(2.2)
  • Bone marrow(2.1)
No Expression Related Data Available

Primer Products

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

Orthologs for MRTFB Gene

This gene was present in the common ancestor of animals.

Orthologs for MRTFB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MKL2 30 31
  • 99.56 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MKL2 30 31
  • 88.23 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MKL2 30 31
  • 85.85 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mkl2 30 31
  • 83.04 (n)
OneToOne
Mrtfb 17
Platypus
(Ornithorhynchus anatinus)
Mammalia MKL2 31
  • 75 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MKL2 31
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MKL2 30 31
  • 72.44 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MKL2 31
  • 59 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mkl2 30
  • 66.56 (n)
African clawed frog
(Xenopus laevis)
Amphibia mrtf-b-A 30
Zebrafish
(Danio rerio)
Actinopterygii mkl2a 30 31
  • 66.83 (n)
OneToMany
mkl2b 31
  • 47 (a)
OneToMany
MKL2 (1 of 3) 31
  • 47 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Mrtf 31
  • 15 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5092 31
  • 41 (a)
OneToMany
Species where no ortholog for MRTFB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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 MRTFB Gene

ENSEMBL:
Gene Tree for MRTFB (if available)
TreeFam:
Gene Tree for MRTFB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRTFB: view image

Paralogs for MRTFB Gene

Paralogs for MRTFB Gene

genes like me logo Genes that share paralogs with MRTFB: view

Variants for MRTFB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRTFB Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
710575 Likely Benign: not provided 14,245,640(+) T/C MISSENSE_VARIANT
710612 Likely Benign: not provided 14,246,577(+) C/T SYNONYMOUS_VARIANT
710820 Benign: not provided 14,140,747(+) C/T SYNONYMOUS_VARIANT
717395 Benign: not provided 14,140,633(+) C/T SYNONYMOUS_VARIANT
730801 Benign: not provided 14,247,199(+) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MRTFB Gene

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRTFB

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

Disorders for MRTFB Gene

MalaCards: The human disease database

(3) MalaCards diseases for MRTFB Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
chondroid lipoma
extraskeletal chondroma
  • soft tissue chondroma
microcephaly
  • microcephalus
- elite association - COSMIC cancer census association via MalaCards
Search MRTFB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MRTFB_HUMAN
  • Note=A chromosomal aberration involving C11orf95 is found in 3 chondroid lipomas. Translocation t(11;16)(q13;p13) with C11orf95 produces a C11orf95-MRTFB fusion protein (PubMed:20607705). {ECO:0000269 PubMed:20607705}.
genes like me logo Genes that share disorders with MRTFB: view

No data available for Genatlas for MRTFB Gene

Publications for MRTFB 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 23
  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
  3. 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
  4. 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 (The Journal of biological chemistry 2007) 3 23
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for MRTFB Gene

Sources for MRTFB Gene