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Aliases for MRTFB Gene

Aliases for MRTFB Gene

  • Myocardin Related Transcription Factor B 2 3 5
  • 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
  • MRTF-B 3 4
  • MKL2 3 4
  • CTA-276F8.1 3
  • KIAA1243 4
  • NPD001 3

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 Chondrosarcoma, Extraskeletal Myxoid. An important paralog of this gene is MRTFA.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for MRTFB Gene

Genomics for MRTFB Gene

GeneHancer (GH) Regulatory Elements for MRTFB Gene

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 600.7 +0.3 265 2.4 ZNF652 ZFX MNT ZNF148 POLR2A ZNF121 CEBPG RERE ZNF687 AHR MRTFB ENSG00000276564
GH16J014200 Promoter 0.5 EPDnew 600.1 +129.0 128997 0.1 GC16P014200 TVP23CP2 ENSG00000262529 MRTFB
GH16J014240 Enhancer 0.8 Ensembl ENCODE 9.1 +169.3 169348 1.4 MAFK SP1 ZNF316 YY1 POLR2A KLF9 RAD21 HNF4A RXRA REST MRTFB GC16P014265 GC16P014200
GH16J014192 Enhancer 0.5 ENCODE 9.1 +122.2 122172 1.3 ZNF148 MLLT1 NBN IRF2 CTCF CEBPB RAD21 MRTFB ENSG00000262529 ENSG00000276564
GH16J013955 Enhancer 1.3 FANTOM5 ENCODE 3.5 -113.9 -113934 3.8 ZNF652 ELF3 ZNF148 NKRF CEBPG RERE ZNF687 ZSCAN21 AHR BACH1 ERCC4 PARN BFAR RPS26P52 PLA2G10 MRTFB ENSG00000263234 LINC02185
- 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 UCSC Golden Path with GeneCards custom track

Genomic Locations for MRTFB Gene

Genomic Locations for MRTFB Gene
chr16:14,071,321-14,266,776
(GRCh38/hg38)
Size:
195,456 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

Blocks:
InterPro:
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

Clone Products

  • Applied Biological Materials (abm): Clones for MRTFB - Now 50% OFF >
  • * MRTFB as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * MRTFB tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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
cytosol 2
extracellular 1
cytoskeleton 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) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(13) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for MRTFB Gene

MKL/myocardin-like 2:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for MRTFB - Now 50% OFF >
  • * MRTFB as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * MRTFB tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

No ASD Table

Relevant External Links for MRTFB Gene

GeneLoc Exon Structure for
MRTFB
ECgene alternative splicing isoforms for
MRTFB

Expression for MRTFB Gene

NURSA nuclear receptor signaling pathways regulating expression of MRTFB Gene:

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(4.1)
  • Muscle(2.4)
No Expression Related Data Available

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 35 34
  • 99.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MKL2 35 34
  • 88.23 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MKL2 35 34
  • 85.85 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mkl2 35 34
  • 83.04 (n)
OneToOne
Mrtfb 17
platypus
(Ornithorhynchus anatinus)
Mammalia MKL2 35
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MKL2 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves MKL2 35 34
  • 72.44 (n)
OneToOne
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 LOC100329890 34
  • 66.83 (n)
mkl2b 35
  • 47 (a)
OneToMany
MKL2 (1 of 3) 35
  • 47 (a)
OneToMany
mkl2a 35
  • 45 (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 MRTFB 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 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 from dbSNP and Humsavar for MRTFB 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/T 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 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

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

Disorder Aliases PubMed IDs
chondroid lipoma
chondrosarcoma, extraskeletal myxoid
  • emc
- 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}.

Additional Disease Information for MRTFB

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 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. 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
  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 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for MRTFB Gene

Sources for MRTFB Gene

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