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Aliases for BORCS8-MEF2B Gene

Aliases for BORCS8-MEF2B Gene

  • BORCS8-MEF2B Readthrough 2 3 5
  • MEF2BNB-MEF2B Readthrough 2 3
  • LOC729991-MEF2B Readthrough 3
  • Myocyte Enhancer Factor 2B 3
  • LOC729991-MEF2B 3
  • MEF2BNB-MEF2B 3
  • MEF2B 3

External Ids for BORCS8-MEF2B Gene

Previous HGNC Symbols for BORCS8-MEF2B Gene

  • MEF2BNB-MEF2B

Summaries for BORCS8-MEF2B Gene

Entrez Gene Summary for BORCS8-MEF2B Gene

  • This gene represents numerous read-through transcripts that span GeneID:729991 and 100271849. Many read-through transcripts are predicted to be nonsense-mediated decay (NMD) candidates, and are thought to be non-coding. Some transcripts are predicted to be capable of translation reinitiation at a downstream AUG, resulting in expression of at least one isoform of myocyte enhancer factor 2B (MEF2B) from this read-through locus. At least one additional MEF2B variant and isoform can be expressed from a downstream promoter, and is annotated on GeneID:100271849. [provided by RefSeq, Oct 2010]

GeneCards Summary for BORCS8-MEF2B Gene

BORCS8-MEF2B (BORCS8-MEF2B Readthrough) is a Protein Coding gene. Among its related pathways are Apelin signaling pathway and Adipogenesis. An important paralog of this gene is MEF2B.

Gene Wiki entry for BORCS8-MEF2B Gene

Additional gene information for BORCS8-MEF2B Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BORCS8-MEF2B Gene

Genomics for BORCS8-MEF2B Gene

GeneHancer (GH) Regulatory Elements for BORCS8-MEF2B Gene

Promoters and enhancers for BORCS8-MEF2B 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
GH19J019191 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 -0.1 -60 2.9 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 BORCS8 BORCS8-MEF2B RFXANK UPF1 ATP13A1 ENSG00000268030 MAU2 NR2C2AP IQCN ZNF90
GH19J019031 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 10.2 +159.2 159215 3.1 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B E2F8 ARMC6 SUGP2 ATP13A1 TMEM161A MEF2B ENSG00000268030 NR2C2AP ENSG00000268938 UPF1 ENSG00000269191
GH19J019342 Enhancer 1 ENCODE dbSUPER 11.3 -150.3 -150286 0.2 CTCF USF1 RB1 ARID4B MAX SIN3A ZNF2 KDM3A THRB RAD21 GC19M019332 GATAD2A HAPLN4 BORCS8 BORCS8-MEF2B RFXANK MEF2B GC19P020579 MAU2
GH19J019039 Enhancer 1 Ensembl ENCODE 10.6 +152.4 152417 2.1 FOXA2 ARID4B RAD21 YY1 ZNF614 RXRA REST TGIF2 SP1 NFIL3 TMEM161A SLC25A42 MEF2B BORCS8 BORCS8-MEF2B RFXANK HOMER3 HAPLN4 ARMC6 SUGP2
GH19J019094 Enhancer 0.9 ENCODE 10.8 +96.6 96588 3.7 FOXA2 MLX ARID4B DMAP1 ZNF48 ETS1 YY1 TCF12 SLC30A9 ATF7 SLC25A42 TMEM161A MEF2B BORCS8 BORCS8-MEF2B RFXANK ARMC6 GC19P020576
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BORCS8-MEF2B on UCSC Golden Path with GeneCards custom track

Genomic Locations for BORCS8-MEF2B Gene

Genomic Locations for BORCS8-MEF2B Gene
chr19:19,145,567-19,192,591
(GRCh38/hg38)
Size:
47,025 bases
Orientation:
Minus strand
chr19:19,256,376-19,303,400
(GRCh37/hg19)
Size:
47,025 bases
Orientation:
Minus strand

Genomic View for BORCS8-MEF2B Gene

Genes around BORCS8-MEF2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BORCS8-MEF2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BORCS8-MEF2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BORCS8-MEF2B Gene

Proteins for BORCS8-MEF2B Gene

  • Protein details for BORCS8-MEF2B Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    H3BNR1-H3BNR1_HUMAN
    Recommended name:
    BORCS8-MEF2B readthrough
    Protein Accession:
    H3BNR1

    Protein attributes for BORCS8-MEF2B Gene

    Size:
    382 amino acids
    Molecular mass:
    40459 Da
    Quaternary structure:
    No Data Available

neXtProt entry for BORCS8-MEF2B Gene

Post-translational modifications for BORCS8-MEF2B Gene

No Post-translational modifications

Other Protein References for BORCS8-MEF2B Gene

No data available for DME Specific Peptides for BORCS8-MEF2B Gene

Domains & Families for BORCS8-MEF2B Gene

Gene Families for BORCS8-MEF2B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BORCS8-MEF2B Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BORCS8-MEF2B: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for BORCS8-MEF2B Gene

Function for BORCS8-MEF2B Gene

Phenotypes From GWAS Catalog for BORCS8-MEF2B Gene

Gene Ontology (GO) - Molecular Function for BORCS8-MEF2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with BORCS8-MEF2B: view
genes like me logo Genes that share phenotypes with BORCS8-MEF2B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BORCS8-MEF2B

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for BORCS8-MEF2B Gene

Localization for BORCS8-MEF2B 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 BORCS8-MEF2B gene
Compartment Confidence
cytosol 5
nucleus 3
lysosome 3

Gene Ontology (GO) - Cellular Components for BORCS8-MEF2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with BORCS8-MEF2B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for BORCS8-MEF2B Gene

Pathways & Interactions for BORCS8-MEF2B Gene

genes like me logo Genes that share pathways with BORCS8-MEF2B: view

Pathways by source for BORCS8-MEF2B Gene

2 BioSystems pathways for BORCS8-MEF2B Gene
2 KEGG pathways for BORCS8-MEF2B Gene

Interacting Proteins for BORCS8-MEF2B Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000457957%0d%0a9606.ENSP00000225328%0d%0a9606.ENSP00000340995%0d%0a
Selected Interacting proteins: ENSP00000457957 for BORCS8-MEF2B Gene via STRING

GPS-Prot Interaction Network for BORCS8-MEF2B

Gene Ontology (GO) - Biological Process for BORCS8-MEF2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0045944 positive regulation of transcription by RNA polymerase II IEA --
genes like me logo Genes that share ontologies with BORCS8-MEF2B: view

No data available for SIGNOR curated interactions for BORCS8-MEF2B Gene

Drugs & Compounds for BORCS8-MEF2B Gene

No Compound Related Data Available

Transcripts for BORCS8-MEF2B Gene

mRNA/cDNA for BORCS8-MEF2B Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BORCS8-MEF2B

Alternative Splicing Database (ASD) splice patterns (SP) for BORCS8-MEF2B Gene

No ASD Table

Relevant External Links for BORCS8-MEF2B Gene

GeneLoc Exon Structure for
BORCS8-MEF2B
ECgene alternative splicing isoforms for
BORCS8-MEF2B

Expression for BORCS8-MEF2B Gene

Evidence on tissue expression from TISSUES for BORCS8-MEF2B Gene

  • Nervous system(4.6)
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 BORCS8-MEF2B Gene

Orthologs for BORCS8-MEF2B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for BORCS8-MEF2B Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 55 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 48 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 34
  • 46 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii mef2b 34
  • 53 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2586 33
worm
(Caenorhabditis elegans)
Secernentea mef-2 34
  • 29 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMP1 34
  • 14 (a)
ManyToMany
RLM1 34
  • 10 (a)
ManyToMany
corn
(Zea mays)
Liliopsida Zm.1104 33
Species where no ortholog for BORCS8-MEF2B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for BORCS8-MEF2B Gene

ENSEMBL:
Gene Tree for BORCS8-MEF2B (if available)
TreeFam:
Gene Tree for BORCS8-MEF2B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BORCS8-MEF2B: view image

Paralogs for BORCS8-MEF2B Gene

Paralogs for BORCS8-MEF2B Gene

genes like me logo Genes that share paralogs with BORCS8-MEF2B: view

Variants for BORCS8-MEF2B Gene

Sequence variations from dbSNP and Humsavar for BORCS8-MEF2B Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1050483 likely-benign, MHC Class II Deficiency 19,192,993(-) T/C upstream_transcript_variant
rs116660619 likely-benign, MHC Class II Deficiency 19,192,338(-) C/A 5_prime_UTR_variant, non_coding_transcript_variant
rs201778172 uncertain-significance, MHC Class II Deficiency 19,194,146(-) C/T upstream_transcript_variant
rs34282046 likely-benign, benign, MHC Class II Deficiency, not specified 19,194,090(-) G/C upstream_transcript_variant
rs573479798 uncertain-significance, MHC Class II Deficiency 19,192,406(-) C/T 5_prime_UTR_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for BORCS8-MEF2B Gene

Variant ID Type Subtype PubMed ID
dgv1730n106 CNV deletion 24896259
esv1336135 CNV deletion 17803354
esv2677504 CNV deletion 23128226
esv2718291 CNV deletion 23290073
esv3093790 CNV deletion 24192839
esv3556145 CNV deletion 23714750
esv3643846 CNV loss 21293372
esv5981 CNV loss 19470904
nsv1134765 CNV deletion 24896259
nsv1151217 CNV deletion 26484159
nsv819543 CNV gain 19587683
nsv833779 CNV loss 17160897

Variation tolerance for BORCS8-MEF2B Gene

Residual Variation Intolerance Score: 28.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.28; 6.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BORCS8-MEF2B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BORCS8-MEF2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BORCS8-MEF2B Gene

Disorders for BORCS8-MEF2B Gene

No disorders were found for BORCS8-MEF2B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BORCS8-MEF2B Gene

Publications for BORCS8-MEF2B Gene

  1. Human SRF-related proteins: DNA-binding properties and potential regulatory targets. (PMID: 1748287) Pollock R … Treisman R (Genes & development 1991) 3 22 58
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PMID: 23382691) Lauc G … Rudan I (PLoS genetics 2013) 3 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 58
  5. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PMID: 20967262) Prakash T … Taylor TD (PloS one 2010) 3 58

Products for BORCS8-MEF2B Gene

Sources for BORCS8-MEF2B Gene

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