U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    BORCS8-MEF2B BORCS8-MEF2B readthrough [ Homo sapiens (human) ]

    Gene ID: 4207, updated on 19-Sep-2024

    Summary

    Official Symbol
    BORCS8-MEF2Bprovided by HGNC
    Official Full Name
    BORCS8-MEF2B readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:39979
    See related
    Ensembl:ENSG00000213999 AllianceGenome:HGNC:39979
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MEF2B; RSRFR2; MEF2BNB-MEF2B; LOC729991-MEF2B
    Summary
    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]
    Expression
    Broad expression in lymph node (RPKM 13.3), appendix (RPKM 6.5) and 24 other tissues See more
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BORCS8-MEF2B in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (19145567..19192152, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (19282103..19328701, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (19256376..19302961, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10430 Neighboring gene solute carrier family 25 member 42 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:19198769-19199269 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19205587-19206086 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:19207400-19208599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10431 Neighboring gene Sharpr-MPRA regulatory region 5014 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:19230026-19230212 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19230180-19230759 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19230760-19231338 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19231339-19231917 Neighboring gene transmembrane protein 161A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19248669-19249530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14337 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14338 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10433 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14339 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19271207-19272182 Neighboring gene myocyte enhancer factor 2B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14340 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19281232-19281995 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10435 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19282939-19283545 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19285189-19285690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19296281-19296782 Neighboring gene BLOC-1 related complex subunit 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14342 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:19305905-19306056 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:19313199-19313465 Neighboring gene Sharpr-MPRA regulatory region 11890 Neighboring gene regulatory factor X associated ankyrin containing protein Neighboring gene Sharpr-MPRA regulatory region 3423 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr19:19324416-19324916 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr19:19324917-19325417 Neighboring gene nuclear receptor 2C2 associated protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10436 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14343 Neighboring gene neurocan Neighboring gene RNA, U6 small nuclear 1028, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Phenotypes

    EBI GWAS Catalog

    Description
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in muscle organ development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
     
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of transcription regulator complex IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    myocyte-specific enhancer factor 2B
    Names
    LOC729991-MEF2B readthrough
    MEF2BNB-MEF2B readthrough
    myocyte enhancer factor 2B
    serum response factor-like protein 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_005919.4NP_005910.1  myocyte-specific enhancer factor 2B isoform b

      See identical proteins and their annotated locations for NP_005910.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) lacks two alternate exons in the 5' region and one alternate exon in the 3' region, compared to variant 2. This variant is thought to be protein coding because translation can reinitiate at the downstream AUG, resulting in expression of an isoform of MEF2B (geneID:100271849). Isoform b has a shorter and distinct C-terminus, compared to MEF2A isoform a (NP_001139257.1).
      Source sequence(s)
      AC002126, X68502
      UniProtKB/Swiss-Prot
      A0AV80, B4DVH7, B7ZVY1, G5E9M1, Q02080
      UniProtKB/TrEMBL
      H3BNR1
      Related
      ENSP00000390762.2, ENST00000444486.7
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      cl26464
      Location:123364
      Atrophin-1; Atrophin-1 family

    RNA

    1. NR_027307.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents the longest transcript. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in NM_001145784.1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK301086, X63380, X68502
    2. NR_027308.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 3' region, compared to variant 2. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in NM_001145784.1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC002126, X63380, X68502

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      19145567..19192152 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      19282103..19328701 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)