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

Gene ID: 4207, updated on 23-Nov-2023

Summary

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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
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Genomic context

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See BORCS8-MEF2B in Genome Data Viewer
Location:
19p13.11
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (19145567..19192152, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (19282103..19328701, complement)
105.20220307 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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

Bibliography

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Related articles in PubMed

  1. Sequence-specific recruitment of transcriptional co-repressor Cabin1 by myocyte enhancer factor-2. Han A, et al. Nature, 2003 Apr 17. PMID 12700764
  2. Human SRF-related proteins: DNA-binding properties and potential regulatory targets. Pollock R, et al. Genes Dev, 1991 Dec. PMID 1748287
  3. Human myocyte-specific enhancer factor 2 comprises a group of tissue-restricted MADS box transcription factors. Yu YT, et al. Genes Dev, 1992 Sep. PMID 1516833
  4. Apoptosis of T cells mediated by Ca2+-induced release of the transcription factor MEF2. Youn HD, et al. Science, 1999 Oct 22. PMID 10531067
  5. Regulatory role of MEF2D in serum induction of the c-jun promoter. Han TH, et al. Mol Cell Biol, 1995 Jun. PMID 7760790, Free PMC Article

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription factor activity NAS
Non-traceable Author Statement
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables histone deacetylase binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables histone deacetylase binding IPI
Inferred from Physical Interaction
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein dimerization activity IEA
Inferred from Electronic Annotation
more info
  
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
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
  
part_of 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

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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)

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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_005919.4 → NP_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:2 → 78
    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:123 → 364
    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_2023_10

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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q02080.2 GenPept UniProtKB/Swiss-Prot:Q02080

Gene LinkOut

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Chemical Information
Molecular Biology Databases
Research Materials
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