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

Gene ID: 4207, updated on 5-Aug-2022

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
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Genomic context

See BORCS8-MEF2B in Genome Data Viewer
Location:
19p13.11
Exon count:
13
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (19145567..19192152, complement)
110 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 solute carrier family 25 member 42 Neighboring gene Sharpr-MPRA regulatory region 5014 Neighboring gene transmembrane protein 161A Neighboring gene myocyte enhancer factor 2B Neighboring gene BLOC-1 related complex subunit 8 Neighboring gene Sharpr-MPRA regulatory region 11890 Neighboring gene regulatory factor X associated ankyrin containing protein Neighboring gene nuclear receptor 2C2 associated protein

Genomic regions, transcripts, and products

Expression

  • 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

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

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)

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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_005919.4NP_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
    G5E9M1, Q02080
    UniProtKB/TrEMBL
    A0A024R7N0
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)