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MEF2B myocyte enhancer factor 2B [ Homo sapiens (human) ]

Gene ID: 100271849, updated on 3-May-2020

Summary

Official Symbol
MEF2Bprovided by HGNC
Official Full Name
myocyte enhancer factor 2Bprovided by HGNC
Primary source
HGNC:HGNC:6995
See related
Ensembl:ENSG00000213999 MIM:600661
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
RSRFR2
Summary
The product of this gene is a member of the MADS/MEF2 family of DNA binding proteins. The protein is thought to regulate gene expression, including expression of the smooth muscle myosin heavy chain gene. This region undergoes considerable alternative splicing, with transcripts supporting two non-overlapping loci (GeneID 729991 and 100271849) as well as numerous read-through transcripts that span both loci (annotated as GeneID 4207). Several isoforms of this protein are expressed from either this locus or from some of the read-through transcripts annotated on GeneID 4207. [provided by RefSeq, Jan 2014]
Expression
Broad expression in lymph node (RPKM 18.6), appendix (RPKM 7.2) and 17 other tissues See more
Orthologs

Genomic context

See MEF2B in Genome Data Viewer
Location:
19p13.11
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (19145567..19170263, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (19256376..19281098, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 25 member 42 Neighboring gene transmembrane protein 161A Neighboring gene BORCS8-MEF2B readthrough Neighboring gene BLOC-1 related complex subunit 8 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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Readthrough BORCS8-MEF2B

Readthrough gene: BORCS8-MEF2B, Included gene: BORCS8

Homology

Clone Names

  • FLJ32648

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
myocyte-specific enhancer factor 2B
Names
MADS box transcription enhancer factor 2, polypeptide B (myocyte enhancer factor 2B)
serum response factor-like protein 2

NCBI Reference Sequences (RefSeq)

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_001145785.2NP_001139257.1  myocyte-specific enhancer factor 2B isoform 1

    See identical proteins and their annotated locations for NP_001139257.1

    Status: VALIDATED

    Source sequence(s)
    AC002126, AI499707, DA488022
    Consensus CDS
    CCDS46024.1
    UniProtKB/Swiss-Prot
    Q02080
    UniProtKB/TrEMBL
    A0A024R7K5
    Related
    ENSP00000402154.2, ENST00000424583.7
    Conserved Domains (1) 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 ...
  2. NM_001367282.1NP_001354211.1  myocyte-specific enhancer factor 2B isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC002126
    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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    19145567..19170263 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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