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  2. MEF2B - myocyte enhancer factor 2B Gene

MEF2B - myocyte enhancer factor 2B Gene

Homo sapiens

Also known as RSRFR2

Gene ID: 100271849 | Gene type: protein coding

About MEF2B

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:19,145,567-19,170,263 (from NCBI)

This gene has 5 transcripts (splice variants), 192 orthologues and 4 paralogues. Broad expression in lymph node (RPKM 18.6), appendix (RPKM 7.2) and 17 other tissues.

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]

MEF2B Products(2)

mRNA Protein Name
NM_001145785.2 NP_001139257.1 myocyte-specific enhancer factor 2B isoform 1
NM_001367282.1 NP_001354211.1 myocyte-specific enhancer factor 2B isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
7760790 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
7760790 GOA
enables histone deacetylase binding IPI
IPI: Inferred from physical interaction
15567413 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12700764 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence Reference Source
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
7760790 GOA
Cellular Component GO Annotation Evidence Reference Source
part of transcription regulator complex IDA
IDA: Inferred from direct assay
15567413 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MEF2B Protein Structure

SRF-TF

SRF-TF: SRF-type transcription factor (DNA-binding and dimerisation domain) (10 - 59)

  • 0
  • 100
  • 200
  • 300
  • 368 a.a.
Protein Preferred Names Protein Names

myocyte-specific enhancer factor 2B

MADS box transcription enhancer factor 2, polypeptide B (myocyte enhancer factor 2B)

Related Diseases

Diseases Alias
Ezb Diffuse Large B-Cell Lymphoma

Ezb Dlbcl

Doid:0081065

St2 Diffuse Large B-Cell Lymphoma

St2 Dlbcl

Doid:0081068

Brachydactyly, Type E1

Brachydactyly Type E1

Brachydactyly Type E

BDE1

Brachydactyly, Type E

Bde

Type E Brachydactyly

Brachydactyly E1

Brachydactyly Syndrome Type E

Mcd Diffuse Large B-Cell Lymphoma

Mcd Dlbcl

Doid:0081066

High-Grade B-Cell Lymphoma Double-Hit/Triple-Hit

Hgbl-Dh/Th

High Grade B-Cell Lymphoma With Myc And Bcl2 Or Bcl6 Rearrangements

High Grade B-Cell Lymphoma With Myc And/ Or Bcl2 And/Or Bcl6 Rearrangement

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus MEF2B RGD RGD:1561733
Mus musculus MEF2B MGD MGI:104526
Felis catus MEF2B VGNC VGNC:102637
Canis familiaris MEF2B VGNC VGNC:108250