Gene

mef2cb

ID
ZDB-GENE-040901-7
Name
myocyte enhancer factor 2cb
Symbol
mef2cb Nomenclature History
Previous Names
  • si:ch211-202e12.2 (1)
Type
protein_coding_gene
Location
Chr: 5 Mapping Details/Browsers
Description
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and histone deacetylase binding activity. Acts upstream of or within DNA-templated transcription and heart development. Predicted to be located in nucleus. Is expressed in several structures, including bone element; brain; cardiovascular system; mesoderm; and pharyngeal arch. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language. Orthologous to human MEF2C (myocyte enhancer factor 2C).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
37 figures from 22 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
5 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With mef2cb Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language Alliance Chromosome 5q14.3 deletion syndrome 613443
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language Alliance Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 613443
Associated With mef2cb Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR002100 Transcription factor, MADS-box
Domain IPR022102 Holliday junction regulator protein family C-terminal
Domain IPR033896 MADS MEF2-like
Homologous_superfamily IPR036879 Transcription factor, MADS-box superfamily
Domain Details Per Protein
Protein Length Holliday junction regulator protein family C-terminal MADS MEF2-like Transcription factor, MADS-box Transcription factor, MADS-box superfamily
UniProtKB:A0A2R8RQE8 81
UniProtKB:A0A076GH28 472
UniProtKB:B5A8L9 475
UniProtKB:A0A0R4ITE5 483
UniProtKB:F1QNL1 475
UniProtKB:A0A0U2S6D4 72
UniProtKB:A2BGA7 474
UniProtKB:A0A2R8QP40 472
UniProtKB:A0A0U3JR38 137
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab2-mef2 polyclonal IgG Rabbit
  • IHC
AnaSpec
4
Ab2-mef2c polyclonal Rabbit
  • WB
AnaSpec
2
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations