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

39 figures from 24 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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
Family	IPR050142	MADS-box/MEF2 Transcription Factor
Homologous_superfamily	IPR036879	Transcription factor, MADS-box superfamily

Domain Details Per Protein

Protein	Length	Holliday junction regulator protein family C-terminal	MADS-box/MEF2 Transcription Factor	Transcription factor, MADS-box	Transcription factor, MADS-box superfamily
UniProtKB:B5A8L9 InterPro	475
UniProtKB:A0A8M6Z0P2 InterPro	466
UniProtKB:A0A2R8QP40 InterPro	472
UniProtKB:F1QNL1 InterPro	475
UniProtKB:A0A8M6Z6Z1 InterPro	480
UniProtKB:A0A8M3ASR6 InterPro	463
UniProtKB:A0A8M3ASM1 InterPro	471
UniProtKB:A2BGA7 InterPro	474
UniProtKB:A0A8M3B9V7 InterPro	483
UniProtKB:A0A8M3B2S1 InterPro	483

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	mef2cb-201 (1) Ensembl	Ensembl	1,534 nt	Select Tool ZFIN BLAST
mRNA	mef2cb-202 (1) Ensembl	Ensembl	1,580 nt	Select Tool ZFIN BLAST
mRNA	mef2cb-204 (1) Ensembl	Ensembl	5,638 nt	Select Tool ZFIN BLAST
mRNA	mef2cb-205 (1) Ensembl	Ensembl	5,988 nt	Select Tool ZFIN BLAST
mRNA	mef2cb-206 (1) Ensembl	Ensembl	805 nt	Select Tool ZFIN BLAST
mRNA	mef2cb-207 (1) Ensembl	Ensembl	5,979 nt	Select Tool ZFIN BLAST
mRNA	mef2cb-208 (1) Ensembl	Ensembl	5,888 nt	Select Tool ZFIN BLAST
mRNA	mef2cb-209 (1) Ensembl	Ensembl	5,683 nt	Select Tool ZFIN BLAST
ncRNA	mef2cb-002 (1) Ensembl	Ensembl	807 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab2-mef2	polyclonal	mef2aa mef2ca mef2cb mef2d	IgG	Rabbit	IHC	AnaSpec	5
Ab2-mef2c	polyclonal	mef2ca mef2cb		Rabbit	WB	AnaSpec	2

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations