Gene

mef2ca

ID

ZDB-GENE-980526-253

Name

myocyte enhancer factor 2ca

Symbol

mef2ca Nomenclature History

Previous Names

mef2c
hoo
hoover
id:ibd5026
wu:fc05b06
zgc:64184
zgc:85726

Type

protein_coding_gene

Location

Chr: 10 Mapping Details/Browsers

Description

Exhibits transcription regulatory region sequence-specific DNA binding activity. Involved in several processes, including animal organ development; ligamentous ossification; and skeletal muscle myosin thick filament assembly. Predicted to localize to nuclear chromatin. Human ortholog(s) of this gene implicated in autosomal dominant mental retardation 20. Is expressed in several structures, including brain; mesoderm; musculature system; pericardial region; and pharyngeal arch. Orthologous to human MEF2C (myocyte enhancer factor 2C).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

47 figures from 31 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:85726 (15 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 24 figures from 9 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With mef2ca 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 mef2ca 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
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	MADS MEF2-like	Transcription factor, MADS-box	Transcription factor, MADS-box superfamily
UniProtKB:Q6PCS3 InterPro	465
UniProtKB:A0A8M3AX72 InterPro	457
UniProtKB:A0A8M3AX99 InterPro	462
UniProtKB:A0A8M3B3N7 InterPro	473
UniProtKB:A0A8M2BGJ3 InterPro	449

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	mef2ca-201 Ensembl	Ensembl	3,502 nt	Select Tool
mRNA	mef2ca-202 (1) Ensembl	Ensembl	4,285 nt	Select Tool ZFIN BLAST
mRNA	mef2ca-203 Ensembl	Ensembl	3,567 nt	Select Tool
mRNA	mef2ca-204 Ensembl	Ensembl	6,164 nt	Select Tool
mRNA	mef2ca-205 Ensembl	Ensembl	393 nt	Select Tool
mRNA	mef2ca-206 Ensembl	Ensembl	318 nt	Select Tool
mRNA	mef2ca-207 Ensembl	Ensembl	393 nt	Select Tool

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