Gene

myl2b

ID

ZDB-GENE-060331-137

Name

myosin, light chain 2b, regulatory, cardiac, slow

Symbol

myl2b Nomenclature History

Previous Names

mlc2b (1)
myl2
zgc:136848

Type

protein_coding_gene

Location

Chr: 8 Mapping Details/Browsers

Description

Predicted to enable calcium ion binding activity. Acts upstream of or within heart morphogenesis. Predicted to be active in myofibril. Is expressed in several structures, including brain; eye; gill; heart; and musculature system. Human ortholog(s) of this gene implicated in familial hypertrophic cardiomyopathy and hypertrophic cardiomyopathy 10. Orthologous to human MYL2 (myosin light chain 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

6 figures from 2 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: 2 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With myl2b Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
hypertrophic cardiomyopathy 10	Alliance	Cardiomyopathy, hypertrophic, 10	608758
infantile-onset myofibrillar myopathy 12 with cardiomyopathy	Alliance	Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy	619424

Associated With myl2b Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Binding_site	IPR018247	EF-Hand 1, calcium-binding site
Domain	IPR002048	EF-hand domain
Family	IPR050403	Myosin regulatory light chain
Homologous_superfamily	IPR011992	EF-hand domain pair