Gene

bag3

ID

ZDB-GENE-040801-40

Name

BCL2 associated athanogene 3

Symbol

bag3 Nomenclature History

Previous Names

zgc:100859

Type

protein_coding_gene

Location

Chr: 13 Mapping Details/Browsers

Description

Predicted to enable adenyl-nucleotide exchange factor activity and protein-folding chaperone binding activity. Acts upstream of or within several processes, including cardiac ventricle development; heart contraction; and skeletal muscle tissue development. Located in Z disc. Is expressed in fast muscle cell; heart; muscle; and slow muscle cell. Used to study cardiomyopathy; dilated cardiomyopathy; and myofibrillar myopathy 6. Human ortholog(s) of this gene implicated in dilated cardiomyopathy 1HH and myofibrillar myopathy 6. Orthologous to human BAG3 (BAG cochaperone 3).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

8 figures from 4 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: 25 figures from 7 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With bag3 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal dominant distal hereditary motor neuronopathy 15	Alliance	?Neuronopathy, distal hereditary motor, autosomal dominant 15	621094
Charcot-Marie-Tooth disease axonal type 2JJ	Alliance	Charcot-Marie-Tooth disease, axonal, type 2JJ	621095
dilated cardiomyopathy 1HH	Alliance	Cardiomyopathy, dilated, 1HH	613881
myofibrillar myopathy 6	Alliance	Myopathy, myofibrillar, 6	612954

Associated With bag3 Via Experimental Models

Human Disease	Fish	Conditions	Citations
cardiomyopathy	bag3^xu083/xu083	standard conditions	Ding et al., 2022
myofibrillar myopathy 6	WT + MO4-bag3	standard conditions	Ruparelia et al., 2014
myofibrillar myopathy 6	WT + MO3-bag3 + MO4-bag3	standard conditions	Ruparelia et al., 2014
myofibrillar myopathy 6	bag3^mnu10/mnu10 (TL, TU)	standard conditions	Ruparelia et al., 2020
dilated cardiomyopathy	bag3^xu083/xu083	standard conditions	Ding et al., 2019

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR001202	WW domain
Domain	IPR003103	BAG domain
Family	IPR039773	Molecular chaperone regulator BAG
Homologous_superfamily	IPR036020	WW domain superfamily
Homologous_superfamily	IPR036533	BAG domain superfamily

Domain Details Per Protein

Protein	Additional Resources	Length	BAG domain	BAG domain superfamily	Molecular chaperone regulator BAG	WW domain	WW domain superfamily
UniProtKB:Q6DC38	InterPro	459
UniProtKB:A0A8M1N1F2	InterPro	480

Transcripts

Genome Browsers

NCBI

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	bag3-201 (1) Ensembl	Ensembl		2,239 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations