BAG5 Chromosome 14

BAG cochaperone 5

4 variants 4 Health Risk

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What This Gene Does

The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

BAG cochaperones

Locus Type

gene with protein product

Location

14q32.33

Ensembl

ENSG00000166170

Associated Conditions (3)

Cardiomyopathy

dilated

Key Variants

RS182208325

Likely pathogenic

Cardiomyopathy, dilated, 2F

Health Risk

RS2507436898

Likely pathogenic

Cardiomyopathy, Cardiomyopathy

Health Risk

RS2076070300

Pathogenic

Cardiomyopathy, dilated, 2F

Health Risk

RS906014476

Pathogenic

Cardiomyopathy, dilated, 2F

Health Risk

All Variants (4)

RSID	Category	Clinical Significance	Conditions
RS182208325	Health Risk	Likely pathogenic	Cardiomyopathy, dilated, 2F
RS2507436898	Health Risk	Likely pathogenic	Cardiomyopathy, Cardiomyopathy
RS2076070300	Health Risk	Pathogenic	Cardiomyopathy, dilated, 2F
RS906014476	Health Risk	Pathogenic	Cardiomyopathy, dilated, 2F