Target intelligence / Profile preview

Family with sequence similarity 13 member B (FAM13B)

Target
FAM13B
Molecular classification
Other (member of the Rho GTPase-activating protein superfamily; not a canonical enzyme or receptor, and not confirmed to have functional GAP activity)
01

Overview

Family with sequence similarity 13 member B (FAM13B) is a ubiquitously expressed human protein, encoded by the FAM13B gene located on chromosome 5q31, and is a poorly characterized member of the Rho GTPase-activating protein (RhoGAP) superfamily. Although it possesses a RhoGAP-like domain, FAM13B lacks key catalytic residues and does not demonstrate canonical GAP enzymatic activity. Its protein is mainly localized in the nucleoplasm and cytosol, and it is involved in the regulation of small GTPase signaling pathways that affect cytoskeletal dynamics and possibly other cell functions. Changes in FAM13B expression regulate gene expression profiles in cardiomyocytes and are associated with increased susceptibility to atrial arrhythmias, such as atrial fibrillation. FAM13B is also recurrently deleted in some cancers, including malignant myelomas, suggesting a broader relevance for disease. Currently, no direct interacting drugs or targeted mechanisms of action are known for FAM13B, and it is not established as a classical therapeutic target.

Other names
FAM13BC5orf5FAM13B1N61KHCHPARHGAP49GAP-like protein N61protein FAM13Bfamily with sequence similarity 13, member B1
02

Biological functions

Regulation of small GTPase-mediated signal transductionPutative GTPase activator activity (most evidence for regulatory—rather than catalytic—function)Cell cytoskeletal organizationGrowthDifferentiationNeuronal developmentPossibly DNA replication and repair
03

Disease associations

Cardiovascular disease (notably atrial fibrillation susceptibility)Cancer (frequently deleted in malignant myelomas)
04

Biomarkers

rs17171731 SNP variant is a genetic marker for atrial fibrillation risk mediated through FAM13B expression

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