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6 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CDC42BPG
CDC42 binding protein kinase gamma
Chromosome 11 · 11q13.1
NCBI Gene: 55561Ensembl: ENSG00000171219.10HGNC: HGNC:29829UniProt: Q6DT37
29PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
magnesium ion bindingcell leading edgeprotein serine/threonine kinase activityprotein bindingacneneurodegenerative diseasegoutadolescent idiopathic scoliosis
✦AI Summary

CDC42BPG (CDC42 binding protein kinase gamma, also known as MRCKgamma) is a serine/threonine kinase that functions as a downstream effector of CDC42 in cytoskeletal reorganization and cell motility. The protein contains magnesium and ATP binding domains and localizes to the cell cytoskeleton and leading edge, where it regulates actomyosin contractility through phosphorylation of MYPT1 and MLC2 1. CDC42BPG expression is restricted to heart and skeletal muscle tissues and is regulated by promoter DNA methylation and Sp1 binding 1. Recent evidence reveals an unexpected role as a negative regulator of selective autophagy, specifically inhibiting pexophagy (peroxisome autophagy) 2. Clinically, CDC42BPG variants have been identified as a novel susceptibility locus for hyperuricemia in genome-wide association studies of Asian populations 34, with genetic variants in CDC42BPG associated with elevated serum uric acid levels and kidney disease-related traits 4. Additionally, CDC42BPG was identified as a differentially expressed gene in phenylalanine-treated neuronal models, implicating it in neurite impairment and synaptic dysfunction relevant to phenylketonuria pathophysiology 5. CDC42BPG variants of uncertain significance have also been detected during whole-exome sequencing diagnostic studies in pediatric patients with suspected genetic diseases 6.

Sources cited
1
CDC42BPG (MRCKgamma) is a serine/threonine kinase restricted to heart and skeletal muscle with expression regulated by promoter DNA methylation and Sp1 binding
PMID: 15194684
2
CDC42BPG functions as an inhibitor of pexophagy (selective autophagy of peroxisomes)
PMID: 40838896
3
CDC42BPG variant rs55975541 is significantly associated with serum uric acid concentration, identifying CDC42BPG as a susceptibility locus for hyperuricemia
PMID: 29124443
4
CDC42BPG genetic variants are associated with uric acid levels in genome-wide association analysis of kidney disease-related traits
PMID: 29558500
5
CDC42BPG is differentially expressed in phenylalanine-treated neurons, associated with neurite impairment and synaptic connectivity dysfunction in phenylketonuria models
PMID: 39337507
6
CDC42BPG variants of uncertain significance were detected during whole-exome sequencing studies in pediatric patients with suspected genetic diseases
PMID: 38041506
Disease Associationsⓘ20
acneOpen Targets
0.33Weak
neurodegenerative diseaseOpen Targets
0.26Weak
goutOpen Targets
0.10Weak
adolescent idiopathic scoliosisOpen Targets
0.03Suggestive
device complicationOpen Targets
0.03Suggestive
cholelithiasisOpen Targets
0.02Suggestive
hyperuricemiaOpen Targets
0.02Suggestive
faciodigitogenital syndromeOpen Targets
0.01Suggestive
metastatic melanomaOpen Targets
0.01Suggestive
osteosarcomaOpen Targets
0.01Suggestive
Melnick-Needles syndromeOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
Peri-ImplantitisOpen Targets
0.00Suggestive
periodontitisOpen Targets
0.00Suggestive
phenylketonuriaOpen Targets
0.00Suggestive
autism spectrum disorderOpen Targets
0.00Suggestive
idiopathic membranous glomerulonephritisOpen Targets
0.00Suggestive
Intellectual disabilityOpen Targets
0.00Suggestive
autismOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CDC42BPAShared pathway60%CDC42BPBShared pathway50%TESK2Shared pathway40%TBCKShared pathway33%SMTNL2Shared pathway33%FRMD3Shared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
67%
Ovary
28%
Brain
24%
Liver
12%
Heart
3%
Gene Interaction Network
Click a node to explore
CDC42BPGCDC42BPACDC42BPBTESK2TBCKSMTNL2FRMD3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6DT37
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.04LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.91 [0.79–1.04]
RankingsWhere CDC42BPG stands among ~20K protein-coding genes
  • #12,116of 20,598
    Most Researched29
  • #10,351of 17,882
    Most Constrained (LOEUF)1.04
Genes detectedCDC42BPG
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Genome-wide association analysis identifies multiple loci associated with kidney disease-related traits in Korean populations.
PMID: 29558500
PLoS One · 2018
1.00
2
Identification of organelle-specific autophagy regulators from tandem CRISPR screens.
PMID: 40838896
J Cell Biol · 2025
0.83
3
Transcriptome Profiling of Phenylalanine-Treated Human Neuronal Model: Spotlight on Neurite Impairment and Synaptic Connectivity.
PMID: 39337507
Int J Mol Sci · 2024
0.67
4
Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.
PMID: 29124443
Mol Genet Genomics · 2018
0.50
5
Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.
PMID: 38041506
Mol Genet Genomic Med · 2024
0.33