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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CHN2
chimerin 2
Chromosome 7 · 7p14.3
NCBI Gene: 1124Ensembl: ENSG00000106069.26HGNC: HGNC:1944UniProt: A0A2X0TVW3
58PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GTPase activator activityprotein bindingsynapseacrosome assemblyneurodegenerative diseasebreast diseasealcohol drinkingandrogenetic alopecia
✦AI Summary

CHN2 encodes β-chimaerin proteins (β1, β2, and β3 isoforms), which function as GTPase-activating proteins (GAPs) specifically targeting Rac 1. These proteins contain characteristic SH2, C1, and Rac-GAP domains and are responsive to diacylglycerol and phorbol esters 1. CHN2 plays important roles in insulin signaling, as demonstrated by a case where CHN2 haploinsufficiency combined with INSR disruption resulted in severe insulin resistance and growth deficiency, with CHN2 being expressed in insulin-sensitive tissues 2. The gene also contributes to disease susceptibility, with genetic variants associated with diabetic retinopathy in Chinese type 2 diabetic patients 3 and smoking behavior 4. CHN2 expression is regulated by environmental factors, as prenatal phthalate exposure affects DNA methylation patterns near CHN2 5. Additionally, CHN2 expression is altered in systemic lupus erythematosus, being downregulated in neutrophils from adult SLE patients 6. The multiple CHN2 isoforms arise from alternative transcription start sites rather than splicing, with β3-chimaerin showing enhanced phorbol ester responsiveness compared to β2-chimaerin 1.

Sources cited
1
CHN2 encodes β-chimaerin proteins that function as Rac-specific GAPs and are responsive to phorbol esters
PMID: 24430297
2
CHN2 haploinsufficiency contributes to insulin resistance and growth deficiency, with expression in insulin-sensitive tissues
PMID: 19720790
3
CHN2 genetic variants are associated with diabetic retinopathy in Chinese type 2 diabetic patients
PMID: 21911749
4
CHN2 polymorphisms are associated with smoking behavior
PMID: 23941981
5
Prenatal phthalate exposure affects DNA methylation patterns near CHN2
PMID: 37120575
6
CHN2 expression is downregulated in neutrophils from adult SLE patients
PMID: 38347676
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.50Moderate
breast diseaseOpen Targets
0.31Weak
alcohol drinkingOpen Targets
0.30Weak
androgenetic alopeciaOpen Targets
0.29Weak
preeclampsiaOpen Targets
0.28Weak
acquired thrombocytopeniaOpen Targets
0.28Weak
atopic eczemaOpen Targets
0.27Weak
secondary malignant neoplasmOpen Targets
0.26Weak
subarachnoid hemorrhageOpen Targets
0.25Weak
esophageal cancerOpen Targets
0.24Weak
food allergyOpen Targets
0.22Weak
ShockOpen Targets
0.21Weak
inborn disorder of amino acid metabolismOpen Targets
0.20Weak
tooth diseaseOpen Targets
0.19Weak
Alzheimer diseaseOpen Targets
0.19Weak
benign chondrogenic neoplasmOpen Targets
0.18Weak
adolescent idiopathic scoliosisOpen Targets
0.14Weak
schizophreniaOpen Targets
0.14Weak
Dejerine-Sottas syndromeOpen Targets
0.12Weak
neuropathyOpen Targets
0.12Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RAC1Protein interaction84%CPVLProtein interaction70%IZUMO3Shared pathway50%GARIN1AShared pathway50%ARHGAP19Shared pathway50%GARNL3Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Liver
81%
Ovary
39%
Lung
13%
Bone Marrow
3%
Heart
1%
Gene Interaction Network
Click a node to explore
CHN2RAC1CPVLIZUMO3GARIN1AARHGAP19GARNL3
PROTEIN STRUCTURE
Preparing viewer…
PDB1XA6 · 3.20 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.89LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.64 [0.47–0.89]
RankingsWhere CHN2 stands among ~20K protein-coding genes
  • #7,845of 20,598
    Most Researched58
  • #7,898of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedCHN2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Discovery of SARS-CoV-2 antiviral drugs through large-scale compound repurposing.
PMID: 32707573
Nature · 2020
1.00
2
CPVL/CHN2 genetic variant is associated with diabetic retinopathy in Chinese type 2 diabetic patients.
PMID: 21911749
Diabetes · 2011
0.90
3
Prenatal phthalate exposure and cord blood DNA methylation.
PMID: 37120575
Sci Rep · 2023
0.80
4
Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.
PMID: 19720790
Diabetes · 2009
0.70
5
Association of a novel polymorphism of the β2-chimaerin gene (CHN2) with smoking.
PMID: 23941981
J Investig Med · 2013
0.60