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6 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GPATCH3
G-patch domain containing 3
Chromosome 1 · 1p36.11
NCBI Gene: 63906Ensembl: ENSG00000198746.14HGNC: HGNC:25720UniProt: Q96I76
11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolprotein bindingnegative regulation of type I interferon productionnegative regulation of RIG-I signaling pathwayneurodegenerative diseasecoronary atherosclerosisgoutneoplasm
✦AI Summary

GPATCH3 is a G-patch domain-containing protein with dual roles in developmental and immune regulation. Functionally, GPATCH3 acts as a transcriptional activator of the CXCR4 promoter, controlling neural crest cell migration essential for ocular and craniofacial development 1. Hypermorphic variants in GPATCH3 are associated with congenital glaucoma, with knockdown and overexpression studies in zebrafish demonstrating goniodysgenesis and ocular abnormalities 1. In innate immunity, GPATCH3 functions as a negative regulator of antiviral responses through distinct mechanisms. It directly interacts with mitochondrial VISA protein and disrupts assembly of the VISA/TRAF6/TBK1 signalosome, thereby inhibiting RIG-I-like receptor signaling and type I interferon production 2. Additionally, GPATCH3 regulates alternative splicing of immunoregulatory genes by enhancing the ATPase activity of RNA helicase DHX15, affecting splicing of genes including CXCR3, CD44, and FOXP3 3. Clinically, elevated GPATCH3 expression correlates with reduced infiltration of cytotoxic T cells and NK cells while enriching immunosuppressive populations, suggesting a role in tumor immune evasion 3. GPATCH3 has been implicated in hepatocellular carcinoma progression through gene fusion events 4, and preliminary associations with heart failure have been identified through machine learning analysis 5.

Sources cited
1
GPATCH3 activates CXCR4 promoter and is involved in ocular and craniofacial development; hypermorphic variants associated with congenital glaucoma
PMID: 28397860
2
GPATCH3 negatively regulates RLR-mediated antiviral responses by disrupting VISA/TRAF6/TBK1 signalosome assembly
PMID: 28414768
3
GPATCH3 enhances DHX15 ATPase activity to regulate alternative splicing of immune genes; elevated expression reduces cytotoxic T cell and NK cell infiltration
PMID: 40861452
4
GPATCH3 involved in hepatocellular carcinoma progression through fusion gene ARID1A-GPATCH3
PMID: 26271415
5
GPATCH3 identified as top gene associated with heart failure prediction through machine learning analysis
PMID: 33259306
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.27Weak
coronary atherosclerosisOpen Targets
0.11Weak
goutOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.04Suggestive
cancerOpen Targets
0.04Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.04Suggestive
microphthalmiaOpen Targets
0.03Suggestive
exudative vitreoretinopathy 2, X-linkedOpen Targets
0.03Suggestive
Isolated anophthalmia - microphthalmiaOpen Targets
0.03Suggestive
X-linked retinoschisisOpen Targets
0.03Suggestive
exudative vitreoretinopathyOpen Targets
0.03Suggestive
colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndromeOpen Targets
0.03Suggestive
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndromeOpen Targets
0.03Suggestive
hypertensionOpen Targets
0.03Suggestive
congenital glaucomaOpen Targets
0.02Suggestive
glaucomaOpen Targets
0.02Suggestive
Disorder of lipid metabolismOpen Targets
0.02Suggestive
type 2 diabetes mellitusOpen Targets
0.02Suggestive
viral diseaseOpen Targets
0.02Suggestive
prostate adenocarcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ZNF408Protein interaction100%RNF125Shared pathway50%NLRX1Shared pathway33%TASOR2Shared pathway33%SEC14L1Shared pathway25%XAF1Shared pathway25%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
51%
Lung
46%
Brain
41%
Ovary
38%
Heart
36%
Gene Interaction Network
Click a node to explore
GPATCH3ZNF408RNF125NLRX1TASOR2SEC14L1XAF1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96I76
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.01LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.79 [0.62–1.01]
RankingsWhere GPATCH3 stands among ~20K protein-coding genes
  • #16,771of 20,598
    Most Researched11
  • #9,819of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedGPATCH3
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development.
PMID: 28397860
Sci Rep · 2017
1.00
2
Grass carp (Ctenopharyngodon idella) GPATCH3 initiates IFN 1 expression via the activation of STING-IRF7 signal axis.
PMID: 32645337
Dev Comp Immunol · 2020
0.83
3
An Enhanced Random Forests Approach to Predict Heart Failure From Small Imbalanced Gene Expression Data.
PMID: 33259306
IEEE/ACM Trans Comput Biol Bioinform · 2021
0.67
4
GPATCH3 negatively regulates RLR-mediated innate antiviral responses by disrupting the assembly of VISA signalosome.
PMID: 28414768
PLoS Pathog · 2017
0.50
5
GPATCH3, a splicing regulator that facilitates tumor immune evasion via the modulation of ATPase activity of DHX15.
PMID: 40861452
Front Immunol · 2025
0.33