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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GINS4
GINS complex subunit 4
Chromosome 8 · 8p11.21
NCBI Gene: 84296Ensembl: ENSG00000147536.12HGNC: HGNC:28226UniProt: Q9BRT9
63PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
DNA replicationnucleusprotein bindingGINS complexBenign Thyroid Gland Neoplasmtype 2 diabetes mellitusovarian dysfunctionneurodegenerative disease
✦AI Summary

GINS4 (GINS complex subunit 4) is a core component of the GINS complex, which is essential for initiating DNA replication and enabling progression of DNA replication forks 1. GINS4 functions as a critical subunit of the CMG (CDC45-MCM-GINS) helicase, the molecular machine that unwinds template DNA during replication and around which the replisome is assembled 2. Beyond canonical replication roles, GINS4 exhibits moonlighting functions in cancer biology. In hepatocellular carcinoma, GINS4 binds to POLE2 and promotes cell proliferation and cycle progression while suppressing ferroptosis via the PI3K/AKT pathway 3. Similarly, in gastric and lung cancers, elevated GINS4 expression correlates with poor prognosis and promotes tumorigenesis through activation of Rac1/CDC42 signaling and stabilization of oncogenic transcripts via interaction with LSH 45. In breast cancer, GINS4 is regulated by a circRNA-miRNA axis and promotes progression 6. Clinically, biallelic GINS4 loss-of-function mutations cause natural killer cell deficiency with neutropenia, with disease severity modulated by allelic expression bias in lineage-committed cells, highlighting GINS4's particular importance in hematopoietic development 78. Notably, GINS4 depletion can induce ferroptosis in cancer cells by destabilizing p53 through Snail-mediated acetylation antagonism 9.

Sources cited
1
GINS4 is required for correct functioning of the GINS complex, which plays an essential role in initiation and progression of DNA replication
PMID: 17417653
2
GINS complex is a core component of CMG helicase that unwinds template DNA during replication
PMID: 32453425
3
GINS4 knockdown suppresses HCC cell proliferation and cycle while promoting ferroptosis through POLE2/PI3K/AKT signaling
PMID: 40081544
4
GINS4 promotes gastric cancer growth, metastasis, and progression by activating Rac1/CDC42 pathways; high expression correlates with poor differentiation and lymph node metastasis
PMID: 31754397
5
GINS4 is highly expressed in lung cancer and promotes tumorigenesis; LSH stabilizes GINS4 mRNA through binding to its 3'UTR
PMID: 31253190
6
Circular RNA hsa_circ_0008673 promotes breast cancer progression by regulating the miR-578/GINS4 axis
PMID: 36628810
7
Biallelic partial loss-of-function mutations in GINS4 cause natural killer cell deficiency with neutropenia due to delayed cell cycle progression
PMID: 36345943
8
Allelic bias of inherited GINS4 variants in lineage-committed NK cells causes phenotypic variation in natural killer cell deficiency severity
PMID: 40768335
9
GINS4 suppresses ferroptosis in lung adenocarcinoma by antagonizing p53 acetylation through Snail-mediated destabilization
PMID: 37018198
10
GINS4 depletion prevents completion of DNA replication and allows cells to enter mitosis, leading to cell death
PMID: 39778868
Disease Associationsⓘ20
Benign Thyroid Gland NeoplasmOpen Targets
0.35Weak
type 2 diabetes mellitusOpen Targets
0.28Weak
ovarian dysfunctionOpen Targets
0.26Weak
neurodegenerative diseaseOpen Targets
0.16Weak
WheezingOpen Targets
0.16Weak
neoplasmOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
gliomaOpen Targets
0.08Suggestive
lung cancerOpen Targets
0.08Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
cancerOpen Targets
0.07Suggestive
urinary bladder carcinomaOpen Targets
0.07Suggestive
age-related macular degenerationOpen Targets
0.07Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.06Suggestive
X-linked retinal dysplasiaOpen Targets
0.06Suggestive
microphthalmiaOpen Targets
0.06Suggestive
retinitis pigmentosaOpen Targets
0.06Suggestive
Isolated anophthalmia - microphthalmiaOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
POLEProtein interaction100%RPA2Protein interaction100%TIMELESSProtein interaction100%RECQL4Protein interaction100%TOPBP1Protein interaction100%TIPINProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
75%
Ovary
17%
Lung
15%
Heart
13%
Liver
11%
Gene Interaction Network
Click a node to explore
GINS4POLERPA2TIMELESSRECQL4TOPBP1TIPIN
PROTEIN STRUCTURE
Preparing viewer…
PDB2E9X · 2.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.99LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.60 [0.38–0.99]
RankingsWhere GINS4 stands among ~20K protein-coding genes
  • #7,366of 20,598
    Most Researched63
  • #9,554of 17,882
    Most Constrained (LOEUF)0.99
Genes detectedGINS4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
GINS4 silencing mediates hepatocellular cancer cell proliferation, cycle and ferroptosis through POLE2.
PMID: 40081544
Cell Signal · 2025
1.00
2
Cell cycle progression of under-replicated cells.
PMID: 39778868
Nucleic Acids Res · 2025
0.90
3
Allelic bias contributes to heterogeneous phenotypes of NK cell deficiency.
PMID: 40768335
Cell Rep · 2025
0.80
4
The novel GINS4 axis promotes gastric cancer growth and progression by activating Rac1 and CDC42.
PMID: 31754397
Theranostics · 2019
0.70
5
PMID: 34556022
0.60