GINS3

Chr 16q21

GINS complex subunit 3

Aliases:: FLJ13912, PSF3
MANE:: ENST00000318129.6

OMIM: 610610 ↗NCBI: 64785 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

GINS3 · Q9BRX5

v62025-08-01

Predicted Aligned Error matrix for GINS3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

87.4/ 100

Confident

216 residues

Confidence breakdown

Very high(≥ 90)66%
Confident(70–90)22%
Low(50–70)11%
Very low(< 50)1%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal
Monogenic short stature
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Meier-Gorlin syndrome
0.46
trauma complication
0.11
cancer
0.08
colorectal cancer
0.06
neoplasm
0.05
squamous cell carcinoma
0.05
non-small cell lung carcinoma
0.04
adenocarcinoma
0.04
skull disorder
0.03
lung carcinoma
0.03

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

DNA replication complex GINS protein PSF3

Required for correct functioning of the GINS complex, a complex that plays an essential role in the initiation of DNA replication, and progression of DNA replication forks (PubMed:17417653, PubMed:28414293, PubMed:35603789). GINS complex is a core component of CDC45-MCM-GINS (CMG) helicase, the molecular machine that unwinds template DNA during replication, and around which the replisome is built (PubMed:32453425, PubMed:34694004, PubMed:34700328, PubMed:35585232)