GINS2

Chr 16

GINS complex subunit 2

Also known as: HSPC037, PSF2, Pfs2

NCBI Gene: 51659ENSG00000131153UniProt: Q9Y248OMIM: 610609

The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1 (GINS1; MIM 610608), Psf2, and Psf3 (GINS3; MIM 610610). The formation of this complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional information about the GINS complex.[supplied by OMIM, Mar 2008]

OMIMResearchGenerating clinical summary…
LOEUF 1.81
Clinical Summary— GINS2
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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.81LOEUF
pLI 0.000
Z-score -0.52
OE 1.18 (0.74–1.81)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.32Z-score
OE missense 1.37 (1.19–1.58)
138 obs / 100.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.18 (0.74–1.81)
0≤0.351.4
Missense OE?1.37 (1.19–1.58)
0≤0.61.4
Synonymous OE?1.68
0≤1.21.6
LoF obs/exp: 11 / 9.3Missense obs/exp: 138 / 100.7Syn Z: -3.26

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GINS2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients