SGO2

Chr 2ADAR

shugoshin 2

Also known as: SGOL2, TRIPIN

NCBI Gene: 151246ENSG00000163535UniProt: Q562F6

Predicted to be involved in meiotic sister chromatid cohesion. Predicted to act upstream of or within several processes, including meiotic nuclear division; meiotic sister chromatid cohesion; and positive regulation of maintenance of meiotic sister chromatid cohesion, centromeric. Located in chromosome, centromeric region and nuclear body. Part of mitotic cohesin complex. [provided by Alliance of Genome Resources, Jul 2025]

Primary Disease Associations & Inheritance

Houge-Janssens syndrome 3MIM #618354
AD
Chronic atrial and intestinal dysrhythmiaMIM #616201
AR
51
ClinVar variants
35
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— SGO2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
35 Pathogenic / Likely Pathogenic· 9 VUS of 51 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.65LOEUF
pLI 0.000
Z-score 3.35
OE 0.44 (0.30–0.65)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.56Z-score
OE missense 0.94 (0.87–1.00)
572 obs / 611.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.44 (0.30–0.65)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.94 (0.87–1.00)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.88
0≤1.21.6
LoF obs/exp: 18 / 41.3Missense obs/exp: 572 / 611.2Syn Z: 1.43

ClinVar Variant Classifications

51 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic34
Likely Pathogenic1
VUS9
Likely Benign4
Benign3
34
Pathogenic
1
Likely Pathogenic
9
VUS
4
Likely Benign
3
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
2
0
32
0
34
Likely Pathogenic
0
0
1
0
1
VUS
0
7
2
0
9
Likely Benign
0
4
0
0
4
Benign
0
2
0
1
3
Total21335151

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SGO2 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

3 OMIM entries

OMIM
SHUGOSHIN-LIKE 2; SGOL2
MIM #612425 · *

Houge-Janssens syndrome 3

MIM #618354

Molecular basis of disorder known

Autosomal dominant
SHUGOSHIN-LIKE 1; SGOL1
MIM #609168 · *

Chronic atrial and intestinal dysrhythmia

MIM #616201

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
SGO2 as a Prognostic Biomarker Correlated with Cell Proliferation, Migration, Invasion, and Epithelial-Mesenchymal Transition in Lung Adenocarcinoma.
Chen Y et al.·Front Biosci (Landmark Ed)
2024
A comprehensive review and in silico analysis of the role of survivin (BIRC5) in hepatocellular carcinoma hallmarks: A step toward precision.
Mohamed NM et al.·Int J Biol Macromol
2025Review
Shugosin 2 is a biomarker for pathological grading and survival prediction in patients with gliomas.
Kao Y et al.·Sci Rep
2021Cohort
Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.
Faridi R et al.·Clin Genet
2017
High SGO2 Expression Predicts Poor Overall Survival: A Potential Therapeutic Target for Hepatocellular Carcinoma.
Deng M et al.·Genes (Basel)
2021
Comprehensive Analysis of the Control of Cancer Stem Cell Characteristics in Endometrial Cancer by Network Analysis.
Liu Y et al.·Comput Math Methods Med
2021
Subcutaneous tissue oxygen pressure: a reliable index of peripheral perfusion in humans after injury.
Drucker W et al.·J Trauma
1996
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools