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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
STAG2
STAG2 cohesin complex component
Chromosome X Β· Xq25
NCBI Gene: 10735Ensembl: ENSG00000101972.21HGNC: HGNC:11355UniProt: Q8N3U4
186PubMed Papers
22Diseases
0Drugs
47Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleolusmembranesister chromatid cohesioncohesin complexMullegama-Klein-Martinez syndromealobar holoprosencephalyneurodegenerative diseaseEwing sarcoma
✦AI Summary

STAG2 is a critical component of the cohesin complex that plays essential roles in sister chrX cohesion and transcriptional regulation 1. Beyond its canonical function in chromosome X, STAG2 exhibits unique roles distinct from its paralog STAG1 in regulating chrX accessibility and gene expression 1. In hematopoietic stem and progenitor cells, STAG2 loss decreases chrX accessibility and transcription of lineage-specification genes, leading to increased self-renewal and impaired differentiation, particularly affecting B cell commitment 1. STAG2 functions as a key regulator of spatial chrX architecture by maintaining enhancer-promoter looping interactions 2. STAG2 mutations are frequently observed in various cancers, including acute myeloid leukemia, bladder cancer, and Ewing sarcoma 345. In acute myeloid leukemia, STAG2 mutations reshape cohesin-structured chrX architecture, disrupting spatial chrX looping and altering gene regulation patterns that cannot be compensated by remaining STAG1-cohesin 2. Particularly in childhood gamma delta T-ALL, LMO2/STAG2 rearrangements identify an extremely high-risk subgroup, where STAG2 inactivation perturbs chrX organization and creates vulnerability to DNA repair pathway inhibition 6.

Sources cited
1
STAG2 has distinct roles from STAG1 in chromatin accessibility and transcriptional regulation, particularly in hematopoietic stem cell self-renewal and differentiation
PMID: 31495782
2
STAG2 mutations reshape chromatin architecture and disrupt spatial chromatin looping in acute myeloid leukemia
PMID: 39084219
3
STAG2 is commonly mutated in bladder cancer
PMID: 37884563
4
STAG2 mutations occur in Ewing sarcoma
PMID: 29977059
5
Acquired STAG2 mutations occur in GATA2 deficiency-associated myeloid malignancies
PMID: 36455197
6
LMO2/STAG2 rearrangements identify extremely high-risk childhood gamma delta T-ALL with altered chromatin organization and DNA repair vulnerabilities
PMID: 38916500
Disease Associationsβ“˜22
Mullegama-Klein-Martinez syndromeOpen Targets
0.78Strong
alobar holoprosencephalyOpen Targets
0.73Strong
neurodegenerative diseaseOpen Targets
0.54Moderate
Ewing sarcomaOpen Targets
0.52Moderate
urinary bladder cancerOpen Targets
0.52Moderate
genetic disorderOpen Targets
0.45Moderate
acute myeloid leukemiaOpen Targets
0.41Moderate
urinary bladder carcinomaOpen Targets
0.39Weak
myelodysplastic syndromeOpen Targets
0.39Weak
glioblastoma multiformeOpen Targets
0.38Weak
microcephalyOpen Targets
0.37Weak
Global developmental delayOpen Targets
0.37Weak
Intellectual disabilityOpen Targets
0.37Weak
bladder transitional cell carcinomaOpen Targets
0.37Weak
bile duct carcinomaOpen Targets
0.37Weak
breast ductal adenocarcinomaOpen Targets
0.37Weak
Growth delayOpen Targets
0.37Weak
hemangioblastomaOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
semilobar holoprosencephalyOpen Targets
0.37Weak
Holoprosencephaly 13, X-linkedUniProt
Mullegama-Klein-Martinez syndromeUniProt
Pathogenic Variants47
NM_001042750.2(STAG2):c.1196+4_1196+7delPathogenic
not provided|See cases
β˜…β˜…β˜†β˜†2025
NM_001042750.2(STAG2):c.3034C>T (p.Arg1012Ter)Pathogenic
Holoprosencephaly 13, X-linked|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 1012
NM_001042750.2(STAG2):c.3097C>T (p.Arg1033Ter)Pathogenic
not provided|Mullegama-Klein-Martinez syndrome
β˜…β˜…β˜†β˜†2021β†’ Residue 1033
NM_001042750.2(STAG2):c.2096+2T>APathogenic
Holoprosencephaly 13, X-linked
β˜…β˜†β˜†β˜†2026
NM_001042750.2(STAG2):c.445A>G (p.Thr149Ala)Likely pathogenic
Mullegama-Klein-Martinez syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 149
NM_001042750.2(STAG2):c.2353G>T (p.Glu785Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 785
NM_001042750.2(STAG2):c.483del (p.Thr162fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 162
NM_001042750.2(STAG2):c.3332dup (p.His1111fs)Pathogenic
Holoprosencephaly 13, X-linked
β˜…β˜†β˜†β˜†2025β†’ Residue 1111
NM_001042750.2(STAG2):c.106A>C (p.Lys36Gln)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 36
NM_001042750.2(STAG2):c.2184+2T>GLikely pathogenic
X-linked STAG2-related disorders
β˜…β˜†β˜†β˜†2025
NM_001042750.2(STAG2):c.3053+2T>CPathogenic
Thyroid cancer, nonmedullary, 1|Holoprosencephaly 13, X-linked
β˜…β˜†β˜†β˜†2025
NM_001042750.2(STAG2):c.2533+1G>APathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001042750.2(STAG2):c.2949del (p.Glu984fs)Pathogenic
Mullegama-Klein-Martinez syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 984
NM_001042750.2(STAG2):c.3724C>T (p.Arg1242Ter)Pathogenic
not provided|Neoplasm
β˜…β˜†β˜†β˜†2024β†’ Residue 1242
NM_001042750.2(STAG2):c.1788_1789insGG (p.Leu597fs)Pathogenic
Mullegama-Klein-Martinez syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 597
NM_001042750.2(STAG2):c.475T>C (p.Tyr159His)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 159
NM_001042750.2(STAG2):c.1018-1G>APathogenic
STAG2-related disorder
β˜…β˜†β˜†β˜†2024
NM_001042750.2(STAG2):c.3133C>T (p.Arg1045Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 1045
NM_001042750.2(STAG2):c.2300del (p.Val767fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 767
NM_001042750.2(STAG2):c.943T>C (p.Trp315Arg)Likely pathogenic
Neurodevelopmental disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 315
View on ClinVar β†—
Related Genes
PDS5AProtein interaction100%WAPLProtein interaction100%SMC1BProtein interaction100%PDS5BProtein interaction100%REC8Protein interaction99%ESPL1Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
66%
Heart
47%
Ovary
46%
Lung
43%
Liver
22%
Gene Interaction Network
Click a node to explore
STAG2PDS5AWAPLSMC1BPDS5BREC8ESPL1
PROTEIN STRUCTURE
Preparing viewer…
PDB6QNX Β· 2.70 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.20Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.13 [0.09–0.20]
RankingsWhere STAG2 stands among ~20K protein-coding genes
  • #2,318of 20,598
    Most Researched186 Β· top quartile
  • #1,385of 5,498
    Most Pathogenic Variants47
  • #463of 17,882
    Most Constrained (LOEUF)0.20 Β· top 5%
Genes detectedSTAG2
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Bladder cancer.
PMID: 37884563
Nat Rev Dis Primers Β· 2023
1.00
2
Ewing sarcoma.
PMID: 29977059
Nat Rev Dis Primers Β· 2018
0.90
3
The spectrum of GATA2 deficiency syndrome.
PMID: 36455197
Blood Β· 2023
0.80
4
STAG2 regulates interferon signaling in melanoma via enhancer loop reprogramming.
PMID: 35388001
Nat Commun Β· 2022
0.72
5
Mouse and human urothelial cancer organoids: A tool for bladder cancer research.
PMID: 30787188
Proc Natl Acad Sci U S A Β· 2019
0.70