HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 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.
ZRSR2
zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2
Chromosome X Β· Xp22.2
NCBI Gene: 8233Ensembl: ENSG00000169249.14HGNC: HGNC:23019UniProt: A0A8I5KSD0
41PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
identical protein bindingspliceosomal complex assemblymRNA splicing, via spliceosomepre-mRNA 3'-splice site bindingneurodegenerative diseaseorofaciodigital syndrome 21myelodysplastic syndromeblastic plasmacytoid dendritic cell neoplasm
✦AI Summary

ZRSR2 is a zinc finger RNA-binding protein essential for pre-mRNA splicing of both U2- and U12-type introns. It selectively binds the 3'-splice site of pre-mRNAs and is required for spliceosomal complex assembly and U2 intron splicing completion 1. ZRSR2 functions as a tumor suppressor; mutations occur frequently in myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML), affecting approximately 45-85% of myeloid neoplasms 1. ZRSR2 mutations are highly specific diagnostic markers for secondary AML and occur early in leukemogenesis, often persisting in clonal remission 2. These mutations belong to a distinct genetic subtype associated with worse clinical outcomes, including lower complete remission rates and decreased event-free survival 2. ZRSR2 mutations promote abnormal RNA splicing, generating recurrent mis-spliced mRNA isoforms that serve as actionable neoantigens for immunotherapy 3. ZRSR2-mutant clones grow significantly faster than certain other clones and contribute to clonal hematopoiesis of indeterminate potential 4. Additionally, ZRSR2 deficiency impairs DNA damage repair pathway activation and exhibits synthetic lethality with EXO1 loss, presenting a therapeutic vulnerability in DDR-deficient cancers 5.

Sources cited
1
ZRSR2 mutations are frequent (45-85%) and highly specific to myelodysplasia; mutations affect 3'-splice site recognition and induce abnormal RNA splicing
PMID: 21909114
2
ZRSR2 mutations are >95% specific for secondary AML diagnosis, occur early in leukemogenesis, and are associated with worse clinical outcomes
PMID: 25550361
3
ZRSR2 mutations generate recurrent mis-spliced mRNA isoforms that serve as public neoantigens for neoantigen-reactive T cell recognition
PMID: 40273911
4
ZRSR2 CHIP clones grow significantly faster than certain other clones during aging-related clonal hematopoiesis
PMID: 39251642
5
ZRSR2 deficiency is synthetic lethal with EXO1 loss and exhibits impaired DNA damage repair pathway activation
PMID: 41006228
Disease Associationsβ“˜21
neurodegenerative diseaseOpen Targets
0.55Moderate
orofaciodigital syndrome 21Open Targets
0.51Moderate
myelodysplastic syndromeOpen Targets
0.39Weak
blastic plasmacytoid dendritic cell neoplasmOpen Targets
0.38Weak
chronic myelomonocytic leukemiaOpen Targets
0.37Weak
colorectal adenocarcinomaOpen Targets
0.37Weak
myelofibrosisOpen Targets
0.37Weak
acute myeloid leukemiaOpen Targets
0.32Weak
lysosomal storage diseaseOpen Targets
0.30Weak
diffuse large B-cell lymphomaOpen Targets
0.28Weak
chronic myelogenous leukemiaOpen Targets
0.28Weak
chronic lymphocytic leukemiaOpen Targets
0.28Weak
hepatocellular carcinomaOpen Targets
0.28Weak
essential thrombocythemiaOpen Targets
0.28Weak
myeloproliferative disorderOpen Targets
0.28Weak
non-small cell lung carcinomaOpen Targets
0.28Weak
colon adenocarcinomaOpen Targets
0.28Weak
Juvenile Myelomonocytic LeukemiaOpen Targets
0.28Weak
melanomaOpen Targets
0.28Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.28Weak
Orofaciodigital syndrome 21UniProt
Pathogenic Variants6
NM_005089.4(ZRSR2):c.883C>T (p.Arg295Ter)Likely pathogenic
ZRSR2-related disorder
β˜…β˜†β˜†β˜†2024β†’ Residue 295
NM_005089.4(ZRSR2):c.868C>T (p.Arg290Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 290
NM_005089.4(ZRSR2):c.224G>A (p.Trp75Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 75
NM_005089.4(ZRSR2):c.1120_1121dup (p.Ser375fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 375
NM_005089.4(ZRSR2):c.1207_1208del (p.Arg403fs)Likely pathogenic
Holoprosencephaly sequence;Heart, malformation of;Severe hydrocephalus;Median cleft lip and palate|Orofaciodigital syndrome 21
β˜…β˜†β˜†β˜†2019β†’ Residue 403
NM_005089.4(ZRSR2):c.1211_1212del (p.Gly404fs)Pathogenic
Orofaciodigital syndrome 21
β˜†β˜†β˜†β˜†2024β†’ Residue 404
View on ClinVar β†—
Related Genes
SF3A3Protein interaction100%SF1Protein interaction100%SNRNP35Protein interaction99%SRSF1Protein interaction97%RBM17Protein interaction96%U2AF1L4Protein interaction96%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
70%
Lung
70%
Heart
53%
Liver
40%
Brain
36%
Gene Interaction Network
Click a node to explore
ZRSR2SF3A3SF1SNRNP35SRSF1RBM17U2AF1L4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q15696
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.20Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.08 [0.03–0.20]
RankingsWhere ZRSR2 stands among ~20K protein-coding genes
  • #10,120of 20,598
    Most Researched41
  • #3,410of 5,498
    Most Pathogenic Variants6
  • #431of 17,882
    Most Constrained (LOEUF)0.20 Β· top 5%
Genes detectedZRSR2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Frequent pathway mutations of splicing machinery in myelodysplasia.
PMID: 21909114
Nature Β· 2011
1.00
2
Molecular impact of mutations in RNA splicing factors in cancer.
PMID: 39146933
Mol Cell Β· 2024
0.90
3
Mis-splicing-derived neoantigens and cognate TCRs in splicing factor mutant leukemias.
PMID: 40273911
Cell Β· 2025
0.80
4
Acute myeloid leukemia ontogeny is defined by distinct somatic mutations.
PMID: 25550361
Blood Β· 2015
0.70
5
Long-term longitudinal analysis of 4,187 participants reveals insights into determinants of clonal hematopoiesis.
PMID: 39251642
Nat Commun Β· 2024
0.60