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0 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CIRSR
corepressor of RBPJ and splicing regulator
Chromosome 2 Β· 2q31.1
NCBI Gene: 9541Ensembl: ENSG00000138433.17HGNC: HGNC:24217UniProt: Q86X95
44PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
negative regulation of transcription by RNA polymerase IInegative regulation of DNA-templated transcriptioncentrosometranscription corepressor activitymajor depressive disorderdiabetes mellitustype 2 diabetes mellitusvertebral column disorder
✦AI Summary

AI summary not yet available. Showing NCBI Gene summary.

corepressor of RBPJ and splicing regulator

⚠Limited data available β€” This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
major depressive disorderOpen Targets
0.38Weak
diabetes mellitusOpen Targets
0.36Weak
type 2 diabetes mellitusOpen Targets
0.29Weak
vertebral column disorderOpen Targets
0.27Weak
adolescent idiopathic scoliosisOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
osteosarcomaOpen Targets
0.07Suggestive
urinary bladder carcinomaOpen Targets
0.07Suggestive
infectionOpen Targets
0.06Suggestive
Abnormality of the skeletal systemOpen Targets
0.06Suggestive
HematemesisOpen Targets
0.06Suggestive
Pancreatic hypoplasia - diabetes - congenital heart diseaseOpen Targets
0.04Suggestive
pancreatic hypoplasia-diabetes-congenital heart disease syndromeOpen Targets
0.04Suggestive
isolated Klippel-Feil syndromeOpen Targets
0.04Suggestive
Klippel-Feil syndromeOpen Targets
0.04Suggestive
prune belly syndromeOpen Targets
0.04Suggestive
spondylocostal dysostosis 4, autosomal recessiveOpen Targets
0.04Suggestive
Heart defects - limb shorteningOpen Targets
0.03Suggestive
heart defects-limb shortening syndromeOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
HNRNPA1L3Shared pathway100%RBMXL1Shared pathway100%RBMY1EShared pathway100%RBMY1DShared pathway100%RBM44Shared pathway100%HNRNPA3Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
68%
Heart
56%
Ovary
50%
Lung
49%
Liver
35%
Gene Interaction Network
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CIRSRHNRNPA1L3RBMXL1RBMY1ERBMY1DRBM44HNRNPA3
PROTEIN STRUCTURE
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PDB6ZYM Β· 3.40 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.97LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.60 [0.38–0.97]
RankingsWhere CIRSR stands among ~20K protein-coding genes
  • #9,569of 20,598
    Most Researched44
  • #9,219of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedCIRSR
Sources retrieved0 papers
Response timeβ€”