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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RFPL2
ret finger protein like 2
Chromosome 22 Β· 22q12.3
NCBI Gene: 10739Ensembl: ENSG00000128253.16HGNC: HGNC:9979UniProt: O75678
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ubiquitin protein ligase activityregulation of gene expressioninnate immune responsecytoplasmbrain aneurysmglioblastoma multiformeglaucomaprimitive neuroectodermal tumor
✦AI Summary

Based on limited published evidence, RFPL2 is a RING-B30 family protein located in the cytoplasm with ubiquitin protein ligase activity. The protein contains RING finger, coiled-coil, and B30.2 domains mediating protein-protein interactions 1. RFPL2 is part of a human gene cluster (RFPL1,2,3) on chromosome 22 showing high expression during human neocortex development and neurogenesis in embryonic stem cells, suggesting a role in neocortex development 2. The gene participates in innate immune response and gene expression regulation, though specific molecular mechanisms remain unclear.

Sources cited
1
RFPL2 encodes a protein with tripartite RING finger, coiled-coil, and B30.2 domain structure characteristic of RING-B30 family proteins
PMID: 10508838
2
RFPL2 is part of human RFPL1,2,3 cluster showing high expression during neurogenesis and neocortex development, transactivated by Pax6
PMID: 18656177
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
brain aneurysmOpen Targets
0.13Weak
glioblastoma multiformeOpen Targets
0.02Suggestive
glaucomaOpen Targets
0.02Suggestive
primitive neuroectodermal tumorOpen Targets
0.00Suggestive
ataxia telangiectasiaOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
schizophreniaOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
non-small cell lung carcinomaOpen Targets
0.00Suggestive
Werner syndromeOpen Targets
0.00Suggestive
cholangiocarcinomaOpen Targets
0.00Suggestive
clear cell renal carcinomaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
RFPL4AL1Shared pathway100%TRIM43BShared pathway100%TRIM64CShared pathway100%TRIM49CShared pathway100%TRIM64BShared pathway100%RFPL4BShared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
64%
Liver
6%
Lung
0%
Ovary
0%
Heart
0%
Gene Interaction Network
Click a node to explore
RFPL2RFPL4AL1TRIM43BTRIM64CTRIM49CTRIM64BRFPL4B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O75678
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.19LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.75 [0.49–1.19]
RankingsWhere RFPL2 stands among ~20K protein-coding genes
  • #16,551of 20,598
    Most Researched12
  • #12,484of 17,882
    Most Constrained (LOEUF)1.19
Genes detectedRFPL2
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Duplications on human chromosome 22 reveal a novel Ret Finger Protein-like gene family with sense and endogenous antisense transcripts.
PMID: 10508838
Genome Res Β· 1999
1.00
2
Evolutionary forces shape the human RFPL1,2,3 genes toward a role in neocortex development.
PMID: 18656177
Am J Hum Genet Β· 2008
0.50