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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.
PABPC4L
poly(A) binding protein cytoplasmic 4 like
Chromosome 4 Β· 4q28.3
NCBI Gene: 132430Ensembl: ENSG00000254535.5HGNC: HGNC:31955UniProt: P0CB38
17PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleuscytosolcytoplasmic stress granuleribonucleoprotein complexdiabetic ketoacidosisankylosing spondylitisovarian dysfunctionacquired thrombocytopenia
✦AI Summary

Based on limited published evidence, PABPC4L is a cytoplasmic poly(A) binding protein that may bind RNA, particularly mRNA 3'-UTR and poly(U) sequences. It localizes to the nucleus and cytoplasm, and associates with cytoplasmic stress granules and ribonucleoprotein complexes. A stop-gain variant (p.R271X) in PABPC4L was identified in familial atypical parkinsonism, causing cellular mislocalization and impaired stress granule association 1. Additionally, rare deletions spanning PABPC4L showed modest enrichment in treatment-resistant depression 2, though these associations did not survive genome-wide correction.

Sources cited
1
PABPC4L stop-gain variant causes cellular mislocalization and impaired stress granule association in familial atypical parkinsonism
PMID: 31537871
2
Rare deletions spanning PABPC4L show modest enrichment in treatment-resistant depression cases
PMID: 24529801
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
diabetic ketoacidosisOpen Targets
0.33Weak
ankylosing spondylitisOpen Targets
0.24Weak
ovarian dysfunctionOpen Targets
0.22Weak
acquired thrombocytopeniaOpen Targets
0.21Weak
smoking initiationOpen Targets
0.20Weak
Abruptio PlacentaeOpen Targets
0.20Weak
splenic diseaseOpen Targets
0.20Weak
placental retentionOpen Targets
0.19Weak
ovarian neoplasmOpen Targets
0.19Weak
placenta praeviaOpen Targets
0.17Weak
pituitary gland diseaseOpen Targets
0.17Weak
shortness of breathOpen Targets
0.17Weak
atrophic gastritisOpen Targets
0.16Weak
HypoventilationOpen Targets
0.16Weak
trigeminal nerve diseaseOpen Targets
0.15Weak
atypical teratoid rhabdoid tumorOpen Targets
0.03Suggestive
clear cell renal carcinomaOpen Targets
0.02Suggestive
ataxia telangiectasiaOpen Targets
0.02Suggestive
ependymomaOpen Targets
0.02Suggestive
medulloblastomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
EIF4A2Protein interaction99%PABPN1Protein interaction92%EIF4G1Protein interaction80%PAIP1Protein interaction79%EIF4EProtein interaction79%PAN2Protein interaction73%
Tissue Expression6 tissues
Heart
100%
Ovary
35%
Lung
8%
Liver
2%
Brain
2%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
PABPC4LEIF4A2PABPN1EIF4G1PAIP1EIF4EPAN2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P0CB38
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.94LoF Tolerant
pLIβ“˜
0.05Tolerant
Observed/Expected LoF2.20 [0.54–1.94]
RankingsWhere PABPC4L stands among ~20K protein-coding genes
  • #15,083of 20,598
    Most Researched17
  • #17,611of 17,882
    Most Constrained (LOEUF)1.94
Genes detectedPABPC4L
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Rare copy number variation in treatment-resistant major depressive disorder.
PMID: 24529801
Biol Psychiatry Β· 2014
1.00
2
Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism.
PMID: 31537871
Sci Rep Β· 2019
0.50