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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HNRNPDL
heterogeneous nuclear ribonucleoprotein D like
Chromosome 4 · 4q21.22
NCBI Gene: 9987Ensembl: ENSG00000152795.18HGNC: HGNC:5037UniProt: A0A087WUK2
223PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingprotein bindingnucleoplasmregulation of gene expressionautosomal dominant limb-girdle muscular dystrophy type 1Glimb-girdle muscular dystrophyAutosomal dominant limb-girdle muscular dystrophymuscular dystrophy, limb-girdle, autosomal dominant
✦AI Summary

HNRNPDL (heterogeneous nuclear ribonucleoprotein D like) is a multifunctional RNA-binding protein that regulates both transcription and RNA processing. The protein extensively controls gene expression and alternative splicing of hundreds of genes involved in transcription regulation and critical signaling pathways including NOD-like receptor, Notch, and TNF signaling 1. HNRNPDL functions as a transcriptional regulator and binds to AU-rich elements in mRNAs, influencing post-transcriptional control. Mechanistically, HNRNPDL can form functional amyloid fibrils through its Gly/Tyr-rich domain, with RNA-binding domains arranged as a solenoidal coat around the amyloid core, allowing continued nucleic acid binding 2. The protein undergoes ubiquitin-mediated degradation regulated by TRIM4, which affects cellular sensitivity to CDK4/6 inhibitors in cancer 3. Disease relevance centers on limb-girdle muscular dystrophy D3 (LGMD D3), caused by mutations at codon 378, particularly c.1132G>A and c.1132G>C variants 4. Clinically, HNRNPDL-related LGMD D3 presents with variable phenotypes from proximal limb-girdle weakness to distal involvement, characterized by scapular winging and distinctive muscle MRI patterns showing adductor magnus involvement while sparing rectus femoris 4. The disease involves autophagic mechanisms with rimmed vacuoles in muscle biopsies.

Sources cited
1
HNRNPDL extensively regulates transcription and alternative splicing of genes involved in NOD-like receptor, Notch, and TNF signaling pathways
PMID: 30447347
2
HNRNPDL forms functional amyloid fibrils with RNA-binding domains arranged as a solenoidal coat around an amyloid core
PMID: 36646699
3
TRIM4 modulates ubiquitin-mediated degradation of HNRNPDL affecting CDK4/6 inhibitor sensitivity
PMID: 39643799
4
Mutations at codon 378 cause LGMD D3 with variable phenotypes including scapular winging and distinctive muscle MRI patterns
PMID: 31267206
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
autosomal dominant limb-girdle muscular dystrophy type 1GOpen Targets
0.68Moderate
limb-girdle muscular dystrophyOpen Targets
0.37Weak
Autosomal dominant limb-girdle muscular dystrophyOpen Targets
0.37Weak
muscular dystrophy, limb-girdle, autosomal dominantOpen Targets
0.37Weak
cervical carcinomaOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
Neurodevelopmental delayOpen Targets
0.08Suggestive
rheumatoid arthritisOpen Targets
0.08Suggestive
immunodeficiency 88Open Targets
0.06Suggestive
eosinophil peroxidase deficiencyOpen Targets
0.06Suggestive
linear and whorled nevoid hypermelanosisOpen Targets
0.06Suggestive
melanomaOpen Targets
0.06Suggestive
chronic myeloproliferative disorderOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
infectionOpen Targets
0.05Suggestive
chronic myelogenous leukemiaOpen Targets
0.05Suggestive
placenta praeviaOpen Targets
0.04Suggestive
Pick diseaseOpen Targets
0.04Suggestive
neutropenia, severe congenital, 2, autosomal dominantOpen Targets
0.04Suggestive
nephritisOpen Targets
0.04Suggestive
Muscular dystrophy, limb-girdle, autosomal dominant 3UniProt
Pathogenic Variants3
NM_031372.4(HNRNPDL):c.1132G>A (p.Asp378Asn)Pathogenic
Autosomal dominant limb-girdle muscular dystrophy type 1G
★★☆☆2026→ Residue 378
NM_031372.4(HNRNPDL):c.1132G>C (p.Asp378His)Pathogenic
Autosomal dominant limb-girdle muscular dystrophy type 1G|not provided|HNRNPDL-related myopathy with protein aggregates and rimmed vacuoles
★★☆☆2025→ Residue 378
NM_031372.4(HNRNPDL):c.115_116delinsTT (p.Ala39Phe)Likely pathogenic
not provided
★☆☆☆2021→ Residue 39
View on ClinVar ↗
Related Genes
LOC728743Shared pathway100%ATXN7L3BShared pathway100%CAVIN4Shared pathway100%UNCXShared pathway100%DPPA5Shared pathway100%NKAPLShared pathway100%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
100%
Brain
66%
Lung
66%
Liver
49%
Heart
44%
Gene Interaction Network
Click a node to explore
HNRNPDLLOC728743ATXN7L3BCAVIN4UNCXDPPA5NKAPL
PROTEIN STRUCTURE
Preparing viewer…
PDB7ZIR · 2.50 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.57Moderately Constrained
pLIⓘ
0.69Intermediate
Observed/Expected LoF0.38 [0.26–0.57]
RankingsWhere HNRNPDL stands among ~20K protein-coding genes
  • #1,830of 20,598
    Most Researched223 · top 10%
  • #3,927of 5,498
    Most Pathogenic Variants3
  • #3,803of 17,882
    Most Constrained (LOEUF)0.57 · top quartile
Genes detectedHNRNPDL
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis · 2022
1.00
2
Cryo-EM structure of hnRNPDL-2 fibrils, a functional amyloid associated with limb-girdle muscular dystrophy D3.
PMID: 36646699
Nat Commun · 2023
0.90
3
ATXN2L primarily interacts with NUFIP2, the absence of ATXN2L results in NUFIP2 depletion, and the ATXN2-polyQ expansion triggers NUFIP2 accumulation.
PMID: 40220918
Neurobiol Dis · 2025
0.84
4
TRIM4 modulates the ubiquitin-mediated degradation of hnRNPDL and weakens sensitivity to CDK4/6 inhibitor in ovarian cancer.
PMID: 39643799
Front Med · 2025
0.80
5
hnRNPDL extensively regulates transcription and alternative splicing.
PMID: 30447347
Gene · 2019
0.70