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.
PDZRN3
PDZ domain containing ring finger 3
Chromosome 3 Β· 3p13
NCBI Gene: 23024Ensembl: ENSG00000121440.15HGNC: HGNC:17704UniProt: B7Z2I8
50PubMed Papers
20Diseases
0Drugs
3Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingcytosolneuromuscular junction developmentprotein ubiquitinationhair colorcutaneous mastocytosisShort staturethyroiditis
✦AI Summary

PDZRN3 (PDZ domain containing ring finger 3) is an E3 ubiquitin-protein ligase that functions as a key regulator of protein trafficking and cellular differentiation. The protein contains a RING-finger motif, two PDZ domains, and nuclear localization signals, enabling its role as a ubiquitin ligase 1. PDZRN3 mediates ubiquitination-dependent endocytosis of multiple substrates: it promotes MUSK degradation during myogenic differentiation 2, regulates CLDN16 localization in renal tubules to control Mg2+ reabsorption 3, and modulates SMCT1 transporter function by competing with PDZK1 4. PDZRN3 is regulated by Wnt5a-Ror signaling through phosphorylation-dependent proteasomal degradation, which is essential for cell migration 5. Notably, PDZRN3 expression is high during heart development but decreases postnatally; overexpression causes eccentric hypertrophic cardiomyopathy and heart failure, while knockout protects against pressure-overload-induced dysfunction 6. Additionally, HPV-16 and HPV-18 E6 proteins target PDZRN3 for proteasomal degradation via its PDZ binding motif, linking viral infection to disrupted STAT signaling 7. These findings establish PDZRN3 as a multifunctional ubiquitin ligase critical for tissue homeostasis, differentiation, and ion balance with potential implications in viral pathogenesis and cardiac disease.

Sources cited
1
PDZRN3 is a novel LNX family member with RING and PDZ domains; structural characterization and domain architecture
PMID: 15010864
2
PDZRN3 is required for C2C12 myoblast differentiation into myotubes and is upregulated during myogenesis
PMID: 17118964
3
PDZRN3 mediates mono-ubiquitination and endocytosis of CLDN16 to regulate Mg2+ reabsorption in kidney
PMID: 28623232
4
PDZRN3 interacts with SMCT1 through its PDZ domain and antagonizes PDZK1-mediated enhancement of transporter activity
PMID: 31098988
5
PDZRN3 is a regulatory target of Wnt5a-Ror signaling; phosphorylation-dependent degradation is essential for cell migration
PMID: 34135125
6
Pdzrn3 downregulation is required for heart maturation; overexpression causes heart failure; knockout protects against pressure-overload dysfunction
PMID: 34996942
7
HPV-16 and HPV-18 E6 proteins target PDZRN3 for proteasome-mediated degradation via PDZ-binding interaction
PMID: 25355882
Disease Associationsβ“˜20
hair colorOpen Targets
0.39Weak
cutaneous mastocytosisOpen Targets
0.36Weak
Short statureOpen Targets
0.32Weak
thyroiditisOpen Targets
0.30Weak
trauma complicationOpen Targets
0.30Weak
MastocytosisOpen Targets
0.29Weak
Abnormality of the gastrointestinal tractOpen Targets
0.28Weak
Abruptio PlacentaeOpen Targets
0.28Weak
Hernia of the abdominal wallOpen Targets
0.28Weak
ankylosing spondylitisOpen Targets
0.27Weak
flatulenceOpen Targets
0.27Weak
ovarian dysfunctionOpen Targets
0.27Weak
Rare pervasive developmental disorderOpen Targets
0.27Weak
Abdominal painOpen Targets
0.26Weak
cartilage diseaseOpen Targets
0.26Weak
Limb painOpen Targets
0.26Weak
HeadacheOpen Targets
0.25Weak
cataractOpen Targets
0.24Weak
polyarteritis nodosaOpen Targets
0.24Weak
hemangioma of subcutaneous tissueOpen Targets
0.23Weak
Pathogenic Variants3
NM_015009.3(PDZRN3):c.820G>A (p.Asp274Asn)Likely pathogenic
Childhood-onset schizophrenia
β˜…β˜†β˜†β˜†2014β†’ Residue 274
NM_015009.3(PDZRN3):c.2101A>C (p.Ser701Arg)Likely pathogenic
Short stature
β˜†β˜†β˜†β˜†2001β†’ Residue 701
NM_015009.3(PDZRN3):c.1417-10T>CLikely pathogenic
Short stature
β˜†β˜†β˜†β˜†2001
View on ClinVar β†—
Related Genes
PPFIBP2Shared pathway100%MUSKProtein interaction51%KYShared pathway50%GABPAShared pathway33%PPFIBP1Shared pathway25%DOK7Shared pathway25%
Tissue Expression6 tissues
Heart
100%
Ovary
90%
Lung
18%
Brain
16%
Liver
2%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
PDZRN3PPFIBP2MUSKKYGABPAPPFIBP1DOK7
PROTEIN STRUCTURE
Preparing viewer…
PDB1UHP Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.59Moderately Constrained
pLIβ“˜
0.39Tolerant
Observed/Expected LoF0.40 [0.28–0.59]
RankingsWhere PDZRN3 stands among ~20K protein-coding genes
  • #8,857of 20,598
    Most Researched50
  • #4,061of 5,498
    Most Pathogenic Variants3
  • #4,012of 17,882
    Most Constrained (LOEUF)0.59 Β· top quartile
Genes detectedPDZRN3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PDZRN3/LNX3 is a novel target of human papillomavirus type 16 (HPV-16) and HPV-18 E6.
PMID: 25355882
J Virol Β· 2015
1.00
2
Identification and characterization of PDZRN3 and PDZRN4 genes in silico.
PMID: 15010864
Int J Mol Med Β· 2004
0.90
3
Decrease of Pdzrn3 is required for heart maturation and protects against heart failure.
PMID: 34996942
Sci Rep Β· 2022
0.80
4
Proteomic analysis identifies the E3 ubiquitin ligase Pdzrn3 as a regulatory target of Wnt5a-Ror signaling.
PMID: 34135125
Proc Natl Acad Sci U S A Β· 2021
0.70
5
Identification and characterization of human PDZRN4L gene and mouse Pdzrn4l gene in silico.
PMID: 15138636
Int J Mol Med Β· 2004
0.60