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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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RNF13
ring finger protein 13
Chromosome 3 Β· 3q25.1
NCBI Gene: 11342Ensembl: ENSG00000082996.21HGNC: HGNC:10057UniProt: O43567
43PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
organelle localizationprotein bindingJUN kinase bindinglysosomal membranegenetic developmental and epileptic encephalopathyattention deficit hyperactivity disordersubstance abusemyocardial infarction
✦AI Summary

RNF13 (ring finger protein 13) is an E3 ubiquitin ligase that functions as a crucial regulator of multiple cellular processes including protein degradation, lysosomal positioning, and stress responses 1. The protein contains an N-terminal protease-associated domain and C-terminal RING finger domain separated by a transmembrane region, allowing it to localize to endosomal and lysosomal membranes 2. RNF13 mediates K48-linked polyubiquitination of target proteins, promoting their proteasomal degradation, as demonstrated with LAMP-1 at residue K128 1. The protein plays protective roles in pathological conditions by stabilizing the p62-mediated Nrf2/HO-1 signaling pathway, which is important in both cardiac hypertrophy and cerebral ischemia-reperfusion injury 34. RNF13 also regulates lysosomal positioning through pH- and Ca2+-dependent mechanisms, specifically by degrading ARL8B in response to elevated intracellular pH and Ca2+ signaling 5. Disease relevance includes developmental and epileptic encephalopathy 73 (DEE73), where variants L311S and L312P disrupt endosomal localization and AP-3 complex association 6. Additionally, RNF13 fusion proteins (RNF13::PAK2) have been identified in certain skin adnexal tumors 7, suggesting oncogenic potential in specific contexts.

Sources cited
1
RNF13 is an E3 ubiquitin ligase that mediates K48-linked polyubiquitination of LAMP-1 at K128 for proteasomal degradation
PMID: 39031743
2
RNF13 contains N-terminal protease-associated domain and C-terminal RING finger domain separated by transmembrane region, localizing to endosomal membranes
PMID: 21078126
3
RNF13 protects against cardiac hypertrophy by interacting with p62 and promoting NRF2/HO-1 signaling activation
PMID: 37852547
4
RNF13 protects neurons against ischemia-reperfusion injury by stabilizing p62-mediated Nrf2/HO-1 signaling pathway
PMID: 39511649
5
RNF13 regulates lysosomal positioning via pH- and Ca2+-dependent degradation of ARL8B
PMID: 40714633
6
DEE73-associated RNF13 variants L311S and L312P disrupt endosomal localization and AP-3 complex association
PMID: 34831286
7
RNF13::PAK2 fusion proteins are found in certain skin adnexal tumors with follicular differentiation
PMID: 40689944
Disease Associationsβ“˜21
genetic developmental and epileptic encephalopathyOpen Targets
0.63Moderate
attention deficit hyperactivity disorderOpen Targets
0.29Weak
substance abuseOpen Targets
0.28Weak
myocardial infarctionOpen Targets
0.24Weak
vertebral column disorderOpen Targets
0.23Weak
corneal ulcerOpen Targets
0.22Weak
nephritisOpen Targets
0.22Weak
bone fractureOpen Targets
0.20Weak
neoplasmOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
non-alcoholic steatohepatitisOpen Targets
0.07Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
dominant beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin E diseaseOpen Targets
0.04Suggestive
type 2 diabetes mellitusOpen Targets
0.03Suggestive
delta-beta-thalassemiaOpen Targets
0.03Suggestive
Alpha-thalassemia - myelodysplastic syndromeOpen Targets
0.03Suggestive
alpha-thalassemia-myelodysplastic syndromeOpen Targets
0.03Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.03Suggestive
Developmental and epileptic encephalopathy 73UniProt
Pathogenic Variants7
NM_183381.3(RNF13):c.881_882del (p.Asp293_Ser294insTer)Pathogenic
not provided|Developmental and epileptic encephalopathy, 73
β˜…β˜…β˜†β˜†2024β†’ Residue 293
NM_183381.3(RNF13):c.901G>T (p.Glu301Ter)Pathogenic
Developmental and epileptic encephalopathy, 73
β˜…β˜†β˜†β˜†2024β†’ Residue 301
NM_183381.3(RNF13):c.932T>A (p.Leu311Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 311
NM_183381.3(RNF13):c.932del (p.Leu311fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 311
NM_183381.3(RNF13):c.932T>C (p.Leu311Ser)Pathogenic
Developmental and epileptic encephalopathy, 73
β˜†β˜†β˜†β˜†2020β†’ Residue 311
NM_183381.3(RNF13):c.935T>C (p.Leu312Pro)Pathogenic
Developmental and epileptic encephalopathy, 73
β˜†β˜†β˜†β˜†2020β†’ Residue 312
NM_183381.3(RNF13):c.919G>T (p.Glu307Ter)Likely pathogenic
Developmental and epileptic encephalopathy, 73
β˜†β˜†β˜†β˜†2019β†’ Residue 307
View on ClinVar β†—
Related Genes
UBA52Protein interaction100%UBBProtein interaction100%UBCProtein interaction100%UBE2D2Protein interaction90%AP3S1Protein interaction78%RNF133Shared pathway67%
Tissue Expression6 tissues
Brain
100%
Lung
56%
Heart
47%
Liver
44%
Ovary
29%
Bone Marrow
20%
Gene Interaction Network
Click a node to explore
RNF13UBA52UBBUBCUBE2D2AP3S1RNF133
PROTEIN STRUCTURE
Preparing viewer…
PDB5ZC4 Β· 1.91 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.81LoF Tolerant
pLIβ“˜
0.59Intermediate
Observed/Expected LoF0.31 [0.14–0.81]
RankingsWhere RNF13 stands among ~20K protein-coding genes
  • #9,781of 20,598
    Most Researched43
  • #3,229of 5,498
    Most Pathogenic Variants7
  • #6,850of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedRNF13
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
E3 Ubiquitin Ligase RNF13 Suppresses TLR Lysosomal Degradation by Promoting LAMP-1 Proteasomal Degradation.
PMID: 39031743
Adv Sci (Weinh) Β· 2024
1.00
2
RNF13 protects neurons against ischemia-reperfusion injury via stabilizing p62-mediated Nrf2/HO-1 signaling pathway.
PMID: 39511649
Cell Commun Signal Β· 2024
0.90
3
RNF13 mediates pH- and Ca
PMID: 40714633
Cell Rep Β· 2025
0.80
4
YAP1::MAML2, YAP1::NUTM1, and RNF13::PAK2 rearrangements in trichoblastomas and adnexal tumors with panfollicular differentiation: expanding the spectrum of YAP1/PAK-fused skin adnexal tumors.
PMID: 40689944
Virchows Arch Β· 2025
0.70
5
RNF13 Dileucine Motif Variants L311S and L312P Interfere with Endosomal Localization and AP-3 Complex Association.
PMID: 34831286
Cells Β· 2021
0.60