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RNF213

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

Compound heterozygous changes in the RNF213 gene were identified in a UDN participant with low oxygen level in the blood (chronic hypoxemia), lung disease that causes lung scarring (pulmonary fibrosis), respiratory failure, and delayed speech and language development.

Date of Report

Oct 16, 2023

Full Name

ring finger protein 213

Location
Chromosome 17q25.3
RNF213.png

Function

RNF213 acts as a key immune sensor by restricting the proliferation of cytosolic bacteria, such as Salmonella. It is involved in degradation of microbial invaders by autophagy. (Otten et al., 2021). It is involved in lipid metabolism by regulating fat storage and is involved with lipid droplet formation (Sugihara et al., 2019). It regulates lipotoxicity by inhibiting desaturation of fatty acids (Piccolis et al., 2019). It is involved in the non-canonical Wnt signaling pathway in vascular development (Scholz et al., 2016).  

Database Links

GeneCards: RNF213   

MedlinePlus Genetics: RNF213 

NCBI Gene: 57674 

OMIM: 613768 

UniProtKB/Swiss-Prot: Q63HN8 

Clinical Significance

Compound heterozygous changes in this gene were identified in a UDN participant.

Gene RNF213
Inheritance Pattern Unknown
Position (hg19) chr17:g.78322089G>T & g.78280174T>C
Transcript NM_001256071.1
DNA Change c.9951+3G>T & c.2333T>C
Protein Change N/A & p.Ile778Thr
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