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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


The information on this page was automatically extracted from online scientific databases.

What is the official name of the RNF135 gene?

The official name of this gene is “ring finger protein 135.”

RNF135 is the gene's official symbol. The RNF135 gene is also known by other names, listed below.

What is the normal function of the RNF135 gene?

From NCBI Gene (

The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene is located in a chromosomal region known to be frequently deleted in patients with neurofibromatosis. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

From UniProt (RN135_HUMAN) (

Acts as an E2-dependent E3 ubiquitin-protein ligase, involved in innate immune defense against viruses. Ubiquitinates DDX58 and is required for full activation of the DDX58 signaling resulting in interferon beta production.

How are changes in the RNF135 gene related to health conditions?

UniProt (RN135_HUMAN) ( provides the following information about the RNF135 gene's known or predicted involvement in human disease.

Macrocephaly, macrosomia, facial dysmorphism syndrome (MMFD): An autosomal dominant disorder characterized by the association of macrothrombocytopathy and progressive sensorineural hearing loss without renal dysfunction. The disease is caused by mutations affecting the gene represented in this entry.

NCBI Gene ( lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the RNF135 gene.
  • Macrocephaly, macrosomia, facial dysmorphism syndrome (, a catalog designed for genetics professionals and researchers, provides the following information about the RNF135 gene and its association with health conditions.

Where is the RNF135 gene located?

Cytogenetic Location: 17q11.2

Molecular Location on chromosome 17: base pairs 30,958,921 to 30,999,911

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (

The RNF135 gene is located on the long (q) arm of chromosome 17 at position 11.2.

The RNF135 gene is located on the long (q) arm of chromosome 17 at position 11.2.

More precisely, the RNF135 gene is located from base pair 30,958,921 to base pair 30,999,911 on chromosome 17.

See How do geneticists indicate the location of a gene? ( in the Handbook.

Where can I find additional information about RNF135?

You and your healthcare professional may find the following resources about RNF135 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the RNF135 gene or gene products?

  • L13
  • MMFD
  • REUL
  • Riplet

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding RNF135?

autosomal ; autosomal dominant ; DNA ; domain ; gene ; isoforms ; ligase ; macrocephaly ; motif ; protein ; renal ; sensorineural ; sensorineural hearing loss ; syndrome ; transcript ; ubiquitin

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? ( in the Handbook.

Published: February 8, 2016