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RNF135

RNF135

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.

Read more about gene names and symbols on the About page.

What is the normal function of the RNF135 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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 UniProtThis link leads to a site outside Genetics Home Reference.:

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?

UniProtThis link leads to a site outside Genetics Home Reference. 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.[1]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the RNF135 gene.
  • Macrocephaly, macrosomia, facial dysmorphism syndrome[1]This link leads to a site outside Genetics Home Reference.
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic
[1]

Where is the RNF135 gene located?

Cytogenetic Location: 17q11.2

Molecular Location on chromosome 17: base pairs 30,958,291 to 30,999,910

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 30,958,291 to base pair 30,999,910 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 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

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

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.

See also Understanding Medical Terminology.

 

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: April 17, 2014