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RNF135
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RNF135

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

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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 Entrez 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]

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 involvement in human disease.

Defects in RNF135 are the cause of RNF135-related overgrowth syndrome. RNF135-related overgrowth syndrome is characterized by overgrowth, learning disability, dysmorphic features and variable additional features.

Entrez GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known to be associated with changes in the RNF135 gene.
  • Overgrowth syndrome[1]This link leads to a site outside Genetics Home Reference.
UniProt and Entrez 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]611358This link leads to a site outside Genetics Home Reference.RING FINGER PROTEIN 135; RNF135

Where is the RNF135 gene located?

Cytogenetic Location: 17q11.2

Molecular Location on chromosome 17: base pairs 29,297,955 to 29,326,926

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 29,297,955 to base pair 29,326,926 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
  • MGC13061
  • Riplet

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

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?

DNA ; domain ; gene ; isoforms ; learning disability ; motif ; protein ; syndrome ; transcript

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: November 20, 2009