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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

C2orf71

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

What is the official name of the C2orf71 gene?

The official name of this gene is “chromosome 2 open reading frame 71.”

C2orf71 is the gene's official symbol. The C2orf71 gene is also known by other names, listed below.

What is the normal function of the C2orf71 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/388939):

The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. [provided by RefSeq, Jun 2010]

From UniProt (http://www.uniprot.org/uniprot/A6NGG8):

May play an important role in the development of normal vision.

How are changes in the C2orf71 gene related to health conditions?

Genetics Home Reference provides information about retinitis pigmentosa, which is associated with changes in the C2orf71 gene.
UniProt (http://www.uniprot.org/uniprot/A6NGG8) provides the following information about the C2orf71 gene's known or predicted involvement in human disease.

Retinitis pigmentosa 54 (RP54): A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by mutations affecting the gene represented in this entry.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/388939) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the C2orf71 gene.
  • Retinitis pigmentosa 54
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the C2orf71 gene and its association with health conditions.
OMIM
Number
Title

Where is the C2orf71 gene located?

Cytogenetic Location: 2p23.2

Molecular Location on chromosome 2: base pairs 29,061,689 to 29,074,260

The C2orf71 gene is located on the short (p) arm of chromosome 2 at position 23.2.

The C2orf71 gene is located on the short (p) arm of chromosome 2 at position 23.2.

More precisely, the C2orf71 gene is located from base pair 29,061,689 to base pair 29,074,260 on chromosome 2.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about C2orf71?

You and your healthcare professional may find the following resources about C2orf71 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 C2orf71 gene or gene products?

  • RP54

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding C2orf71?

cilium ; expressed ; fundus ; gene ; lipid ; peripheral ; photoreceptor ; pigment ; protein ; recessive

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Published: December 22, 2014