What is the official name of the IMPG2 gene?
The official name of this gene is “interphotoreceptor matrix proteoglycan 2.”
IMPG2 is the gene's official symbol. The IMPG2 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 IMPG2 gene?
- From NCBI Gene:
The protein encoded by this gene binds chondroitin sulfate and hyaluronan and is a proteoglycan. The encoded protein plays a role in the organization of the interphotoreceptor matrix and may promote the growth and maintenance of the light-sensitive photoreceptor outer segment. Defects in this gene are a cause of retinitis pigmentosa type 56 and maculopathy, IMPG2-related.[provided by RefSeq, Mar 2011]
- From UniProt:
Chondroitin sulfate- and hyaluronan-binding proteoglycan involved in the organization of interphotoreceptor matrix; may participate in the maturation and maintenance of the light-sensitive photoreceptor outer segment. Binds heparin.
How are changes in the IMPG2 gene related to health conditions?
- Genetics Home Reference provides information about retinitis pigmentosa, which is associated with changes in the IMPG2 gene.
- UniProt provides the following information about the IMPG2 gene's known or predicted involvement in human disease.
Retinitis pigmentosa 56 (RP56): 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.
Maculopathy, IMPG2-related (MACLP-IMPG2): A mild maculopathy characterized by full-field electroretinogram responses within normal limits, normal color vision, elevation of the photoreceptor layer in the foveal region and mild nuclear sclerosis. 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 IMPG2 gene.
- MACULAR DYSTROPHY, VITELLIFORM, 5
- Retinitis pigmentosa 56
- OMIM.org, a catalog designed for genetics professionals and researchers, provides the following information about the IMPG2 gene and its association with health conditions.
Where is the IMPG2 gene located?
Cytogenetic Location: 3q12.2-q12.3
Molecular Location on chromosome 3: base pairs 101,222,545 to 101,320,574
The IMPG2 gene is located on the long (q) arm of chromosome 3 between positions 12.2 and 12.3.
More precisely, the IMPG2 gene is located from base pair 101,222,545 to base pair 101,320,574 on chromosome 3.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about IMPG2?
You and your healthcare professional may find the following resources about IMPG2 helpful.
- Genetic Testing Registry - Repository of genetic test information
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog
- Research Resources - Tools for researchers
What other names do people use for the IMPG2 gene or gene products?
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 IMPG2?
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
See How can I find a genetics professional in my area? in the Handbook.