What is the official name of the UBQLN2 gene?
The official name of this gene is “ubiquilin 2.”
UBQLN2 is the gene's official symbol. The UBQLN2 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 UBQLN2 gene?
- From NCBI Gene:
This gene encodes an ubiquitin-like protein (ubiquilin) that shares high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain a N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases; and thus, are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to bind the ATPase domain of the Hsp70-like Stch protein. [provided by RefSeq, Oct 2009]
- From UniProt:
Increases the half-life of proteins destined to be degraded by the proteasome; may modulate proteasome-mediated protein degradation.
How are changes in the UBQLN2 gene related to health conditions?
- Genetics Home Reference provides information about amyotrophic lateral sclerosis, which is associated with changes in the UBQLN2 gene.
- UniProt provides the following information about the UBQLN2 gene's known or predicted involvement in human disease.
Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15): A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Patients with ALS15 may develop frontotemporal dementia. 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 UBQLN2 gene.
- Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
- 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.
Where is the UBQLN2 gene located?
Cytogenetic Location: Xp11.21
Molecular Location on the X chromosome: base pairs 56,563,592 to 56,567,009
The UBQLN2 gene is located on the short (p) arm of the X chromosome at position 11.21.
More precisely, the UBQLN2 gene is located from base pair 56,563,592 to base pair 56,567,009 on the X chromosome.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about UBQLN2?
You and your healthcare professional may find the following resources about UBQLN2 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 UBQLN2 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 UBQLN2?
brain stem ;
in vivo ;
You may find definitions for these and many other terms in the Genetics Home Reference
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
See How can I find a genetics professional in my area? in the Handbook.