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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®

HS1BP3

Reviewed February 2008

What is the official name of the HS1BP3 gene?

The official name of this gene is “HCLS1 binding protein 3.”

HS1BP3 is the gene's official symbol. The HS1BP3 gene is also known by other names, listed below.

What is the normal function of the HS1BP3 gene?

The HS1BP3 gene provides instructions for making a protein called hematopoietic-specific protein 1 binding protein 3. This protein is believed to help regulate chemical signaling in the brain region involved in coordinating movements (the cerebellum) and in specialized nerve cells in the brain and spinal cord that control the muscles (motor neurons).

Where is the HS1BP3 gene located?

Cytogenetic Location: 2p24.1

Molecular Location on chromosome 2: base pairs 20,617,803 to 20,651,103

The HS1BP3 gene is located on the short (p) arm of chromosome 2 at position 24.1.

The HS1BP3 gene is located on the short (p) arm of chromosome 2 at position 24.1.

More precisely, the HS1BP3 gene is located from base pair 20,617,803 to base pair 20,651,103 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 HS1BP3?

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the HS1BP3 gene or gene products?

  • ETM2
  • FLJ14249
  • H1BP3_HUMAN
  • HS1-binding protein 3
  • HS1-BP3

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 HS1BP3?

cerebellum ; gene ; hematopoietic ; motor ; protein

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

References

  • Deng H, Le W, Jankovic J. Genetics of essential tremor. Brain. 2007 Jun;130(Pt 6):1456-64. Epub 2007 Mar 12. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17353225?dopt=Abstract)
  • Deng H, Le WD, Guo Y, Huang MS, Xie WJ, Jankovic J. Extended study of A265G variant of HS1BP3 in essential tremor and Parkinson disease. Neurology. 2005 Aug 23;65(4):651-2. (http://www.ncbi.nlm.nih.gov/pubmed/16116142?dopt=Abstract)
  • Higgins JJ, Lombardi RQ, Pucilowska J, Jankovic J, Golbe LI, Verhagen L. HS1-BP3 gene variant is common in familial essential tremor. Mov Disord. 2006 Mar;21(3):306-9. (http://www.ncbi.nlm.nih.gov/pubmed/16211613?dopt=Abstract)
  • Higgins JJ, Lombardi RQ, Pucilowska J, Jankovic J, Tan EK, Rooney JP. A variant in the HS1-BP3 gene is associated with familial essential tremor. Neurology. 2005 Feb 8;64(3):417-21. (http://www.ncbi.nlm.nih.gov/pubmed/15699368?dopt=Abstract)
  • OMIM: HS1-BINDING PROTEIN 3 (http://omim.org/entry/609359)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/64342)

 

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.

 
Reviewed: February 2008
Published: September 29, 2014