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Genetics Home Reference: your guide to understanding genetic conditions
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TRAPPC2

Reviewed June 2008

What is the official name of the TRAPPC2 gene?

The official name of this gene is “trafficking protein particle complex 2.”

TRAPPC2 is the gene's official symbol. The TRAPPC2 gene is also known by other names, listed below.

What is the normal function of the TRAPPC2 gene?

The TRAPPC2 gene provides instructions for producing the protein sedlin, which is active (expressed) in cells throughout the body. The function of sedlin is unclear. Researchers believe that sedlin is part of a large molecule called the trafficking protein particle (TRAPP) complex, which plays a role in the transport of proteins between various cell compartments (organelles). It is thought that sedlin is located between two organelles, the endoplasmic reticulum and the Golgi apparatus. The endoplasmic reticulum is involved in protein processing and transport, and the Golgi apparatus modifies newly produced proteins. How sedlin participates in the movement of proteins between these two organelles is unknown.

How are changes in the TRAPPC2 gene related to health conditions?

X-linked spondyloepiphyseal dysplasia tarda - caused by mutations in the TRAPPC2 gene

At least 40 mutations in the TRAPPC2 gene have been found to cause X-linked spondyloepiphyseal dysplasia tarda. Most of these mutations delete one or more DNA building blocks (nucleotides) in the TRAPPC2 gene. All of the mutations result in a nonfunctional sedlin protein. Because sedlin is expressed throughout the body, it is unclear why mutations in the TRAPPC2 gene affect only bone growth.

Where is the TRAPPC2 gene located?

Cytogenetic Location: Xp22

Molecular Location on the X chromosome: base pairs 13,730,360 to 13,752,753

The TRAPPC2 gene is located on the short (p) arm of the X chromosome at position 22.

The TRAPPC2 gene is located on the short (p) arm of the X chromosome at position 22.

More precisely, the TRAPPC2 gene is located from base pair 13,730,360 to base pair 13,752,753 on the X chromosome.

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 TRAPPC2?

You and your healthcare professional may find the following resources about TRAPPC2 helpful.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1145/)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for TRAPPC2 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6399%5Bgeneid%5D)

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

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(TRAPPC2%5BALL%5D)%20OR%20((SEDL%5BTIAB%5D)%20OR%20(sedlin%5BTIAB%5D)%20OR%20(SEDT%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%202520%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/300202)

  • Research Resources - Tools for researchers

    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/6399)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=6399)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=23068)

What other names do people use for the TRAPPC2 gene or gene products?

  • MBP-1 interacting protein-2A
  • MIP-2A
  • SEDL
  • sedlin
  • SEDT
  • TPPC2_HUMAN
  • TRS20
  • ZNF547L

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 TRAPPC2?

cell ; DNA ; dysplasia ; endoplasmic reticulum ; expressed ; gene ; Golgi apparatus ; molecule ; protein

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

References

  • Christie PT, Curley A, Nesbit MA, Chapman C, Genet S, Harper PS, Keeling SL, Wilkie AO, Winter RM, Thakker RV. Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda. J Clin Endocrinol Metab. 2001 Jul;86(7):3233-6. (http://www.ncbi.nlm.nih.gov/pubmed/11443194?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/6399)
  • Gécz J, Hillman MA, Gedeon AK, Cox TC, Baker E, Mulley JC. Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda. Genomics. 2000 Oct 15;69(2):242-51. (http://www.ncbi.nlm.nih.gov/pubmed/11031107?dopt=Abstract)
  • Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole WG, Rimoin DL, Kousseff BG, Ohashi H, Zabel B, Munnich A, Gecz J, Mulley JC. The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. Am J Hum Genet. 2001 Jun;68(6):1386-97. Epub 2001 May 8. (http://www.ncbi.nlm.nih.gov/pubmed/11349230?dopt=Abstract)
  • Jang SB, Kim YG, Cho YS, Suh PG, Kim KH, Oh BH. Crystal structure of SEDL and its implications for a genetic disease spondyloepiphyseal dysplasia tarda. J Biol Chem. 2002 Dec 20;277(51):49863-9. Epub 2002 Oct 1. (http://www.ncbi.nlm.nih.gov/pubmed/12361953?dopt=Abstract)
  • Mumm S, Zhang X, Vacca M, D'Esposito M, Whyte MP. The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site. Gene. 2001 Aug 8;273(2):285-93. (http://www.ncbi.nlm.nih.gov/pubmed/11595175?dopt=Abstract)
  • OMIM: TRACKING PROTEIN PARTICLE COMPLEX, SUBUNIT 2 (http://omim.org/entry/300202)

 

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: June 2008
Published: May 20, 2013