Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed March 2008

What is the official name of the ROR2 gene?

The official name of this gene is “receptor tyrosine kinase-like orphan receptor 2.”

ROR2 is the gene's official symbol. The ROR2 gene is also known by other names, listed below.

What is the normal function of the ROR2 gene?

The ROR2 gene provides instructions for making a protein whose function is not well understood. The ROR2 protein is part of a family of proteins known as receptor protein kinases (RTKs), which play a role in chemical signaling within cells. Receptor protein kinases are involved in many cell functions, including cell growth and division (proliferation), the process by which cells mature to carry out specific functions (differentiation), cell survival, and cell movement (motility).

Researchers believe that the ROR2 protein plays an essential role in development before birth. It is involved in a chemical signaling pathway called WNT signaling, which affects many aspects of embryonic development. This pathway controls the activity of genes needed at specific times during development, and it regulates the interactions between cells as organs and tissues are forming. Based on studies in animals, the ROR2 protein appears to be critical for the normal formation of the skeleton, heart, and genitals.

Does the ROR2 gene share characteristics with other genes?

The ROR2 gene belongs to a family of genes called immunoglobulin superfamily, I-set domain containing (immunoglobulin superfamily, I-set domain containing).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? ( in the Handbook.

How are changes in the ROR2 gene related to health conditions?

Robinow syndrome - caused by mutations in the ROR2 gene

At least 12 mutations in the ROR2 gene have been found to cause the autosomal recessive form of Robinow syndrome. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. Some of these mutations change single protein building blocks (amino acids) in the ROR2 protein, while others lead to the production of an abnormally short, nonfunctional version of the protein. Because these genetic changes prevent any functional ROR2 protein from being made, they are described as "loss-of-function" mutations. A shortage of ROR2 protein disrupts embryonic development, particularly the formation of bones in the face, spine, and limbs, which leads to the skeletal abnormalities characteristic of Robinow syndrome. A lack of this protein during early development also underlies the other features of Robinow syndrome, including genital abnormalities and heart defects.

other disorders - caused by mutations in the ROR2 gene

Several mutations in the ROR2 gene have been identified in people with a disorder called brachydactyly type B1. This condition is characterized by abnormally short fingers and toes, particularly the fourth and fifth digits, and malformed or absent fingernails and toenails. Brachydactyly type B1 has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Unlike the mutations that cause Robinow syndrome, the ROR2 mutations responsible for brachydactyly type B1 are described as "gain-of-function" mutations. These genetic changes probably cause the ROR2 protein to be continuously active. It is unclear how the overactive protein disrupts the formation of bones in the hands and feet.

Where is the ROR2 gene located?

Cytogenetic Location: 9q22

Molecular Location on chromosome 9: base pairs 91,722,595 to 91,950,161

The ROR2 gene is located on the long (q) arm of chromosome 9 at position 22.

The ROR2 gene is located on the long (q) arm of chromosome 9 at position 22.

More precisely, the ROR2 gene is located from base pair 91,722,595 to base pair 91,950,161 on chromosome 9.

See How do geneticists indicate the location of a gene? ( in the Handbook.

Where can I find additional information about ROR2?

You and your healthcare professional may find the following resources about ROR2 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 ROR2 gene or gene products?

  • BDB1
  • brachydactyly type B1 gene
  • neurotrophic tyrosine kinase receptor-related 2 gene
  • NTRKR2

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding ROR2?

acids ; autosomal ; autosomal dominant ; autosomal recessive ; brachydactyly ; cell ; differentiation ; embryonic ; gene ; genitals ; inheritance ; kinase ; pattern of inheritance ; proliferation ; protein ; receptor ; recessive ; syndrome ; tyrosine

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (


  • Afzal AR, Jeffery S. One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B. Hum Mutat. 2003 Jul;22(1):1-11. (
  • Afzal AR, Rajab A, Fenske CD, Oldridge M, Elanko N, Ternes-Pereira E, Tüysüz B, Murday VA, Patton MA, Wilkie AO, Jeffery S. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nat Genet. 2000 Aug;25(4):419-22. (
  • Ali BR, Jeffery S, Patel N, Tinworth LE, Meguid N, Patton MA, Afzal AR. Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum. Hum Genet. 2007 Nov;122(3-4):389-95. Epub 2007 Jul 31. (
  • Forrester WC. The Ror receptor tyrosine kinase family. Cell Mol Life Sci. 2002 Jan;59(1):83-96. Review. (
  • Gene Review: ROR2-Related Robinow Syndrome (
  • Li C, Chen H, Hu L, Xing Y, Sasaki T, Villosis MF, Li J, Nishita M, Minami Y, Minoo P. Ror2 modulates the canonical Wnt signaling in lung epithelial cells through cooperation with Fzd2. BMC Mol Biol. 2008 Jan 23;9:11. doi: 10.1186/1471-2199-9-11. (
  • NCBI Gene (
  • Oldridge M, Fortuna AM, Maringa M, Propping P, Mansour S, Pollitt C, DeChiara TM, Kimble RB, Valenzuela DM, Yancopoulos GD, Wilkie AO. Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. Nat Genet. 2000 Mar;24(3):275-8. (
  • Schwabe GC, Tinschert S, Buschow C, Meinecke P, Wolff G, Gillessen-Kaesbach G, Oldridge M, Wilkie AO, Kömec R, Mundlos S. Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. Am J Hum Genet. 2000 Oct;67(4):822-31. Epub 2000 Sep 12. (
  • Schwabe GC, Trepczik B, Süring K, Brieske N, Tucker AS, Sharpe PT, Minami Y, Mundlos S. Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome. Dev Dyn. 2004 Feb;229(2):400-10. (
  • van Bokhoven H, Celli J, Kayserili H, van Beusekom E, Balci S, Brussel W, Skovby F, Kerr B, Percin EF, Akarsu N, Brunner HG. Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nat Genet. 2000 Aug;25(4):423-6. (


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? ( in the Handbook.

Reviewed: March 2008
Published: March 23, 2015