Gene: ROR2

Alternate names for this Gene: BDB|BDB1|NTRKR2

Gene Summary: The protein encoded by this gene is a receptor protein tyrosine kinase and type I transmembrane protein that belongs to the ROR subfamily of cell surface receptors. The protein may be involved in the early formation of the chondrocytes and may be required for cartilage and growth plate development. Mutations in this gene can cause brachydactyly type B, a skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. In addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome, which is characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance.

Gene is located in Chromosome: 9

Location in Chromosome : 9q22.31

Description of this Gene: receptor tyrosine kinase like orphan receptor 2

Type of Gene: protein-coding

rs117134265 in ROR2 gene and Arthrogryposis PMID 31680123 2020 The genomic and clinical landscape of fetal akinesia.

rs10761129 in ROR2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10820904 in ROR2 gene and Body mass index PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.

rs117134265 in ROR2 gene and Early severe fetal akinesia sequence PMID 31680123 2020 The genomic and clinical landscape of fetal akinesia.

rs121909083 in ROR2 gene and Robinow syndrome, autosomal recessive PMID 10932186 2000 Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.

PMID 10932187 2000 Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.

PMID 19640924 2009 A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes.