ROR2

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Receptor tyrosine kinase-like orphan receptor 2
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols ROR2 ; BDB; BDB1; NTRKR2
External IDs OMIM602337 MGI1347521 HomoloGene55831 GeneCards: ROR2 Gene
EC number 2.7.10.1
Orthologs
Species Human Mouse
Entrez 4920 26564
Ensembl ENSG00000169071 ENSMUSG00000021464
UniProt Q01974 Q9Z138
RefSeq (mRNA) NM_004560 NM_013846
RefSeq (protein) NP_004551 NP_038874
Location (UCSC) Chr 9:
94.33 – 94.71 Mb
Chr 13:
53.11 – 53.29 Mb
PubMed search [1] [2]

Tyrosine-protein kinase transmembrane receptor ROR2 also known as neurotrophic tyrosine kinase, receptor-related 2, is a protein that in humans is encoded by the ROR2 gene located on position 9 of the long arm of chromosome 9.[1][2][3] This protein is responsible for aspects of bone and cartilage growth. It is involved in Robinow syndrome and autosomal dominant brachydactyly type B. ROR2 is a member of the receptor tyrosine kinase-like orphan receptor (ROR) family.

Function[edit]

The protein encoded by this gene is a receptor 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.[1]

Clinical significance[edit]

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.[1]

References[edit]

  1. ^ a b c "Entrez Gene: receptor tyrosine kinase-like orphan receptor 2". 
  2. ^ Masiakowski P, Carroll RD (December 1992). "A novel family of cell surface receptors with tyrosine kinase-like domain". J. Biol. Chem. 267 (36): 26181–90. PMID 1334494. 
  3. ^ Oldridge M, Fortuna AM, Maringa M, Propping P, Mansour S, Pollitt C, DeChiara TM, Kimble RB, Valenzuela DM, Yancopoulos GD, Wilkie AO (March 2000). "Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B". Nat. Genet. 24 (3): 275–8. doi:10.1038/73495. PMID 10700182. 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.