ROR2

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ROR2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesROR2, BDB, BDB1, NTRKR2, receptor tyrosine kinase like orphan receptor 2
External IDsOMIM: 602337 MGI: 1347521 HomoloGene: 55831 GeneCards: ROR2
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004560
NM_001318204

NM_013846

RefSeq (protein)

NP_001305133
NP_004551

NP_038874

Location (UCSC)Chr 9: 91.56 – 91.95 MbChr 13: 53.26 – 53.44 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5][6][7] 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

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.[5]

Clinical significance

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.[5]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000169071 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021464 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b c "Entrez Gene: receptor tyrosine kinase-like orphan receptor 2".
  6. ^ 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. doi:10.1016/S0021-9258(18)35733-8. PMID 1334494.
  7. ^ 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. S2CID 40179047.

Further reading

External links

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