ROR2

ROR2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3ZZW, 4GT4
Identifiers
Aliases	ROR2, BDB, BDB1, NTRKR2, receptor tyrosine kinase like orphan receptor 2
External IDs	OMIM: 602337; MGI: 1347521; HomoloGene: 55831; GeneCards: ROR2; OMA:ROR2 - orthologs
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q22.31 Start 91,563,091 bp[1] End 91,950,228 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13 B1|13 27.68 cM Start 53,263,348 bp[2] End 53,440,160 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in muscle layer of sigmoid colon gastric mucosa body of uterus canal of the cervix ectocervix right ovary gonad left uterine tube right auricle left ovary Top expressed in primitive streak muscle layer of urethra external carotid artery internal carotid artery vas deferens Paneth cell dermis condyle endocardial cushion migratory enteric neural crest cell More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity nucleotide binding protein kinase activity frizzled binding metal ion binding kinase activity Wnt-protein binding protein binding transmembrane receptor protein tyrosine kinase activity protein tyrosine kinase activity ATP binding coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway mitogen-activated protein kinase kinase kinase binding receptor tyrosine kinase transmembrane signaling receptor activity Cellular component integral component of membrane clathrin-coated endocytic vesicle membrane membrane plasma membrane integral component of plasma membrane cytoplasm microtubule cell surface dendrite neuronal cell body axon receptor complex Biological process somitogenesis skeletal system development cell differentiation cell fate commitment SMAD protein signal transduction phosphorylation transmembrane receptor protein tyrosine kinase signaling pathway positive regulation of cell migration positive regulation of canonical Wnt signaling pathway regulation of canonical Wnt signaling pathway embryonic digit morphogenesis Wnt signaling pathway BMP signaling pathway multicellular organism development positive regulation of transcription, DNA-templated embryonic genitalia morphogenesis JNK cascade protein phosphorylation Wnt signaling pathway, calcium modulating pathway inner ear morphogenesis smoothened signaling pathway negative regulation of canonical Wnt signaling pathway cartilage condensation signal transduction negative regulation of cell population proliferation peptidyl-tyrosine phosphorylation Wnt signaling pathway, planar cell polarity pathway astrocyte development bone mineralization male genitalia development positive regulation of JUN kinase activity positive regulation of macrophage differentiation positive regulation of synaptic transmission, glutamatergic positive regulation of protein kinase C activity macrophage migration negative regulation of signal transduction negative regulation of apoptotic process positive regulation of ERK1 and ERK2 cascade anatomical structure development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4920 26564 Ensembl ENSG00000169071 ENSMUSG00000021464 UniProt Q01974 Q9Z138 Q8C3W2 RefSeq (mRNA) NM_004560 NM_001318204 NM_013846 RefSeq (protein) NP_001305133 NP_004551 NP_038874 Location (UCSC) Chr 9: 91.56 – 91.95 Mb Chr 13: 53.26 – 53.44 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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

Further reading

External links

• GeneReviews/NCBI/NIH/UW entry on ROR2-Related Robinow Syndrome
• GeneCard for ROR2

• ROR2 Mutations Cause Brachydactyly Type B and Robinow Syndrome

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