ROR2 receptor tyrosine kinase like orphan receptor 2
Gene ID: 4920, updated on 10-Oct-2024Gene type: protein coding
Also known as: BDB; BDB1; NTRKR2
- See all available tests in GTR for this gene
- Go to complete Gene record for ROR2
- Go to Variation Viewer for ROR2 variants
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. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autosomal recessive Robinow syndrome | not available |
| Brachydactyly type B1 | not available |
| Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2013-03-27) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2013-03-27) ClinGen Genome Curation Page |
Genomic context
- Location:
- 9q22.31
- Sequence:
- Chromosome: 9; NC_000009.12 (91722601..91950228, complement)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ROR2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- ROR2 @ LOVD
- Variation ViewerRelated Variants
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