ROR2
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ROR2 (HGNC:10257) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
receptor tyrosine kinase like orphan receptor 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
NTRKR2, BDB, BDB1
Alias symbols
No aliases found
%HI
53.78(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.34(Read more about gnomAD pLI score)
LOEUF
0.54(Read more about gnomAD LOEUF score)
Cytoband
9q22.31
Genomic Coordinates
GRCh37/hg19: chr9:94484883-94712510 NCBI Ensembl UCSC
GRCh38/hg38: chr9:91722601-91950228 NCBI Ensembl UCSC
MANE Select Transcript
NM_004560.4 ENST00000375708.4 (Read more about MANE Select)
Function
Tyrosine-protein kinase receptor which may be involved in the early formation of the chondrocytes. It seems to be required for cartilage and growth plate development (By similarity). Phosphorylates YWHAB, leading to induction of osteogenesis and bone formation (PubMed:17717073). In contrast, has also been shown to have very little tyrosine kinase activity in vitro. May act as a receptor for wnt ligand WNT5A which may result in the inhibition of WNT3A-mediated signaling (PubMed:25029443). {ECO:00... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-17328
ClinGen Curation ID:
CCID:007777
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
03/27/2013

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Oldridge et al. 2000 (PMID 10700182) describe 2 nonsense and 1 frameshift mutation in ROR2 as the cause of the patient's brachydactyly type B (BDB). The authors suggest that the mutations result in a gain of function of the protein. This hypothesis is supported by the observation that two individuals with het dels of 9q22 including ROR2 do not have BDB. Since loss of function is not the mechanism of these mutations (rather, gain of function is the mutation mechanism), this gene has been given a score of 0. Loss of function mutations are associated with autosomal recessive Robinow syndrome (OMIM 268310).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000009.11) (NC_000009.12)