ROR2
entrez
4920
canonical
uniprot
Q01974
canonical
ensembl
ENSG00000169071
resolver
ensp
ENSP00000364860
resolver
ensp
ENSP00000663428
resolver
enst
ENST00000375708
resolver
genesymbol
ROR2
resolver
genesymbol_syn
NTRKR2
resolver
hgnc
HGNC:10257
resolver
uniprot
Q59GF5
resolver
uniprot
Q5SPI5
resolver
uniprot
Q9HAY7
resolver
uniprot
Q9HB61
resolver
uniprot_entry
ROR2_HUMAN
resolver
uniprot_sec
Q59GF5
resolver
uniprot_sec
Q5SPI5
resolver
uniprot_sec
Q9HAY7
resolver
uniprot_sec
Q9HB61
resolver
amino_acid_sequence
MARGSALPRRPLLCIPAVWAAAALLLSVSRTSGEVEVLDPNDPLGPLDGQDGPIPTLKGYFLNFLEPVNNITIVQGQTAILHCKVAGNPPPNVRWLKNDAPVVQEPRRIIIRKTEYGSRLRIQDLDTTDTGYYQCVATNGMKTITATGVLFVRLGPTHSPNHNFQDDYHEDGFCQPYRGIACARFIGNRTIYVDSLQMQGEIENRITAAFTMIGTSTHLSDQCSQFAIPSFCHFVFPLCDARSRTPKPRELCRDECEVLESDLCRQEYTIARSNPLILMRLQLPKCEALPMPESPDAANCMRIGIPAERLGRYHQCYNGSGMDYRGTASTTKSGHQCQPWALQHPHSHHLSSTDFPELGGGHAYCRNPGGQMEGPWCFTQNKNVRMELCDVPSCSPRDSSKMGILYILVPSIAIPLVIACLFFLVCMCRNKQKASASTPQRRQLMASPSQDMEMPLINQHKQAKLKEISLSAVRFMEELGEDRFGKVYKGHLFGPAPGEQTQAVAIKTLKDKAEGPLREEFRHEAMLRARLQHPNVVCLLGVVTKDQPLSMIFSYCSHGDLHEFLVMRSPHSDVGSTDDDRTVKSALEPPDFVHLVAQIAAGMEYLSSHHVVHKDLATRNVLVYDKLNVKISDLGLFREVYAADYYKLLGNSLLPIRWMAPEAIMYGKFSIDSDIWSYGVVLWEVFSYGLQPYCGYSNQDVVEMIRNRQVLPCPDDCPAWVYALMIECWNEFPSRRPRFKDIHSRLRAWGNLSNYNSSAQTSGASNTTQTSSLSTSPVSNVSNARYVGPKQKAPPFPQPQFIPMKGQIRPMVPPPQLYVPVNGYQPVPAYGAYLPNFYPVQIPMQMAPQQVPPQMVPKPSSHHSGSGSTSTGYVTTAPSNTSMADRAALLSEGADDTQNAPEDGAQSTVQEAEEEEEGSVPETELLGDCDTLQVDEAQVQLEA
uniprot
proteins
disease_involvement
DISEASE: Brachydactyly B1 (BDB1) [MIM:113000]: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type B1 the middle phalanges are short but in addition the terminal phalanges are rudimentary or absent. Both fingers and toes are affected. The thumbs and big toes are usually deformed. Symphalangism is also a feature. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Robinow syndrome, autosomal recessive 1 (RRS1) [MIM:268310]: A recessive form of Robinow syndrome, a disease characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The clinical signs are generally far more severe in recessive cases, particularly skeletal abnormalities. All patients with the recessive form suffer from vertebral segmentation abnormalities, resulting in scoliosis and chest deformities. Rib fusions are considered to be characteristic of the autosomal recessive form. Patients can also present brachydactyly, with extensive aplasia/hypoplasia of the phalanges and metacarpals/metatarsals, and brachy-syn-polydactyly of the hands and oligodactyly of the feet. {ECO:0000269|PubMed:10932186, ECO:0000269|PubMed:10932187}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.10.1
uniprot
proteins
function
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:0000250|UniProtKB:Q9Z138, ECO:0000269|PubMed:17717073, ECO:0000269|PubMed:25029443}.
uniprot
proteins
mass_dalton
104757
uniprot
proteins
mutagenesis
MUTAGEN 482; /note="D->G: Slight increase in kinase activity."; /evidence="ECO:0000269|PubMed:25029443
uniprot
proteins
protein_family
Protein kinase superfamily
uniprot
proteins
protein_family
ROR subfamily
uniprot
proteins
protein_family
Tyr protein kinase family
uniprot
proteins
pubmed
10700182
uniprot
proteins
pubmed
10932186
uniprot
proteins
pubmed
10932187
uniprot
proteins
pubmed
10986040
uniprot
proteins
pubmed
11062486
uniprot
proteins
pubmed
1334494
uniprot
proteins
pubmed
14752058
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
17717073
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
25029443
uniprot
proteins
pubmed
26035863
uniprot
proteins
sequence_length
943
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 404..424; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins