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tyrosine-protein kinase transmembrane receptor ROR2; neurotrophic tyrosine kinase, receptor-related 2 (ROR2, NTRKR2)
Function:
- tyrosine-protein kinase receptor which may be involved in the early formation of the chondrocytes
- seems to be required for cartilage & growth plate development
- phosphorylated upon DNA damage, probably by ATM or ATR
Structure:
- belongs to the protein kinase superfamily, Tyr protein kinase family, ROR subfamily
- contains 1 FZ (frizzled) domain
- contains 1 Ig-like C2-type domain (immunoglobulin-like)
- contains 1 kringle domain
- contains 1 protein kinase domain
Compartment: membrane
Expression:
- expressed at high levels during early embryonic development
- expression levels drop strongly around day 16 & there are only very low levels in adult tissues
Pathology:
- defects in ROR2 are a cause of:
a) brachydactyly type B1
b) recessive Robinow syndrome
General
glycoprotein
tyrosine kinase receptor (RTK)
Properties
SIZE: entity length = 943 aa
MW = 105 kD
COMPARTMENT: cellular membrane
STATE: active state
MOTIF: signal sequence {1-33}
immunoglobulin superfamily domain {55-145}
MOTIF: N-glycosylation site {N70}
cysteine residue {C83}
MODIFICATION: cysteine residue {C135}
cysteine residue {C135}
MODIFICATION: cysteine residue {C83}
frizzled domain {169-303}
MOTIF: cysteine residue {C174}
MODIFICATION: cysteine residue {C239}
cysteine residue {C182}
MODIFICATION: cysteine residue {C232}
N-glycosylation site {N188}
cysteine residue {C223}
MODIFICATION: cysteine residue {C264}
cysteine residue {C232}
MODIFICATION: cysteine residue {C182}
cysteine residue {C239}
MODIFICATION: cysteine residue {C174}
cysteine residue {C252}
MODIFICATION: cysteine residue {C300}
cysteine residue {C256}
MODIFICATION: cysteine residue {C286}
cysteine residue {C264}
MODIFICATION: cysteine residue {C223}
cysteine residue {C286}
MODIFICATION: cysteine residue {C256}
cysteine residue {C300}
MODIFICATION: cysteine residue {C252}
Kringle {316-394}
MOTIF: cysteine residue {C316}
MODIFICATION: cysteine residue {C394}
N-glycosylation site {N318}
cysteine residue {C337}
MODIFICATION: cysteine residue {C377}
cysteine residue {C365}
MODIFICATION: cysteine residue {C389}
cysteine residue {C377}
MODIFICATION: cysteine residue {C337}
cysteine residue {C389}
MODIFICATION: cysteine residue {C365}
cysteine residue {C394}
MODIFICATION: cysteine residue {C316}
transmembrane domain {404-424}
Ser phosphorylation site {S449}
kinase domain
SITE: 473-746
MOTIF: ATP-binding site
NAME: ATP-binding site
SITE: 479-487
ATP-binding site
NAME: ATP-binding site
SITE: 507-507
aspartate residue {D615}
Tyr phosphorylation site {Y646}
threonine-rich region {753-782}
MOTIF: threonine residue (SEVERAL)
proline-rich region
SITE: 784-857
MOTIF: proline residue (SEVERAL)
threonine-rich region {859-882}
MOTIF: threonine residue (SEVERAL)
Database Correlations
OMIM correlations
MORBIDMAP 602337
UniProt Q01974
PFAM correlations
Kegg hsa:4920
ENZYME 2.7.10.1
References
- UniProt :accession Q01974
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=ROR2