ROR2_HUMAN » Tyrosine-protein kinase transmembrane receptor ROR2

ROR2_HUMAN » Tyrosine-protein kinase transmembrane receptor ROR2
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Topology in Plasma membrane
Topologyextracellular side
cytoplasmic side
ROR2_HUMAN » Tyrosine-protein kinase transmembrane receptor ROR2 » Neurotrophic tyrosine kinase, receptor-related 2;
Hydrophobic Thickness 41.2 ± 5.4 Å
Tilt Angle 8 ± 7°
ΔGtransfer -28.0 kcal/mol
ΔGfold -18.2 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC, HMDB
Topology Out
TM Segments 400-428 (398-432)
Pathways none
PDB 4gt4 (452-753), 3zzw (A/B=464-751)
OPM none
Complexes

ROR2:ROR2_HUMAN

Interactions

ROR2, Complex: Homodimer of tyrosine-protein kinase transmembrane receptor ROR2, PDBID: 3ZZW

Domains

AA: 62-152, PDBID: 2EDJ, Subunit A, Seq Identity:33%, Immunoglobulin I-set domain

AA: 174-294, PDBID: 1IJX, Subunit A, Seq Identity:21%, Fz domain

AA: 316-394, PDBID: 1BHT, Subunit B, Seq Identity:49%, Kringle domain

AA: 473-746, PDBID: 3ZZW, Subunit A, Seq Identity:100%, Protein tyrosine kinase

UniProt annotation for ROR2_HUMAN » Tyrosine-protein kinase transmembrane receptor ROR2
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. Phosphorylates YWHAB, leading to induction of osteogenesis and bone formation.

CATALYTIC ACTIVITY: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.

SUBUNIT: Homodimer; promotes osteogenesis. Binds YWHAB. Interacts with WTIP (By similarity).

DEVELOPMENTAL STAGE: Expressed at high levels during early embryonic development. The expression levels drop strongly around day 16 and there are only very low levels in adult tissues.

DISEASE: Brachydactyly B1 (BDB1) OMIM: 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 mutations affecting the gene represented in this entry.

DISEASE: Robinow syndrome autosomal recessive (RRS) OMIM: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

UniProt features for ROR2_HUMAN » Tyrosine-protein kinase transmembrane receptor ROR2
SIGNAL 1 33 Potential.
CHAIN 34 943 Tyrosine-protein kinase transmembrane receptor ROR2.
DOMAIN 55 145 Ig-like C2-type.
DOMAIN 169 303 FZ.
DOMAIN 316 394 Kringle.
DOMAIN 473 746 Protein kinase.
ACT_SITE 615 615 Proton acceptor (By similarity).
DISULFID 83 135 By similarity.
DISULFID 174 239 By similarity.
DISULFID 182 232 By similarity.
DISULFID 223 264 By similarity.
DISULFID 252 300 By similarity.
DISULFID 256 286 By similarity.
DISULFID 316 394 By similarity.
DISULFID 337 377 By similarity.
DISULFID 365 389 By similarity.
Amino Acid Sequence for ROR2_HUMAN » Tyrosine-protein kinase transmembrane receptor ROR2
MARGSALPRR PLLCIPAVWA AAALLLSVSR TSGEVEVLDP NDPLGPLDGQ DGPIPTLKGY FLNFLEPVNN ITIVQGQTAI LHCKVAGNPP PNVRWLKNDA PVVQEPRRII IRKTEYGSRL RIQDLDTTDT GYYQCVATNG MKTITATGVL FVRLGPTHSP NHNFQDDYHE DGFCQPYRGI ACARFIGNRT IYVDSLQMQG EIENRITAAF TMIGTSTHLS DQCSQFAIPS FCHFVFPLCD ARSRTPKPRE LCRDECEVLE SDLCRQEYTI ARSNPLILMR LQLPKCEALP MPESPDAANC MRIGIPAERL GRYHQCYNGS GMDYRGTAST TKSGHQCQPW ALQHPHSHHL SSTDFPELGG GHAYCRNPGG QMEGPWCFTQ NKNVRMELCD VPSCSPRDSS KMGILYILVP SIAIPLVIAC LFFLVCMCRN KQKASASTPQ RRQLMASPSQ DMEMPLINQH KQAKLKEISL SAVRFMEELG EDRFGKVYKG HLFGPAPGEQ TQAVAIKTLK DKAEGPLREE FRHEAMLRAR LQHPNVVCLL GVVTKDQPLS MIFSYCSHGD LHEFLVMRSP HSDVGSTDDD RTVKSALEPP DFVHLVAQIA AGMEYLSSHH VVHKDLATRN VLVYDKLNVK ISDLGLFREV YAADYYKLLG NSLLPIRWMA PEAIMYGKFS IDSDIWSYGV VLWEVFSYGL QPYCGYSNQD VVEMIRNRQV LPCPDDCPAW VYALMIECWN EFPSRRPRFK DIHSRLRAWG NLSNYNSSAQ TSGASNTTQT SSLSTSPVSN VSNARYVGPK QKAPPFPQPQ FIPMKGQIRP MVPPPQLYVP VNGYQPVPAY GAYLPNFYPV QIPMQMAPQQ VPPQMVPKPS SHHSGSGSTS TGYVTTAPSN TSMADRAALL SEGADDTQNA PEDGAQSTVQ EAEEEEEGSV PETELLGDCD TLQVDEAQVQ LEA