InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ROR2

Summary

InnateDB Protein

IDBP-75754.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ROR2

Protein Name

receptor tyrosine kinase-like orphan receptor 2

Synonyms

BDB; BDB1; NTRKR2;

Species

Homo sapiens

Ensembl Protein

ENSP00000364860

InnateDB Gene

IDBG-75748 (ROR2)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:17717073}.

Subcellular Localization

Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.

Disease Associations

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 mutations affecting the gene represented in this entry.Robinow syndrome autosomal recessive (RRS) [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:0000269PubMed:10932186, ECO:0000269PubMed:10932187}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.

Experimentally validated
Total	9 [view]
Protein-Protein	9 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	7 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004672	protein kinase activity
GO:0004713	protein tyrosine kinase activity
GO:0004714	transmembrane receptor protein tyrosine kinase activity
GO:0005109	frizzled binding
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0016772	transferase activity, transferring phosphorus-containing groups
GO:0017147	Wnt-protein binding

Biological Process

GO:0001501	skeletal system development
GO:0001502	cartilage condensation
GO:0001756	somitogenesis
GO:0006468	protein phosphorylation
GO:0007165	signal transduction
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway
GO:0007223	Wnt receptor signaling pathway, calcium modulating pathway
GO:0007254	JNK cascade
GO:0007275	multicellular organismal development
GO:0008285	negative regulation of cell proliferation
GO:0018108	peptidyl-tyrosine phosphorylation
GO:0030154	cell differentiation
GO:0030335	positive regulation of cell migration
GO:0030538	embryonic genitalia morphogenesis
GO:0042472	inner ear morphogenesis
GO:0045893	positive regulation of transcription, DNA-templated
GO:0060071	Wnt signaling pathway, planar cell polarity pathway
GO:0090090	negative regulation of canonical Wnt signaling pathway
GO:0090263	positive regulation of canonical Wnt signaling pathway

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0030669	clathrin-coated endocytic vesicle membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000001 Kringle
IPR000719 Protein kinase domain
IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain
IPR002290 Serine/threonine/dual specificity protein kinase, catalytic domain
IPR003598 Immunoglobulin subtype 2
IPR003599 Immunoglobulin subtype
IPR007110 Immunoglobulin-like domain
IPR011009 Protein kinase-like domain
IPR013098 Immunoglobulin I-set
IPR013106 Immunoglobulin V-set domain
IPR013151 Immunoglobulin
IPR013806 Kringle-like fold
IPR016247 Tyrosine-protein kinase, receptor ROR
IPR020067 Frizzled domain
IPR020635 Tyrosine-protein kinase, catalytic domain

PFAM