ROR2
Encyclopedia
Tyrosine-protein kinase transmembrane receptor ROR2 also known as neurotrophic tyrosine kinase, receptor-related 2, is a protein
that in humans is encoded by the ROR2 gene
located on position 9 of the long arm of chromosome 9
. This protein is responsible for aspects of bone
and cartilage
growth. It is involved in Robinow syndrome
and autosomal dominant brachydactyly type B. ROR2 is a member of the receptor tyrosine kinase-like orphan receptor
(ROR) family.
and type I transmembrane protein
that belongs to the ROR subfamily of cell surface receptors. The protein may be involved in the early formation of the chondrocytes and may be required for cartilage and growth plate development.
/aplasia
of distal phalanges and nails. In addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome
, which is characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly
, and a dysmorphic facial appearance.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the ROR2 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
located on position 9 of the long arm of chromosome 9
Chromosome 9 (human)
125px|rightChromosome 9 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome, as they normally do with all chromosomes...
. This protein is responsible for aspects of bone
Bone
Bones are rigid organs that constitute part of the endoskeleton of vertebrates. They support, and protect the various organs of the body, produce red and white blood cells and store minerals. Bone tissue is a type of dense connective tissue...
and cartilage
Cartilage
Cartilage is a flexible connective tissue found in many areas in the bodies of humans and other animals, including the joints between bones, the rib cage, the ear, the nose, the elbow, the knee, the ankle, the bronchial tubes and the intervertebral discs...
growth. It is involved in Robinow syndrome
Robinow syndrome
Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral segmentation. The disorder was first described in 1969 by human geneticist Meinhard Robinow, along with physicians Frederic N....
and autosomal dominant brachydactyly type B. ROR2 is a member of the receptor tyrosine kinase-like orphan receptor
Receptor tyrosine kinase-like orphan receptor
In the field of molecular biology, receptor tyrosine kinase-like orphan receptors are a family of tyrosine kinase receptors that are important in regulating skeletal and neuronal development, cell migration and cell polarity. ROR proteins can can modulate Wnt signaling by sequestering Wnt ligands....
(ROR) family.
Function
The protein encoded by this gene is a receptor tyrosine kinaseReceptor tyrosine kinase
Receptor tyrosine kinases s are the high-affinity cell surface receptors for many polypeptide growth factors, cytokines, and hormones. Of the 90 unique tyrosine kinase genes identified in the human genome, 58 encode receptor tyrosine kinase proteins....
and type I transmembrane protein
Transmembrane protein
A transmembrane protein is a protein that goes from one side of a membrane through to the other side of the membrane. Many TPs function as gateways or "loading docks" to deny or permit the transport of specific substances across the biological membrane, to get into the cell, or out of the cell as...
that belongs to the ROR subfamily of cell surface receptors. The protein may be involved in the early formation of the chondrocytes and may be required for cartilage and growth plate development.
Clinical significance
Mutations in this gene can cause brachydactyly type B, a skeletal disorder characterized by hypoplasiaHypoplasia
Hypoplasia is underdevelopment or incomplete development of a tissue or organ. Although the term is not always used precisely, it properly refers to an inadequate or below-normal number of cells. Hypoplasia is similar to aplasia, but less severe. It is technically not the opposite of hyperplasia...
/aplasia
Aplasia
Aplasia is defined in general as "defective development or congenital absence of an organ or tissue." In the field of hematology, the term refers to "incomplete, retarded, or defective development, or cessation of the usual regenerative process."-Examples:*Acquired pure red cell aplasia*Aplasia...
of distal phalanges and nails. In addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome
Robinow syndrome
Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral segmentation. The disorder was first described in 1969 by human geneticist Meinhard Robinow, along with physicians Frederic N....
, which is characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly
Brachydactyly
Brachydactyly , is a medical term which literally means "shortness of the fingers and toes" . The shortness is relative to the length of other long bones and other parts of the body. Brachydactyly is an inherited, usually dominant trait...
, and a dysmorphic facial appearance.