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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes Human disease related genes Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
9
Cytoband
q22.31
Chromosome location (bp)
91563091 - 91950228
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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 1. 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 2....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
The protein encoded by this gene is a receptor protein tyrosine kinase 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. Mutations in this gene can cause brachydactyly type B, a skeletal disorder characterized by hypoplasia/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. [provided by RefSeq, Jul 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Show all
GO:0000166[nucleotide binding] GO:0004672[protein kinase activity] GO:0004713[protein tyrosine kinase activity] GO:0004714[transmembrane receptor protein tyrosine kinase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005737[cytoplasm] GO:0005874[microtubule] GO:0005886[plasma membrane] GO:0006468[protein phosphorylation] GO:0007165[signal transduction] GO:0007169[transmembrane receptor protein tyrosine kinase signaling pathway] GO:0009986[cell surface] GO:0010976[positive regulation of neuron projection development] GO:0014002[astrocyte development] GO:0014068[positive regulation of phosphatidylinositol 3-kinase signaling] GO:0016020[membrane] GO:0016055[Wnt signaling pathway] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0017147[Wnt-protein binding] GO:0018108[peptidyl-tyrosine phosphorylation] GO:0030282[bone mineralization] GO:0030335[positive regulation of cell migration] GO:0030425[dendrite] GO:0030539[male genitalia development] GO:0030669[clathrin-coated endocytic vesicle membrane] GO:0031435[mitogen-activated protein kinase kinase kinase binding] GO:0033674[positive regulation of kinase activity] GO:0043025[neuronal cell body] GO:0043235[receptor complex] GO:0043507[positive regulation of JUN kinase activity] GO:0045651[positive regulation of macrophage differentiation] GO:0046872[metal ion binding] GO:0050804[modulation of chemical synaptic transmission] GO:0051968[positive regulation of synaptic transmission, glutamatergic] GO:0060071[Wnt signaling pathway, planar cell polarity pathway] GO:0098794[postsynapse] GO:0098978[glutamatergic synapse] GO:0099175[regulation of postsynapse organization] GO:0150045[regulation of synaptic signaling by nitric oxide] GO:1900020[positive regulation of protein kinase C activity] GO:1904929[coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway] GO:1905517[macrophage migration]
The Human Protein Atlas project is funded
