Entity Details

Primary name RSPO2
Entity type gene
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Details

PrimaryID340419
RefseqGeneNG_065170
SymbolRSPO2
NameR-spondin 2
Chromosome8
Location8q23.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2003-03-28
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsRSPO2_HUMAN

GO terms

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GOName
GO:0001649 osteoblast differentiation
GO:0005102 signaling receptor binding
GO:0005576 extracellular region
GO:0008201 heparin binding
GO:0009986 cell surface
GO:0016055 Wnt signaling pathway
GO:0030177 positive regulation of Wnt signaling pathway
GO:0030282 bone mineralization
GO:0035115 embryonic forelimb morphogenesis
GO:0035116 embryonic hindlimb morphogenesis
GO:0042489 negative regulation of odontogenesis of dentin-containing tooth
GO:0060173 limb development
GO:0060437 lung growth
GO:0060441 epithelial tube branching involved in lung morphogenesis
GO:0060535 trachea cartilage morphogenesis
GO:0071542 dopaminergic neuron differentiation
GO:0090263 positive regulation of canonical Wnt signaling pathway

Diseases

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Disease IDSourceNameDescription
618022 OMIMHumerofemoral hypoplasia with radiotibial ray deficiency (HHRRD)A severe disease characterized by reduction of all four limbs as well as hypoplasia of the upper limb girdle and pelvis. Rudimentary finger- or toe-like appendages may be present. HHRRD transmission pattern is consistent with autosomal recessive inheritance. The disease is caused by variants affecting the gene represented in this entry.
618021 OMIMTetraamelia syndrome 2 (TETAMS2)A form of tetraamelia, a rare disease characterized by rudimentary appendages or complete absence of all four limbs, and other anomalies such as craniofacial, nervous system, pulmonary, skeletal and urogenital defects. TETAMS2 patients manifest limb deformities, bilateral agenesis of the lungs, abnormalities of the pulmonary vasculature, labioscrotal fold aplasia, and dysmorphic features including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, and microretrognathia. TETAMS2 transmission pattern is consistent with autosomal recessive inheritance. The disease is caused by variants affecting the gene represented in this entry.