R-spondin 2

R-spondin 2 also known as roof plate-specific spondin-2 is a secreted protein that in humans that is encoded by the RSPO2 gene.^[5]

RSPO2
Identifiers
Aliases	RSPO2, CRISTIN2, R-spondin 2, TETAMS2, HHRRD
External IDs	OMIM: 610575; MGI: 1922667; HomoloGene: 18235; GeneCards: RSPO2; OMA:RSPO2 - orthologs
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8q23.1 Start 107,899,316 bp[1] End 108,083,642 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15 B3.1|15 16.73 cM Start 42,884,190 bp[2] End 43,034,222 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte gastric mucosa prefrontal cortex Achilles tendon Brodmann area 9 right lung testicle right frontal lobe muscle layer of sigmoid colon cingulate gyrus Top expressed in primary oocyte secondary oocyte zygote stroma of bone marrow lumbar spinal ganglion facial motor nucleus iris vestibular sensory epithelium calvaria Jacobson's organ More reference expression data BioGPS n/a
Gene ontology Molecular function heparin binding signaling receptor binding protein binding frizzled binding Cellular component extracellular region cell surface extracellular space Biological process positive regulation of canonical Wnt signaling pathway positive regulation of Wnt signaling pathway bone mineralization lung growth dopaminergic neuron differentiation epithelial tube branching involved in lung morphogenesis Wnt signaling pathway embryonic forelimb morphogenesis negative regulation of odontogenesis of dentin-containing tooth osteoblast differentiation response to stimulus trachea cartilage morphogenesis embryonic hindlimb morphogenesis multicellular organism development limb development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 340419 239405 Ensembl ENSG00000147655 ENSMUSG00000051920 UniProt Q6UXX9 Q8BFU0 RefSeq (mRNA) NM_001282863 NM_178565 NM_001317942 NM_172815 NM_001357956 NM_001357957 RefSeq (protein) NP_001269792 NP_001304871 NP_848660 NP_766403 NP_001344885 NP_001344886 Location (UCSC) Chr 8: 107.9 – 108.08 Mb Chr 15: 42.88 – 43.03 Mb PubMed search [3] [4]
Wikidata
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R-spondin 2 synergizes with canonical WNT to activate beta-catenin.^[6][7] RSPO2 has been proposed to regulate craniofacial patterning and morphogenesis within pharyngeal arch 1 through ectoderm-mesenchyme signaling via the endothelin-Dlx5/6 pathway.^[8]

In dogs, a variant on the Rspo2 gene is associated moustache and eyebrow thickness.^[9]

In humans, recessive mutations in RSPO2 abrogate limb and lung development. Bruno Reversade and colleagues have reported in 2018 that loss of RSPO2 results in a syndrome of Tetra-amelia with lung agenesis. ^[10]