R-spondin 2

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)
End	108,083,642 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	43,034,222 bp
RNA expression pattern
	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
	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
	340419
	239405
	ENSG00000147655
	ENSMUSG00000051920
	Q6UXX9
	Q8BFU0
	NM_001282863; NM_178565; NM_001317942
	NM_172815; NM_001357956; NM_001357957
	NP_001269792; NP_001304871; NP_848660
	NP_766403; NP_001344885; NP_001344886
	Wikidata
View/Edit Human	View/Edit Mouse

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.

R-spondin 2 synergizes with canonical WNT to activate beta-catenin. RSPO2 has been proposed to regulate craniofacial patterning and morphogenesis within pharyngeal arch 1 through ectoderm-mesenchyme signaling via the endothelin-Dlx5/6 pathway.

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

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.