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FLASH GENE

Symbol

RSPO2

contributors: mct/npt/pgu - updated : 26-08-2019

HGNC name	R-spondin 2 homolog (Xenopus laevis)
HGNC id	28583

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in human colorectal cancers (CRCs) due to promoter hypermethylation

Susceptibility

to ossification of the posterior longitudinal ligament of the spine (OPLL)

Variant & Polymorphism SNP	SNP (rs374810) in the RSPO2 promoter causes deceased binding of C/EBPB, which leads to decreased RSPO2 expression, decreased Wnt-CTNNB1 signal, and eventually OPLL

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	CLP with mild facial skeletal defects in Rspo2(-/-) mice which also exhibited distal limb loss and lung hypoplasia, and died immediately after birth with respiratory failure; apparent reduction of Wnt/Ctnnb1 signaling activity at the branchial arch and the apical ectodermal ridge in Rspo2(-/-)mice
	in Rspo2(-/-) mouse, loss of Rspo2 results in an additional single row of outer hair cells and disruption of peripheral innervation pattern
	mice lacking a functional Rspo2 gene exhibit craniofacial abnormalities such as mandibular hypoplasia, maxillary and mandibular skeletal deformation, and cleft palate