RSPO2
entrez
340419
canonical
uniprot
Q6UXX9
canonical
ensembl
ENSG00000147655
resolver
ensp
ENSP00000276659
resolver
ensp
ENSP00000427937
resolver
ensp
ENSP00000428940
resolver
genesymbol
RSPO2
resolver
hgnc
HGNC:28583
resolver
uniprot
B3KVP0
resolver
uniprot
B3KVP3
resolver
uniprot
Q4G0U4
resolver
uniprot
Q8N6X6
resolver
uniprot_entry
B3KVP3_HUMAN
resolver
uniprot_entry
RSPO2_HUMAN
resolver
uniprot_sec
B3KVP0
resolver
uniprot_sec
Q4G0U4
resolver
uniprot_sec
Q8N6X6
resolver
amino_acid_sequence
MQFRLFSFALIILNCMDYSHCQGNRWRRSKRASYVSNPICKGCLSCSKDNGCSRCQQKLFFFLRREGMRQYGECLHSCPSGYYGHRAPDMNRCARCRIENCDSCFSKDFCTKCKVGFYLHRGRCFDECPDGFAPLEETMECVEGCEVGHWSEWGTCSRNNRTCGFKWGLETRTRQIVKKPVKDTILCPTIAESRRCKMTMRHCPGGKRTPKAKEKRNKKKKRKLIERAQEQHSVFLATDRANQ
uniprot
proteins
disease_involvement
DISEASE: Tetraamelia syndrome 2 (TETAMS2) [MIM:618021]: 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. {ECO:0000269|PubMed:29769720}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Humerofemoral hypoplasia with radiotibial ray deficiency (HHRRD) [MIM:618022]: 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. {ECO:0000269|PubMed:29769720}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signaling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway (PubMed:21727895, PubMed:21909076, PubMed:22615920). During embryonic development, plays a crucial role in limb specification, amplifying the Wnt signaling pathway independently of LGR4-6 receptors, possibly by acting as a direct antagonistic ligand to RNF43 and ZNRF3, hence governing the number of limbs an embryo should form (PubMed:29769720). {ECO:0000269|PubMed:21727895, ECO:0000269|PubMed:21909076, ECO:0000269|PubMed:22615920, ECO:0000269|PubMed:29769720}.
uniprot
proteins
mass_dalton
28315
uniprot
proteins
mutagenesis
MUTAGEN 105; /note="F->A: Loss of LGR5-binding, no effect on interaction with RNF43 and ZNRF3, no effect on WNT3A signaling; when associated with A-109."; /evidence="ECO:0000269|PubMed:29769720"; MUTAGEN 109; /note="F->A: Loss of LGR5-binding, no effect on interaction with RNF43 and ZNRF3, no effect on WNT3A signaling; when associated with A-105."; /evidence="ECO:0000269|PubMed:29769720
uniprot
proteins
protein_family
R-spondin family
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
21727895
uniprot
proteins
pubmed
21909076
uniprot
proteins
pubmed
22615920
uniprot
proteins
pubmed
29769720
uniprot
proteins
sequence_length
243
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:Q8BFU0}.
uniprot
proteins