Gene: RSPO2

Basic information

Tag Content
Uniprot ID Q6UXX9; B3KVP0; Q4G0U4; Q8N6X6;
Entrez ID 340419
Genbank protein ID AAQ88533.1; AAH36554.1; AAH27938.1; EAW91916.1; BAG53852.1;
Genbank nucleotide ID NM_001317942.1; NM_001282863.1; NM_178565.4;
Ensembl protein ID ENSP00000276659; ENSP00000428940; ENSP00000427937;
Ensembl nucleotide ID ENSG00000147655
Gene name R-spondin-2
Gene symbol RSPO2
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description 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:21909076, PubMed:21727895, 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).
Sequence
MQFRLFSFAL IILNCMDYSH CQGNRWRRSK RASYVSNPIC KGCLSCSKDN GCSRCQQKLF 60
FFLRREGMRQ YGECLHSCPS GYYGHRAPDM NRCARCRIEN CDSCFSKDFC TKCKVGFYLH 120
RGRCFDECPD GFAPLEETME CVEGCEVGHW SEWGTCSRNN RTCGFKWGLE TRTRQIVKKP 180
VKDTILCPTI AESRRCKMTM RHCPGGKRTP KAKEKRNKKK KRKLIERAQE QHSVFLATDR 240
ANQ 243

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologRSPO2482004F1P932Canis lupus familiarisPredictionMore>>
1:1 orthologRSPO2100860771A0A452FDY5Capra hircusPredictionMore>>
1:1 orthologRSPO2100056523A8C9U1Equus caballusPredictionMore>>
1:1 orthologRSPO2340419Q6UXX9Homo sapiensPredictionMore>>
1:1 orthologRspo2239405Q8BFU0CPO,CLPE14.5, E15.5Mus musculusPublicationMore>>
1:1 orthologRSPO2464335A0A2I3RH49Pan troglodytesPredictionMore>>
1:1 orthologRSPO2A0A5G2RDB4Sus scrofaPredictionMore>>
1:1 orthologRspo2500863I7GAZ6Rattus norvegicusPredictionMore>>
1:1 orthologrspo2566054F1Q5C9Danio rerioPredictionMore>>

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005102 signaling receptor bindingIPI
GO:0005515 protein bindingIPI
GO:0008201 heparin bindingIEA

GO:Biological Process

GO ID GO Term Evidence
GO:0001649 osteoblast differentiationIEA
GO:0016055 Wnt signaling pathwayIEA
GO:0030177 positive regulation of Wnt signaling pathwayNAS
GO:0030177 positive regulation of Wnt signaling pathwayIDA
GO:0030282 bone mineralizationIEA
GO:0035115 embryonic forelimb morphogenesisIEA
GO:0035116 embryonic hindlimb morphogenesisIEA
GO:0042489 negative regulation of odontogenesis of dentin-containing toothIEA
GO:0060173 limb developmentIMP
GO:0060437 lung growthIEA
GO:0060441 epithelial tube branching involved in lung morphogenesisIEA
GO:0060535 trachea cartilage morphogenesisIEA
GO:0071542 dopaminergic neuron differentiationIEA
GO:0090263 positive regulation of canonical Wnt signaling pathwayIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005576 extracellular regionNAS
GO:0005576 extracellular regionTAS
GO:0009986 cell surfaceIEA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-162582 Signal TransductionTAS
R-HSA-195721 Signaling by WNTTAS
R-HSA-201681 TCF dependent signaling in response to WNTTAS
R-HSA-4641263 Regulation of FZD by ubiquitinationTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0025 Alternative splicing
KW-0217 Developmental protein
KW-0225 Disease mutation
KW-1015 Disulfide bond
KW-0325 Glycoprotein
KW-0358 Heparin-binding
KW-0621 Polymorphism
KW-1185 Reference proteome
KW-0964 Secreted
KW-0716 Sensory transduction
KW-0732 Signal
KW-0879 Wnt signaling pathway

Interpro

InterPro ID InterPro Term
IPR006212 Furin_repeat
IPR009030 Growth_fac_rcpt_cys_sf
IPR042993 RSPO2
IPR000884 TSP1_rpt
IPR036383 TSP1_rpt_sf

PROSITE

PROSITE ID PROSITE Term
PS50092 TSP1

Pfam

Pfam ID Pfam Term
PF15913 Furin-like_2

Protein-protein interaction

Protein-miRNA interaction