• Gene id: 84870

Gene Summary

• Gene Symbol: RSPO3   Gene   UCSC   Ensembl
• Aliases: CRISTIN1, PWTSR, THSD2
• Gene name: R-spondin 3
• Alternate names: R-spondin-3, R-spondin 3 homolog, protein with TSP type-1 repeat, roof plate-specific spondin-3, thrombospondin type-1 domain-containing protein 2, thrombospondin, type I, domain containing 2,
• Gene location: 6q22.33 (127118670: 127199480)     Exons: 7     NC_000006.12
• Gene summary(Entrez): This gene belongs to the R-spondin family. The encoded protein plays a role in the regulation of Wnt (wingless-type MMTV integration site family)/beta-catenin and Wnt/planar cell polarity (PCP) signaling pathways, which are involved in development, cell g
• OMIM: 601526

Protein Summary

• Protein general information: Q9BXY4  
  • Name: R spondin 3 (Protein with TSP type 1 repeat) (hPWTSR) (Roof plate specific spondin 3) (hRspo3) (Thrombospondin type 1 domain containing protein 2)
  • Length: 272  
  • Mass: 30929
  • Tissue specificity: Ubiquitously expressed. Expressed at higher level in placenta, small intestine, fetal thymus and lymph node (PubMed
• Sequence:

  MHLRLISWLFIILNFMEYIGSQNASRGRRQRRMHPNVSQGCQGGCATCSDYNGCLSCKPRLFFALERIGMKQIGV
  CLSSCPSGYYGTRYPDINKCTKCKADCDTCFNKNFCTKCKSGFYLHLGKCLDNCPEGLEANNHTMECVSIVHCEV
  SEWNPWSPCTKKGKTCGFKRGTETRVREIIQHPSAKGNLCPPTNETRKCTVQRKKCQKGERGKKGRERKRKKPNK
  GESKEAIPDSKSLESSKEIPEQRENKQQQKKRKVQDKQKSVSVSTVH

• Structural information:
  • Protein Domains: (147..20-)
    (/note="TSP-type-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00210"-)
  • Interpro: IPR006212  IPR009030  IPR042994  IPR000884  IPR036383  
  • Prosite: PS50092
  • CDD: cd00064
  • STRING: ENSP00000349131
• Other Databases: GeneCards:  RSPO3  Malacards:  RSPO3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	NAS	cellular component
GO:0030177	positive regulation of Wnt signaling pathway	NAS	biological process
GO:2000096	positive regulation of Wnt signaling pathway, planar cell polarity pathway	TAS	biological process
GO:0030177	positive regulation of Wnt signaling pathway	IDA	biological process
GO:2000052	positive regulation of non-canonical Wnt signaling pathway	ISS	biological process
GO:0002040	sprouting angiogenesis	ISS	biological process
GO:0001974	blood vessel remodeling	ISS	biological process
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0030177	positive regulation of Wnt signaling pathway	IEA	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0008201	heparin binding	IEA	molecular function
GO:0030111	regulation of Wnt signaling pathway	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:2000052	positive regulation of non-canonical Wnt signaling pathway	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0002040	sprouting angiogenesis	IEA	biological process
GO:0001974	blood vessel remodeling	IEA	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0090263	positive regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0060670	branching involved in labyrinthine layer morphogenesis	IEA	biological process
GO:0008201	heparin binding	IEA	molecular function
GO:0005109	frizzled binding	IEA	molecular function
GO:0005102	signaling receptor binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	NAS	cellular component
GO:0030177	positive regulation of Wnt signaling pathway	NAS	biological process
GO:2000096	positive regulation of Wnt signaling pathway, planar cell polarity pathway	TAS	biological process
GO:0030177	positive regulation of Wnt signaling pathway	IDA	biological process
GO:2000052	positive regulation of non-canonical Wnt signaling pathway	ISS	biological process
GO:0002040	sprouting angiogenesis	ISS	biological process
GO:0001974	blood vessel remodeling	ISS	biological process
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0030177	positive regulation of Wnt signaling pathway	IEA	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0008201	heparin binding	IEA	molecular function
GO:0030111	regulation of Wnt signaling pathway	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:2000052	positive regulation of non-canonical Wnt signaling pathway	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0002040	sprouting angiogenesis	IEA	biological process
GO:0001974	blood vessel remodeling	IEA	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0090263	positive regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0060670	branching involved in labyrinthine layer morphogenesis	IEA	biological process
GO:0008201	heparin binding	IEA	molecular function
GO:0005109	frizzled binding	IEA	molecular function
GO:0005102	signaling receptor binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04310	Wnt signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R