R-Spondin 3

Alternative Names

  • RSPO3
  • R-Spondin Family, Member 3
  • PWTSR
  • Cristin1
Back to search Result
OMIM Number

610574

NCBI Gene ID

84870

Uniprot ID

Q9BXY4

Length

80,811 bases

No. of Exons

6

No. of isoforms

2

Protein Name

R-spondin-3

Molecular Mass

30929 Da

Amino Acid Count

272

Genomic Location

chr6:127,118,670-127,199,480

Gene Map Locus
6q22.33

Description

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 growth and disease pathogenesis. Genome-wide association studies suggest a correlation of this gene with bone mineral density and risk of fracture. This gene may be involved in tumor development. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_032784.4:c.437-953T>CUnited Arab EmiratesNC_000006.12:g.127154288T>CNM_032784.4:c.437-953T>C4382293
NM_032784.4:c.634+134=United Arab EmiratesNC_000006.12:g.127155572=NM_032784.4:c.634+134=2489629
NM_032784.4:c.634+4571A>CUnited Arab EmiratesNC_000006.12:g.127160009A>CNM_032784.4:c.634+4571A>C4644087
NM_032784.5:c.567G>AUnited Arab EmiratesNC_000006.12:g.127155371G>ANM_032784.5:c.567G>A; NP_116173.2:p.Leu189=1892172
© CAGS 2022. All rights reserved.