R-Spondin Family, Member 4

Alternative Names

  • RSPO4
  • CRISTIN4
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OMIM Number

610573

NCBI Gene ID

343637

Uniprot ID

Q2I0M5

Length

43,860 bases

No. of Exons

5

No. of isoforms

2

Protein Name

R-Spondin-4

Molecular Mass

26171 Da

Amino Acid Count

234

Genomic Location

chr20:958,452-1,002,311

Gene Map Locus
20p13

Description

The encoded protein is a member of the R-spondin family of secreted proteins that play a major role in activating the Wnt/beta-catenin signaling pathway by acting as a ligand for LGR4-6 receptors.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001029871.4:c.164_165delinsAALebanonNC_000020.11:g.968053_968054delinsTTPathogenicNail Disorder, Nonsyndromic Congenital, 4NG_013043.1:g.39211_39212delinsAA; NM_001029871.4:c.164_165delinsAA; NP_001025042.2:p.Phe55Ter
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