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RSPO3 R-spondin 3 [ Homo sapiens (human) ]

Gene ID: 84870, updated on 4-Dec-2023


Official Symbol
RSPO3provided by HGNC
Official Full Name
R-spondin 3provided by HGNC
Primary source
See related
Ensembl:ENSG00000146374 MIM:610574; AllianceGenome:HGNC:20866
Gene type
protein coding
RefSeq status
Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
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. [provided by RefSeq, Jul 2013]
Broad expression in endometrium (RPKM 18.7), placenta (RPKM 8.3) and 14 other tissues See more
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Genomic context

See RSPO3 in Genome Data Viewer
Exon count:
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (127118671..127199481)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (128307592..128388425)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (127439816..127520626)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377992 Neighboring gene uncharacterized LOC105377993 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25037 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25038 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17525 Neighboring gene uncharacterized LOC105377989 Neighboring gene uncharacterized LOC105377991 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:127297370-127297940 Neighboring gene uncharacterized LOC124901398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17526 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17527 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25039 Neighboring gene ring finger protein 146

Genomic regions, transcripts, and products


  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018


GeneRIFs: Gene References Into Functions

What's a GeneRIF?


EBI GWAS Catalog

Common variants at 6q22 and 17q21 are associated with intracranial volume.
EBI GWAS Catalog
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog
Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.
EBI GWAS Catalog
Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.
EBI GWAS Catalog
Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.
EBI GWAS Catalog
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
EBI GWAS Catalog
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
EBI GWAS Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
EBI GWAS Catalog
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
EBI GWAS Catalog
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
EBI GWAS Catalog
Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.
EBI GWAS Catalog
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
EBI GWAS Catalog

Pathways from PubChem


Products Interactant Other Gene Complex Source Pubs Description

General gene information


Clone Names

  • FLJ14440

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables frizzled binding IEA
Inferred from Electronic Annotation
more info
enables heparin binding IEA
Inferred from Electronic Annotation
more info
enables signaling receptor binding IPI
Inferred from Physical Interaction
more info
Component Evidence Code Pubs
located_in extracellular region NAS
Non-traceable Author Statement
more info
located_in extracellular region TAS
Traceable Author Statement
more info

General protein information

Preferred Names
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

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_032784.5NP_116173.2  R-spondin-3 precursor

    See identical proteins and their annotated locations for NP_116173.2

    Status: REVIEWED

    Source sequence(s)
    AA568446, AF251057, AI095468, AL031776, AL590733
    Consensus CDS
    B2RC27, Q5VTV4, Q96K87, Q9BXY4
    ENSP00000349131.4, ENST00000356698.9
    Conserved Domains (2) summary
    TSP1; Thrombospondin type 1 repeats
    Furin-like_2; Furin-like repeat, cysteine-rich

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly


  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011378.1XP_016866867.1  R-spondin-3 isoform X1

Alternate T2T-CHM13v2.0


  1. NC_060930.1 Alternate T2T-CHM13v2.0

    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054356597.1XP_054212572.1  R-spondin-3 isoform X1