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

Gene ID: 84870, updated on 1-Jun-2020

Summary

Official Symbol
RSPO3provided by HGNC
Official Full Name
R-spondin 3provided by HGNC
Primary source
HGNC:HGNC:20866
See related
Ensembl:ENSG00000146374 MIM:610574
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PWTSR; THSD2; CRISTIN1
Summary
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]
Expression
Broad expression in endometrium (RPKM 18.7), placenta (RPKM 8.3) and 14 other tissues See more
Orthologs

Genomic context

See RSPO3 in Genome Data Viewer
Location:
6q22.33
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (127118671..127199481)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (127439844..127520626)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377991 Neighboring gene uncharacterized LOC105377989 Neighboring gene uncharacterized LOC112267972 Neighboring gene ring finger protein 146 Neighboring gene ethylmalonyl-CoA decarboxylase 1 Neighboring gene RNA, 5S ribosomal pseudogene 217

Genomic regions, transcripts, and products

Expression

  • 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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14440

Gene Ontology Provided by GOA

Function Evidence Code Pubs
frizzled binding IEA
Inferred from Electronic Annotation
more info
 
heparin binding IEA
Inferred from Electronic Annotation
more info
 
signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
blood vessel remodeling ISS
Inferred from Sequence or Structural Similarity
more info
 
branching involved in labyrinthine layer morphogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of Wnt signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of Wnt signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of Wnt signaling pathway, planar cell polarity pathway TAS
Traceable Author Statement
more info
PubMed 
positive regulation of canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of non-canonical Wnt signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of Wnt signaling pathway TAS
Traceable Author Statement
more info
 
sprouting angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
R-spondin-3
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)

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
    CCDS5135.1
    UniProtKB/Swiss-Prot
    Q9BXY4
    Related
    ENSP00000349131.4, ENST00000356698.9
    Conserved Domains (2) summary
    smart00209
    Location:150202
    TSP1; Thrombospondin type 1 repeats
    pfam15913
    Location:42144
    Furin-like_2; Furin-like repeat, cysteine-rich

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    127118671..127199481
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_017011379.1XP_016866868.1  R-spondin-3 isoform X2

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