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

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; AllianceGenome:HGNC:20866
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: mouse all
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Genomic context

Location:: 6q22.33

Exon count:: 6

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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Upregulation of RSPO3 via targeted promoter DNA demethylation inhibits the progression of cholangiocarcinoma.
Title: Upregulation of RSPO3 via targeted promoter DNA demethylation inhibits the progression of cholangiocarcinoma.
Amniotic fluid stem cell attenuated necrotizing enterocolitis progression by promoting Rspo3/AMPKalpha axis.
Title: Amniotic fluid stem cell attenuated necrotizing enterocolitis progression by promoting Rspo3/AMPKα axis.
Investigation of cell signalings and therapeutic targets in PTPRK-RSPO3 fusion-positive colorectal cancer.
Title: Investigation of cell signalings and therapeutic targets in PTPRK-RSPO3 fusion-positive colorectal cancer.
RSPO3 is a novel contraction-inducible factor identified in an ""in vitro exercise model"" using primary human myotubes.
Title: RSPO3 is a novel contraction-inducible factor identified in an "in vitro exercise model" using primary human myotubes.
RSPO3 is important for trabecular bone and fracture risk in mice and humans.
Title: RSPO3 is important for trabecular bone and fracture risk in mice and humans.
Elevated levels of the secreted wingless agonist R-spondin 3 in preeclamptic pregnancies.
Title: Elevated levels of the secreted wingless agonist R-spondin 3 in preeclamptic pregnancies.
R-spondins engage heparan sulfate proteoglycans to potentiate WNT signaling.
Title: R-spondins engage heparan sulfate proteoglycans to potentiate WNT signaling.
Targeting RSPO3-LGR4 Signaling for Leukemia Stem Cell Eradication in Acute Myeloid Leukemia.
Title: Targeting RSPO3-LGR4 Signaling for Leukemia Stem Cell Eradication in Acute Myeloid Leukemia.
R-Spondins 2 and 3 Are Overexpressed in a Subset of Human Colon and Breast Cancers.
Title: R-Spondins 2 and 3 Are Overexpressed in a Subset of Human Colon and Breast Cancers.
RSPO3 impacts body fat distribution and regulates adipose cell biology in vitro.
Title: RSPO3 impacts body fat distribution and regulates adipose cell biology in vitro.

Submit: New GeneRIF Correction See all GeneRIFs (33)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH124054 (e-PCR)
- UniSTS:135949

SHGC-57647 (e-PCR)
- UniSTS:66137

RH94253 (e-PCR)
- UniSTS:90016

SHGC-57345 (e-PCR)
- UniSTS:24792

THSD2__5255 (e-PCR)
- UniSTS:464606

SHGC-111164 (e-PCR)
- UniSTS:168188

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	PubMed

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

Component	Evidence Code	Pubs
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info

General protein information

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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)

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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.