RSPO2 R-spondin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RSPO2provided by HGNC
Official Full Name: R-spondin 2provided by HGNC
Primary source: HGNC:HGNC:28583
See related: Ensembl:ENSG00000147655 MIM:610575; AllianceGenome:HGNC:28583
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: HHRRD; TETAMS2; CRISTIN2
Summary: This gene encodes a member of the R-spondin family of proteins. These proteins are secreted ligands of leucine-rich repeat containing G protein-coupled receptors that enhance Wnt signaling through the inhibition of ubiquitin E3 ligases. A chromosomal translocation including this locus that results in the formation of a gene fusion has been identified in multiple human cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Expression: Biased expression in brain (RPKM 3.8), placenta (RPKM 3.6) and 11 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q23.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (107899316..108083620, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (109027818..109212087, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (108911544..109095848, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Suppression of Wnt/beta-Catenin Signaling Is Associated with Downregulation of Wnt1, PORCN, and Rspo2 in Alzheimer's Disease.
Title: Suppression of Wnt/β-Catenin Signaling Is Associated with Downregulation of Wnt1, PORCN, and Rspo2 in Alzheimer's Disease.
Identification of a regulatory pathway inhibiting adipogenesis via RSPO2.
Title: Identification of a regulatory pathway inhibiting adipogenesis via RSPO2.
RSPO2 and RANKL signal through LGR4 to regulate osteoclastic premetastatic niche formation and bone metastasis.
Title: RSPO2 and RANKL signal through LGR4 to regulate osteoclastic premetastatic niche formation and bone metastasis.
Evaluation of WNT Signaling Pathway Gene Variants WNT7B rs6519955, SFRP4 rs17171229 and RSPO2 rs611744 in Patients with Dupuytren's Contracture.
Title: Evaluation of WNT Signaling Pathway Gene Variants WNT7B rs6519955, SFRP4 rs17171229 and RSPO2 rs611744 in Patients with Dupuytren's Contracture.
RSPO2 inhibits BMP signaling to promote self-renewal in acute myeloid leukemia.
Title: RSPO2 inhibits BMP signaling to promote self-renewal in acute myeloid leukemia.
Role of R-spondin 2 in arterial lymphangiogenesis and atherosclerosis.
Title: Role of R-spondin 2 in arterial lymphangiogenesis and atherosclerosis.
R-spondin2 signaling is required for oocyte-driven intercellular communication and follicular growth.
Title: R-spondin2 signaling is required for oocyte-driven intercellular communication and follicular growth.
R-spondin2 Suppresses the Progression of Hepatocellular Carcinoma via MAPK Signaling Pathway.
Title: R-spondin2 Suppresses the Progression of Hepatocellular Carcinoma via MAPK Signaling Pathway.
RSPO2 silence inhibits tumorigenesis of nasopharyngeal carcinoma by ZNRF3/Hedgehog-Gli1 signal pathway.
Title: RSPO2 silence inhibits tumorigenesis of nasopharyngeal carcinoma by ZNRF3/Hedgehog-Gli1 signal pathway.
R-spondins engage heparan sulfate proteoglycans to potentiate WNT signaling.
Title: R-spondins engage heparan sulfate proteoglycans to potentiate WNT signaling.

Submit: New GeneRIF Correction See all GeneRIFs (37)

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

Associated conditions

Description	Tests
Humerofemoral hypoplasia with radiotibial ray deficiency MedGen: C4747940 OMIM: 618022 GeneReviews: Not available	Compare labs
Tetraamelia syndrome 2 MedGen: C4747923 OMIM: 618021 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Wnt signaling and Dupuytren's disease. 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

SHGC-34805 (e-PCR)
- UniSTS:61704

RH45057 (e-PCR)
- UniSTS:48649

WI-13991 (e-PCR)
- UniSTS:59936

G32159 (e-PCR)
- UniSTS:66734

G63521 (e-PCR)
- UniSTS:140483

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables BMP receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables heparin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in bone mineralization	IEA Inferred from Electronic Annotation more info
involved_in canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in dopaminergic neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in embryonic forelimb morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in embryonic hindlimb morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in epithelial tube branching involved in lung morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in limb development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lung growth	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of odontogenesis of dentin-containing tooth	IEA Inferred from Electronic Annotation more info
involved_in osteoblast differentiation	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 canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in trachea cartilage morphogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: R-spondin-2

Names: R-spondin 2 homolog; roof plate-specific spondin-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.

Genomic

NG_065170.1 RefSeqGene

Range

5066..189370

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1405

mRNA and Protein(s)

NM_001282863.2 → NP_001269792.1 R-spondin-2 isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) difers in the 5' UTR and lacks an in-frame exon in the central coding region compare to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC025508, AP003479, BC036554, BI496604

Consensus CDS

CCDS64953.1

UniProtKB/TrEMBL

B3KVP3

Related

ENSP00000427937.1, ENST00000517781.5

Conserved Domains (1) summary

cd00064
Location:36 → 79

FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
NM_001317942.2 → NP_001304871.1 R-spondin-2 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translation start site compared to variant 1. The encoded isoform (3) has a shorter N-terminus and lacks a predicted signal peptide compared to isoform 1.

Source sequence(s)

AK123027, AP003479, BC027938, BC036554, BI496605

Consensus CDS

CCDS83314.1

UniProtKB/TrEMBL

B3KVP3

Related

ENSP00000428940.1, ENST00000517939.5

Conserved Domains (1) summary

cd00064
Location:32 → 75

FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
NM_178565.5 → NP_848660.3 R-spondin-2 isoform 1 precursor

See identical proteins and their annotated locations for NP_848660.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC025508, AK123027, AY358166, DA400238

Consensus CDS

CCDS6307.1

UniProtKB/Swiss-Prot

B3KVP0, Q4G0U4, Q6UXX9, Q8N6X6

Related

ENSP00000276659.5, ENST00000276659.10

Conserved Domains (2) summary

cd00064
Location:99 → 142

FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.

pfam15913
Location:40 → 144

Furin-like_2; Furin-like repeat, cysteine-rich