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

Gene ID: 340419, updated on 1-Jun-2020

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
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

Genomic context

See RSPO2 in Genome Data Viewer
Location:
8q23.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (107899316..108083680, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (108911544..109095913, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375703 Neighboring gene RNA, 5S ribosomal pseudogene 275 Neighboring gene nuclear receptor binding factor 2 pseudogene 4 Neighboring gene aurora kinase B pseudogene 1 Neighboring gene eukaryotic translation initiation factor 3 subunit E

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

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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC35555, MGC43342

Gene Ontology Provided by GOA

Function Evidence Code Pubs
heparin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
 
bone mineralization IEA
Inferred from Electronic Annotation
more info
 
dopaminergic neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
embryonic forelimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
embryonic hindlimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
epithelial tube branching involved in lung morphogenesis IEA
Inferred from Electronic Annotation
more info
 
limb development IMP
Inferred from Mutant Phenotype
more info
PubMed 
lung growth IEA
Inferred from Electronic Annotation
more info
 
negative regulation of odontogenesis of dentin-containing tooth IEA
Inferred from Electronic Annotation
more info
 
osteoblast differentiation 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 canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
trachea cartilage morphogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell surface IEA
Inferred from Electronic Annotation
more info
 
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-2
Names
R-spondin 2 homolog
roof plate-specific spondin-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.

Genomic

  1. NG_065170.1 RefSeqGene

    Range
    5066..189370
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001282863.1NP_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/Swiss-Prot
    Q6UXX9
    Related
    ENSP00000427937.1, ENST00000517781.5
    Conserved Domains (1) summary
    cd00064
    Location:3679
    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.
  2. NM_001317942.1NP_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, BC027938, BC036554, BI496605
    Consensus CDS
    CCDS83314.1
    UniProtKB/Swiss-Prot
    Q6UXX9
    UniProtKB/TrEMBL
    B3KVP3
    Related
    ENSP00000428940.1, ENST00000517939.5
    Conserved Domains (1) summary
    cd00064
    Location:3275
    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.
  3. NM_178565.5NP_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
    Q6UXX9
    UniProtKB/TrEMBL
    B3KVP3
    Related
    ENSP00000276659.5, ENST00000276659.10
    Conserved Domains (2) summary
    cd00064
    Location:99142
    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:40144
    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_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    107899316..108083680 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013395.2XP_016868884.1  R-spondin-2 isoform X3

  2. XM_011517019.1XP_011515321.1  R-spondin-2 isoform X2

    Conserved Domains (2) summary
    cd00064
    Location:106149
    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:47150
    Furin-like_2; Furin-like repeat, cysteine-rich
  3. XM_011517018.1XP_011515320.1  R-spondin-2 isoform X1

    Conserved Domains (2) summary
    cd00064
    Location:106149
    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:47151
    Furin-like_2; Furin-like repeat, cysteine-rich
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