U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 340419, updated on 5-Mar-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    8q23.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (107899316..108083620, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (109027818..109212087, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (108911544..109095848, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375703 Neighboring gene RNA, 5S ribosomal pseudogene 275 Neighboring gene NANOG hESC enhancer GRCh37_chr8:109016349-109016916 Neighboring gene nuclear receptor binding factor 2 pseudogene 4 Neighboring gene Sharpr-MPRA regulatory region 222 Neighboring gene aurora kinase B pseudogene 1 Neighboring gene MPRA-validated peak7146 silencer 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

    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
    Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.
    EBI GWAS Catalog
    Wnt signaling and Dupuytren's disease.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC35555, MGC43342

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 
    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
     

    General protein information

    Preferred Names
    R-spondin-2
    Names
    R-spondin 2 homolog
    roof plate-specific spondin-2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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), LRG_1405

    mRNA and Protein(s)

    1. NM_001282863.2NP_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: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_001317942.2NP_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: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
      B3KVP0, Q4G0U4, Q6UXX9, Q8N6X6
      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: 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

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      107899316..108083620 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      109027818..109212087 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)