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RSPO4 R-spondin 4 [ Homo sapiens (human) ]

Gene ID: 343637, updated on 18-Aug-2020

Summary

Official Symbol
RSPO4provided by HGNC
Official Full Name
R-spondin 4provided by HGNC
Primary source
HGNC:HGNC:16175
See related
Ensembl:ENSG00000101282 MIM:610573
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
CRISTIN4; C20orf182
Summary
This gene encodes a member of the R-spondin family of proteins that share a common domain organization consisting of a signal peptide, cysteine-rich/furin-like domain, thrombospondin domain and a C-terminal basic region. The encoded protein may be involved in activation of Wnt/beta-catenin signaling pathways. Mutations in this gene are associated with anonychia congenital. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]
Expression
Biased expression in lung (RPKM 1.4), testis (RPKM 0.6) and 7 other tissues See more
Orthologs

Genomic context

See RSPO4 in Genome Data Viewer
Location:
20p13
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (958452..1002311, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (939095..982907, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 110 member A Neighboring gene ribosomal protein S10 pseudogene 5 Neighboring gene angiopoietin 4 Neighboring gene uncharacterized LOC105372492 Neighboring gene Sharpr-MPRA regulatory region 1111 Neighboring gene uncharacterized LOC105372494

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ16018

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 
Process Evidence Code Pubs
Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
nail development IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 
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-4
Names
R-spondin family, member 4
hRspo4
roof plate-specific spondin-4

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_013043.1 RefSeqGene

    Range
    4954..48813
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001029871.4NP_001025042.2  R-spondin-4 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001025042.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK122609, AL050325, BQ185331
    Consensus CDS
    CCDS42846.1
    UniProtKB/Swiss-Prot
    Q2I0M5
    Related
    ENSP00000217260.4, ENST00000217260.9
    Conserved Domains (2) summary
    cd00064
    Location:90136
    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:35138
    Furin-like_2; Furin-like repeat, cysteine-rich
  2. NM_001040007.3NP_001035096.1  R-spondin-4 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001035096.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AL050325, BQ185331, DQ355152
    Consensus CDS
    CCDS42845.1
    UniProtKB/Swiss-Prot
    Q2I0M5
    Related
    ENSP00000383475.2, ENST00000400634.2
    Conserved Domains (2) summary
    cd00064
    Location:90136
    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:35137
    Furin-like_2; Furin-like repeat, cysteine-rich

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    958452..1002311 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027839.1XP_016883328.1  R-spondin-4 isoform X1

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