Human Gene RSPO4 (ENST00000217260.9_11) from GENCODE V47lift37
  Description: R-spondin 4, transcript variant 1 (from RefSeq NM_001029871.4)
Gencode Transcript: ENST00000217260.9_11
Gencode Gene: ENSG00000101282.9_13
Transcript (Including UTRs)
   Position: hg19 chr20:939,095-982,954 Size: 43,860 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr20:941,000-982,807 Size: 41,808 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:939,095-982,954)mRNA (may differ from genome)Protein (234 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RSPO4_HUMAN
DESCRIPTION: RecName: Full=R-spondin-4; AltName: Full=Roof plate-specific spondin-4; Short=hRspo4; Flags: Precursor;
FUNCTION: Activator of the beta-catenin signaling cascade, leading to TCF-dependent gene activation. Acts both in the canonical Wnt/beta-catenin-dependent pathway and in non-canonical Wnt signaling pathway, probably by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway (By similarity).
SUBUNIT: Binds heparin (By similarity).
SUBCELLULAR LOCATION: Secreted (By similarity).
DOMAIN: The FU repeat is required for activation and stabilization of beta-catenin (By similarity).
PTM: Tyr-112 may be phosphorylated; however as this position is probably extracellular, the vivo relevance is not proven.
DISEASE: Defects in RSPO4 are the cause of nail disorder non- syndromic congenital type 4 (NDNC4) [MIM:206800]. A nail disorder characterized by congenital anonychia or its milder phenotypic variant hyponychia. Anonychia/hyponychia is the absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies.
MISCELLANEOUS: Upon injection into mice, it induces rapid onset of crypt cell proliferation involving beta-catenin stabilization. It also displays efficacy in a model of chemotherapy-induced intestinal mucositis.
SIMILARITY: Belongs to the R-spondin family.
SIMILARITY: Contains 1 FU (furin-like) repeat.
SIMILARITY: Contains 1 TSP type-1 domain.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RSPO4";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RSPO4
Diseases sorted by gene-association score: anonychia congenita* (1669), nail disease (13)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.59 RPKM in Lung
Total median expression: 52.71 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -90.00147-0.612 Picture PostScript Text
3' UTR -629.601905-0.330 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006212 - Furin_repeat
IPR009030 - Growth_fac_rcpt
IPR000884 - Thrombospondin_1_rpt

Pfam Domains:
PF15913 - Furin-like repeat, cysteine-rich

SCOP Domains:
57184 - Growth factor receptor domain
82895 - TSP-1 type 1 repeat

ModBase Predicted Comparative 3D Structure on Q2I0M5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008201 heparin binding

Biological Process:
GO:0016055 Wnt signaling pathway
GO:0030177 positive regulation of Wnt signaling pathway
GO:0035878 nail development
GO:0050896 response to stimulus

Cellular Component:
GO:0005576 extracellular region


-  Descriptions from all associated GenBank mRNAs
  AK122609 - Homo sapiens cDNA FLJ16018 fis, clone BNGH42003570, weakly similar to Mus musculus mRNA for thrombospondin type 1 domain.
DQ355152 - Homo sapiens R-spondin family member 4 variant (RSPO4) mRNA, complete cds, alternatively spliced.
BC156852 - Synthetic construct Homo sapiens clone IMAGE:100062530, MGC:190546 R-spondin family, member 4 (RSPO4) mRNA, encodes complete protein.
AB528812 - Synthetic construct DNA, clone: pF1KE0281, Homo sapiens RSPO4 gene for R-spondin family, member 4, without stop codon, in Flexi system.
JD217657 - Sequence 198681 from Patent EP1572962.
JD135159 - Sequence 116183 from Patent EP1572962.
JD167534 - Sequence 148558 from Patent EP1572962.
JD214724 - Sequence 195748 from Patent EP1572962.
JD209291 - Sequence 190315 from Patent EP1572962.
JD186412 - Sequence 167436 from Patent EP1572962.
JD156912 - Sequence 137936 from Patent EP1572962.
JD065542 - Sequence 46566 from Patent EP1572962.
JD248276 - Sequence 229300 from Patent EP1572962.
JD249295 - Sequence 230319 from Patent EP1572962.
MP005484 - Sequence 29 from Patent WO2018215614.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q2I0M5 (Reactome details) participates in the following event(s):

R-HSA-4641206 RSPOs bind LGRs
R-HSA-4641205 RSPO:LGR binds ZNRF3
R-HSA-4641246 ZNRF3 autoubiquitinates to promote its internalization
R-HSA-4641263 Regulation of FZD by ubiquitination
R-HSA-201681 TCF dependent signaling in response to WNT
R-HSA-195721 Signaling by WNT
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A2A2I6, C20orf182, ENST00000217260.1, ENST00000217260.2, ENST00000217260.3, ENST00000217260.4, ENST00000217260.5, ENST00000217260.6, ENST00000217260.7, ENST00000217260.8, NM_001029871, Q2I0M5, Q9UGB2, RSPO4_HUMAN, uc317ctj.1, uc317ctj.2
UCSC ID: ENST00000217260.9_11
RefSeq Accession: NM_001029871.4
Protein: Q2I0M5 (aka RSPO4_HUMAN)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.