RSPO4 R-spondin 4
Gene ID: 343637, updated on 5-Mar-2024Gene type: protein coding
Also known as: CRISTIN4; C20orf182
- See all available tests in GTR for this gene
- Go to complete Gene record for RSPO4
- Go to Variation Viewer for RSPO4 variants
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]
Associated conditions
Genomic context
- Location:
- 20p13
- Sequence:
- Chromosome: 20; NC_000020.11 (958452..1002311, complement)
- Total number of exons:
- 5
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for RSPO4 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- RSPO4 database
- SNP: GeneViewSNPs linked from GeneView
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