RSPO4 - R-spondin 4 Gene

Also Known as CRISTIN4; C20orf182

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 343637

About RSPO4

Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:958,452-1,002,311 (from NCBI)

This gene has 2 transcripts (splice variants), 169 orthologues, 3 paralogues and is associated with 3 phenotypes. Biased expression in lung (RPKM 1.4), testis (RPKM 0.6) and 7 other tissues.

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]

RSPO4 Products (2)

mRNA Protein Name
NM_001029871.4 NP_001025042.2 R-spondin-4 isoform 1 precursor
NM_001040007.3 NP_001035096.1 R-spondin-4 isoform 2 precursor

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence References Source
acts upstream of or within nail development IMP
IMP: Inferred from mutant phenotype
17805348 GOA
involved in positive regulation of Wnt signaling pathway IDA
IDA: Inferred from direct assay
29769720 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

R-spondin-4

  • R-spondin family, member 4

RSPO4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RSPO4 Q2I0M5 PIH1D2 Homo sapiens Q8WWB5
Validated Y2H
32296183
Intra
RSPO4 Q2I0M5 DHX57 Homo sapiens Q6P158
Validated Y2H
32296183
Intra
RSPO4 Q2I0M5 DHX57 Homo sapiens Q6P158
Y2H Array
32296183
Intra
RSPO4 Q2I0M5 GNG13 Homo sapiens Q9P2W3
Validated Y2H
32296183
Intra
RSPO4 Q2I0M5 GUCD1 Homo sapiens Q96NT3-2
Validated Y2H
32296183
Intra
RSPO4 Q2I0M5 ANKRD11 Homo sapiens X5D778
Validated Y2H
32296183
Intra
RSPO4 Q2I0M5 GPSM3 Homo sapiens Q9Y4H4
Validated Y2H
32296183
Intra
RSPO4 Q2I0M5 ZNF330 Homo sapiens Q9Y3S2
Validated Y2H
32296183
Intra
RSPO4 Q2I0M5 KLHL38 Homo sapiens Q2WGJ6
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Nail Disorder, Nonsyndromic Congenital, 4

  • Anonychia Congenita

  • Anonychia

  • Hyponychia Congenita

  • NDNC4

  • Anonychia/Hyponychia Congenita

  • Nonsyndromic Congenital Nail Disorder 4

  • Isolated Congenital Anonychia

  • Anonychia Congenita Totalis

  • Anonychia Totalis

  • Autosomal Recessive Nonsyndromic Congenital Nail Disorder-4

  • Congenital Anonychia

  • Nonsyndromic Congenital Nail Disorder, 4

  • Absent Nails

  • Aplastic Nails

  • Congenital Absence Of Nails

  • Isolated Anonychia

  • Nail Disorder, Non-Syndromic Congenital, 4

  • Nail Disorder, Nonsyndromic, Congenital, Type 4
Nonsyndromic Congenital Nail Disorder

  • Nail Disorder, Nonsyndromic Congenital
Witkop Syndrome

  • Tooth And Nail Syndrome

  • Hypoplastic Enamel-Onycholysis-Hypohidrosis Syndrome

  • Tns

  • Ectodermal Dysplasia 3, Witkop Type

  • ECTD3

  • Ectodermal Dysplasia 3, Tooth/Nail Type

  • Tooth-And-Nail Syndrome

  • Dysplasia Of Nails With Hypodontia

  • Nail Dysplasia With Hypodontia

  • Witkop'S Syndrome

  • Hypodontia - Dysplasia Of Nails

  • Hypodontia-Dysplasia Of Nails Syndrome

  • Hypodontia-Nail Dysgenesis Syndrome

  • Hypodontia-Nail Dysgenesis
Tetraamelia Syndrome

  • Tetra-Amelia Syndrome

  • Tetraamelia-Multiple Malformations Syndrome

  • Tetra-Amelia

  • Tetra-Amelia, Autosomal Recessive

  • Tetraamelia, Autosomal Recessive

  • Total Amelia

  • Zimmer Phocomelia

  • Tetams

  • Zimmer Taub Sova Syndrome
Ocular Tuberculosis
Loose Anagen Hair Syndrome

  • Loose Anagen Syndrome

  • LAHS
Nail Disease

  • Nail Diseases

  • Abnormality Of The Nail

  • Nail Anomaly
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS12308 RSPO4 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21747 Rspo4 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28264 Rspo4 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus RSPO4 VGNC VGNC:64799
Macaca mulatta RSPO4 VGNC VGNC:77023
Bos taurus RSPO4 VGNC VGNC:34190
Rattus norvegicus RSPO4 RGD RGD:1563415
Mus musculus RSPO4 MGD MGI:1924467
Canis familiaris RSPO4 VGNC VGNC:45784
Others RSPO4 NCBI