RSPO4 - R-spondin 4 Gene

Homo sapiens

Also known as CRISTIN4; C20orf182

Gene ID: 343637 | Gene type: protein coding

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

Protein Preferred Names

Protein Names

R-spondin-4

R-spondin family, member 4

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12308	RSPO4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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