Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	343637
Gene name	R-spondin 4
Gene symbol	RSPO4
Synonyms (NCBI Gene)	C20orf182CRISTIN4
Chromosome	20
Chromosome location	20p13
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 involve

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs74315420	T>C	Pathogenic	Coding sequence variant, missense variant
rs74315421	A>G	Pathogenic	Coding sequence variant, missense variant
rs74315422	C>T	Pathogenic	Coding sequence variant, missense variant
rs74315423	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs387907026	G>A	Pathogenic	Coding sequence variant, stop gained
rs387907027	G>A	Pathogenic	Coding sequence variant, missense variant
rs387907028	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs768138495	->C	Pathogenic	Coding sequence variant, frameshift variant
rs775644973	C>T	Pathogenic	Splice donor variant

Show/Hide all (70)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017214	hsa-miR-335-5p	Microarray	18185580
MIRT1321420	hsa-miR-1205	CLIP-seq
MIRT1321421	hsa-miR-1909	CLIP-seq
MIRT1321422	hsa-miR-3123	CLIP-seq
MIRT1321423	hsa-miR-320a	CLIP-seq
MIRT1321424	hsa-miR-320b	CLIP-seq
MIRT1321425	hsa-miR-320c	CLIP-seq
MIRT1321426	hsa-miR-320d	CLIP-seq
MIRT1321427	hsa-miR-3616-3p	CLIP-seq
MIRT1321428	hsa-miR-3925-5p	CLIP-seq
MIRT1321429	hsa-miR-3976	CLIP-seq
MIRT1321430	hsa-miR-4429	CLIP-seq
MIRT1321431	hsa-miR-4728-5p	CLIP-seq
MIRT1321432	hsa-miR-1207-5p	CLIP-seq
MIRT1321433	hsa-miR-2278	CLIP-seq
MIRT1321434	hsa-miR-2861	CLIP-seq
MIRT1321435	hsa-miR-298	CLIP-seq
MIRT1321436	hsa-miR-3150b-3p	CLIP-seq
MIRT1321437	hsa-miR-3154	CLIP-seq
MIRT1321438	hsa-miR-3179	CLIP-seq
MIRT1321439	hsa-miR-3202	CLIP-seq
MIRT1321440	hsa-miR-371-3p	CLIP-seq
MIRT1321441	hsa-miR-3918	CLIP-seq
MIRT1321442	hsa-miR-3919	CLIP-seq
MIRT1321443	hsa-miR-3978	CLIP-seq
MIRT1321444	hsa-miR-4311	CLIP-seq
MIRT1321445	hsa-miR-4419a	CLIP-seq
MIRT1321446	hsa-miR-4428	CLIP-seq
MIRT1321447	hsa-miR-4468	CLIP-seq
MIRT1321448	hsa-miR-4476	CLIP-seq
MIRT1321449	hsa-miR-4497	CLIP-seq
MIRT1321450	hsa-miR-4510	CLIP-seq
MIRT1321451	hsa-miR-4512	CLIP-seq
MIRT1321452	hsa-miR-4514	CLIP-seq
MIRT1321453	hsa-miR-4692	CLIP-seq
MIRT1321454	hsa-miR-4736	CLIP-seq
MIRT1321455	hsa-miR-4756-3p	CLIP-seq
MIRT1321456	hsa-miR-4763-3p	CLIP-seq
MIRT1321457	hsa-miR-4784	CLIP-seq
MIRT1321458	hsa-miR-4802-5p	CLIP-seq
MIRT1321459	hsa-miR-541	CLIP-seq
MIRT1321460	hsa-miR-654-5p	CLIP-seq
MIRT1321461	hsa-miR-939	CLIP-seq
MIRT2095433	hsa-miR-1224-5p	CLIP-seq
MIRT2095434	hsa-miR-2115	CLIP-seq
MIRT2095435	hsa-miR-320e	CLIP-seq
MIRT2095436	hsa-miR-3977	CLIP-seq
MIRT1321447	hsa-miR-4468	CLIP-seq
MIRT2095437	hsa-miR-4663	CLIP-seq
MIRT2095438	hsa-miR-4751	CLIP-seq
MIRT2095439	hsa-miR-499a-5p	CLIP-seq
MIRT2095440	hsa-miR-516a-3p	CLIP-seq
MIRT1321447	hsa-miR-4468	CLIP-seq
MIRT1321447	hsa-miR-4468	CLIP-seq
MIRT2095437	hsa-miR-4663	CLIP-seq
MIRT2095433	hsa-miR-1224-5p	CLIP-seq
MIRT2095434	hsa-miR-2115	CLIP-seq
MIRT2095435	hsa-miR-320e	CLIP-seq
MIRT2095436	hsa-miR-3977	CLIP-seq
MIRT2095438	hsa-miR-4751	CLIP-seq
MIRT2095439	hsa-miR-499a-5p	CLIP-seq
MIRT2095440	hsa-miR-516a-3p	CLIP-seq
MIRT1321436	hsa-miR-3150b-3p	CLIP-seq
MIRT2458661	hsa-miR-3689d	CLIP-seq
MIRT2458662	hsa-miR-4434	CLIP-seq
MIRT2458663	hsa-miR-4459	CLIP-seq
MIRT2458664	hsa-miR-4516	CLIP-seq
MIRT2458665	hsa-miR-4722-5p	CLIP-seq
MIRT1321457	hsa-miR-4784	CLIP-seq
MIRT2458666	hsa-miR-765	CLIP-seq

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	24431302
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0008201	Function	Heparin binding	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IDA	29769720
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IEA
GO:0030177	Process	Positive regulation of Wnt signaling pathway	NAS	24431302
GO:0035878	Process	Nail development	IMP	17805348
GO:0060173	Process	Limb development	IEA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IBA

MIM	HGNC	e!Ensembl
610573	16175	ENSG00000101282

Q2I0M5

Protein name

R-spondin-4 (Roof plate-specific spondin-4) (hRspo4)

Protein function

Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors (PubMed:29769720). Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by ex

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15913	Furin-like_2	35 → 135	Furin-like repeat, cysteine-rich	Domain

Sequence

MRAPLCLLLLVAHAVDMLALNRRKKQVGTGLGGNCTGCIICSEENGCSTCQQRLFLFIRR
EGIRQYGKCLHDCPPGYFGIRGQEVNRCKKCGATCESCFSQDFCIRCKRQFYLYKGKCLP
TCPPGTLAHQNTRECQGECELGPWGGWSPCTHNGKTCGSAWGLESRVREAGRAGHEEAAT
CQVLSESRKCPIQRPCPGERSPGQKKGRKDRRPRKDRKLDRRLDVRPRQPGLQP

Sequence length

234

Interactions

View interactions

	KEGG		Reactome
	Wnt signaling pathway		Regulation of FZD by ubiquitination

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Nonsyndromic congenital nail disorder 4	Pathogenic	rs74315420, rs74315421, rs74315422, rs74315423, rs387907026, rs387907027, rs387907028, rs775644973	RCV000001249 RCV000001250 RCV000001251 RCV000001252 RCV000023830 RCV000023831 RCV000023832 RCV003444150

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
RSPO4-related disorder	Uncertain significance; Benign; Likely benign	rs191521473, rs138935370, rs369860447, rs199861662	RCV003936668 RCV003924097 RCV003979114 RCV003964224

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anonychia congenita	Associate	17186469, 17805348, 17914448, 23234511, 34099859, 36421794
Ectodermal Dysplasia	Associate	36421794
Ependymoma	Associate	32607579
Esophageal Neoplasms	Associate	19472401
Nail Diseases	Associate	17186469
Neoplasms	Associate	17186469, 36611933
Thyroid Cancer Papillary	Stimulate	36611933
Toenail Dystrophy Isolated	Associate	23234511

RSPO4 (R-spondin 4)