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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	340419
Gene name	R-spondin 2
Gene symbol	RSPO2
Synonyms (NCBI Gene)	CRISTIN2HHRRDTETAMS2
Chromosome	8
Chromosome location	8q23.1
Summary	This gene encodes a member of the R-spondin family of proteins. These proteins are secreted ligands of leucine-rich repeat containing G protein-coupled receptors that enhance Wnt signaling through the inhibition of ubiquitin E3 ligases. A chromosomal tran

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SNP ID	Visualize variation	Clinical significance	Consequence
rs758888137	G>A,T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs1554576888	C>A	Pathogenic	Coding sequence variant, stop gained
rs1554579568	C>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant, intron variant

Show/Hide all (54)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018965	hsa-miR-335-5p	Microarray	18185580
MIRT038982	hsa-miR-15a-3p	CLASH	23622248
MIRT736322	hsa-miR-196b-5p	Luciferase reporter assayWestern blottingqRT-PCR	33402849
MIRT736322	hsa-miR-196b-5p	Luciferase reporter assayWestern blottingMicroarrayqRT-PCR	33402849
MIRT1321398	hsa-miR-1915	CLIP-seq
MIRT1321399	hsa-miR-3133	CLIP-seq
MIRT1321400	hsa-miR-3137	CLIP-seq
MIRT1321401	hsa-miR-3613-3p	CLIP-seq
MIRT1321402	hsa-miR-3686	CLIP-seq
MIRT1321403	hsa-miR-4302	CLIP-seq
MIRT1321404	hsa-miR-4520a-3p	CLIP-seq
MIRT1321405	hsa-miR-4520b-3p	CLIP-seq
MIRT1321406	hsa-miR-4529-3p	CLIP-seq
MIRT1321407	hsa-miR-4709-5p	CLIP-seq
MIRT1321408	hsa-miR-4726-3p	CLIP-seq
MIRT1321409	hsa-miR-4778-5p	CLIP-seq
MIRT1321410	hsa-miR-873	CLIP-seq
MIRT2095427	hsa-miR-4778-3p	CLIP-seq
MIRT2319791	hsa-let-7a	CLIP-seq
MIRT2319792	hsa-let-7b	CLIP-seq
MIRT2319793	hsa-let-7c	CLIP-seq
MIRT2319794	hsa-let-7d	CLIP-seq
MIRT2319795	hsa-let-7e	CLIP-seq
MIRT2319796	hsa-let-7f	CLIP-seq
MIRT2319797	hsa-let-7g	CLIP-seq
MIRT2319798	hsa-let-7i	CLIP-seq
MIRT1321398	hsa-miR-1915	CLIP-seq
MIRT2319799	hsa-miR-196a	CLIP-seq
MIRT2319800	hsa-miR-196b	CLIP-seq
MIRT2319801	hsa-miR-4458	CLIP-seq
MIRT2319802	hsa-miR-4500	CLIP-seq
MIRT2319803	hsa-miR-4678	CLIP-seq
MIRT2319804	hsa-miR-4709-3p	CLIP-seq
MIRT1321408	hsa-miR-4726-3p	CLIP-seq
MIRT2319805	hsa-miR-4738-3p	CLIP-seq
MIRT2319806	hsa-miR-548ac	CLIP-seq
MIRT2319807	hsa-miR-548ae	CLIP-seq
MIRT2319808	hsa-miR-548aj	CLIP-seq
MIRT2319809	hsa-miR-548am	CLIP-seq
MIRT2319810	hsa-miR-548d-3p	CLIP-seq
MIRT2319811	hsa-miR-548x	CLIP-seq
MIRT2319812	hsa-miR-548z	CLIP-seq
MIRT1321410	hsa-miR-873	CLIP-seq
MIRT2319813	hsa-miR-98	CLIP-seq
MIRT2393937	hsa-miR-1302	CLIP-seq
MIRT2393938	hsa-miR-147	CLIP-seq
MIRT2393939	hsa-miR-3911	CLIP-seq
MIRT2393940	hsa-miR-4298	CLIP-seq
MIRT2393941	hsa-miR-4491	CLIP-seq
MIRT2393942	hsa-miR-4648	CLIP-seq
MIRT2393943	hsa-miR-4654	CLIP-seq
MIRT2393944	hsa-miR-4657	CLIP-seq
MIRT2393945	hsa-miR-4769-5p	CLIP-seq
MIRT2393946	hsa-miR-644	CLIP-seq

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Transcription factor	Regulation	Reference
FOXQ1	Activation	20145154

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0005102	Function	Signaling receptor binding	IPI	22615920
GO:0005515	Function	Protein binding	IPI	25416956, 29769720, 32296183, 32814053
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:0009986	Component	Cell surface	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:0030282	Process	Bone mineralization	IEA
GO:0035115	Process	Embryonic forelimb morphogenesis	IEA
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0042489	Process	Negative regulation of odontogenesis of dentin-containing tooth	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060173	Process	Limb development	IEA
GO:0060173	Process	Limb development	IMP	29769720
GO:0060437	Process	Lung growth	IEA
GO:0060441	Process	Epithelial tube branching involved in lung morphogenesis	IEA
GO:0060535	Process	Trachea cartilage morphogenesis	IEA
GO:0070700	Function	BMP receptor binding	IBA
GO:0071542	Process	Dopaminergic neuron differentiation	IEA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IBA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IEA

MIM	HGNC	e!Ensembl
610575	28583	ENSG00000147655

Q6UXX9

Protein name

R-spondin-2 (Roof plate-specific spondin-2) (hRspo2)

Protein function

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

PDB

8XFP , 8XFS , 8XFT , 8XUM , 8Y69

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15913	Furin-like_2	40 → 141	Furin-like repeat, cysteine-rich	Domain

Sequence

MQFRLFSFALIILNCMDYSHCQGNRWRRSKRASYVSNPICKGCLSCSKDNGCSRCQQKLF
FFLRREGMRQYGECLHSCPSGYYGHRAPDMNRCARCRIENCDSCFSKDFCTKCKVGFYLH
RGRCFDECPDGFAPLEETMECVEGCEVGHWSEWGTCSRNNRTCGFKWGLETRTRQIVKKP
VKDTILCPTIAESRRCKMTMRHCPGGKRTPKAKEKRNKKKKRKLIERAQEQHSVFLATDR
ANQ

Sequence length

243

Interactions

View interactions

	KEGG		Reactome
	Wnt signaling pathway		Regulation of FZD by ubiquitination

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Humerofemoral hypoplasia with radiotibial ray deficiency	Pathogenic	rs758888137	RCV000656660
Tetraamelia syndrome 2	Likely pathogenic; Pathogenic	rs1554579568, rs1554576888	RCV000656658 RCV000656659

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Colorectal cancer	Benign	rs34627831	RCV005905869
RSPO2-related disorder	Likely benign	rs147756016, rs767045413, rs182423206, rs768980014	RCV003906361 RCV003966714 RCV003959513 RCV003969641
Thyroid cancer, nonmedullary, 1	Benign	rs34627831	RCV005905870

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	28350845
Adenoma	Associate	37612734
Adenomatous Polyposis Coli	Stimulate	33320737
Breast Neoplasms	Stimulate	33320737
Breast Neoplasms	Associate	40076569
Carcinogenesis	Associate	28219935, 28350845, 34234737
Carcinoma Endometrioid	Associate	34200508
Carcinoma Hepatocellular	Inhibit	32581137
Colonic Neoplasms	Associate	22895193, 33320737
Colonic Neoplasms	Stimulate	33320737
Colorectal Neoplasms	Associate	22895193, 32305727, 37612734
Colorectal Neoplasms	Inhibit	24476626
Colorectal Neoplasms	Stimulate	33320737
Dupuytren Contracture	Associate	21732829, 34573275
Inflammation	Associate	37354487
Neoplasm Metastasis	Inhibit	24476626
Neoplasms	Inhibit	24476626, 32581137
Neoplasms	Associate	26416247, 33320737, 33450435, 37612734
Neuroblastoma	Associate	29505958
Neurodegenerative Diseases	Associate	33236465
Ossification of the posterior longitudinal ligament of the spine	Associate	27374772
Osteoarthritis	Inhibit	22127703
Osteoarthritis	Stimulate	37354487
Parkinson Disease	Inhibit	34941945
Pheochromocytoma	Associate	34234737
Precancerous Conditions	Associate	24128875
Stomach Diseases	Associate	26269563
Stomach Neoplasms	Associate	24128875, 28219935, 33450435
Thyroid Cancer Papillary	Associate	26416247
Tibial Meniscus Injuries	Associate	37354487
Triple Negative Breast Neoplasms	Associate	33320737

RSPO2 (R-spondin 2)