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	4920
Gene name	Receptor tyrosine kinase like orphan receptor 2
Gene symbol	ROR2
Synonyms (NCBI Gene)	BDBBDB1NTRKR2
Chromosome	9
Chromosome location	9q22.31
Summary	The protein encoded by this gene is a receptor protein tyrosine kinase and type I transmembrane protein that belongs to the ROR subfamily of cell surface receptors. The protein may be involved in the early formation of the chondrocytes and may be require

Show/Hide all (32)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34491822	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant
rs34574788	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs104894121	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs104894122	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs117134265	C>G,T	Likely-pathogenic, likely-benign	Downstream transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs121909082	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, genic downstream transcript variant, stop gained
rs121909083	G>A	Pathogenic	Downstream transcript variant, coding sequence variant, stop gained, genic downstream transcript variant
rs121909084	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs121909085	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs121909086	G>A,T	Pathogenic	Non coding transcript variant, synonymous variant, genic upstream transcript variant, stop gained, coding sequence variant
rs121909087	G>A	Pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, stop gained, coding sequence variant
rs141093530	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs141235720	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, genic downstream transcript variant
rs142386294	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, downstream transcript variant, missense variant, coding sequence variant
rs145631389	T>A,C	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs150610444	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, downstream transcript variant, missense variant, coding sequence variant
rs202010959	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs267607016	G>A	Pathogenic	Stop gained, synonymous variant, non coding transcript variant, coding sequence variant
rs374646337	G>A	Uncertain-significance, likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs529829552	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs756550177	A>G	Likely-pathogenic	Coding sequence variant, downstream transcript variant, missense variant, genic downstream transcript variant
rs767474960	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs863223289	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs863223290	GCCGC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs863223291	CTTGTAG>-	Pathogenic	Coding sequence variant, downstream transcript variant, frameshift variant, genic downstream transcript variant
rs863223292	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs886042428	->AGTCATCGGGGCAAGGCAGCAC	Pathogenic	Coding sequence variant, inframe indel, stop gained, genic downstream transcript variant
rs1554754007	->TCCG	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1587652899	->T	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1587655016	ATGCC>TACA	Likely-pathogenic	Frameshift variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs1587657302	->G	Pathogenic	3 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1587690611	C>T	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant

Show/Hide all (69)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016864	hsa-miR-335-5p	Microarray	18185580
MIRT051386	hsa-let-7f-5p	CLASH	23622248
MIRT438844	hsa-miR-451a	qRT-PCR	23294929
MIRT438844	hsa-miR-451a	qRT-PCR	23294929
MIRT1315131	hsa-miR-1243	CLIP-seq
MIRT1315132	hsa-miR-1321	CLIP-seq
MIRT1315133	hsa-miR-200b	CLIP-seq
MIRT1315134	hsa-miR-200c	CLIP-seq
MIRT1315135	hsa-miR-204	CLIP-seq
MIRT1315136	hsa-miR-211	CLIP-seq
MIRT1315137	hsa-miR-2115	CLIP-seq
MIRT1315138	hsa-miR-214	CLIP-seq
MIRT1315139	hsa-miR-338-5p	CLIP-seq
MIRT1315140	hsa-miR-3607-5p	CLIP-seq
MIRT1315141	hsa-miR-3612	CLIP-seq
MIRT1315142	hsa-miR-3619-5p	CLIP-seq
MIRT1315143	hsa-miR-3686	CLIP-seq
MIRT1315144	hsa-miR-4270	CLIP-seq
MIRT1315145	hsa-miR-429	CLIP-seq
MIRT1315146	hsa-miR-4291	CLIP-seq
MIRT1315147	hsa-miR-4441	CLIP-seq
MIRT1315148	hsa-miR-4446-5p	CLIP-seq
MIRT1315149	hsa-miR-4452	CLIP-seq
MIRT1315150	hsa-miR-4535	CLIP-seq
MIRT1315151	hsa-miR-4539	CLIP-seq
MIRT1315152	hsa-miR-4733-5p	CLIP-seq
MIRT1315153	hsa-miR-4739	CLIP-seq
MIRT1315154	hsa-miR-4755-5p	CLIP-seq
MIRT1315155	hsa-miR-4756-5p	CLIP-seq
MIRT1315156	hsa-miR-4780	CLIP-seq
MIRT1315157	hsa-miR-4790-3p	CLIP-seq
MIRT1315158	hsa-miR-4797-5p	CLIP-seq
MIRT1315159	hsa-miR-492	CLIP-seq
MIRT1315160	hsa-miR-516a-3p	CLIP-seq
MIRT1315161	hsa-miR-543	CLIP-seq
MIRT1315162	hsa-miR-623	CLIP-seq
MIRT1315163	hsa-miR-650	CLIP-seq
MIRT1315164	hsa-miR-761	CLIP-seq
MIRT1315165	hsa-miR-922	CLIP-seq
MIRT2093757	hsa-miR-193a-5p	CLIP-seq
MIRT2093758	hsa-miR-194	CLIP-seq
MIRT2093759	hsa-miR-205	CLIP-seq
MIRT2093760	hsa-miR-3127-3p	CLIP-seq
MIRT2093761	hsa-miR-371-5p	CLIP-seq
MIRT2093762	hsa-miR-4793-5p	CLIP-seq
MIRT2093763	hsa-miR-520d-5p	CLIP-seq
MIRT2093764	hsa-miR-524-5p	CLIP-seq
MIRT2318167	hsa-miR-2467-3p	CLIP-seq
MIRT2318168	hsa-miR-3616-3p	CLIP-seq
MIRT2318169	hsa-miR-4436b-3p	CLIP-seq
MIRT1315165	hsa-miR-922	CLIP-seq
MIRT2613968	hsa-miR-1178	CLIP-seq
MIRT2613969	hsa-miR-3910	CLIP-seq
MIRT2613970	hsa-miR-4635	CLIP-seq
MIRT2613971	hsa-miR-4715-3p	CLIP-seq
MIRT2613972	hsa-miR-488	CLIP-seq
MIRT2613973	hsa-miR-526b	CLIP-seq
MIRT2613974	hsa-miR-548an	CLIP-seq
MIRT2613975	hsa-miR-578	CLIP-seq
MIRT2613976	hsa-miR-767-3p	CLIP-seq
MIRT2613968	hsa-miR-1178	CLIP-seq
MIRT2613969	hsa-miR-3910	CLIP-seq
MIRT2613970	hsa-miR-4635	CLIP-seq
MIRT2613971	hsa-miR-4715-3p	CLIP-seq
MIRT2613972	hsa-miR-488	CLIP-seq
MIRT2613973	hsa-miR-526b	CLIP-seq
MIRT2613974	hsa-miR-548an	CLIP-seq
MIRT2613975	hsa-miR-578	CLIP-seq
MIRT2613976	hsa-miR-767-3p	CLIP-seq

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IBA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IEA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	TAS	1334494
GO:0005515	Function	Protein binding	IPI	22939624, 26035863, 31515488, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	1334494
GO:0007165	Process	Signal transduction	IMP	19486338
GO:0007165	Process	Signal transduction	TAS	1334494
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IBA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0015026	Function	Coreceptor activity	IEA
GO:0015026	Function	Coreceptor activity	TAS	24431302
GO:0016020	Component	Membrane	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0017147	Function	Wnt-protein binding	IBA
GO:0017147	Function	Wnt-protein binding	IEA
GO:0017147	Function	Wnt-protein binding	IPI	19486338
GO:0030335	Process	Positive regulation of cell migration	IDA	19486338
GO:0030424	Component	Axon	IBA
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0031435	Function	Mitogen-activated protein kinase kinase kinase binding	IPI	18762249
GO:0043235	Component	Receptor complex	IBA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
602337	10257	ENSG00000169071

Q01974

Protein name

Tyrosine-protein kinase transmembrane receptor ROR2 (EC 2.7.10.1) (Neurotrophic tyrosine kinase, receptor-related 2)

Protein function

Tyrosine-protein kinase receptor which may be involved in the early formation of the chondrocytes. It seems to be required for cartilage and growth plate development (By similarity). Phosphorylates YWHAB, leading to induction of osteogenesis and

PDB

3ZZW , 4GT4 , 6OSH , 6OSN , 6OSV , 9FSE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07679	I-set	62 → 152	Immunoglobulin I-set domain	Domain
PF01392	Fz	174 → 294	Fz domain	Domain
PF00051	Kringle	316 → 394	Kringle domain	Domain
PF07714	PK_Tyr_Ser-Thr	473 → 746	Protein tyrosine and serine/threonine kinase	Domain

Sequence

MARGSALPRRPLLCIPAVWAAAALLLSVSRTSGEVEVLDPNDPLGPLDGQDGPIPTLKGY
FLNFLEPVNNITIVQGQTAILHCKVAGNPPPNVRWLKNDAPVVQEPRRIIIRKTEYGSRL
RIQDLDTTDTGYYQCVATNGMKTITATGVLFVRLGPTHSPNHNFQDDYHEDGFCQPYRGI
ACARFIGNRTIYVDSLQMQGEIENRITAAFTMIGTSTHLSDQCSQFAIPSFCHFVFPLCD
ARSRTPKPRELCRDECEVLESDLCRQEYTIARSNPLILMRLQLPKCEALPMPESPDAANC
MRIGIPAERLGRYHQCYNGSGMDYRGTASTTKSGHQCQPWALQHPHSHHLSSTDFPELGG
GHAYCRNPGGQMEGPWCFTQNKNVRMELCDVPSCSPRDSSKMGILYILVPSIAIPLVIAC
LFFLVCMCRNKQKASASTPQRRQLMASPSQDMEMPLINQHKQAKLKEISLSAVRFMEELG
EDRFGKVYKGHLFGPAPGEQTQAVAIKTLKDKAEGPLREEFRHEAMLRARLQHPNVVCLL
GVVTKDQPLSMIFSYCSHGDLHEFLVMRSPHSDVGSTDDDRTVKSALEPPDFVHLVAQIA
AGMEYLSSHHVVHKDLATRNVLVYDKLNVKISDLGLFREVYAADYYKLLGNSLLPIRWMA
PEAIMYGKFSIDSDIWSYGVVLWEVFSYGLQPYCGYSNQDVVEMIRNRQVLPCPDDCPAW
VYALMIECWNEFPSRRPRFKDIHSRLRAWGNLSNYNSSAQTSGASNTTQTSSLSTSPVSN
VSNARYVGPKQKAPPFPQPQFIPMKGQIRPMVPPPQLYVPVNGYQPVPAYGAYLPNFYPV
QIPMQMAPQQVPPQMVPKPSSHHSGSGSTSTGYVTTAPSNTSMADRAALLSEGADDTQNA
PEDGAQSTVQEAEEEEEGSVPETELLGDCDTLQVDEAQVQLEA

Sequence length

943

Interactions

View interactions

	KEGG		Reactome
	Wnt signaling pathway		WNT5A-dependent internalization of FZD2, FZD5 and ROR2

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive Robinow syndrome	Likely pathogenic; Pathogenic	rs753069829, rs756479236, rs1365019676, rs1448877786, rs2118645585, rs121909083, rs121909084, rs121909085, rs121909086, rs863223291, rs121909087, rs267607016, rs1336789467, rs768848657, rs1587655016 View all (16 more)	RCV002499774 RCV001391176 RCV001548753 RCV003444965 RCV002226817 View all (26 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brachydactyly type B1	Likely pathogenic; Pathogenic	rs753069829, rs1448877786, rs121909082, rs104894122, rs863223289, rs121909084, rs863223290, rs104894121, rs1587657302, rs863223292, rs267607016, rs1308509155, rs2118683688	RCV002499774 RCV005050482 RCV000007727 RCV000007728 RCV000007729 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals	Pathogenic	rs863223290	RCV000007735	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly	Pathogenic	rs267607016	RCV000007742	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (29)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis multiplex congenita	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Autosomal dominant Robinow syndrome 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE B1	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly, type B1Robinow syndrome, autosomal recessive	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFUSE IDIOPATHIC SKELETAL HYPEROSTOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal symphalangism	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fetal akinesia deformation sequence 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROR2-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short stature	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TONSILLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIPLE NEGATIVE BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

ROR2 (receptor tyrosine kinase like orphan receptor 2)