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

636

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
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 RCV000007730 RCV000007731 RCV000007732 RCV000007733 RCV000007737 RCV000007738 RCV000761457 RCV002790050 RCV003228722 RCV000855448 RCV000855449 RCV001353140 RCV001353138 RCV001353136 RCV001353135 RCV001353124 RCV001353123 RCV001353134 RCV001353132 RCV001353131 RCV001353130 RCV001353122 RCV001353127 RCV001353126 RCV001353121 RCV001265650
Brachydactyly type B1	Likely pathogenic; Pathogenic	rs753069829, rs1448877786, rs121909082, rs104894122, rs863223289, rs121909084, rs863223290, rs104894121, rs1587657302, rs863223292, rs267607016, rs1308509155, rs2118683688	RCV002499774 RCV005050482 RCV000007727 RCV000007728 RCV000007729 RCV005042008 RCV000007734 RCV000007736 RCV000007740 RCV000007741 RCV005042009 RCV003314001 RCV002499451
Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals	Pathogenic	rs863223290	RCV000007735
Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly	Pathogenic	rs267607016	RCV000007742

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Arthrogryposis multiplex congenita	Conflicting classifications of pathogenicity	rs145631389, rs117134265	RCV000855499 RCV000855500
Autosomal dominant Robinow syndrome 1	Benign; Likely benign	rs10761129, rs548573232, rs140581955	RCV000382446 RCV000352288 RCV000397410
Brachydactyly	Likely benign; Benign	rs548573232, rs140581955	RCV000278490 RCV000308467
Brachydactyly, type B1Robinow syndrome, autosomal recessive	Conflicting classifications of pathogenicity	rs34491822, rs529829552	RCV000147388 RCV000147384
Distal symphalangism	Conflicting classifications of pathogenicity	rs1836911147	RCV005627424
Familial cancer of breast	Benign	rs10992065	RCV005924401
Fetal akinesia deformation sequence 1	Conflicting classifications of pathogenicity	rs145631389, rs117134265	RCV000855499 RCV000855500
Gastric cancer	Conflicting classifications of pathogenicity	rs117134265	RCV005897260
Intellectual disability	Uncertain significance	rs55651110, rs761159958	RCV005626391 RCV005626846
Malignant tumor of esophagus	Benign	rs34431454	RCV005888223
ROR2-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	rs756285939, rs767456619, rs753875871, rs755825636, rs141070315, rs764898597, rs371221714, rs200296562, rs141235720, rs559229993, rs150610444, rs56048121, rs142386294, rs202010959, rs2490106060 View all (15 more)	RCV004528460 RCV004531240 RCV004734227 RCV004543684 RCV004531426 RCV004531515 RCV004544344 RCV004529240 RCV004537514 RCV004536473 RCV004542985 RCV004535258 RCV004543050 RCV004535425 RCV004538980 RCV004536673 RCV004534413 RCV004530492 RCV004530491 RCV004544717 RCV004530493 RCV004530494 RCV004544718 RCV004545691 RCV004532167 RCV004543363 RCV004540048 RCV004541826 RCV004541844 RCV004535984
Short stature	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	rs1836916811, rs369717474, rs55651110, rs55798732, rs543118807, rs1825070299, rs370882834, rs56231927, rs188376581, rs117134265, rs1836888405	RCV001310269 RCV001310264 RCV001310270 RCV001310263 RCV001310268 RCV001310266 RCV001310267 RCV001310262 RCV001310265 RCV001310261 RCV001310271
Thyroid cancer, nonmedullary, 1	Benign; Conflicting classifications of pathogenicity	rs34431454, rs201991252	RCV005888224 RCV005908832

Show/Hide Text Mining Associations (73)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	27084312, 28465645
Adenoma	Associate	27440078
Alveolitis Extrinsic Allergic	Stimulate	32951408
Arthritis Rheumatoid	Associate	26359667
Brachydactyly	Associate	21693067, 36064339
Brachydactyly Type B1	Associate	10986040, 17668388, 36064339
Breast Neoplasms	Associate	25209439, 34911552, 36001375, 37029329
Carcinogenesis	Associate	22293903, 24158497
Carcinoma Adenosquamous	Associate	28465645
Carcinoma Hepatocellular	Inhibit	22493546
Carcinoma Hepatocellular	Associate	37814183
Carcinoma Non Small Cell Lung	Stimulate	26305508
Carcinoma Ovarian Epithelial	Associate	26515598
Carcinoma Ovarian Epithelial	Stimulate	28475014
Carcinoma Pancreatic Ductal	Associate	26259918, 34565024, 34763666
Carcinoma Renal Cell	Associate	20185829, 23893409, 33804101
Cell Transformation Neoplastic	Associate	26259918
Cleft Lip	Associate	22490406
Cleft Palate	Associate	22490406
Colonic Neoplasms	Associate	36704936
Colorectal Neoplasms	Associate	20591152, 29453334
Colorectal Neoplasms	Inhibit	27440078
COVID 19	Associate	35040478
Craniocerebral Trauma	Associate	35344616
Cushing's symphalangism	Associate	17668388
Endometrial Neoplasms	Associate	32170852, 32807831
Fetal akinesia syndrome X linked	Associate	31680123
Gliosis	Associate	35040478
Growth Disorders	Associate	35344616
HAIR AN syndrome	Associate	32565910
Heart Diseases	Associate	32951408
Heart Septal Defects Ventricular	Associate	10986040
Hemoglobin SC Disease	Associate	28465645
Hyperalgesia	Associate	35040478
Hyperostosis Diffuse Idiopathic Skeletal	Associate	37156767
Idiopathic Pulmonary Fibrosis	Stimulate	32951408
Inflammation	Stimulate	28536612
Inflammation	Associate	34565024
Kidney Neoplasms	Associate	23893409
Lung Neoplasms	Associate	18215320
Lymphatic Metastasis	Stimulate	25755786
Lymphatic Metastasis	Associate	26259918
Lymphoma	Associate	26608372
Medulloblastoma	Associate	23278988
Melanoma	Associate	19177143, 35260073, 36539575, 36622276
Mesomelic Limb Shortening and Bowing	Associate	35344616
Mesothelioma Malignant	Associate	29845703
Neoplasm Metastasis	Associate	22293903, 26259918, 28475014, 28618961, 32565910, 34911552, 35260073, 36001375, 36704936
Neoplasms	Associate	20185829, 20591152, 22992069, 23893409, 24158497, 25755786, 26259918, 26708384, 27440078, 28536612, 31878941, 32807831, 34565024, 34763666, 34911552 View all (5 more)
Neoplasms	Inhibit	22493546, 36622276
Neoplasms	Stimulate	27084312, 28475014, 34319035
Neurofibrosarcoma	Associate	34079083
Orofacial Cleft 4	Associate	22490406
Osteosarcoma	Associate	22293903, 28618961, 30742741
Ovarian Neoplasms	Stimulate	26515598
Ovarian Neoplasms	Associate	28475014, 28536612
Ovarian Neoplasms	Inhibit	31878941
Pancreatic Neoplasms	Associate	34763666
Prostatic Neoplasms	Inhibit	32415173
Prostatic Neoplasms	Associate	32484838, 37552603
Prostatitis	Inhibit	32415173
Robinow Syndrome	Associate	10986040, 21693067, 24932600, 31617258, 33048444, 35344616
Robinow syndrome autosomal recessive	Associate	31617258, 35344616
Skeletal Defects Genital Hypoplasia And Mental Retardation	Associate	35344616
Spondylocostal dysostosis autosomal recessive	Associate	10986040
Squamous Cell Carcinoma of Head and Neck	Associate	28559016
Stomach Neoplasms	Inhibit	24158497
Stomach Neoplasms	Associate	26708384, 34319035
Synostosis	Associate	17668388
Tetralogy of Fallot	Associate	37749917
Urethral Neoplasms	Associate	28427201
Uterine Cervical Neoplasms	Associate	25755786
von Hippel Lindau Disease	Associate	20185829

ROR2 (receptor tyrosine kinase like orphan receptor 2)