Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4920
Gene name Gene Name - the full gene name approved by the HGNC.
Receptor tyrosine kinase like orphan receptor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ROR2
Synonyms (NCBI Gene) Gene synonyms aliases
BDB, BDB1, NTRKR2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
BDB1
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q22.31
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001502 Process Cartilage condensation IEA
GO:0001756 Process Somitogenesis IEA
GO:0004714 Function Transmembrane receptor protein tyrosine kinase activity IBA 21873635
GO:0005109 Function Frizzled binding IEA
GO:0005515 Function Protein binding IPI 22939624, 31515488, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602337 10257 ENSG00000169071
Protein
UniProt ID 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
RIQDLDTTDTGYYQCVATNGMKTITATGVLFV
RLGPTHSPNHNFQDDYHEDGFCQPYRGI
ACARFIGNRTIYVDSLQMQGEIENRITAAFTMIGTSTHLSDQCSQFAIPSFCHFVFPLCD
ARSRTPKPRELCRDECEVLESDLCRQEYTIARSNPLILMRLQLPKCEALPMPES
PDAANC
MRIGIPAERLGRYHQCYNGSGMDYRGTASTTKSGHQCQPWALQHPHSHHLSSTDFPELGG
GHAYCRNPGGQMEGPWCFTQNKNVRMELCDVPSC
SPRDSSKMGILYILVPSIAIPLVIAC
LFFLVCMCRNKQKASASTPQRRQLMASPSQDMEMPLINQHKQAKLKEISLSAVRFMEELG
EDRFGKVYKGHLFGPAPGEQTQAVAIKTLKDKAEGPLREEFRHEAMLRARLQHPNVVCLL
GVVTKDQPLSMIFSYCSHGDLHEFLVMRSPHSDVGSTDDDRTVKSALEPPDFVHLVAQIA
AGMEYLSSHHVVHKDLATRNVLVYDKLNVKISDLGLFREVYAADYYKLLGNSLLPIRWMA
PEAIMYGKFSIDSDIWSYGVVLWEVFSYGLQPYCGYSNQDVVEMIRNRQVLPCPDDCPAW
VYALMIECWNEFPSRRPRFKDIHSRL
RAWGNLSNYNSSAQTSGASNTTQTSSLSTSPVSN
VSNARYVGPKQKAPPFPQPQFIPMKGQIRPMVPPPQLYVPVNGYQPVPAYGAYLPNFYPV
QIPMQMAPQQVPPQMVPKPSSHHSGSGSTSTGYVTTAPSNTSMADRAALLSEGADDTQNA
PEDGAQSTVQEAEEEEEGSVPETELLGDCDTLQVDEAQVQLEA
Sequence length 943
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Wnt signaling pathway   WNT5A-dependent internalization of FZD2, FZD5 and ROR2
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anonychia ANONYCHIA rs74315420, rs74315421, rs74315422, rs74315423, rs387907026, rs387907027, rs387907028, rs780261665, rs775644973, rs370554150
Arthrogryposis multiplex congenita Arthrogryposis rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835
View all (138 more)
31680123
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Brachydactyly Brachydactyly, Brachydactyly syndrome type B, BRACHYDACTYLY, TYPE B1, Brachydactyly type B1 rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
10986040, 10700182, 19461659, 19533773
Unknown
Disease term Disease name Evidence References Source
Otitis media Chronic otitis media ClinVar
Ptosis Blepharoptosis, Ptosis ClinVar
Diabetes Diabetes GWAS
Gout Gout GWAS
Associations from Text Mining
Disease Name Relationship Type References
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