Gene Gene information from NCBI Gene database.
Entrez ID 4919
Gene name Receptor tyrosine kinase like orphan receptor 1
Gene symbol ROR1
Synonyms (NCBI Gene)
NTRKR1dJ537F10.1
Chromosome 1
Chromosome location 1p31.3
Summary This gene encodes a receptor tyrosine kinase-like orphan receptor that modulates neurite growth in the central nervous system. The encoded protein is a glycosylated type I membrane protein that belongs to the ROR subfamily of cell surface receptors. It is
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1553163562 G>C Pathogenic Genic downstream transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
98
miRTarBase ID miRNA Experiments Reference
MIRT022495 hsa-miR-124-3p Microarray 18668037
MIRT025759 hsa-miR-7-5p Microarray 19073608
MIRT027572 hsa-miR-98-5p Microarray 19088304
MIRT031179 hsa-miR-19b-3p Sequencing 20371350
MIRT610482 hsa-miR-3190-5p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
STAT3 Unknown 20686606
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001725 Component Stress fiber IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004714 Function Transmembrane receptor protein tyrosine kinase activity IBA
GO:0004714 Function Transmembrane receptor protein tyrosine kinase activity TAS 8875995
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602336 10256 ENSG00000185483
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q01973
Protein name Inactive tyrosine-protein kinase transmembrane receptor ROR1 (Neurotrophic tyrosine kinase, receptor-related 1)
Protein function Has very low kinase activity in vitro and is unlikely to function as a tyrosine kinase in vivo (PubMed:25029443). Receptor for ligand WNT5A which activate downstream NFkB signaling pathway and may result in the inhibition of WNT3A-mediated signa
PDB 5Z55 , 6BA5 , 6BAN , 6TU9 , 7TNG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07679 I-set 58 148 Immunoglobulin I-set domain Domain
PF01392 Fz 170 290 Fz domain Domain
PF00051 Kringle 313 391 Kringle domain Domain
PF07714 PK_Tyr_Ser-Thr 473 746 Protein tyrosine and serine/threonine kinase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed strongly in human heart, lung and kidney, but weakly in the CNS. Isoform Short is strongly expressed in fetal and adult CNS and in a variety of human cancers, including those originating from CNS or PNS neuroectoderm.
Sequence
MHRPRRRGTRPPLLALLAALLLAARGAAAQETELSVSAELVPTSSWNISSELNKDSYLTL
DEPMNNITTSLGQTAELHCKVSGNPPPTIRWFKNDAPVVQEPRRLSFRSTIYGSRLRIRN
LDTTDTGYFQCVATNGKEVVSSTGVLFV
KFGPPPTASPGYSDEYEEDGFCQPYRGIACAR
FIGNRTVYMESLHMQGEIENQITAAFTMIGTSSHLSDKCSQFAIPSLCHYAFPYCDETSS
VPKPRDLCRDECEILENVLCQTEYIFARSNPMILMRLKLPNCEDLPQPES
PEAANCIRIG
IPMADPINKNHKCYNSTGVDYRGTVSVTKSGRQCQPWNSQYPHTHTFTALRFPELNGGHS
YCRNPGNQKEAPWCFTLDENFKSDLCDIPAC
DSKDSKEKNKMEILYILVPSVAIPLAIAL
LFFFICVCRNNQKSSSAPVQRQPKHVRGQNVEMSMLNAYKPKSKAKELPLSAVRFMEELG
ECAFGKIYKGHLYLPGMDHAQLVAIKTLKDYNNPQQWTEFQQEASLMAELHHPNIVCLLG
AVTQEQPVCMLFEYINQGDLHEFLIMRSPHSDVGCSSDEDGTVKSSLDHGDFLHIAIQIA
AGMEYLSSHFFVHKDLAARNILIGEQLHVKISDLGLSREIYSADYYRVQSKSLLPIRWMP
PEAIMYGKFSSDSDIWSFGVVLWEIFSFGLQPYYGFSNQEVIEMVRKRQLLPCSEDCPPR
MYSLMTECWNEIPSRRPRFKDIHVRL
RSWEGLSSHTSSTTPSGGNATTQTTSLSASPVSN
LSNPRYPNYMFPSQGITPQGQIAGFIGPPIPQNQRFIPINGYPIPPGYAAFPAAHYQPTG
PPRVIQHCPPPKSRSPSSASGSTSTGHVTSLPSSGSNQEANIPLLPHMSIPNHPGGMGIT
VFGNKSQKPYKIDSKQASLLGDANIHGHTESMISAEL
Sequence length 937
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
21
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Uncertain significance rs201506341 RCV005930594
Hearing loss, autosomal recessive 108 Uncertain significance; Benign; Conflicting classifications of pathogenicity; no classifications from unflagged records rs760355948, rs1772626, rs7527017, rs6668545, rs2762833, rs137874089, rs777805288, rs1553163562 RCV001329353
RCV001796628
RCV001796647
RCV001796673
RCV001794491
RCV003333773
RCV002505823
RCV000504579
ROR1-related disorder Likely benign; Benign rs113606454, rs147481344, rs139114952, rs146764088, rs201257776, rs748338604, rs373461066, rs760104769, rs200186767, rs35586842, rs80063252, rs41302752 RCV003923751
RCV003926289
RCV003943584
RCV003961241
RCV003898666
RCV003939068
RCV003909004
RCV003899774
RCV003952234
RCV003907975
RCV003910383
RCV003918625
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 22439932, 23593420, 25978653, 26661061, 26725982, 27830754, 27852699, 31983094, 33172431, 33370472
Adenosarcoma Associate 33370472
Bipolar Disorder Associate 19488044, 21494683
Blast Crisis Associate 33836616
Breast Neoplasms Associate 23593420, 31085100, 32020017, 37029329
Calcinosis Cutis Associate 26739507
Carcinogenesis Associate 36359790
Carcinoma Associate 27852699
Carcinoma Hepatocellular Associate 30637779, 31746401
Carcinoma Ovarian Epithelial Associate 26515598