ROR1 (receptor tyrosine kinase like orphan receptor 1)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4919
Gene name Gene Name - the full gene name approved by the HGNC.
Receptor tyrosine kinase like orphan receptor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ROR1
Synonyms (NCBI Gene) Gene synonyms aliases
NTRKR1, dJ537F10.1
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p31.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
STAT3 Unknown 20686606
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602336 10256 ENSG00000185483
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
LDTTDTGYFQCVATNGKEVVSSTGVLFVKFGPPPTASPGYSDEYEEDGFCQPYRGIACAR
FIGNRTVYMESLHMQGEIENQITAAFTMIGTSSHLSDKCSQFAIPSLCHYAFPYCDETSS
VPKPRDLCRDECEILENVLCQTEYIFARSNPMILMRLKLPNCEDLPQPESPEAANCIRIG
IPMADPINKNHKCYNSTGVDYRGTVSVTKSGRQCQPWNSQYPHTHTFTALRFPELNGGHS
YCRNPGNQKEAPWCFTLDENFKSDLCDIPACDSKDSKEKNKMEILYILVPSVAIPLAIAL
LFFFICVCRNNQKSSSAPVQRQPKHVRGQNVEMSMLNAYKPKSKAKELPLSAVRFMEELG
ECAFGKIYKGHLYLPGMDHAQLVAIKTLKDYNNPQQWTEFQQEASLMAELHHPNIVCLLG
AVTQEQPVCMLFEYINQGDLHEFLIMRSPHSDVGCSSDEDGTVKSSLDHGDFLHIAIQIA
AGMEYLSSHFFVHKDLAARNILIGEQLHVKISDLGLSREIYSADYYRVQSKSLLPIRWMP
PEAIMYGKFSSDSDIWSFGVVLWEIFSFGLQPYYGFSNQEVIEMVRKRQLLPCSEDCPPR
MYSLMTECWNEIPSRRPRFKDIHVRLRSWEGLSSHTSSTTPSGGNATTQTTSLSASPVSN
LSNPRYPNYMFPSQGITPQGQIAGFIGPPIPQNQRFIPINGYPIPPGYAAFPAAHYQPTG
PPRVIQHCPPPKSRSPSSASGSTSTGHVTSLPSSGSNQEANIPLLPHMSIPNHPGGMGIT
VFGNKSQKPYKIDSKQASLLGDANIHGHTESMISAEL
Sequence length 937
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Wnt signaling pathway   WNT5A-dependent internalization of FZD2, FZD5 and ROR2
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Deafness hearing loss, autosomal recessive 108, hearing loss, autosomal recessive N/A N/A GenCC
Hearing Loss Hearing loss, autosomal recessive 108 N/A N/A ClinVar
Show/Hide Text Mining Associations (61)
Associations from Text Mining Disease 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