Gene Gene information from NCBI Gene database. Download as csv Download as pdf
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

SNP ID	Visualize variation	Clinical significance	Consequence
rs1553163562	G>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant

98 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
MIRT610481	hsa-miR-3176	HITS-CLIP	23824327
MIRT610480	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT610482	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT610481	hsa-miR-3176	HITS-CLIP	23824327
MIRT610480	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT610482	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT610481	hsa-miR-3176	HITS-CLIP	23824327
MIRT610480	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT610482	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT610481	hsa-miR-3176	HITS-CLIP	23824327
MIRT610480	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT610482	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT610481	hsa-miR-3176	HITS-CLIP	23824327
MIRT610480	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT610482	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT610481	hsa-miR-3176	HITS-CLIP	23824327
MIRT610480	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT610482	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT610481	hsa-miR-3176	HITS-CLIP	23824327
MIRT610480	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT610482	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT610481	hsa-miR-3176	HITS-CLIP	23824327
MIRT610480	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT610482	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT610481	hsa-miR-3176	HITS-CLIP	23824327
MIRT610480	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT610482	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT610481	hsa-miR-3176	HITS-CLIP	23824327
MIRT610480	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT610482	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT610481	hsa-miR-3176	HITS-CLIP	23824327
MIRT610480	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT610482	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT610481	hsa-miR-3176	HITS-CLIP	23824327
MIRT610480	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT732071	hsa-miR-27b-3p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	26576539
MIRT732071	hsa-miR-27b-3p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	26576539
MIRT610481	hsa-miR-3176	HITS-CLIP	28735896
MIRT610482	hsa-miR-3190-5p	HITS-CLIP	28735896
MIRT610480	hsa-miR-3922-3p	HITS-CLIP	28735896
MIRT610482	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT610481	hsa-miR-3176	HITS-CLIP	23824327
MIRT610480	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT610482	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT610481	hsa-miR-3176	HITS-CLIP	23824327
MIRT610480	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT610482	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT610481	hsa-miR-3176	HITS-CLIP	23824327
MIRT610480	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT610482	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT610481	hsa-miR-3176	HITS-CLIP	23824327
MIRT610480	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT610482	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT610481	hsa-miR-3176	HITS-CLIP	23824327
MIRT610480	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT610482	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT610481	hsa-miR-3176	HITS-CLIP	23824327
MIRT610480	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT610482	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT610481	hsa-miR-3176	HITS-CLIP	23824327
MIRT610480	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT610482	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT610481	hsa-miR-3176	HITS-CLIP	23824327
MIRT610480	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT610482	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT610481	hsa-miR-3176	HITS-CLIP	23824327
MIRT610480	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT610482	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT610481	hsa-miR-3176	HITS-CLIP	23824327
MIRT610480	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT610482	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT610481	hsa-miR-3176	HITS-CLIP	23824327
MIRT610480	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT610482	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT610481	hsa-miR-3176	HITS-CLIP	23824327
MIRT610480	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT1315125	hsa-miR-5095	CLIP-seq
MIRT1315126	hsa-miR-552	CLIP-seq
MIRT1315127	hsa-miR-128	CLIP-seq
MIRT1315128	hsa-miR-3617	CLIP-seq
MIRT1315129	hsa-miR-4738-3p	CLIP-seq
MIRT1315130	hsa-miR-641	CLIP-seq
MIRT2318156	hsa-miR-1254	CLIP-seq
MIRT2318157	hsa-miR-1273f	CLIP-seq
MIRT2318158	hsa-miR-1289	CLIP-seq
MIRT2318159	hsa-miR-3116	CLIP-seq
MIRT2318160	hsa-miR-3198	CLIP-seq
MIRT2318161	hsa-miR-4294	CLIP-seq
MIRT2318162	hsa-miR-4309	CLIP-seq
MIRT2318163	hsa-miR-4423-5p	CLIP-seq
MIRT2318164	hsa-miR-4534	CLIP-seq
MIRT2318165	hsa-miR-4781-3p	CLIP-seq
MIRT2318166	hsa-miR-661	CLIP-seq

Transcription factor	Regulation	Reference
STAT3	Unknown	20686606

41 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
GO:0005515	Function	Protein binding	IPI	22439932
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	TAS	8875995
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	27162350
GO:0005886	Component	Plasma membrane	TAS	1334494, 8875995
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IBA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	TAS	1334494
GO:0007605	Process	Sensory perception of sound	IMP	27162350
GO:0008283	Process	Cell population proliferation	IDA	36949068
GO:0008283	Process	Cell population proliferation	IDA	36949068
GO:0009986	Component	Cell surface	IEA
GO:0014002	Process	Astrocyte development	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	18287027
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0038023	Function	Signaling receptor activity	IDA	36949068
GO:0042813	Function	Wnt receptor activity	IMP	27162350
GO:0042995	Component	Cell projection	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IBA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IMP	27162350
GO:0043235	Component	Receptor complex	IBA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043679	Component	Axon terminus	IEA
GO:0043679	Component	Axon terminus	ISS
GO:0048839	Process	Inner ear development	IEA
GO:0048839	Process	Inner ear development	ISS
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IMP	27162350

MIM	HGNC	e!Ensembl
602336	10256	ENSG00000185483

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
PF00051	Kringle	313 → 391	Kringle domain	Domain
PF01392	Fz	170 → 290	Fz domain	Domain
PF07679	I-set	58 → 148	Immunoglobulin I-set 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

KEGG Pathway	Reactome Pathway
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)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (12)
Adrenocortical carcinoma, hereditary	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	28114269	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 108	—	Disgenet, HPO Disgenet, HPO	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS, AUTOSOMAL RECESSIVE	—	GWAS catalog	27162350	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing loss, autosomal recessive 108	Uncertain significance; Benign; Conflicting classifications of pathogenicity; no classifications from unflagged records	ClinVar ClinVar, GWAS catalog	27162350	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG ADENOCARCINOMA	—	GWAS catalog	40341939	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nonsyndromic genetic hearing loss	—	ClinGen	ClinGen report	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	26098869	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROR1-related disorder	Likely benign; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
GRAP	3	["Isolated sensorineural deafness","Deafness","nonsyndromic genetic hearing loss"]	[]	6	["Disgenet (Isolated sensorineural deafness)","Disgenet (Deafness)","HPO (Deafness)","GWAS catalog (Hearing loss)","ClinVar (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
MPZL2	3	["Isolated sensorineural deafness","Deafness","nonsyndromic genetic hearing loss"]	[]	5	["Disgenet (Isolated sensorineural deafness)","Disgenet (Deafness)","HPO (Deafness)","ClinVar (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
CLRN2	3	["Isolated sensorineural deafness","Deafness","nonsyndromic genetic hearing loss"]	[]	6	["Disgenet (Isolated sensorineural deafness)","Disgenet (Deafness)","HPO (Deafness)","GWAS catalog (Hearing loss)","ClinVar (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
EPS8L2	3	["Isolated sensorineural deafness","Deafness","nonsyndromic genetic hearing loss"]	[]	6	["Disgenet (Isolated sensorineural deafness)","Disgenet (Deafness)","HPO (Deafness)","GWAS catalog (Hearing loss)","ClinVar (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
BDP1	3	["Isolated sensorineural deafness","Deafness","nonsyndromic genetic hearing loss"]	[]	5	["Disgenet (Isolated sensorineural deafness)","Disgenet (Deafness)","HPO (Deafness)","ClinVar (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]

ROR1 (receptor tyrosine kinase like orphan receptor 1)

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