Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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

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

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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

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Transcription factor	Regulation	Reference
STAT3	Unknown	20686606

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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
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

	KEGG		Reactome
	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)

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	Source	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.
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	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ 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	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROR1-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

ROR1 (receptor tyrosine kinase like orphan receptor 1)