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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	120892
Gene name	Leucine rich repeat kinase 2
Gene symbol	LRRK2
Synonyms (NCBI Gene)	AURA17DARDARINPARK8RIPK7ROCO2
Chromosome	12
Chromosome location	12q12
Summary	This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain.

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SNP ID	Visualize variation	Clinical significance	Consequence
rs33939927	C>A,G,T	Likely-pathogenic, pathogenic	Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs33949390	G>A,C,T	Pathogenic, uncertain-significance, benign, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant, intron variant
rs33995463	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs34594498	C>T	Pathogenic, benign	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs34637584	G>A	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs34805604	A>G	Pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs34995376	G>A	Pathogenic	Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs35173587	G>A,T	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs35801418	A>G	Pathogenic	Missense variant, 3 prime UTR variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs35808389	A>G	Likely-benign, pathogenic	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs35870237	T>C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs74163686	A>C	Pathogenic	Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs78501232	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs201439315	A>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs281865052	A>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs281865054	G>A,T	Pathogenic	Genic downstream transcript variant, missense variant, stop gained, coding sequence variant
rs1555176408	C>T	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, genic upstream transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT007191	hsa-miR-205-5p	Luciferase reporter assayqRT-PCRWestern blot	23125283
MIRT017071	hsa-miR-335-5p	Microarray	18185580
MIRT438831	hsa-miR-582-5p	qRT-PCR	23295946
MIRT438822	hsa-miR-582-3p	qRT-PCR	23295946
MIRT438831	hsa-miR-582-5p	qRT-PCR	23295946
MIRT438822	hsa-miR-582-3p	qRT-PCR	23295946
MIRT1120935	hsa-miR-3150b-3p	CLIP-seq
MIRT1120936	hsa-miR-4496	CLIP-seq
MIRT1120937	hsa-miR-4699-3p	CLIP-seq
MIRT1120938	hsa-miR-4784	CLIP-seq
MIRT2034236	hsa-miR-511	CLIP-seq
MIRT2034237	hsa-miR-579	CLIP-seq
MIRT2034238	hsa-miR-664	CLIP-seq
MIRT2034239	hsa-miR-671-5p	CLIP-seq
MIRT2264682	hsa-miR-141	CLIP-seq
MIRT2264683	hsa-miR-200a	CLIP-seq
MIRT2264684	hsa-miR-3169	CLIP-seq
MIRT1120936	hsa-miR-4496	CLIP-seq
MIRT2264685	hsa-miR-4652-3p	CLIP-seq
MIRT2264686	hsa-miR-4677-3p	CLIP-seq
MIRT2264687	hsa-miR-4679	CLIP-seq
MIRT1120937	hsa-miR-4699-3p	CLIP-seq
MIRT2264688	hsa-miR-4724-5p	CLIP-seq
MIRT2264689	hsa-miR-4740-5p	CLIP-seq
MIRT2034237	hsa-miR-579	CLIP-seq
MIRT2563586	hsa-miR-380	CLIP-seq
MIRT2563587	hsa-miR-4495	CLIP-seq
MIRT2563588	hsa-miR-4536	CLIP-seq

267

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000149	Function	SNARE binding	IPI	21307259
GO:0000165	Process	MAPK cascade	IDA	17200152
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IMP	28720718
GO:0003779	Function	Actin binding	IPI	21307259
GO:0003924	Function	GTPase activity	IDA	21048939
GO:0003924	Function	GTPase activity	IEA
GO:0004672	Function	Protein kinase activity	IDA	16269541, 16321986, 17442267, 21850687, 25500533
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	EXP	26751287
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	17200152, 19576176, 21048939, 21850687, 22423108, 23949442, 27830463
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IMP	28720718
GO:0004674	Function	Protein serine/threonine kinase activity	TAS	22899650
GO:0004706	Function	JUN kinase kinase kinase activity	IBA
GO:0004706	Function	JUN kinase kinase kinase activity	IDA	19302196
GO:0004709	Function	MAP kinase kinase kinase activity	IDA	19302196
GO:0005096	Function	GTPase activator activity	IDA	17442267
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	16321986, 16352719, 17400507, 18445495, 19176810, 19196961, 19559761, 19625296, 19712061, 20067578, 20144646, 20173330, 20642453, 20671708, 21048939, 21159966, 21307259, 21370995, 21454543, 21658387, 21850687, 21983832, 22228096, 22303461, 22363216, 22612223, 22639965, 22899650, 229
GO:0005524	Function	ATP binding	IEA
GO:0005525	Function	GTP binding	IDA	16980962, 17260967, 17442267
GO:0005525	Function	GTP binding	IEA
GO:0005525	Function	GTP binding	TAS	22899650
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	16321986, 16352719, 19625296
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IMP	26014385
GO:0005739	Component	Mitochondrion	IDA	21850687
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005741	Component	Mitochondrial outer membrane	ISS
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	ISS
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	ISS
GO:0005768	Component	Endosome	IEA
GO:0005768	Component	Endosome	ISS
GO:0005783	Component	Endoplasmic reticulum	IDA	19640926
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IDA	23395371
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	ISS
GO:0005798	Component	Golgi-associated vesicle	IDA	24510904
GO:0005802	Component	Trans-Golgi network	IEA
GO:0005829	Component	Cytosol	IDA	21850687, 22736029, 22899650, 24403142
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	22899650
GO:0005886	Component	Plasma membrane	IEA
GO:0005902	Component	Microvillus	IDA	19640926
GO:0006468	Process	Protein phosphorylation	IMP	28720718
GO:0006606	Process	Protein import into nucleus	IEA
GO:0006897	Process	Endocytosis	IGI	24576675
GO:0006897	Process	Endocytosis	IMP	24576675
GO:0006914	Process	Autophagy	IEA
GO:0006979	Process	Response to oxidative stress	IMP	19692353
GO:0007005	Process	Mitochondrion organization	IMP	22764206
GO:0007029	Process	Endoplasmic reticulum organization	IBA
GO:0007029	Process	Endoplasmic reticulum organization	IEA
GO:0007029	Process	Endoplasmic reticulum organization	IMP	25201882
GO:0007030	Process	Golgi organization	IBA
GO:0007030	Process	Golgi organization	IEA
GO:0007030	Process	Golgi organization	IEA
GO:0007030	Process	Golgi organization	IMP	24510904
GO:0007040	Process	Lysosome organization	IMP	25416817
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007254	Process	JNK cascade	IDA	19302196
GO:0007266	Process	Rho protein signal transduction	IDA	25500533
GO:0007283	Process	Spermatogenesis	IEA
GO:0007528	Process	Neuromuscular junction development	IMP	21159966
GO:0008017	Function	Microtubule binding	TAS	24115276
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008104	Process	Intracellular protein localization	ISS
GO:0008340	Process	Determination of adult lifespan	IMP	19692353
GO:0009267	Process	Cellular response to starvation	IMP	24211199
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009968	Process	Negative regulation of signal transduction	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010506	Process	Regulation of autophagy	IMP	24211199
GO:0010508	Process	Positive regulation of autophagy	IBA
GO:0010508	Process	Positive regulation of autophagy	IEA
GO:0010508	Process	Positive regulation of autophagy	IMP	22012985
GO:0010508	Process	Positive regulation of autophagy	ISS
GO:0010955	Process	Negative regulation of protein processing	IDA	21370995
GO:0010977	Process	Negative regulation of neuron projection development	IEA
GO:0014041	Process	Regulation of neuron maturation	IMP	21168496
GO:0015631	Function	Tubulin binding	IDA	21159966
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016242	Process	Negative regulation of macroautophagy	IMP	19640926
GO:0016301	Function	Kinase activity	IDA	17114044
GO:0016301	Function	Kinase activity	IEA
GO:0016301	Function	Kinase activity	IMP	23916833
GO:0016740	Function	Transferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0017075	Function	Syntaxin-1 binding	IPI	21307259
GO:0019722	Process	Calcium-mediated signaling	IMP	25416817
GO:0021756	Process	Striatum development	IEA
GO:0021772	Process	Olfactory bulb development	IMP	21168496
GO:0022028	Process	Tangential migration from the subventricular zone to the olfactory bulb	IMP	21168496
GO:0030154	Process	Cell differentiation	IEA
GO:0030159	Function	Signaling receptor complex adaptor activity	IDA	22899650
GO:0030159	Function	Signaling receptor complex adaptor activity	IEA
GO:0030162	Process	Regulation of proteolysis	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030276	Function	Clathrin binding	IPI	21307259
GO:0030424	Component	Axon	IDA	17120249
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IBA
GO:0030425	Component	Dendrite	IDA	17120249
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0030426	Component	Growth cone	IDA	19625296
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031267	Function	Small GTPase binding	IEA
GO:0031267	Function	Small GTPase binding	IPI	21048939
GO:0031344	Process	Regulation of cell projection organization	IBA
GO:0031398	Process	Positive regulation of protein ubiquitination	IDA	16352719, 20173330
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031410	Component	Cytoplasmic vesicle	ISS
GO:0031647	Process	Regulation of protein stability	IMP	26014385
GO:0031965	Component	Nuclear membrane	IDA
GO:0031966	Component	Mitochondrial membrane	IDA	22736029
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	ISS
GO:0032473	Component	Cytoplasmic side of mitochondrial outer membrane	IDA	16269541
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IEA
GO:0032839	Component	Dendrite cytoplasm	IDA	21696411
GO:0034211	Function	GTP-dependent protein kinase activity	IDA	17260967
GO:0034211	Function	GTP-dependent protein kinase activity	IMP	17200152
GO:0034260	Process	Negative regulation of GTPase activity	IDA	22423108
GO:0034599	Process	Cellular response to oxidative stress	IMP	21362567, 21857923, 22764206
GO:0034614	Process	Cellular response to reactive oxygen species	IMP	24576675
GO:0035542	Process	Regulation of SNARE complex assembly	IMP	23949442
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035556	Process	Intracellular signal transduction	ISS
GO:0035564	Process	Regulation of kidney size	IEA
GO:0035564	Process	Regulation of kidney size	ISS
GO:0035640	Process	Exploration behavior	IEA
GO:0035640	Process	Exploration behavior	IMP	20659558
GO:0035641	Process	Locomotory exploration behavior	IEA
GO:0035751	Process	Regulation of lysosomal lumen pH	IMP	22012985
GO:0036064	Component	Ciliary basal body	IDA
GO:0036479	Function	Peroxidase inhibitor activity	IDA	21850687
GO:0039706	Function	Co-receptor binding	TAS	24115276
GO:0040012	Process	Regulation of locomotion	IMP	19692353
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042391	Process	Regulation of membrane potential	IMP	21159966
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	16321986, 18230735, 18397888, 19712061, 19733152, 20515039, 21073465, 22363216, 22952686, 23220480, 23241358, 24275654, 24591621, 24904275, 26824392, 27013965, 27357661, 38127736
GO:0042803	Function	Protein homodimerization activity	IPI	16321986
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IDA	19625296, 21048939
GO:0043025	Component	Neuronal cell body	IDA	21048939, 21696411
GO:0043025	Component	Neuronal cell body	IEA
GO:0043068	Process	Positive regulation of programmed cell death	IDA	17200152
GO:0043195	Component	Terminal bouton	IEA
GO:0043195	Component	Terminal bouton	TAS	21563316
GO:0043204	Component	Perikaryon	IDA	17120249
GO:0043204	Component	Perikaryon	IEA
GO:0043204	Component	Perikaryon	ISS
GO:0043410	Process	Positive regulation of MAPK cascade	IMP	21857923, 23628791
GO:0044325	Function	Transmembrane transporter binding	IPI	21370995, 22012985
GO:0044753	Component	Amphisome	IDA	19640926
GO:0044754	Component	Autolysosome	IDA	19640926
GO:0045121	Component	Membrane raft	IEA
GO:0045202	Component	Synapse	IEA
GO:0045335	Component	Phagocytic vesicle	IEA
GO:0045746	Process	Negative regulation of Notch signaling pathway	IEA
GO:0046039	Process	GTP metabolic process	IDA	21048939
GO:0046777	Process	Protein autophosphorylation	IDA	16269541, 16321986, 17200152, 17442267
GO:0046777	Process	Protein autophosphorylation	IMP	16980962
GO:0048312	Process	Intracellular distribution of mitochondria	IMP	21159966
GO:0048513	Process	Animal organ development	IEA
GO:0048812	Process	Neuron projection morphogenesis	IMP	17114044
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0051018	Function	Protein kinase A binding	IEA
GO:0051018	Function	Protein kinase A binding	IPI	24464040
GO:0051239	Process	Regulation of multicellular organismal process	IEA
GO:0051247	Process	Positive regulation of protein metabolic process	IEA
GO:0051646	Process	Mitochondrion localization	IMP	22764206
GO:0051900	Process	Regulation of mitochondrial depolarization	IMP	22736029
GO:0051966	Process	Regulation of synaptic transmission, glutamatergic	IEA
GO:0051966	Process	Regulation of synaptic transmission, glutamatergic	ISS
GO:0060070	Process	Canonical Wnt signaling pathway	TAS	24115276
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0060079	Process	Excitatory postsynaptic potential	ISS
GO:0060159	Process	Regulation of dopamine receptor signaling pathway	IBA
GO:0060159	Process	Regulation of dopamine receptor signaling pathway	IEA
GO:0060159	Process	Regulation of dopamine receptor signaling pathway	ISS
GO:0060161	Process	Positive regulation of dopamine receptor signaling pathway	IMP	20659558
GO:0060627	Process	Regulation of vesicle-mediated transport	IEA
GO:0060628	Process	Regulation of ER to Golgi vesicle-mediated transport	IEA
GO:0060628	Process	Regulation of ER to Golgi vesicle-mediated transport	ISS
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	IBA
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	IEA
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	TAS	22988876
GO:0061001	Process	Regulation of dendritic spine morphogenesis	IEA
GO:0061001	Process	Regulation of dendritic spine morphogenesis	IMP	21168496
GO:0061001	Process	Regulation of dendritic spine morphogenesis	ISS
GO:0070013	Component	Intracellular organelle lumen	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070585	Process	Protein localization to mitochondrion	TAS	24252804
GO:0070971	Component	Endoplasmic reticulum exit site	IDA	25201882
GO:0070971	Component	Endoplasmic reticulum exit site	IEA
GO:0070973	Process	Protein localization to endoplasmic reticulum exit site	IEA
GO:0070973	Process	Protein localization to endoplasmic reticulum exit site	IMP	25201882
GO:0071287	Process	Cellular response to manganese ion	IMP	23628791
GO:0090140	Process	Regulation of mitochondrial fission	TAS	24252804
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IGI	22899650
GO:0090394	Process	Negative regulation of excitatory postsynaptic potential	IEA
GO:0090394	Process	Negative regulation of excitatory postsynaptic potential	ISS
GO:0097487	Component	Multivesicular body, internal vesicle	IDA	19640926
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099400	Component	Caveola neck	IDA	19640926
GO:0099523	Component	Presynaptic cytosol	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0140058	Process	Neuron projection arborization	IEA
GO:0141161	Process	Regulation of cAMP/PKA signal transduction	IEA
GO:0141161	Process	Regulation of cAMP/PKA signal transduction	ISS
GO:1900242	Process	Regulation of synaptic vesicle endocytosis	IBA
GO:1900242	Process	Regulation of synaptic vesicle endocytosis	IEA
GO:1900244	Process	Positive regulation of synaptic vesicle endocytosis	IEA
GO:1901030	Process	Positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	IDA	21370995
GO:1902236	Process	Negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IMP	21857923
GO:1902499	Process	Positive regulation of protein autoubiquitination	IDA	16352719
GO:1902531	Process	Regulation of intracellular signal transduction	IEA
GO:1902692	Process	Regulation of neuroblast proliferation	IMP	21168496
GO:1902803	Process	Regulation of synaptic vesicle transport	IEA
GO:1902803	Process	Regulation of synaptic vesicle transport	ISS
GO:1902803	Process	Regulation of synaptic vesicle transport	TAS	21563316
GO:1902823	Process	Negative regulation of late endosome to lysosome transport	TAS	23949442
GO:1902902	Process	Negative regulation of autophagosome assembly	IMP	23916833
GO:1903215	Process	Negative regulation of protein targeting to mitochondrion	IDA	21370995
GO:1903217	Process	Negative regulation of protein processing involved in protein targeting to mitochondrion	IC	21370995
GO:1903351	Process	Cellular response to dopamine	IMP	23628791
GO:1903980	Process	Positive regulation of microglial cell activation	IEA
GO:1904644	Process	Cellular response to curcumin	IEA
GO:1904713	Function	Beta-catenin destruction complex binding	IEA
GO:1904713	Function	Beta-catenin destruction complex binding	NAS	24115276
GO:1904887	Process	Wnt signalosome assembly	IEA
GO:1904887	Process	Wnt signalosome assembly	IPI	22899650
GO:1904887	Process	Wnt signalosome assembly	TAS	24115276
GO:1905279	Process	Regulation of retrograde transport, endosome to Golgi	IGI	23395371
GO:1905289	Process	Regulation of CAMKK-AMPK signaling cascade	IMP	22012985
GO:1990904	Component	Ribonucleoprotein complex	IEA
GO:1990909	Component	Wnt signalosome	IDA	22899650
GO:1990909	Component	Wnt signalosome	IEA
GO:1990909	Component	Wnt signalosome	NAS	24115276
GO:2000172	Process	Regulation of branching morphogenesis of a nerve	IMP	21168496
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IMP	23949442
GO:2000377	Process	Regulation of reactive oxygen species metabolic process	IMP	24576675

MIM	HGNC	e!Ensembl
609007	18618	ENSG00000188906

Q5S007

Protein name

Leucine-rich repeat serine/threonine-protein kinase 2 (EC 2.7.11.1) (EC 3.6.5.-) (Dardarin)

Protein function

Serine/threonine-protein kinase which phosphorylates a broad range of proteins involved in multiple processes such as neuronal plasticity, innate immunity, autophagy, and vesicle trafficking (PubMed:17114044, PubMed:20949042, PubMed:21850687, Pu

PDB

2ZEJ , 3D6T , 5MY9 , 5MYC , 6DLO , 6DLP , 6OJE , 6OJF , 6VNO , 6VP6 , 6VP7 , 6XAF , 6XR4 , 7LHT , 7LHW , 7LI3 , 7LI4 , 7THY , 7THZ , 8FO2 , 8FO7 , 8FO8 , 8FO9 , 8SMC , 8TXZ , 8TYQ , 8TZB , 8TZC , 8TZE , 8TZF , 8TZG , 8TZH , 8U1B , 8U7H , 8U7L , 8U8A , 8U8B , 8VH4 , 8VH5 , 9C76 , 9CHO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13855	LRR_8	1011 → 1070	Leucine rich repeat	Repeat
PF12799	LRR_4	1245 → 1293	Leucine Rich repeats (2 copies)	Repeat
PF08477	Roc	1336 → 1456		Domain
PF16095	COR	1524 → 1740	C-terminal of Roc, COR, domain	Family
PF00069	Pkinase	1881 → 2132	Protein kinase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in pyramidal neurons in all cortical laminae of the visual cortex, in neurons of the substantia nigra pars compacta and caudate putamen (at protein level). Expressed in neutrophils (at protein level) (PubMed:29127255). Expres

Sequence

MASGSCQGCEEDEETLKKLIVRLNNVQEGKQIETLVQILEDLLVFTYSERASKLFQGKNI
HVPLLIVLDSYMRVASVQQVGWSLLCKLIEVCPGTMQSLMGPQDVGNDWEVLGVHQLILK
MLTVHNASVNLSVIGLKTLDLLLTSGKITLLILDEESDIFMLIFDAMHSFPANDEVQKLG
CKALHVLFERVSEEQLTEFVENKDYMILLSALTNFKDEEEIVLHVLHCLHSLAIPCNNVE
VLMSGNVRCYNIVVEAMKAFPMSERIQEVSCCLLHRLTLGNFFNILVLNEVHEFVVKAVQ
QYPENAALQISALSCLALLTETIFLNQDLEEKNENQENDDEGEEDKLFWLEACYKALTWH
RKNKHVQEAACWALNNLLMYQNSLHEKIGDEDGHFPAHREVMLSMLMHSSSKEVFQASAN
ALSTLLEQNVNFRKILLSKGIHLNVLELMQKHIHSPEVAESGCKMLNHLFEGSNTSLDIM
AAVVPKILTVMKRHETSLPVQLEALRAILHFIVPGMPEESREDTEFHHKLNMVKKQCFKN
DIHKLVLAALNRFIGNPGIQKCGLKVISSIVHFPDALEMLSLEGAMDSVLHTLQMYPDDQ
EIQCLGLSLIGYLITKKNVFIGTGHLLAKILVSSLYRFKDVAEIQTKGFQTILAILKLSA
SFSKLLVHHSFDLVIFHQMSSNIMEQKDQQFLNLCCKCFAKVAMDDYLKNVMLERACDQN
NSIMVECLLLLGADANQAKEGSSLICQVCEKESSPKLVELLLNSGSREQDVRKALTISIG
KGDSQIISLLLRRLALDVANNSICLGGFCIGKVEPSWLGPLFPDKTSNLRKQTNIASTLA
RMVIRYQMKSAVEEGTASGSDGNFSEDVLSKFDEWTFIPDSSMDSVFAQSDDLDSEGSEG
SFLVKKKSNSISVGEFYRDAVLQRCSPNLQRHSNSLGPIFDHEDLLKRKRKILSSDDSLR
SSKLQSHMRHSDSISSLASEREYITSLDLSANELRDIDALSQKCCISVHLEHLEKLELHQ
NALTSFPQQLCETLKSLTHLDLHSNKFTSFPSYLLKMSCIANLDVSRNDIGPSVVLDPTV
KCPTLKQFNLSYNQLSFVPENLTDVVEKLEQLILEGNKISGICSPLRLKELKILNLSKNH
ISSLSENFLEACPKVESFSARMNFLAAMPFLPPSMTILKLSQNKFSCIPEAILNLPHLRS
LDMSSNDIQYLPGPAHWKSLNLRELLFSHNQISILDLSEKAYLWSRVEKLHLSHNKLKEI
PPEIGCLENLTSLDVSYNLELRSFPNEMGKLSKIWDLPLDELHLNFDFKHIGCKAKDIIR
FLQQRLKKAVPYNRMKLMIVGNTGSGKTTLLQQLMKTKKSDLGMQSATVGIDVKDWPIQI
RDKRKRDLVLNVWDFAGREEFYSTHPHFMTQRALYLAVYDLSKGQAEVDAMKPWLFNIKA
RASSSPVILVGTHLDVSDEKQRKACMSKITKELLNKRGFPAIRDYHFVNATEESDALAKL
RKTIINESLNFKIRDQLVVGQLIPDCYVELEKIILSERKNVPIEFPVIDRKRLLQLVREN
QLQLDENELPHAVHFLNESGVLLHFQDPALQLSDLYFVEPKWLCKIMAQILTVKVEGCPK
HPKGIISRRDVEKFLSKKRKFPKNYMSQYFKLLEKFQIALPIGEEYLLVPSSLSDHRPVI
ELPHCENSEIIIRLYEMPYFPMGFWSRLINRLLEISPYMLSGRERALRPNRMYWRQGIYL
NWSPEAYCLVGSEVLDNHPESFLKITVPSCRKGCILLGQVVDHIDSLMEEWFPGLLEIDI
CGEGETLLKKWALYSFNDGEEHQKILLDDLMKKAEEGDLLVNPDQPRLTIPISQIAPDLI
LADLPRNIMLNNDELEFEQAPEFLLGDGSFGSVYRAAYEGEEVAVKIFNKHTSLRLLRQE
LVVLCHLHHPSLISLLAAGIRPRMLVMELASKGSLDRLLQQDKASLTRTLQHRIALHVAD
GLRYLHSAMIIYRDLKPHNVLLFTLYPNAAIIAKIADYGIAQYCCRMGIKTSEGTPGFRA
PEVARGNVIYNQQADVYSFGLLLYDILTTGGRIVEGLKFPNEFDELEIQGKLPDPVKEYG
CAPWPMVEKLIKQCLKENPQERPTSAQVFDILNSAELVCLTRRILLPKNVIVECMVATHH
NSRNASIWLGCGHTDRGQLSFLDLNTEGYTSEEVADSRILCLALVHLPVEKESWIVSGTQ
SGTLLVINTEDGKKRHTLEKMTDSVTCLYCNSFSKQSKQKNFLLVGTADGKLAIFEDKTV
KLKGAAPLKILNIGNVSTPLMCLSESTNSTERNVMWGGCGTKIFSFSNDFTIQKLIETRT
SQLFSYAAFSDSNIITVVVDTALYIAKQNSPVVEVWDKKTEKLCGLIDCVHFLREVMVKE
NKESKHKMSYSGRVKTLCLQKNTALWIGTGGGHILLLDLSTRRLIRVIYNFCNSVRVMMT
AQLGSLKNVMLVLGYNRKNTEGTQKQKEIQSCLTVWDINLPHEVQNLEKHIEVRKELAEK
MRRTSVE

Sequence length

2527

Interactions

View interactions

	KEGG		Reactome
	Parkinson disease Pathways of neurodegeneration - multiple diseases		PTK6 promotes HIF1A stabilization

1046

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant Parkinson disease 8	Pathogenic; Likely pathogenic	rs33939927, rs35801418, rs34805604, rs34637584, rs35870237, rs34995376	RCV000002013 RCV000002014 RCV000002015 RCV000002016 RCV000002017 RCV000002018 RCV000002019 RCV000804195
Interstitial pulmonary disease	Pathogenic	rs2499873877	RCV003482913
LRRK2-related disorder	Likely pathogenic; Pathogenic	rs34637584	RCV003407254
Parkinson disease	Likely pathogenic; Pathogenic	rs34637584	RCV003993728
Parkinson disease, late-onset	Likely pathogenic; Pathogenic	rs34637584, rs33939927	RCV001836691 RCV000210925
Young-onset Parkinson disease	Likely pathogenic; Pathogenic	rs34637584	RCV001195216

Show/Hide Unknown Diseases (24)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign; Conflicting classifications of pathogenicity	rs4423250, rs12426498, rs200515208, rs201559861	RCV005915130 RCV005917169 RCV005903235 RCV005913735
Brain atrophy	Uncertain significance	rs762890407	RCV000414857
Cervical cancer	Benign; Likely benign	rs575429866, rs200515208	RCV005902908 RCV005903236
Cholangiocarcinoma	Benign	rs4423250	RCV005915132
Clear cell carcinoma of kidney	Likely benign	rs146225678	RCV005927122
Early onset Alzheimer disease with behavioral disturbance	Conflicting classifications of pathogenicity	rs33949390	RCV000984891
Familial cancer of breast	Likely benign	rs200515208	RCV005903234
Frontotemporal dementia	Uncertain significance	rs762890407	RCV000414857
Gastric cancer	Benign; Uncertain significance	rs12426498, rs202157354	RCV005917170 RCV005925388
Klippel-Feil syndrome 1, autosomal dominant	Conflicting classifications of pathogenicity	rs33949390	RCV000984893
Leprosy, susceptibility to, 1	Uncertain risk allele; Benign	rs1427267, rs3761863	RCV002291814 RCV002291617
Lung cancer	Likely benign	rs200515208	RCV005903239
Malignant lymphoma, large B-cell, diffuse	Benign	rs7973058	RCV005917359
Malignant tumor of esophagus	Benign	rs4423250	RCV005915131
Melanoma	Benign; Likely benign	rs34869625	RCV005888861
Ovarian serous cystadenocarcinoma	Likely benign	rs200515208	RCV005903238
Parkinson Disease, Dominant	Benign; Likely benign	rs41286460	RCV000343337
Parkinsonian disorder	Uncertain significance; Benign; Likely benign	rs762890407, rs33995883	RCV000414857 RCV005627338
Rigidity	Uncertain significance	rs762890407	RCV000414857
Sarcoma	Conflicting classifications of pathogenicity; Likely benign	rs141221000, rs200515208	RCV005898646 RCV005903237
Spinocerebellar atrophy	Conflicting classifications of pathogenicity	rs33949390	RCV000984892
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs34869625	RCV005888860
Uterine corpus endometrial carcinoma	Benign	rs4423250	RCV005915133
Vascular parkinsonism	Benign; Likely benign	rs33995883	RCV005627338

Show/Hide Text Mining Associations (155)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	30793410
Acute cholinergic dysautonomia	Associate	29456161
Acute Lung Injury	Associate	38428793
Adenocarcinoma of Lung	Associate	32196072, 33483550, 36499051
Adenocarcinoma of Lung	Inhibit	33483550
Alcohol Related Disorders	Associate	32719233
Alzheimer Disease	Associate	18322396, 23421816, 24777780, 26394601, 29181857, 30917570, 31217489, 31405128, 31733655, 32941707, 36189598, 37406134, 40363838
Amyotrophic Lateral Sclerosis	Associate	31405128
Amyotrophic lateral sclerosis 1	Associate	36707813
Anosmia	Associate	25330404, 31678032, 35995594, 37461169
Anxiety	Associate	25809001, 38287861
Aphasia Conduction	Associate	20197701
Aphasia Primary Progressive	Associate	17914064
Arthritis Rheumatoid	Associate	17082220, 28586827, 31178673, 34877935
Astrocytoma	Associate	37371062
Atrial Fibrillation	Associate	30760287, 32383373
Autoimmune Diseases	Associate	28586827
Autonomic Nervous System Diseases	Associate	33771108
Bipolar Disorder	Associate	21611978
Breast Neoplasms	Associate	25401981, 29568677, 32931768, 32972043, 33658398, 37682166
Calcium Metabolism Disorders	Associate	26651604
Canavan Disease	Associate	29795570
Carcinogenesis	Associate	33483550
Carcinoma Non Small Cell Lung	Associate	26245297
Carcinoma Renal Cell	Associate	28352666, 37033923
Carcinoma Squamous Cell	Associate	34888137, 36499051
Cataract Nuclear Progressive	Associate	23075850
Charcot Marie Tooth Disease	Associate	33857832
Chromosome Aberrations	Associate	21799870, 21960214, 24488318, 24973808
Cocaine Related Disorders	Associate	31660902
Cognition Disorders	Associate	17914064, 20008657, 22194196, 24243757, 25401511, 25650144, 26346174, 27111571, 27297049, 31324919, 31505072, 33771108, 33881531, 35644844, 35995594, 37286171, 38287861 View all (2 more)
Cognitive Dysfunction	Associate	35995594
Colitis Ulcerative	Associate	28586827
Colorectal Neoplasms	Associate	31348549
Communicable Diseases	Associate	32359446
Compulsive Personality Disorder	Associate	31678032, 38266062
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	38266062
Constipation	Associate	25330404
Corticobasal Degeneration	Associate	17914064, 27709685
COVID 19	Associate	37033923
Craniocerebral Trauma	Associate	32310186
Crohn Disease	Associate	21152001, 21930071, 23967090, 26844546, 28352666, 28586827, 29321258, 29795570, 30055128, 32180132, 32339904, 33672296, 34313548, 36972292
Dementia	Associate	15541309, 19006185, 19680143, 20197701, 22194196, 27521182, 29859640, 30917570, 37330543, 40617169
Dementia	Inhibit	25650144
Depressive Disorder	Associate	21753163, 22154298, 25434972, 31678032
Diabetes Mellitus	Associate	36837510
Diabetic Neuropathies	Associate	15541309
Diarrhea 5 With Tufting Enteropathy Congenital	Associate	38428793
Diffuse Neurofibrillary Tangles with Calcification	Associate	19006185
DiGeorge Syndrome	Associate	24018986
Disease	Associate	19680143, 35749392
Disorders of Excessive Somnolence	Associate	25330404, 26177462, 33771108
Disruptive Impulse Control and Conduct Disorders	Stimulate	32073681
Drug Related Side Effects and Adverse Reactions	Associate	17409193, 20386743, 23628791, 24403142, 26899799, 29177506, 30645642, 35266954
Duane Retraction Syndrome	Associate	18182054, 21454543
Dyskinesia Drug Induced	Associate	18539534, 23938256, 26831335
Dystonia	Associate	22154298
Dystonic Disorders	Associate	20074637, 20386743, 23913756, 31813991, 38640169
Echogenic Bowel	Associate	21312285
Essential Tremor	Associate	19527940, 25761573, 29593234
Facial Asymmetry	Associate	27430880, 29480219
Frontotemporal Dementia	Associate	20197701, 31324919, 31405128
Gaucher Disease	Associate	29795570, 33881531
Genetic Diseases Inborn	Associate	18486522, 18804399, 20127702, 24510904
Genetic Predisposition to Disease	Associate	18211709
Glioma	Stimulate	34929286
Headache Disorders	Associate	33771108
Heart Diseases	Associate	29253086, 31444591, 32318850, 38428793
Heredodegenerative Disorders Nervous System	Associate	30235682
Hypersensitivity Immediate	Associate	31308240
Hypokinesia	Associate	27111571, 37301871
Hypoxia Brain	Associate	37301871
Immune System Diseases	Associate	32339904, 32359446, 33672296
Infections	Associate	30915830
Inflammation	Associate	23651603, 23938344, 26844546, 27220776, 27863501, 30645642, 30915830, 32375873, 33057020, 33672296, 34313548, 34929286, 35929078, 37339976, 39684585
Inflammation	Inhibit	32180132
Inflammatory Bowel Diseases	Associate	30223621, 37698513
Lafora Disease	Associate	35962561
Language Disorders	Associate	35644844
Leprosy	Associate	20018961, 23967090, 24015287, 26844546, 30055128, 31308240, 32339904, 32433683, 33672296, 34313548, 36972292
Leprosy Paucibacillary	Associate	20018961
Leukemia	Associate	31348549
Leukemia Monocytic Acute	Associate	24479685
Lewy Body Disease	Associate	15541309, 17971075, 18322396, 19680143, 20127702, 20197701, 22194196, 23747310, 24777780, 25401511, 27521182, 30055128, 31405128, 31733655, 32232888, 32719233, 35962561 View all (2 more)
Lung Diseases	Associate	38428793
Lung Neoplasms	Stimulate	32972043
Lupus Erythematosus Systemic	Associate	28099919
Lymphoma T Cell Peripheral	Associate	30520026
Lysosomal Storage Diseases	Associate	33481347, 35805938
Machado Joseph Disease	Associate	22023810
Malformations of Cortical Development Group I	Stimulate	21370995
Melanoma	Associate	37629650
Melanoma Cutaneous Malignant	Associate	34929286
Mental Disorders	Associate	25330404
Mesothelioma	Associate	34008015
Mesothelioma Malignant	Associate	34008015
Metabolic Diseases	Associate	37371062
Migraine with Aura	Associate	37884687
Mitochondrial Diseases	Associate	22764206, 24148854, 24251413, 25446991, 26399642, 29884186, 36179692, 36208866, 37445652, 39684585
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport	Associate	30982740
Mitochondrial Phosphate Carrier Deficiency	Associate	35929078
Mood Disorders	Associate	21611978, 33771108
Motor Disorders	Associate	38266062
Movement Disorders	Associate	28639421, 31505072, 32073681, 33539026, 33836114, 35049090, 38266062
Multiple System Atrophy	Associate	20197701, 25378673, 27374978
Muscle Rigidity	Associate	27111571, 37301871
Myopathy with Giant Abnormal Mitochondria	Associate	17409193, 27023913, 37947628
Narcolepsy	Associate	26177462
Neoplasms	Associate	20818610, 21220347, 25401981, 26245297, 29568677, 30055128, 31348549, 32722212, 32931768, 33483550, 34008015, 34313548, 34929286
Nerve Degeneration	Associate	15541309, 16352719, 17210620, 17409193, 18182054, 19176810, 20197701, 20386743, 20729864, 22363216, 23935950, 27832104, 30333048, 30915830, 30917570, 33057020, 34033775 View all (2 more)
Nervous System Diseases	Associate	17210620, 19029519, 23472874, 32846140, 34114604
Neurodegenerative Diseases	Associate	15541309, 17914064, 19176810, 19680143, 19822953, 20197701, 20729864, 21712955, 22899650, 24403142, 25118928, 25175602, 27341347, 27939437, 29859640 View all (8 more)
Neuroinflammatory Diseases	Associate	31570108, 32318850, 35732154
Neurologic Manifestations	Associate	24398657, 26651604
Neurotoxicity Syndromes	Associate	29166931, 30645642, 32846140, 33057020
Obesity	Associate	36837510
Olfaction Disorders	Associate	21753159, 27699718
Ovarian Neoplasms	Associate	37788370
Parkinson Disease	Associate	15541309, 15726496, 16269541, 16272257, 16352719, 16467219, 16614029, 16960813, 17021400, 17187665, 17210620, 17230458, 17409193, 17614198, 17846883 View all (438 more)
Parkinson Disease	Stimulate	27297049, 29263232, 35173238
Parkinson Disease Familial Type 1	Associate	18211709
Parkinson Disease Secondary	Associate	15541309, 15726496, 17914064, 18337586, 18650931, 18675914, 18804399, 18952485, 20127702, 20144646, 20669305, 23628791, 23938256, 24816003, 24842889 View all (15 more)
Parkinsonian Disorders	Associate	14691730, 15541309, 15726496, 16352719, 18952485, 20144646, 20182943, 21885347, 22194196, 22623900, 22773119, 36054306, 39705401
Parkinsonism Dystonia Infantile	Associate	31678032
Plaque Amyloid	Associate	30595548
Postural Orthostatic Tachycardia Syndrome	Associate	20008657, 24243757, 25434972, 37837096
Prediabetic State	Associate	32518334
Primary Dysautonomias	Associate	33918221
Proteostasis Deficiencies	Associate	28131822
Psychotic Disorders	Associate	33918221
Pulmonary Arterial Hypertension	Associate	36072642
REM Sleep Behavior Disorder	Associate	26177462, 26366513, 31678032, 32073681, 33527742
Rufous oculocutaneous albinism	Associate	39705401
Scleroderma Systemic	Associate	31178673
Shock	Associate	30629163
Shy Drager Syndrome	Associate	25330404
Signs and Symptoms	Associate	25330404
Skin Diseases Vesiculobullous	Associate	20386743
Skin Neoplasms	Associate	29568677, 31348549
Sleep Deprivation	Associate	26177462
Sleep Initiation and Maintenance Disorders	Associate	26177462
Sleep Wake Disorders	Associate	25330404, 26177462
Small Cell Lung Carcinoma	Associate	33880365
Small Fiber Neuropathy	Associate	33527742
Stroke	Associate	30760287
Supranuclear Palsy Progressive	Associate	15541309, 20197701, 27709685, 33341150, 35842134
Synucleinopathies	Associate	31211166, 33527742
Tay Sachs Disease	Associate	29795570
Thyroid Cancer Papillary	Associate	21220347, 36465624
Thyroid Neoplasms	Stimulate	31180559
Tics	Associate	30248062
tinea nigra	Associate	33771108
Tooth Loss	Associate	27023913
Tremor	Associate	20008657, 21753163, 27111571, 36528012
Visceral myopathy familial external ophthalmoplegia	Associate	33057100

LRRK2 (leucine rich repeat kinase 2)