LRRK2 (leucine rich repeat kinase 2)

Gene

• Entrez ID: 120892
• Gene name: Leucine rich repeat kinase 2
• Gene symbol: LRRK2
• Synonyms: AURA17, DARDARIN, PARK8, RIPK7, ROCO2
• 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.

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT007191	hsa-miR-205-5p	Luciferase reporter assay, qRT-PCR, Western 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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000149	Function	SNARE binding	IBA	21873635
GO:0000149	Function	SNARE binding	IPI	21307259
GO:0000165	Process	MAPK cascade	IDA	17200152
GO:0000186	Process	Activation of MAPKK activity	IDA	19302196
GO:0000187	Process	Activation of MAPK activity	IMP	21857923
GO:0000287	Function	Magnesium ion binding	IMP	28720718
GO:0001933	Process	Negative regulation of protein phosphorylation	ISS
GO:0001934	Process	Positive regulation of protein phosphorylation	IDA	22012985
GO:0001934	Process	Positive regulation of protein phosphorylation	IMP	20659558
GO:0003779	Function	Actin binding	IPI	21307259
GO:0003924	Function	GTPase activity	IDA	21048939
GO:0004672	Function	Protein kinase activity	IDA	16269541, 16321986, 17442267, 21850687, 25500533
GO:0004674	Function	Protein serine/threonine kinase activity	IBA	21873635
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	17200152, 19576176, 21048939, 21850687, 22423108, 23949442
GO:0004674	Function	Protein serine/threonine kinase activity	IMP	28720718
GO:0004674	Function	Protein serine/threonine kinase activity	TAS	22899650
GO:0004708	Function	MAP kinase kinase activity	IDA	19302196
GO:0004722	Function	Protein serine/threonine phosphatase activity	IBA	21873635
GO:0005096	Function	GTPase activator activity	IDA	17442267
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	TAS	22899650
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	16321986, 16352719, 19625296
GO:0005737	Component	Cytoplasm	IMP	26014385
GO:0005739	Component	Mitochondrion	IDA	21850687
GO:0005741	Component	Mitochondrial outer membrane	IBA	21873635
GO:0005741	Component	Mitochondrial outer membrane	ISS
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005759	Component	Mitochondrial matrix	ISS
GO:0005764	Component	Lysosome	IBA	21873635
GO:0005764	Component	Lysosome	ISS
GO:0005768	Component	Endosome	IBA	21873635
GO:0005768	Component	Endosome	ISS
GO:0005783	Component	Endoplasmic reticulum	IDA	19640926
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IBA	21873635
GO:0005794	Component	Golgi apparatus	IDA	23395371
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	IBA	21873635
GO:0005829	Component	Cytosol	IDA	21850687, 22736029, 22899650, 24403142
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	22899650
GO:0005902	Component	Microvillus	IDA	19640926
GO:0006468	Process	Protein phosphorylation	IBA	21873635
GO:0006468	Process	Protein phosphorylation	IDA	25500533
GO:0006468	Process	Protein phosphorylation	IMP	23628791, 28720718
GO:0006470	Process	Protein dephosphorylation	IEA
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	IBA	21873635
GO:0007005	Process	Mitochondrion organization	IMP	22764206
GO:0007029	Process	Endoplasmic reticulum organization	IBA	21873635
GO:0007029	Process	Endoplasmic reticulum organization	IMP	25201882
GO:0007030	Process	Golgi organization	IBA	21873635
GO:0007030	Process	Golgi organization	IMP	24510904
GO:0007040	Process	Lysosome organization	IMP	25416817
GO:0007165	Process	Signal transduction	IBA	21873635
GO:0007283	Process	Spermatogenesis	IEA
GO:0007528	Process	Neuromuscular junction development	IMP	21159966
GO:0008017	Function	Microtubule binding	TAS	24115276
GO:0008340	Process	Determination of adult lifespan	IMP	19692353
GO:0009267	Process	Cellular response to starvation	IMP	24211199
GO:0010506	Process	Regulation of autophagy	IMP	24211199
GO:0010508	Process	Positive regulation of autophagy	IBA	21873635
GO:0010508	Process	Positive regulation of autophagy	IMP	22012985
GO:0010508	Process	Positive regulation of autophagy	ISS
GO:0010738	Process	Regulation of protein kinase A signaling	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:0016234	Component	Inclusion body	IMP	24403142
GO:0016242	Process	Negative regulation of macroautophagy	IMP	19640926
GO:0016301	Function	Kinase activity	IDA	17114044
GO:0016301	Function	Kinase activity	IMP	23916833
GO:0016310	Process	Phosphorylation	IMP	23916833
GO:0017075	Function	Syntaxin-1 binding	IPI	21307259
GO:0018105	Process	Peptidyl-serine phosphorylation	IDA	19576176
GO:0018107	Process	Peptidyl-threonine phosphorylation	IDA	21048939
GO:0018107	Process	Peptidyl-threonine phosphorylation	IMP	23949442
GO:0019722	Process	Calcium-mediated signaling	IBA	21873635
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:0030159	Function	Signaling receptor complex adaptor activity	IC	22899650
GO:0030276	Function	Clathrin binding	IPI	21307259
GO:0030424	Component	Axon	IBA	21873635
GO:0030424	Component	Axon	IDA	17120249
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IDA	17120249
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	IPI	21048939
GO:0031398	Process	Positive regulation of protein ubiquitination	IDA	16352719, 20173330
GO:0031410	Component	Cytoplasmic vesicle	ISS
GO:0031647	Process	Regulation of protein stability	IMP	26014385
GO:0031966	Component	Mitochondrial membrane	IDA	22736029
GO:0032091	Process	Negative regulation of protein binding	IMP	23949442
GO:0032092	Process	Positive regulation of protein binding	IDA	21370995
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: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:0034613	Process	Cellular protein localization	ISS
GO:0035556	Process	Intracellular signal transduction	ISS
GO:0035564	Process	Regulation of kidney size	ISS
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: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	IBA	21873635
GO:0042391	Process	Regulation of membrane potential	IMP	21159966
GO:0042802	Function	Identical protein binding	IPI	16321986, 18230735, 18397888, 19712061, 19733152, 20515039, 21073465, 22363216, 22952686, 23220480, 23241358, 24275654, 24591621, 24904275, 26824392, 27013965, 27357661
GO:0042803	Function	Protein homodimerization activity	IPI	16321986
GO:0043005	Component	Neuron projection	IDA	19625296, 21048939
GO:0043025	Component	Neuronal cell body	IDA	21048939, 21696411
GO:0043068	Process	Positive regulation of programmed cell death	IDA	17200152
GO:0043195	Component	Terminal bouton	TAS	21563316
GO:0043204	Component	Perikaryon	IBA	21873635
GO:0043204	Component	Perikaryon	IDA	17120249
GO:0043204	Component	Perikaryon	ISS
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043406	Process	Positive regulation of MAP kinase activity	IC	23628791
GO:0043547	Process	Positive regulation of GTPase activity	IEA
GO:0044325	Function	Ion channel binding	IPI	21370995, 22012985
GO:0044753	Component	Amphisome	IDA	19640926
GO:0044754	Component	Autolysosome	IDA	19640926
GO:0045121	Component	Membrane raft	IBA	21873635
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:0048812	Process	Neuron projection morphogenesis	IBA	21873635
GO:0048812	Process	Neuron projection morphogenesis	IMP	17114044
GO:0051018	Function	Protein kinase A binding	IBA	21873635
GO:0051018	Function	Protein kinase A binding	IPI	24464040
GO:0051646	Process	Mitochondrion localization	IMP	22764206
GO:0051770	Process	Positive regulation of nitric-oxide synthase biosynthetic process	IEA
GO:0051900	Process	Regulation of mitochondrial depolarization	IMP	22736029
GO:0051966	Process	Regulation of synaptic transmission, glutamatergic	ISS
GO:0060070	Process	Canonical Wnt signaling pathway	TAS	24115276
GO:0060079	Process	Excitatory postsynaptic potential	ISS
GO:0060159	Process	Regulation of dopamine receptor signaling pathway	IBA	21873635
GO:0060159	Process	Regulation of dopamine receptor signaling pathway	ISS
GO:0060161	Process	Positive regulation of dopamine receptor signaling pathway	IMP	20659558
GO:0060628	Process	Regulation of ER to Golgi vesicle-mediated transport	ISS
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	IBA	21873635
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	TAS	22988876
GO:0061001	Process	Regulation of dendritic spine morphogenesis	IBA	21873635
GO:0061001	Process	Regulation of dendritic spine morphogenesis	IMP	21168496
GO:0061001	Process	Regulation of dendritic spine morphogenesis	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070585	Process	Protein localization to mitochondrion	TAS	24252804
GO:0070971	Component	Endoplasmic reticulum exit site	IBA	21873635
GO:0070971	Component	Endoplasmic reticulum exit site	IDA	25201882
GO:0070973	Process	Protein localization to endoplasmic reticulum exit site	IBA	21873635
GO:0070973	Process	Protein localization to endoplasmic reticulum exit site	IMP	25201882
GO:0070997	Process	Neuron death	IMP	19692353
GO:0071287	Process	Cellular response to manganese ion	IMP	23628791
GO:0071407	Process	Cellular response to organic cyclic compound	IBA	21873635
GO:0072593	Process	Reactive oxygen species metabolic process	IMP	24576675
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	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:0106311	Function	Protein threonine kinase activity	IEA
GO:0140058	Process	Neuron projection arborization	IEA
GO:1900244	Process	Positive regulation of synaptic vesicle endocytosis	IEA
GO:1901214	Process	Regulation of neuron death	IMP	24403142
GO:1901215	Process	Negative regulation of neuron death	IGI	21857923
GO:1901727	Process	Positive regulation of histone deacetylase activity	IEA
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:1902692	Process	Regulation of neuroblast proliferation	IMP	21168496
GO:1902803	Process	Regulation of synaptic vesicle transport	IBA	21873635
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	IBA	21873635
GO:1902902	Process	Negative regulation of autophagosome assembly	IMP	23916833
GO:1903125	Process	Negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation	IDA	21850687
GO:1903206	Process	Negative regulation of hydrogen peroxide-induced cell death	IMP	24576675
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:1904713	Function	Beta-catenin destruction complex binding	NAS	24115276
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	IBA	21873635
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	NAS	24115276
GO:2000172	Process	Regulation of branching morphogenesis of a nerve	IMP	21168496
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IMP	23949442

Other IDs

• MIM: 609007
• HGNC: 18618
• e!Ensembl: ENSG00000188906

Protein

• UniProt ID: 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

• 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

Pathways

KEGG:

Parkinson disease
Pathways of neurodegeneration - multiple diseases

Reactome:

PTK6 promotes HIF1A stabilization

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Akinesia	Akinesia	rs606231129, rs606231131, rs606231132, rs118203995, rs606231133, rs104894299, rs104894300, rs786200904, rs786200905, rs104894294, rs121909254, rs121909255, rs121909256, rs150376433, rs863223335, rs751889864, rs559933584, rs761899995, rs797045528, rs551423795, rs886037842, rs560525099, rs775583136, rs1349476281, rs794727884, rs1479498379, rs1555142142, rs1558010146, rs1558003446, rs1554757237, rs770987150, rs768892432, rs1558008455, rs1560224831, rs1558005340, rs747595523, rs1567568217, rs774070092, rs776532930, rs765096923, rs1560200925, rs201947904, rs1595903667, rs376573993, rs778172294, rs759488854, rs761584017, rs769850502
Arthritis	Juvenile arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	26301688
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283	21150878
Autoimmune diseases	Autoimmune Diseases, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	rs41285370, rs869025224	26301688
Common variable immunodeficiency	Common Variable Immunodeficiency	rs72553883, rs121908379, rs104894650, rs587776775, rs398122863, rs398122864, rs397514332, rs397514331, rs727502786, rs727502787, rs72553882, rs869320688, rs869320689, rs869320754, rs773694113, rs1553319504, rs201017642, rs1555550717, rs1558192723, rs1030733127, rs749636258, rs185689791, rs1559035937, rs1565214594, rs1560679469, rs1560711146, rs1569376229, rs1578790573, rs939459600, rs1572952530, rs1572950925, rs772481080, rs369363360, rs72553885, rs72553879, rs1265262160, rs1303637368, rs757598952, rs1016142312, rs1578771120, rs1578771197, rs1578793298, rs1578793312, rs1578809101, rs1578811073, rs1590715754, rs144718007, rs759649059, rs1723945421, rs2061279365	26301688
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	26301688
Dysautonomia	Dysautonomia	rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086, rs1554703061, rs1554703613, rs1319053366, rs1554703851, rs868073099, rs926177767, rs376078668, rs1554695299, rs1554696648, rs1554696934, rs1554699327, rs1554691572, rs1554695846, rs1554697001, rs770668926, rs1554698037, rs759412460, rs1554702142, rs765572951, rs1554702880, rs1554703831, rs760774999, rs1554696650, rs757972943, rs1554703874, rs1554703907, rs571348995
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs139868987, rs750447828, rs368138379, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	26192919, 28067908
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	22190364
Papillary renal carcinoma	Papillary Renal Cell Carcinoma	rs5030823, rs2137087134, rs121913668, rs121913669, rs121913670, rs121913671, rs121913673, rs121913243, rs786202724	22138691
Parkinson disease	Parkinsonian Disorders, Autosomal Dominant Juvenile Parkinson Disease, PARKINSON DISEASE 8 (disorder), PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE, Parkinson Disease, PARKINSON DISEASE, LATE-ONSET, Young-onset Parkinson disease	rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106	25017139, 23046578, 26558463, 23046578, 26558463, 25017139, 15541308, 27111571, 15680456, 28720718, 23395371, 30635421, 16251215, 21850687, 26251043, 15925109, 15880653, 16333314, 15680457, 29212815, 15680455, 15852371, 21658387, 16240353, 22956510, 28202711, 16157908, 28395804, 16172858, 16269541, 15726496, 15732108, 15541309, 15811454, 16250030, 17114044, 16272164, 16272257, 23241745, 16533964, 16321986, 29125462, 16247070, 22575234, 16157909, 30398148, 16298482, 18986508, 18213618, 25201882, 16157901, 21538529, 29127255, 16102999, 28395802, 24565865, 26824392, 16750377, 21494637, 15929036, 26558463, 25017139, 23046578, 25631236, 28892059, 27182965, 21738487, 25149416, 21292315, 22438815, 19915576, 20205471, 23472874, 17388990, 25064009, 19915575, 22451204, 22043175, 24842889, 25475535, 23017109, 23628791, 27111571
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	26974007, 26301688
Renal carcinoma	Renal Cell Carcinoma, Conventional (Clear Cell) Renal Cell Carcinoma, Sarcomatoid Renal Cell Carcinoma, Collecting Duct Carcinoma of the Kidney	rs121913668, rs121913670, rs121913243, rs786202724	22138691
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313

Unknown
Disease name	Disease term	dbSNP ID	References
Abnormal male sexual function	Abnormal male sexual function
Ankylosing spondylitis	Ankylosing spondylitis		26974007, 26301688
Anxiety disorder	Anxiety
Autoimmune thyroiditis	Autoimmune thyroiditis		26301688
Celiac disease	Celiac Disease	rs2305764, rs35218876	26301688
Cerebral cortical atrophy	Cerebral cortical atrophy
Cholangitis	Cholangitis, Sclerosing		26974007
Chromophobe carcinoma	Chromophobe Renal Cell Carcinoma	rs137853247	22138691
Crohn disease	Crohn Disease	rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438	26301688, 26974007, 26192919, 18587394, 28067908
Dementia	Dementia
Dementia of frontal lobe	Dementia of frontal lobe type
Dyskinetic syndrome	Dyskinetic syndrome
Dysphagia	Deglutition Disorders
Dyssomnia	Dyssomnias
Endometrioma	Endometrioma		20864642
Endometriosis	Endometriosis	rs1800629, rs1143634	20864642
Female sexual dysfunction	Female sexual dysfunction
Gastroparesis	Gastroparesis
Hallucinations	Hallucinations
Hereditary parkinson`s disease	Hereditary late-onset Parkinson disease
Lupus erythematosus	Lupus Erythematosus, Systemic		26301688
Male sexual dysfunction	Male sexual dysfunction
Mental depression	Depressive disorder	rs587778876, rs587778877
Movement disorders	Movement Disorders		24243757, 28103901, 16102999, 18213618, 17200152, 15541309, 25330418, 16157901
Ovarian adenocarcinoma	Ovarian Mucinous Adenocarcinoma
Ovarian serous adenocarcinoma	Ovarian Serous Adenocarcinoma
Panic disorder	Panic Attacks
Parkinsonian disease	Autosomal Dominant Parkinsonism, Autosomal Recessive Parkinsonism, Familial Juvenile Parkinsonism, Parkinsonism, Juvenile		23046578, 25017139, 26558463, 23046578, 26558463, 25017139, 26558463, 23046578, 25017139, 25017139, 23046578, 26558463
Ramsay hunt paralysis syndrome	Ramsay Hunt Paralysis Syndrome		25017139, 23046578, 26558463
Restless legs syndrome	Restless Legs Syndrome
Sleep disorders	Sleep Disorders
Social communication disorder	Social Communication Disorder
Ulcerative colitis	Ulcerative Colitis		26301688, 26974007