ATP2B2 (ATPase plasma membrane Ca2+ transporting 2)

Gene

• Entrez ID: 491
• Gene name: ATPase plasma membrane Ca2+ transporting 2
• Gene symbol: ATP2B2
• Synonyms (NCBI Gene): DFNA82, PMCA2, PMCA2a, PMCA2i
• Disease Acronyms (UniProt): DFNA82
• Chromosome: 3
• Chromosome location: 3p25.3
• Summary: The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61736451	C>A,T	Risk-factor, benign	Coding sequence variant, missense variant
rs1064795322	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1575005369	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1575009907	C>T	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT735139	hsa-miR-15b-5p	Microarray, qRT-PCR, Flow cytometry	32661467
MIRT807625	hsa-miR-1224-3p	CLIP-seq
MIRT807626	hsa-miR-1260	CLIP-seq
MIRT807627	hsa-miR-1260b	CLIP-seq
MIRT807628	hsa-miR-1280	CLIP-seq
MIRT807629	hsa-miR-3617	CLIP-seq
MIRT807630	hsa-miR-641	CLIP-seq
MIRT807631	hsa-miR-101	CLIP-seq
MIRT807632	hsa-miR-1231	CLIP-seq
MIRT807633	hsa-miR-1245b-3p	CLIP-seq
MIRT807634	hsa-miR-1253	CLIP-seq
MIRT807635	hsa-miR-138	CLIP-seq
MIRT807636	hsa-miR-144	CLIP-seq
MIRT807637	hsa-miR-181a	CLIP-seq
MIRT807638	hsa-miR-181b	CLIP-seq
MIRT807639	hsa-miR-181c	CLIP-seq
MIRT807640	hsa-miR-181d	CLIP-seq
MIRT807641	hsa-miR-3074-5p	CLIP-seq
MIRT807642	hsa-miR-3154	CLIP-seq
MIRT807643	hsa-miR-3177-5p	CLIP-seq
MIRT807644	hsa-miR-345	CLIP-seq
MIRT807645	hsa-miR-3652	CLIP-seq
MIRT807646	hsa-miR-370	CLIP-seq
MIRT807647	hsa-miR-3919	CLIP-seq
MIRT807648	hsa-miR-4251	CLIP-seq
MIRT807649	hsa-miR-4262	CLIP-seq
MIRT807650	hsa-miR-4278	CLIP-seq
MIRT807651	hsa-miR-4288	CLIP-seq
MIRT807652	hsa-miR-4430	CLIP-seq
MIRT807653	hsa-miR-4505	CLIP-seq
MIRT807654	hsa-miR-4656	CLIP-seq
MIRT807655	hsa-miR-4659a-3p	CLIP-seq
MIRT807656	hsa-miR-4659b-3p	CLIP-seq
MIRT807657	hsa-miR-4716-3p	CLIP-seq
MIRT807658	hsa-miR-4778-3p	CLIP-seq
MIRT807659	hsa-miR-499a-5p	CLIP-seq
MIRT807660	hsa-miR-548q	CLIP-seq
MIRT807661	hsa-miR-617	CLIP-seq
MIRT807662	hsa-miR-632	CLIP-seq
MIRT807663	hsa-miR-642a	CLIP-seq
MIRT807663	hsa-miR-642a	CLIP-seq
MIRT1545612	hsa-miR-887	CLIP-seq
MIRT1545613	hsa-miR-938	CLIP-seq
MIRT807663	hsa-miR-642a	CLIP-seq
MIRT1545612	hsa-miR-887	CLIP-seq
MIRT1545613	hsa-miR-938	CLIP-seq
MIRT1921875	hsa-miR-1254	CLIP-seq
MIRT1921876	hsa-miR-3116	CLIP-seq
MIRT1921877	hsa-miR-378g	CLIP-seq
MIRT1921878	hsa-miR-4492	CLIP-seq
MIRT1921879	hsa-miR-4498	CLIP-seq
MIRT807653	hsa-miR-4505	CLIP-seq
MIRT1921880	hsa-miR-762	CLIP-seq
MIRT807663	hsa-miR-642a	CLIP-seq
MIRT1545613	hsa-miR-938	CLIP-seq
MIRT2177838	hsa-miR-1238	CLIP-seq
MIRT2177839	hsa-miR-1290	CLIP-seq
MIRT2177840	hsa-miR-139-5p	CLIP-seq
MIRT2177841	hsa-miR-3122	CLIP-seq
MIRT2177842	hsa-miR-3183	CLIP-seq
MIRT2177843	hsa-miR-3913-5p	CLIP-seq
MIRT2177844	hsa-miR-4723-3p	CLIP-seq
MIRT2177845	hsa-miR-659	CLIP-seq
MIRT2384613	hsa-miR-1261	CLIP-seq
MIRT2384614	hsa-miR-3121-3p	CLIP-seq
MIRT2384615	hsa-miR-3681	CLIP-seq
MIRT2384616	hsa-miR-4330	CLIP-seq
MIRT2384617	hsa-miR-4474-5p	CLIP-seq
MIRT2177840	hsa-miR-139-5p	CLIP-seq
MIRT2426557	hsa-miR-3174	CLIP-seq
MIRT2426558	hsa-miR-3924	CLIP-seq
MIRT2177840	hsa-miR-139-5p	CLIP-seq
MIRT2426557	hsa-miR-3174	CLIP-seq
MIRT2426558	hsa-miR-3924	CLIP-seq
MIRT2481183	hsa-miR-1246	CLIP-seq
MIRT2177839	hsa-miR-1290	CLIP-seq
MIRT2481184	hsa-miR-3167	CLIP-seq
MIRT2481185	hsa-miR-3915	CLIP-seq
MIRT2481186	hsa-miR-3928	CLIP-seq
MIRT2481187	hsa-miR-4310	CLIP-seq
MIRT2481188	hsa-miR-4779	CLIP-seq
MIRT2481189	hsa-miR-876-5p	CLIP-seq
MIRT2481183	hsa-miR-1246	CLIP-seq
MIRT2675653	hsa-miR-1275	CLIP-seq
MIRT2177839	hsa-miR-1290	CLIP-seq
MIRT2675654	hsa-miR-214	CLIP-seq
MIRT2481184	hsa-miR-3167	CLIP-seq
MIRT2675655	hsa-miR-3619-5p	CLIP-seq
MIRT2481185	hsa-miR-3915	CLIP-seq
MIRT2481186	hsa-miR-3928	CLIP-seq
MIRT2675656	hsa-miR-4260	CLIP-seq
MIRT2481187	hsa-miR-4310	CLIP-seq
MIRT2675657	hsa-miR-4665-5p	CLIP-seq
MIRT2675658	hsa-miR-4690-5p	CLIP-seq
MIRT2675659	hsa-miR-4768-5p	CLIP-seq
MIRT2481188	hsa-miR-4779	CLIP-seq
MIRT2675660	hsa-miR-513c	CLIP-seq
MIRT2675661	hsa-miR-514b-5p	CLIP-seq
MIRT2675662	hsa-miR-761	CLIP-seq
MIRT2481189	hsa-miR-876-5p	CLIP-seq
MIRT2675663	hsa-miR-942	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005388	Function	Calcium transmembrane transporter activity, phosphorylative mechanism	IBA	21873635
GO:0005388	Function	Calcium transmembrane transporter activity, phosphorylative mechanism	NAS	1313367
GO:0005515	Function	Protein binding	IPI	11786550, 17689535, 30126976
GO:0005516	Function	Calmodulin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IDA	15765049
GO:0005886	Component	Plasma membrane	NAS	1313367
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0006816	Process	Calcium ion transport	IMP	17234811
GO:0006816	Process	Calcium ion transport	NAS	1313367
GO:0006874	Process	Cellular calcium ion homeostasis	IBA	21873635
GO:0007605	Process	Sensory perception of sound	IMP	15829536, 17234811
GO:0019829	Function	ATPase-coupled cation transmembrane transporter activity	IBA	21873635
GO:0030165	Function	PDZ domain binding	IBA	21873635
GO:0030182	Process	Neuron differentiation	IDA	11259493
GO:0034220	Process	Ion transmembrane transport	TAS
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0046872	Function	Metal ion binding	IEA
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	IBA	21873635
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	IMP	17234811
GO:0070062	Component	Extracellular exosome	HDA	18570454
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098839	Component	Postsynaptic density membrane	IBA	21873635
GO:0098978	Component	Glutamatergic synapse	IDA	7929331
GO:0098978	Component	Glutamatergic synapse	IMP	7929331
GO:0098982	Component	GABA-ergic synapse	IDA	7929331
GO:0098982	Component	GABA-ergic synapse	IMP	7929331
GO:0099509	Process	Regulation of presynaptic cytosolic calcium ion concentration	IEA
GO:0099566	Process	Regulation of postsynaptic cytosolic calcium ion concentration	IEA
GO:1903779	Process	Regulation of cardiac conduction	TAS
GO:1905056	Function	Calcium-transporting ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration	IMP	7929331
GO:1905059	Function	Calcium-transporting ATPase activity involved in regulation of postsynaptic cytosolic calcium ion concentration	IDA	7929331
GO:1905059	Function	Calcium-transporting ATPase activity involved in regulation of postsynaptic cytosolic calcium ion concentration	IMP	7929331

Other IDs

• MIM: 108733
• HGNC: 815
• e!Ensembl: ENSG00000157087

Protein

• UniProt ID: Q01814
• Protein name: Plasma membrane calcium-transporting ATPase 2 (PMCA2) (EC 7.2.2.10) (Plasma membrane calcium ATPase isoform 2) (Plasma membrane calcium pump isoform 2)
• Protein function: ATP-driven Ca(2+) ion pump involved in the maintenance of basal intracellular Ca(2+) levels in specialized cells of cerebellar circuit and vestibular and cochlear systems (PubMed:15829536, PubMed:17234811). Uses ATP as an energy source to transp
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00690	Cation_ATPase_N	48 → 118	Cation transporter/ATPase, N-terminus	Domain
  PF00122	E1-E2_ATPase	187 → 305		Family
  PF00122	E1-E2_ATPase	373 → 477		Family
  PF13246	Cation_ATPase	538 → 638		Family
  PF00689	Cation_ATPase_C	902 → 1084	Cation transporting ATPase, C-terminus	Family
  PF12424	ATP_Ca_trans_C	1126 → 1172	Plasma membrane calcium transporter ATPase C terminal	Family

• Tissue specificity: TISSUE SPECIFICITY: Mainly expressed in brain cortex. Found in low levels in skeletal muscle, heart muscle, stomach, liver, kidney and lung. Isoforms containing segment B are found in brain cortex and at low levels in other tissues. Isoforms containing se
• Sequence:

  MGDMTNSDFYSKNQRNESSHGGEFGCTMEELRSLMELRGTEAVVKIKETYGDTEAICRRL
  KTSPVEGLPGTAPDLEKRKQIFGQNFIPPKKPKTFLQLVWEALQDVTLIILEIAAIISLG
  LSFYHPPGEGNEGCATAQGGAEDEGEAEAGWIEGAAILLSVICVVLVTAFNDWSKEKQFR
  GLQSRIEQEQKFTVVRAGQVVQIPVAEIVVGDIAQVKYGDLLPADGLFIQGNDLKIDESS
  LTGESDQVRKSVDKDPMLLSGTHVMEGSGRMLVTAVGVNSQTGIIFTLLGAGGEEEEKKD
  KKGVKKGDGLQLPAADGAAASNAADSANASLVNGKMQDGNVDASQSKAKQQDGAAAMEMQ
  PLKSAEGGDADDRKKASMHKKEKSVLQGKLTKLAVQIGKAGLVMSAITVIILVLYFTVDT
  FVVNKKPWLPECTPVYVQYFVKFFIIGVTVLVVAVPEGLPLAVTISLAYSVKKMMKDNNL
  VRHLDACETMGNATAICSDKTGTLTTNRMTVVQAYVGDVHYKEIPDPSSINTKTMELLIN
  AIAINSAYTTKILPPEKEGALPRQVGNKTECGLLGFVLDLKQDYEPVRSQMPEEKLYKVY
  TFNSVRKSMSTVIKLPDESFRMYSKGASEIVLKKCCKILNGAGEPRVFRPRDRDEMVKKV
  IEPMACDGLRTICVAYRDFPSSPEPDWDNENDILNELTCICVVGIEDPVRPEVPEAIRKC
  QRAGITVRMVTGDNINTARAIAIKCGIIHPGEDFLCLEGKEFNRRIRNEKGEIEQERIDK
  IWPKLRVLARSSPTDKHTLVKGIIDSTHTEQRQVVAVTGDGTNDGPALKKADVGFAMGIA
  GTDVAKEASDIILTDDNFSSIVKAVMWGRNVYDSISKFLQFQLTVNVVAVIVAFTGACIT
  QDSPLKAVQMLWVNLIMDTFASLALATEPPTETLLLRKPYGRNKPLISRTMMKNILGHAV
  YQLALIFTLLFVGEKMFQIDSGRNAPLHSPPSEHYTIIFNTFVMMQLFNEINARKIHGER
  NVFDGIFRNPIFCTIVLGTFAIQIVIVQFGGKPFSCSPLQLDQWMWCIFIGLGELVWGQV
  IATIPTSRLKFLKEAGRLTQKEEIPEEELNEDVEEIDHAERELRRGQILWFRGLNRIQTQ
  IRVVKAFRSSLYEGLEKPESRTSIHNFMAHPEFRIEDSQPHIPLIDDTDLEEDAALKQNS
  SPPSSLNKNNSAIDSGINLTTDTSKSATSSSPGSPIHSLETSL

• Sequence length: 1243

Pathways

KEGG:

Calcium signaling pathway
cGMP-PKG signaling pathway
cAMP signaling pathway
Adrenergic signaling in cardiomyocytes
Aldosterone synthesis and secretion
Endocrine and other factor-regulated calcium reabsorption
Salivary secretion
Pancreatic secretion
Mineral absorption

Reactome:

Reduction of cytosolic Ca++ levels
Ion homeostasis
Ion transport by P-type ATPases

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Deafness	Deafness, Autosomal Recessive 12	rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822, rs118203957, rs111706634, rs118203988, rs1559365985, rs118203989, rs1559371613, rs1559372640, rs1559366000, rs118204026, rs118204027, rs118204028, rs118204029, rs118204030, rs118204031, rs1601632909, rs779841884, rs104893975, rs1581972457, rs1562687726, rs1562687295, rs398122997, rs119103279, rs28940307, rs137852839, rs121918339, rs876661301, rs28942097, rs28941781, rs876657371, rs267607120, rs1567381218, rs193919333, rs1564568849, rs1023746725, rs121908072, rs121908073, rs1169090943, rs121908076, rs786200882, rs786200883, rs1569770998, rs1569726455, rs121908134, rs121908136, rs1569771486, rs1569712066, rs28937893, rs104893883, rs104893882, rs74315205, rs1584317722, rs111033308, rs80338848, rs28939086, rs80338849, rs111033244, rs111033303, rs121908364, rs121908362, rs121908363, rs765884316, rs111033307, rs111033348, rs2129315781, rs121908365, rs111033199, rs111033254, rs111033205, rs111033313, rs121908366, rs111033212, rs786200885, rs74315437, rs111033270, rs121908348, rs121908349, rs111033271, rs121908351, rs121908352, rs121908354, rs137853001, rs199469706, rs137853002, rs137853003, rs137852999, rs28939084, rs137853000, rs1480243085, rs397515359, rs151045328, rs121908370, rs104894414, rs80356600, rs80356584, rs2147483647, rs80356605, rs80356593, rs28937591, rs80356602, rs80356596, rs80356586, rs2128781753, rs28937588, rs80358277, rs28939710, rs80358271, rs80358278, rs80358276, rs80358272, rs80358279, rs121908927, rs121908929, rs28938175, rs121908930, rs121908932, rs121908934, rs121908965, rs121908966, rs121908967, rs121908968, rs748108031, rs121908969, rs121908971, rs769884586, rs121908972, rs746051220, rs1270302810, rs1567664131, rs121909058, rs966621865, rs121909059, rs121909060, rs1591437831, rs1281790755, rs121909061, rs121909063, rs1591462832, rs398124631, rs121909056, rs121909057, rs137853073, rs121909110, rs121909111, rs1476157529, rs104894478, rs80356460, rs121912557, rs1562201376, rs121912558, rs121912561, rs1562283089, rs121965079, rs41298133, rs28934610, rs121965081, rs2135550200, rs121965082, rs2135478294, rs121965084, rs1555102843, rs121918379, rs1372141763, rs121918380, rs1191259480, rs267607037, rs80338834, rs80338829, rs80338828, rs80338831, rs121913657, rs137853235, rs1788701297, rs35887622, rs80338944, rs104894396, rs104894397, rs80338939, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs886037624, rs80338943, rs80338945, rs104894401, rs104894406, rs104894407, rs72474224, rs886037625, rs28931595, rs28931593, rs80338940, rs104894413, rs104894409, rs72561723, rs121912947, rs121912948, rs121912950, rs28999111, rs104894544, rs104894545, rs104894546, rs104894547, rs267606630, rs267606631, rs267606932, rs1801002, rs80338941, rs80356587, rs80356590, rs80356591, rs80356595, rs80356594, rs80356598, rs281875328, rs281875329, rs80338950, rs201539845, rs387906700, rs387906915, rs387906930, rs387906999, rs387907000, rs748150647, rs387907001, rs946085339, rs387907002, rs387907015, rs387907016, rs387907017, rs75949023, rs387907088, rs149258390, rs387907149, rs782540538, rs397515411, rs370965183, rs397515412, rs1233562246, rs397514588, rs902734999, rs397514599, rs1029389440, rs397514607, rs397514608, rs397515435, rs111033206, rs111033201, rs397516295, rs111033437, rs111033233, rs199897298, rs111033214, rs111033178, rs111033347, rs111033187, rs111033174, rs111033448, rs111033182, rs397516317, rs368657015, rs397516322, rs111033215, rs111033232, rs397516326, rs111033283, rs111033285, rs397516411, rs111033314, rs397516413, rs397516414, rs111033305, rs111033220, rs111033311, rs111033306, rs397516416, rs397516417, rs111033407, rs397516418, rs111033316, rs111033312, rs397516420, rs111033257, rs397516421, rs397516424, rs111033309, rs111033318, rs397516427, rs111033241, rs111033302, rs145254330, rs111033380, rs111033242, rs111033256, rs111033454, rs111033245, rs111033297, rs111033451, rs111033293, rs111033361, rs397516871, rs111033299, rs111033204, rs111033253, rs397516873, rs104894408, rs111033295, rs397516874, rs76434661, rs111033217, rs111033420, rs111033335, rs111033294, rs111033190, rs111033401, rs200451098, rs397517287, rs373462792, rs372466080, rs397517323, rs56264519, rs374793617, rs201632198, rs147231991, rs181949335, rs397517452, rs202033121, rs151001642, rs370898981, rs188119157, rs111033383, rs111033405, rs199766465, rs111033373, rs111033349, rs587777040, rs397515581, rs397515582, rs1443739332, rs397515583, rs397515589, rs397515590, rs397515591, rs201329629, rs397515596, rs397515598, rs199848801, rs397515601, rs147321712, rs143939430, rs397515605, rs397515608, rs397515609, rs397515610, rs1648206560, rs398122967, rs398123006, rs398123070, rs431905513, rs431905517, rs431905518, rs200656442, rs587777147, rs199700840, rs1064792854, rs483352866, rs483353048, rs483353050, rs483353049, rs587777424, rs587777691, rs587777692, rs202138002, rs281865414, rs183258549, rs137853969, rs587783647, rs587783646, rs143343083, rs606231308, rs606231410, rs794729665, rs724160024, rs724160022, rs724160025, rs724160021, rs724160020, rs724160026, rs724160018, rs724160016, rs724160015, rs724160014, rs200147906, rs397515597, rs727504567, rs727505088, rs727503430, rs727503428, rs727505273, rs545947177, rs727504301, rs727503329, rs727504709, rs376764423, rs727503066, rs730880338, rs727504302, rs148690740, rs139956283, rs727503442, rs199839039, rs727503443, rs377480477, rs727503444, rs727504304, rs372526764, rs727503493, rs377015931, rs201587138, rs373937326, rs727503309, rs201978571, rs727503315, rs727505104, rs727503062, rs111033403, rs797044491, rs797044512, rs730882242, rs786201027, rs794728016, rs539699299, rs786204504, rs786204581, rs370588279, rs786204421, rs746238617, rs786204730, rs542620119, rs786204600, rs146281367, rs786204474, rs786204601, rs786204450, rs786204739, rs368119540, rs200455203, rs752807925, rs786204523, rs748706627, rs786204597, rs771748289, rs773528125, rs786204690, rs756484720, rs786204491, rs781534323, rs104894395, rs111033296, rs371024165, rs368027306, rs371100799, rs786204841, rs786205880, rs786205881, rs772264564, rs794729637, rs875989828, rs869320674, rs797044960, rs1553165199, rs797044965, rs797044966, rs797044967, rs797044968, rs797044969, rs797044970, rs797044972, rs797044907, rs797045596, rs778909195, rs863225243, rs863225431, rs863225432, rs864309523, rs864309524, rs869312750, rs869312749, rs754391973, rs201650281, rs397516875, rs532203068, rs876657776, rs762352115, rs876657653, rs757820624, rs138527651, rs773404494, rs876657754, rs876657656, rs876657658, rs766753922, rs759174628, rs876657725, rs772536599, rs765468034, rs184435771, rs143797113, rs782255281, rs876661405, rs876661408, rs777112652, rs878853223, rs878853225, rs878853229, rs878853230, rs753896285, rs140236996, rs878853224, rs878853235, rs878853236, rs878853226, rs774312182, rs878853232, rs878853239, rs377385081, rs878853227, rs878853228, rs878853238, rs878853231, rs878854409, rs878854410, rs878854412, rs878854413, rs878854414, rs878854415, rs779445819, rs774518779, rs1554358720, rs374742590, rs750188782, rs886043441, rs886043616, rs763975867, rs370730786, rs886044666, rs886052676, rs201636911, rs1057516658, rs1057516953, rs1057516988, rs1057516881, rs768245266, rs912147281, rs777333979, rs777008062, rs147952620, rs142498437, rs1057517000, rs376653349, rs1057516243, rs1057517303, rs542079779, rs1057516472, rs770832663, rs758685587, rs1057516342, rs757027638, rs1057517261, rs1057517251, rs1057517264, rs138138689, rs377145777, rs201892914, rs376535635, rs1057517521, rs770116143, rs1057517508, rs767178508, rs199883710, rs1057517491, rs1057517519, rs371086981, rs1057517839, rs766631025, rs201895089, rs1057519601, rs1057519603, rs779077039, rs1057519604, rs1057519606, rs1057519607, rs1057523846, rs763797356, rs139805921, rs1060499651, rs751447996, rs781688103, rs1060499805, rs1060499810, rs1060499799, rs1060499808, rs727503483, rs1056396947, rs1060499788, rs1060499791, rs778251205, rs1060499792, rs1060499793, rs1060499789, rs1060499790, rs764153521, rs1060499800, rs1060499803, rs1060499801, rs1060499802, rs747656448, rs1060499794, rs375916159, rs1060499804, rs1060499798, rs373520843, rs1060499811, rs1060499809, rs549095193, rs141142414, rs554847663, rs571594379, rs1555543836, rs549138385, rs1064797088, rs1064797096, rs1555501320, rs1131691778, rs748302886, rs756790858, rs777911261, rs768620276, rs200090033, rs775633137, rs372855769, rs780170125, rs1555512658, rs778748895, rs1355262412, rs782166819, rs782063761, rs1199012623, rs1378679640, rs1569308571, rs756147087, rs1554874373, rs1554856042, rs753580324, rs1553353527, rs1403112959, rs1553356452, rs1554352234, rs1554352676, rs1554355011, rs201562855, rs1554360358, rs1554360678, rs763006761, rs192366176, rs1554360816, rs749013429, rs1399914687, rs1554362735, rs1390562340, rs1554871816, rs758382198, rs750880909, rs1554874879, rs1554874900, rs1264310782, rs1554877797, rs144948296, rs1248889536, rs752649606, rs530520654, rs1555341794, rs141774369, rs760461823, rs537227442, rs750078356, rs773916549, rs782292032, rs1555546699, rs1477766714, rs1555896285, rs1555342014, rs775828835, rs574007567, rs1306586204, rs1555683951, rs781546107, rs769443188, rs771720649, rs769260536, rs762551629, rs1554882652, rs371465450, rs1554357231, rs1221876133, rs1293971731, rs775428246, rs772430523, rs1157646266, rs748854592, rs748868741, rs375459945, rs397517376, rs764178233, rs771264491, rs759523751, rs763915229, rs373058706, rs1555051455, rs782539587, rs1064797090, rs866476223, rs1555547112, rs1245338270, rs952235302, rs771844359, rs750130520, rs571007078, rs768257384, rs936479651, rs1554275988, rs551348450, rs1554218566, rs1553950635, rs1409994676, rs201326023, rs918684449, rs747076316, rs1554359693, rs1045933779, rs1554354787, rs1275009555, rs121908361, rs201660407, rs1554359670, rs1205712508, rs768471577, rs1554360707, rs142656144, rs1554362815, rs1554822897, rs1168400018, rs1554822703, rs1328440878, rs756692340, rs1554833249, rs1554883705, rs143842048, rs1304228309, rs778110397, rs1187887456, rs1298596518, rs1223763703, rs758555088, rs147956944, rs1207247951, rs1554960388, rs1554960390, rs771279169, rs1283092935, rs1317951509, rs1385324903, rs921755529, rs782064437, rs775496999, rs1253943370, rs568612627, rs1555341926, rs1555341931, rs1555342007, rs1555341783, rs1555341960, rs1555341993, rs1555341949, rs769486081, rs1555341954, rs749861944, rs961865375, rs369245990, rs148737918, rs759201338, rs1553191001, rs549556142, rs1330406146, rs998045226, rs375759781, rs1567658710, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs762876554, rs757327146, rs1564555185, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs751906778, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs1271250198, rs1567411469, rs1566528901, rs1302739538, rs1558014576, rs759414956, rs149712664, rs1567649945, rs1568839335, rs747955135, rs147717802, rs755471554, rs576724182, rs1564556995, rs762226905, rs773573968, rs1233145763, rs377748152, rs1564554148, rs1485674839, rs1562505728, rs1564803868, rs1565129771, rs756606635, rs774366025, rs1567620939, rs1557977732, rs773648511, rs1567396832, rs1557659237, rs1558482554, rs1558489384, rs1559875009, rs371544695, rs1562835480, rs1284633493, rs1562835515, rs746427774, rs1241745103, rs776268964, rs1187168418, rs1564386891, rs1564583413, rs1564544199, rs1564544348, rs1564795354, rs1344509500, rs1565536400, rs1591961566, rs1565331646, rs1565455391, rs1566528185, rs763904943, rs1567618790, rs1229200252, rs1567623176, rs866595552, rs1567638693, rs1555543432, rs1240409145, rs766250454, rs1568278651, rs1569034190, rs1569040134, rs1569042693, rs1569046250, rs1564602202, rs1564759653, rs1564791773, rs1565017125, rs1555076948, rs1338605788, rs751142446, rs773461233, rs1567658906, rs1429442821, rs201613240, rs202086317, rs1298804148, rs1291519904, rs763572195, rs1567624190, rs749136456, rs1418245706, rs1422767764, rs1562336726, rs1558472243, rs1274464930, rs1558485249, rs587783645, rs763898293, rs1591158999, rs771622183, rs1339709390, rs1584292992, rs760866131, rs1589156388, rs1591019480, rs1589072933, rs1591999307, rs111033477, rs889110926, rs1322423998, rs775776282, rs1597787868, rs984967571, rs760413427, rs773861155, rs1584344549, rs1720770872, rs773729617, rs752714222, rs1591224147, rs1597747826, rs1589079163, rs1589950125, rs1446588093, rs1591287317, rs1591310948, rs1591378140, rs1591514873, rs1597752877, rs766187994, rs281875327, rs1583335192, rs1598551290, rs111033290, rs1571147567, rs1571177726, rs1187285510, rs1584331188, rs1384677442, rs550153707, rs1583366400, rs1582024232, rs1599083635, rs1264383341, rs376104832, rs1366021609, rs757070287, rs1598914701, rs1601639680, rs759792660, rs1596339533, rs1601514990, rs1421964916, rs1952428470, rs1959056736, rs1442485603, rs2033273061, rs1407136283, rs963520367, rs951333133, rs1947057220, rs751369871, rs767270134, rs764867438, rs1288328459, rs2046752611, rs760069953, rs2032939837, rs1390498839, rs769983282, rs772048719, rs2094144044, rs1943288780, rs530874854	17234811
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137
Schizophrenia	Schizophrenia	rs13447324, 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	28540026

Unknown
Disease term	Disease name	Evidence	References	Source
Neurodevelopmental Disorders	neurodevelopmental disorder			GenCC
Bipolar Disorder	Bipolar Disorder			GWAS
Progressive Supranuclear Palsy	Progressive Supranuclear Palsy			GWAS
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.		GWAS, CBGDA
Insomnia	Insomnia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Autism Spectrum Disorder	Associate	33076578
Autistic Disorder	Associate	23620727
Breast Neoplasms	Associate	15911623, 27148852
Carcinoma Renal Cell	Associate	34621242
Cerebellar Ataxia	Associate	36207321
Diabetes Mellitus	Associate	17957572
Epilepsy	Associate	37865723
Hearing Loss	Associate	15829536, 30535804, 36207321, 37582836
Hearing Loss High Frequency	Associate	30535804
Hearing Loss Noise Induced	Associate	25484013
Hearing Loss Sensorineural	Associate	15829536
Heart Defects Congenital	Associate	10922384, 7951234
Hypersensitivity Delayed	Associate	36207321
Hypertension	Associate	17957572
Neoplasms	Associate	24439526
Obesity	Associate	34621242
Supranuclear Palsy Progressive	Associate	33635380
Tooth Loss	Associate	15829536