RGS9 (regulator of G protein signaling 9)

Gene

• Entrez ID: 8787
• Gene name: Regulator of G protein signaling 9
• Gene symbol: RGS9
• Synonyms: PERRS, PERRS1, RGS9L
• Chromosome: 17
• Chromosome location: 17q24.1
• Summary: This gene encodes a member of the RGS family of GTPase activating proteins that function in various signaling pathways by accelerating the deactivation of G proteins. This protein is anchored to photoreceptor membranes in retinal cells and deactivates G p

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908449	T>C	Pathogenic	Coding sequence variant, missense variant
rs200798153	A>C,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201026246	T>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs574696410	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs786205509	C>T	Likely-pathogenic	Missense variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001975	Process	Response to amphetamine	IEA
GO:0003924	Function	GTPase activity	TAS
GO:0005096	Function	GTPase activator activity	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006457	Process	Protein folding	TAS
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007212	Process	Dopamine receptor signaling pathway	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007601	Process	Visual perception	IEA
GO:0008277	Process	Regulation of G protein-coupled receptor signaling pathway	IEA
GO:0009968	Process	Negative regulation of signal transduction	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0043547	Process	Positive regulation of GTPase activity	IEA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:1904783	Process	Positive regulation of NMDA glutamate receptor activity	IEA
GO:1905912	Process	Regulation of calcium ion export across plasma membrane	IEA

Other IDs

• MIM: 604067
• HGNC: 10004
• e!Ensembl: ENSG00000108370

Protein

• UniProt ID: O75916
• Protein name: Regulator of G-protein signaling 9 (RGS9)
• Protein function: Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to GNAT1. Involved in phototransduction; key element in the recovery phase of visual transd
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00610	DEP	33 → 103	Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP)	Domain
  PF18148	RGS_DHEX	106 → 205	Regulator of G-protein signalling DHEX domain	Domain
  PF00631	G-gamma	219 → 283	GGL domain	Domain
  PF00615	RGS	302 → 416	Regulator of G protein signaling domain	Domain

• Sequence:

  MTIRHQGQQYRPRMAFLQKIEALVKDMQNPETGVRMQNQRVLVTSVPHAMTGSDVLQWIV
  QRLWISSLEAQNLGNFIVRYGYIYPLQDPKNLILKPDGSLYRFQTPYFWPTQQWPAEDTD
  YAIYLAKRNIKKKGILEEYEKENYNFLNQKMNYKWDFVIMQAKEQYRAGKERNKADRYAL
  DCQEKAYWLVHRCPPGMDNVLDYGLDRVTNPNEVKVNQKQTVVAVKKEIMYYQQALMRST
  VKSSVSLGGIVKYSEQFSSNDAIMSGCLPSNPWITDDTQFWDLNAKLVEIPTKMRVERWA
  FNFSELIRDPKGRQSFQYFLKKEFSGENLGFWEACEDLKYGDQSKVKEKAEEIYKLFLAP
  GARRWINIDGKTMDITVKGLKHPHRYVLDAAQTHIYMLMKKDSYARYLKSPIYKDMLAKA
  IEPQETTKKSSTLPFMRRHLRSSPSPVILRQLEEEAKAREAANTVDITQPGQHMAPSPHL
  TVYTGTCMPPSPSSPFSSSCRSPRKPFASPSRFIRRPSTTICPSPIRVALESSSGLEQKG
  ECSGSMAPRGPSVTESSEASLDTSWPRSRPRAPPKARMALSFSRFLRRGCLASPVFARLS
  PKCPAVSHGRVQPLGDVGQQLPRLKSKRVANFFQIKMDVPTGSGTCLMDSEDAGTGESGD
  RATEKEVICPWESL

• Sequence length: 674

Pathways

KEGG:

Phototransduction
Cocaine addiction

Reactome:

Inactivation, recovery and regulation of the phototransduction cascade
G alpha (i) signalling events
Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Bradyopsia	Bradyopsia	rs758583548, rs121908449
Leber congenital amaurosis	Leber Congenital Amaurosis	rs386834252, rs386834253, rs121918165, rs62635288, rs281865192, rs137852833, rs137852834, rs137852835, rs2137919146, rs267606719, rs80044281, rs386834241, rs75895925, rs386834243, rs750962965, rs28940313, rs386834261, rs104894470, rs28940314, rs104894471, rs104894474, rs104894475, rs104894476, rs28940315, rs104894472, rs104894473, rs387906272, rs121434337, rs202126574, rs137853124, rs397515360, rs1560870755, rs62637014, rs62637016, rs62635656, rs62635654, rs28939720, rs62635659, rs137853136, rs137853137, rs62636275, rs281865175, rs62638214, rs121908449, rs121909074, rs121909075, rs1581734819, rs104894673, rs61750420, rs61749755, rs61750172, rs61752895, rs61752871, rs121917744, rs61752909, rs121917745, rs386834260, rs121912554, rs781781440, rs62653011, rs61752904, rs62636300, rs387906835, rs387906836, rs387906837, rs2147483647, rs387906858, rs143607153, rs387907009, rs140287375, rs387907290, rs142968179, rs150726175, rs387907291, rs368062092, rs387907293, rs387907294, rs62645748, rs386834152, rs386834153, rs386834157, rs386834158, rs386834159, rs1401531865, rs386834239, rs61748449, rs62637010, rs142326926, rs267598278, rs398124354, rs61749676, rs61749679, rs61749683, rs63749078, rs61749758, rs61749759, rs61750161, rs281865410, rs61750168, rs61750179, rs61750183, rs61750184, rs61750185, rs61750187, rs281865408, rs61750188, rs61750189, rs281865411, rs61749668, rs61750194, rs63340060, rs61749670, rs281865409, rs63749076, rs61749671, rs61749663, rs61749673, rs61749674, rs281865520, rs61751276, rs61751281, rs62636295, rs62636298, rs62636299, rs61751282, rs61752865, rs62637006, rs62637007, rs62653015, rs281865292, rs61752866, rs61752873, rs62642583, rs62642584, rs61752875, rs61752877, rs61752880, rs61752882, rs61752883, rs61752884, rs61752888, rs61752891, rs61751277, rs61752896, rs61752899, rs281865289, rs61752903, rs61751279, rs61752905, rs61752906, rs61752908, rs61749423, rs61748446, rs281865515, rs281865517, rs62636511, rs281865168, rs281865171, rs281865166, rs140808549, rs62637009, rs61751266, rs61751268, rs61751271, rs61751265, rs62640580, rs62640570, rs62640581, rs62640574, rs62638179, rs281865187, rs62638180, rs281865189, rs62645750, rs62645754, rs62645746, rs62636264, rs62636266, rs62645755, rs62636267, rs62635653, rs62636269, rs62636270, rs62636271, rs62636273, rs281865173, rs62636274, rs62636276, rs62636278, rs281865174, rs62635649, rs62645752, rs79436363, rs527236099, rs114342808, rs527236126, rs587783009, rs587783010, rs535922252, rs587783012, rs587783013, rs587783015, rs587783016, rs587783017, rs587783018, rs587783019, rs773372519, rs786204787, rs762631020, rs786205148, rs786205149, rs786205150, rs748902766, rs767745816, rs786205550, rs786205623, rs786205630, rs863223341, rs766608755, rs192003551, rs370119681, rs758329611, rs797044761, rs794727952, rs794729650, rs863224862, rs863224884, rs771454167, rs756302731, rs749439750, rs780624853, rs863225189, rs727503855, rs758550675, rs751218423, rs869312175, rs869320631, rs767648174, rs878853362, rs747835249, rs371496675, rs878853360, rs878853392, rs878853341, rs878853338, rs878853339, rs878853385, rs764256655, rs371526758, rs886039871, rs886039911, rs780225183, rs886042220, rs886042360, rs115352681, rs201405662, rs760915898, rs886043587, rs183261547, rs116471343, rs61752902, rs1057518122, rs1057518922, rs1057518949, rs775796581, rs368088025, rs1057519136, rs1057520152, rs752175052, rs62636260, rs777464278, rs1064797182, rs1064797304, rs1085307972, rs62645747, rs1420672586, rs1553152989, rs794727166, rs1554347012, rs1555220638, rs1555222073, rs371609982, rs768028061, rs1556313552, rs1556313557, rs1555635550, rs369775002, rs145282040, rs1553261468, rs773914330, rs1553263218, rs757740068, rs199683808, rs1553128102, rs775978677, rs747653875, rs1553722736, rs766143193, rs866395428, rs781670422, rs776880045, rs565837539, rs1555302710, rs780667159, rs1555303320, rs1555635925, rs1271498710, rs763890649, rs1553260321, rs767030473, rs1191496583, rs778606847, rs766670248, rs758593134, rs1555635668, rs201587670, rs754768875, rs775935766, rs1349849938, rs374268850, rs1554786803, rs1554786802, rs1555370458, rs1369768287, rs760540562, rs751342895, rs1429786931, rs753697847, rs564754426, rs143745703, rs771266705, rs776698746, rs1553153243, rs1555302200, rs1192112844, rs776645403, rs757609119, rs1239043055, rs1327062642, rs192907397, rs121918844, rs1429137932, rs116733939, rs1395763356, rs1226324483, rs554396590, rs776289402, rs574936510, rs750889782, rs1569531639, rs776591659, rs747393487, rs764309755, rs772170760, rs75459701, rs1264794214, rs757823463, rs759940113, rs1237424465, rs1558057153, rs1558127317, rs745422941, rs988133284, rs1566674809, rs771116776, rs1006935198, rs61750171, rs768390959, rs1568626289, rs778627080, rs752263228, rs971610277, rs1567958644, rs1557595199, rs1030149008, rs777069665, rs1208703297, rs139305531, rs1592833648, rs150412614, rs759662695, rs372066126, rs781705903, rs1592726020, rs368489658, rs758001091, rs1598146589, rs1598149659, rs968692633, rs202240410, rs1597331616, rs748798324, rs1571848688, rs143511261, rs763324776, rs774130993, rs1268307330, rs781035395, rs747138345, rs749331348, rs1468942944, rs760415289, rs1290241933, rs759408031, rs1594867551, rs200387832, rs1598144694, rs746351112, rs1594865068, rs768255532, rs1290420698, rs1300041533, rs747512450, rs567890014, rs1571848166, rs1571848855, rs1571878277, rs1571523319, rs1571525145, rs745348555, rs1571557864, rs1450635782, rs1193631220, rs1571158755, rs1571164534, rs752058510, rs527236079, rs373680665, rs745704627, rs773968778, rs1581736024, rs1178243254, rs376500610, rs61751270, rs1594865036, rs749038454, rs1594865434, rs945734402, rs1599991538, rs1599991611, rs766631462, rs745871149, rs140257538, rs1182277140, rs1769845495, rs1571848744, rs768905244, rs1571540258, rs1571544281, rs1571172233, rs1581736099, rs1581740762, rs1581742633, rs1581743256, rs765473119, rs1588830568, rs1592784618, rs1420750126, rs1594867516, rs1468041544, rs775364986, rs1598149187, rs781725943, rs890453675, rs1581735836, rs1602071524, rs772794324, rs114630940, rs1641970512, rs751644763, rs748559081, rs1286660951, rs2040637111, rs752193525, rs45502896, rs1594202505, rs1594203796, rs1325103400, rs1594280740, rs1594180177, rs1592807018, rs201070350, rs768445391, rs1581742615, rs1594865064, rs778731851, rs1660503192, rs1660516364, rs369184026, rs768713412, rs1665487563, rs1667269806, rs34627040, rs375110174, rs748972748, rs1240302846, rs1766524422, rs748370008, rs1248460033, rs1033594764, rs1186821575, rs770126103, rs745741473, rs761231974, rs752242512, rs116649873, rs2038232008, rs2038232911, rs2038317129, rs2077123571, rs2077123914, rs374255033, rs781331005, rs2039659434, rs1167867158, rs1660515780, rs1664290387, rs866822473, rs963201816, rs1664325377, rs766411096, rs1664671663, rs1558138741, rs760544654, rs562037932, rs1444234037, rs771336246, rs751589956, rs1331834680, rs762633090, rs747257567, rs761167763, rs1163040913, rs2038196341, rs760813820, rs751589863, rs760287363, rs1645823028, rs1645824187, rs774309607, rs1015895028, rs1343680080, rs1660517678, rs765676754, rs1366609497, rs1413885352, rs201883601	30718709
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	17318883

Unknown
Disease name	Disease term	dbSNP ID	References
Disorder of eye	Disorder of eye
Dyskinesia	Dyskinesia, Drug-Induced		24663062, 18160641
Graves disease	Graves Disease		30067105