Descriptions

Akt is a serine/threonine kinase that belongs to a group of proteins called the AGC superfamily. It is involved in various biological responses through the phosphatidylinositol 3-kinase (PI3K) signal transduction pathway. Akt2, in particular, is regulated by different regions of the protein.<br>The N-terminal PH domain of Akt2 plays a regulatory role in its activation. Phosphorylation of Ser474 in the C-terminal regulatory domain is also necessary for full activation of Akt2. These modifications help activate the kinase and enable it to carry out its functions.<br>The linker region between the N-lobe and C-lobe of Akt2 occupies the ATP binding site. Additionally, the activation loop within Akt2 aids in autoinhibition by blocking the binding of peptide substrates, while still allowing access to the ATP binding site.

Autoinhibitory domains (AIDs)

Target domain

27-367 (Kinase domain)

Relief mechanism

PTM

Assay

Accessory elements

176-199 (Activation loop from InterPro)

Target domain

35-292 (Protein kinase domain)

Relief mechanism

Assay

Autoinhibited structure

Activated structure

1 structures for Q9HBY8

Entry ID Method Resolution Chain Position Source
AF-Q9HBY8-F1 Predicted AlphaFoldDB

415 variants for Q9HBY8

Variant ID(s) Position Change Description Diseaes Association Provenance
rs35187177
RCV001543614
127 R>Q Colorectal cancer [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs771880699 6 A>G No ExAC
gnomAD
rs1413171044 6 A>S No gnomAD
rs1979729751 7 G>V No TOPMed
rs2145533695 8 T>S No Ensembl
rs376003983 10 S>C No ESP
ExAC
TOPMed
gnomAD
rs903526031 11 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1433631652 12 Q>* No gnomAD
rs151094343 12 Q>H No ESP
ExAC
TOPMed
gnomAD
rs1979777141 13 P>L No Ensembl
rs1979776809 13 P>S No TOPMed
rs1979777869 15 R>G No Ensembl
rs1051809537 17 N>S No TOPMed
rs1979778472 18 G>R No Ensembl
rs1050011775 21 N>I No TOPMed
gnomAD
rs1050011775 21 N>S No TOPMed
gnomAD
rs1472496923 23 G>E No gnomAD
rs200005007 24 P>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200005007 24 P>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs141029147 28 P>L No ESP
ExAC
TOPMed
gnomAD
rs1388022431 29 N>D No gnomAD
rs1979818980 29 N>K No TOPMed
rs1264207084 30 A>V No gnomAD
rs769566731 31 Q>* No ExAC
TOPMed
gnomAD
rs2145536192 31 Q>R No Ensembl
COSM1483650 33 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs771210039 34 D>N No ExAC
gnomAD
rs774384018 35 F>C No ExAC
gnomAD
rs759387934 35 F>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs761088243 36 D>E No ExAC
gnomAD
rs368110081 36 D>G No ESP
ExAC
TOPMed
gnomAD
rs200530019 36 D>N No ESP
ExAC
TOPMed
gnomAD
rs368110081 36 D>V No ESP
ExAC
TOPMed
gnomAD
rs200530019 36 D>Y No ESP
ExAC
TOPMed
gnomAD
rs2145536241 38 L>F No Ensembl
rs750160588 39 K>Q Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1388897484 39 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1979822284 40 V>F No TOPMed
rs369824445 41 I>N No ESP
TOPMed
gnomAD
rs987632510 42 G>R No gnomAD
rs987632510 42 G>S No gnomAD
TCGA novel 43 K>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs762686366 45 N>K No ExAC
gnomAD
rs1172172653 45 N>S No gnomAD
rs1979824985 47 G>E No TOPMed
rs535471043 47 G>R No 1000Genomes
ExAC
TOPMed
gnomAD
COSM3546714 48 K>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs372782530 49 V>I No ESP
TOPMed
rs369635262 49 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1339072022 51 L>Q No gnomAD
COSM5857913 52 A>Q Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3546715 53 K>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1411913 53 K>R Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs752217367 53 K>T No ExAC
TOPMed
gnomAD
rs756048017 54 R>C No ExAC
TOPMed
gnomAD
rs147953497 54 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1600988958 56 S>P No Ensembl
rs753794614 57 D>G No ExAC
gnomAD
rs1979839633 57 D>N No Ensembl
rs753794614 57 D>V No ExAC
gnomAD
rs147035926 61 Y>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1979840863 61 Y>H No TOPMed
COSM3911361 61 Y>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs147035926 61 Y>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1979841404 62 A>V No TOPMed
rs1267576874 63 V>A No TOPMed
gnomAD
COSM443849
rs778281277
63 V>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs746029910 63 V>M No ExAC
TOPMed
gnomAD
COSM443848
rs1476667216
63 V>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs1345925418 64 K>N No gnomAD
rs758675026 65 V>L No ExAC
gnomAD
TCGA novel 65 V>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1218019427 68 K>E No TOPMed
gnomAD
rs1367790703 68 K>R No gnomAD
rs1979843813 69 K>N No Ensembl
TCGA novel 69 K>Q Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 69 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs267605942 70 S>F No TOPMed
rs1979844013 70 S>P No TOPMed
rs780174060 71 I>V No ExAC
TOPMed
gnomAD
TCGA novel 73 K>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
rs8183328 76 E>G No TOPMed
gnomAD
rs8183328 76 E>V No TOPMed
gnomAD
rs781438134 78 S>I No ExAC
TOPMed
gnomAD
rs781438134 78 S>N No ExAC
TOPMed
gnomAD
rs1206827133 79 H>Q No gnomAD
rs1979956824 80 I>F No TOPMed
rs770491904 81 M>L No ExAC
TOPMed
gnomAD
rs770491904 81 M>V No ExAC
TOPMed
gnomAD
rs749720747 82 A>P No ExAC
TOPMed
gnomAD
rs749720747 82 A>S No ExAC
TOPMed
gnomAD
COSM4913390 83 E>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM723611 83 E>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs569319046 84 R>H No ExAC
TOPMed
gnomAD
rs1436070727 85 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1407966655 87 L>P No TOPMed
gnomAD
rs761726709 91 V>M No ExAC
gnomAD
rs140303557 93 H>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1979960027 94 P>L No TOPMed
rs1415736322 96 L>F No TOPMed
gnomAD
rs149168513 97 V>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1304306746 100 R>C No gnomAD
rs367993196 100 R>H No 1000Genomes
ESP
ExAC
gnomAD
rs1363763474 101 Y>C No TOPMed
gnomAD
rs754209529 103 F>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs778374321 104 Q>* No ExAC
gnomAD
COSM3546716 104 Q>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1323071785 104 Q>H No gnomAD
rs1979962374 105 T>A No gnomAD
rs1979962374 105 T>S No gnomAD
rs771132667 106 P>A No ExAC
gnomAD
rs377612011 106 P>H No ExAC
TOPMed
gnomAD
rs377612011 106 P>L No ExAC
TOPMed
gnomAD
rs377612011 106 P>R No ExAC
TOPMed
gnomAD
rs1240899725 107 E>A No TOPMed
gnomAD
rs746625692 107 E>K No ExAC
TOPMed
gnomAD
rs1466884509 108 K>* No Ensembl
rs938843585 108 K>N No TOPMed
rs1979964520 109 L>F No TOPMed
rs1187488873 110 Y>D No gnomAD
COSM1411914 110 Y>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1399643390 114 D>G No gnomAD
COSM1411915
rs147953497
114 D>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs369045712 114 D>N No ExAC
TOPMed
gnomAD
rs369045712 114 D>Y No ExAC
TOPMed
gnomAD
rs894730265 115 Y>C No TOPMed
gnomAD
rs894730265 115 Y>S No TOPMed
gnomAD
rs1568664724 116 V>I No Ensembl
rs773071898 117 N>D No ExAC
TOPMed
gnomAD
rs143273559 117 N>K No ESP
ExAC
TOPMed
gnomAD
rs767901983 118 G>V No ExAC
gnomAD
rs372059009 118 G>W No ESP
ExAC
TOPMed
gnomAD
rs752991711 119 G>* No ExAC
TOPMed
gnomAD
COSM3546717 119 G>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1200346658
COSM1225516
119 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs756221883 119 G>V No ExAC
gnomAD
rs778005111 120 E>K No ExAC
gnomAD
rs1395594924 121 L>H No gnomAD
COSM724556 124 H>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1600991607 124 H>P No Ensembl
TCGA novel
rs1979842824
125 L>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1327166599 125 L>P No gnomAD
rs777117678 127 R>W No ExAC
TOPMed
gnomAD
rs1980038865 128 E>G No Ensembl
rs1357905242 128 E>K No gnomAD
TCGA novel 129 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs915237238 129 R>C No TOPMed
gnomAD
rs915237238 129 R>G No TOPMed
gnomAD
rs570263979 130 R>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs148253360 130 R>W No ESP
ExAC
TOPMed
gnomAD
rs775481466 134 P>A No ExAC
TOPMed
gnomAD
rs760973578 134 P>R No ExAC
gnomAD
rs775481466 134 P>T No ExAC
TOPMed
gnomAD
rs141249005 135 R>G No ESP
ExAC
TOPMed
gnomAD
rs199504693 135 R>Q No ESP
ExAC
TOPMed
gnomAD
rs141249005 135 R>W No ESP
ExAC
TOPMed
gnomAD
COSM419389 136 A>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs56229314 137 R>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1600991701 137 R>T No Ensembl
rs1980043440 139 Y>C No TOPMed
TCGA novel 140 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1980043957 141 A>V No TOPMed
rs1166299206 143 V>M No gnomAD
rs763850331 144 A>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs138125315 144 A>G No ESP
TOPMed
gnomAD
rs763850331 144 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs138125315 144 A>V No ESP
TOPMed
gnomAD
rs755742423 145 S>C No ExAC
gnomAD
rs755742423 145 S>R No ExAC
gnomAD
rs756719391 146 A>D No ExAC
gnomAD
rs766451038 146 A>T No ExAC
TOPMed
gnomAD
rs1980047251 147 I>T No Ensembl
rs745787170 149 Y>* No ExAC
gnomAD
rs778297714 149 Y>C No ExAC
gnomAD
TCGA novel 149 Y>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1600991758 150 L>P No Ensembl
rs1225705735 150 L>V No TOPMed
gnomAD
rs1252643805 151 H>R No gnomAD
TCGA novel 152 S>A Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs762618711 152 S>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs750192641 152 S>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs886678200 155 I>F No TOPMed
gnomAD
rs779959970 155 I>N No ExAC
gnomAD
rs779959970 155 I>T No ExAC
gnomAD
rs886678200 155 I>V No TOPMed
gnomAD
rs149168513 157 Y>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1980050646 158 R>G No TOPMed
rs371001587 158 R>K No ESP
ExAC
TOPMed
gnomAD
rs1315099459 159 D>Y No TOPMed
gnomAD
COSM346612 160 L>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2145542643 160 L>P No Ensembl
COSM3546719 162 P>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1980078860 163 E>D No Ensembl
rs780086868 165 I>F No ExAC
TOPMed
gnomAD
rs561214757 166 L>I No TOPMed
gnomAD
rs1361521693 166 L>P No gnomAD
rs561214757 166 L>V No TOPMed
gnomAD
rs1300832300 167 L>F No gnomAD
rs1219511423 168 D>A No TOPMed
gnomAD
rs1346987516 168 D>Y No TOPMed
gnomAD
rs1305632607 169 C>F No TOPMed
gnomAD
rs1454211118 170 Q>H No TOPMed
rs868779424 170 Q>R No Ensembl
COSM3939356
rs776084733
172 H>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs762941685 173 V>M No ExAC
TOPMed
gnomAD
rs368717593 174 V>L No ESP
ExAC
TOPMed
gnomAD
rs368717593 174 V>M No ESP
ExAC
TOPMed
gnomAD
rs1314858957 175 L>P No gnomAD
rs766423421 176 T>M No TOPMed
gnomAD
rs1980173071 177 D>G No TOPMed
rs372059009 178 F>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1379535899 179 G>D No gnomAD
COSM3546720 179 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1317091376 179 G>S No TOPMed
gnomAD
rs1213803491 180 L>I No gnomAD
rs754940218 181 C>Y No ExAC
gnomAD
rs1318573456 183 E>D No TOPMed
gnomAD
rs1258783590 184 G>D No gnomAD
rs1220236205 185 V>A No gnomAD
rs1980175045 185 V>I No gnomAD
TCGA novel 186 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1202259412 186 E>D No TOPMed
gnomAD
rs1460940728 186 E>G No gnomAD
rs1255932006 187 P>R No gnomAD
rs1239756395 187 P>T No gnomAD
rs1473303077 188 E>K No gnomAD
rs559824768
COSM6093621
189 D>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1980176622 189 D>N No TOPMed
rs1186271204 190 T>P No TOPMed
gnomAD
rs1417864160 191 T>K No gnomAD
rs781014007 193 T>K No ExAC
gnomAD
rs1980178370 194 F>L No Ensembl
TCGA novel 196 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1467775669 197 T>A No gnomAD
rs1338575408 197 T>I No gnomAD
COSM3991715 198 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1429989109 198 P>S No gnomAD
rs1268198757 199 E>D No gnomAD
VAR_041074 199 E>K a lung adenocarcinoma sample; somatic mutation [UniProt] No UniProt
rs1980179604 199 E>V No Ensembl
rs552024157 200 Y>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1489720061 201 L>V No TOPMed
gnomAD
rs1460299750 202 A>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1980371220 203 P>L No TOPMed
rs1200631547 203 P>S No gnomAD
COSM478176 206 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1012760297 207 R>G No TOPMed
gnomAD
rs371549338 207 R>L No ESP
ExAC
TOPMed
gnomAD
rs1012760297 207 R>W No TOPMed
gnomAD
rs1980371895 208 K>R No Ensembl
rs751073833 211 Y>H No ExAC
TOPMed
gnomAD
rs767312138 213 R>L No ExAC
TOPMed
gnomAD
rs767312138 213 R>Q No ExAC
TOPMed
gnomAD
rs562801174 214 A>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs562801174 214 A>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs777560138 215 V>L No ExAC
gnomAD
rs200466252 216 D>V No ESP
ExAC
TOPMed
gnomAD
rs1980374519 217 W>* No gnomAD
rs1441601495 217 W>* No gnomAD
rs747970827 217 W>G No TOPMed
rs576244474 218 W>* No 1000Genomes
ExAC
TOPMed
gnomAD
rs576244474 218 W>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs545256210 219 C>F No 1000Genomes
ExAC
TOPMed
gnomAD
COSM5523791 219 C>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1980375438 220 L>W No Ensembl
rs772212410 221 G>V No ExAC
gnomAD
rs775816146 222 A>S No ExAC
TOPMed
gnomAD
TCGA novel
rs747552762
223 V>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
gnomAD
NCI-TCGA
rs1363366717 223 V>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1239508965 225 Y>H No TOPMed
gnomAD
COSM3546724 226 E>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1980376994 226 E>G No TOPMed
rs1980376744 226 E>K No TOPMed
gnomAD
rs762666063 227 M>K No ExAC
TOPMed
gnomAD
rs762666063 227 M>T No ExAC
TOPMed
gnomAD
rs763436249 228 L>F No TOPMed
gnomAD
rs774078730 230 G>S No ExAC
TCGA novel 231 L>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1391749452 231 L>V No TOPMed
gnomAD
rs1466239240 232 P>L No gnomAD
rs769330436 234 F>L No ExAC
TOPMed
gnomAD
rs1223391275 235 Y>H No TOPMed
gnomAD
rs1332216134 235 Y>S No TOPMed
gnomAD
rs139082826 237 Q>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1980453555 238 D>E No TOPMed
rs748478154 238 D>G No ExAC
TOPMed
gnomAD
rs773809237 240 S>F No ExAC
TOPMed
gnomAD
rs770318092 240 S>P No ExAC
gnomAD
rs1279705095 241 Q>* No gnomAD
rs1263290289 241 Q>H No TOPMed
gnomAD
rs1980454446 241 Q>P No Ensembl
rs771470286 242 M>I No ExAC
rs775134419 243 Y>* No ExAC
rs1980455255 243 Y>H No Ensembl
rs760573886 244 E>* No ExAC
TOPMed
rs760573886 244 E>K No ExAC
TOPMed
rs765081617 246 I>F No ExAC
rs750551120 247 L>M No ExAC
TOPMed
gnomAD
rs758702684 247 L>P No ExAC
gnomAD
rs758702684 247 L>Q No ExAC
gnomAD
rs758702684 247 L>R No ExAC
gnomAD
rs201107079 248 H>P No ExAC
gnomAD
rs781753057 250 P>L No ExAC
TOPMed
gnomAD
rs781753057 250 P>Q No ExAC
TOPMed
gnomAD
rs778259364 252 Q>* No ExAC
TOPMed
gnomAD
rs144484426 252 Q>R No ESP
ExAC
gnomAD
rs1393992024 253 I>F No TOPMed
gnomAD
rs1393992024 253 I>V No TOPMed
gnomAD
rs373606723 256 G>R No ESP
TOPMed
gnomAD
rs373606723 256 G>S No ESP
TOPMed
gnomAD
rs768185787 257 R>Q No ExAC
TOPMed
gnomAD
rs148779761 257 R>W No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1980460033 258 T>R No gnomAD
TCGA novel 259 V>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs776480411 259 V>M No ExAC
TOPMed
gnomAD
rs764925044 261 A>S No ExAC
TOPMed
gnomAD
rs764925044 261 A>T No ExAC
TOPMed
gnomAD
rs77604620 262 C>S No Ensembl
rs1298549200 263 D>N No gnomAD
rs773122788 264 L>F No ExAC
gnomAD
TCGA novel
rs1980371402
266 Q>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1305807279 266 Q>K No Ensembl
rs371549338 267 S>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1233803756 267 S>R No gnomAD
COSM1026983 270 H>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1251941393 270 H>Q No TOPMed
gnomAD
rs997424393 270 H>R No TOPMed
gnomAD
rs763065323 271 K>Q No ExAC
gnomAD
rs1351174814 271 K>R No gnomAD
rs1980462802 272 D>N No TOPMed
gnomAD
rs1218495423 273 Q>* No gnomAD
rs754924930 273 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1980463219 273 Q>R No Ensembl
rs1263685545 274 R>G No gnomAD
rs1376129286 274 R>K No TOPMed
gnomAD
rs766577734 275 Q>R No ExAC
gnomAD
rs751865521 276 R>G No ExAC
TOPMed
gnomAD
TCGA novel 278 G>G Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM4098625 278 G>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1200148764 281 A>V No gnomAD
COSM724555 282 D>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs753243279 283 F>S No ExAC
TOPMed
gnomAD
rs1980464828 283 F>V No gnomAD
rs1440232558 285 E>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1222666729 285 E>K No TOPMed
gnomAD
rs780648362 286 I>V No ExAC
TOPMed
gnomAD
rs200797550 289 H>R No 1000Genomes
ExAC
TOPMed
gnomAD
VAR_041075
rs35793869
289 H>Y No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 293 S>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1416496403 294 P>S No gnomAD
rs1416496403 294 P>T No gnomAD
rs1980694542 297 W>R No gnomAD
rs1379248803 298 D>G No TOPMed
rs1479848720 301 Y>S No Ensembl
rs1405236690 303 K>N No gnomAD
rs772473297 303 K>R No ExAC
gnomAD
rs1980696265 304 R>K No gnomAD
rs891003647 305 L>V No TOPMed
rs1272741825 308 P>S No TOPMed
gnomAD
rs1304361697 311 P>L No gnomAD
rs1304361697 311 P>Q No gnomAD
TCGA novel 312 N>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1040192580 314 T>I No gnomAD
rs1040192580 314 T>K No gnomAD
rs1981004404 315 G>E No Ensembl
COSM1483651
rs774838630
315 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1483651
rs763238680
315 G>R breast [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs766744287 318 D>H No ExAC
rs1981005411 322 F>I No TOPMed
rs866568183 325 E>* No Ensembl
rs755794346 327 T>I No ExAC
gnomAD
rs755794346 327 T>N No ExAC
gnomAD
rs777308952 328 Q>R No ExAC
gnomAD
rs1353819680 329 E>D No gnomAD
rs200184491 330 A>G No 1000Genomes
ExAC
gnomAD
rs1229736864 330 A>P No gnomAD
rs200184491 330 A>V No 1000Genomes
ExAC
gnomAD
rs200888984 331 V>M No Ensembl
COSM3972558
rs1218495423
333 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs1456934348 333 K>Q No gnomAD
rs1981007333 336 G>A No TOPMed
gnomAD
rs755045211
COSM4390057
336 G>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs751865521
COSM289606
336 G>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1178032411 337 C>R No TOPMed
gnomAD
rs1196634252 337 C>S No gnomAD
rs1196634252 337 C>Y No gnomAD
rs1601004794 338 T>P No Ensembl
rs778952371 340 D>A No ExAC
gnomAD
rs778952371 340 D>V No ExAC
gnomAD
rs777516703 342 V>A No gnomAD
rs771931070 342 V>M No ExAC
gnomAD
COSM1026984 342 V>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs147672588 343 A>T No ESP
ExAC
TOPMed
gnomAD
TCGA novel 345 S>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1471924861 346 S>C No gnomAD
rs1165235304 348 A>D No gnomAD
rs1981009608 348 A>T No Ensembl
rs747250493 350 S>G No ExAC
gnomAD
rs996045856 351 A>T No TOPMed
gnomAD
rs368731800 352 F>L No ESP
ExAC
TOPMed
gnomAD
rs1981011040 352 F>L No TOPMed
COSM3991716 355 F>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1981011754 356 S>F No TOPMed
TCGA novel 356 S>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs748188805 356 S>P No ExAC
TOPMed
gnomAD
rs904631892 357 Y>C No Ensembl
COSM97805 359 P>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs766765898 360 E>G No ExAC
TOPMed
gnomAD
rs1223273825 360 E>K No TOPMed
gnomAD
rs1295347295 361 D>V No Ensembl
rs2145564468 362 D>G No Ensembl
rs1216231388 362 D>N No gnomAD
rs1416453658 365 L>W No TOPMed
rs760355928 367 C>F No ExAC
TOPMed
gnomAD
rs760355928 367 C>Y No ExAC
TOPMed
gnomAD

5 associated diseases with Q9HBY8

[MIM: 133540]: Cockayne syndrome B (CSB)

A rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in intellectual disability. Two clinical forms are recognized

[MIM: 214150]: Cerebro-oculo-facio-skeletal syndrome 1 (COFS1)

A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 278800]: De Sanctis-Cacchione syndrome (DSC)

An autosomal recessive syndrome consisting of xeroderma pigmentosum associated with severe neurological and developmental involvement. In addition to the clinical signs of xeroderma pigmentosum, patients present with intellectual disability, dwarfism, gonadal hypoplasia, microcephaly and various neurologic complications of early onset. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 613761]: Macular degeneration, age-related, 5 (ARMD5)

A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. . Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

[MIM: 600630]: UV-sensitive syndrome 1 (UVSS1)

An autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling in the absence of neurological abnormalities or skin tumors. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in intellectual disability. Two clinical forms are recognized
  • A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome. . Note=The disease is caused by variants affecting the gene represented in this entry.
  • An autosomal recessive syndrome consisting of xeroderma pigmentosum associated with severe neurological and developmental involvement. In addition to the clinical signs of xeroderma pigmentosum, patients present with intellectual disability, dwarfism, gonadal hypoplasia, microcephaly and various neurologic complications of early onset. Note=The disease is caused by variants affecting the gene represented in this entry.
  • A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. . Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
  • An autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling in the absence of neurological abnormalities or skin tumors. . Note=The disease is caused by variants affecting the gene represented in this entry.

14 regional properties for Q9HBY8

Type Name Position InterPro Accession
domain Receptor L-domain 52 - 163 IPR000494-1
domain Receptor L-domain 359 - 468 IPR000494-2
domain Protein kinase domain 1023 - 1298 IPR000719
domain Serine-threonine/tyrosine-protein kinase, catalytic domain 1023 - 1290 IPR001245
conserved_site Tyrosine-protein kinase, receptor class II, conserved site 1183 - 1191 IPR002011
domain Fibronectin type III 492 - 600 IPR003961-1
domain Fibronectin type III 622 - 831 IPR003961-2
domain Fibronectin type III 851 - 947 IPR003961-3
domain Furin-like cysteine-rich domain 179 - 340 IPR006211
repeat Furin-like repeat 231 - 321 IPR006212
active_site Tyrosine-protein kinase, active site 1155 - 1167 IPR008266
binding_site Protein kinase, ATP binding site 1029 - 1057 IPR017441
domain Tyrosine-protein kinase, catalytic domain 1023 - 1290 IPR020635
domain Insulin receptor, trans-membrane domain 940 - 987 IPR040969

Functions

Description
EC Number 2.7.11.- Protein-serine/threonine kinases
Subcellular Localization
  • Cytoplasm
  • Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.

5 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
potassium channel regulator activity Binds to and modulates the activity of a potassium channel.
protein serine kinase activity Catalysis of the reactions
protein serine/threonine kinase activity Catalysis of the reactions
sodium channel regulator activity Binds to and modulates the activity of a sodium channel.

6 GO annotations of biological process

Name Definition
intracellular signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
positive regulation of transporter activity Any process that activates or increases the activity of a transporter.
protein phosphorylation The process of introducing a phosphate group on to a protein.
regulation of cell growth Any process that modulates the frequency, rate, extent or direction of cell growth.
regulation of cell population proliferation Any process that modulates the frequency, rate or extent of cell proliferation.
response to oxidative stress Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals.

34 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q6TJY3 RPS6KB1 Ribosomal protein S6 kinase beta-1 Bos taurus (Bovine) SS
P23443 RPS6KB1 Ribosomal protein S6 kinase beta-1 Homo sapiens (Human) EV SS
Q9UBS0 RPS6KB2 Ribosomal protein S6 kinase beta-2 Homo sapiens (Human) PR
O15530 PDPK1 3-phosphoinositide-dependent protein kinase 1 Homo sapiens (Human) EV
Q05513 PRKCZ Protein kinase C zeta type Homo sapiens (Human) SS
P41743 PRKCI Protein kinase C iota type Homo sapiens (Human) EV
Q16512 PKN1 Serine/threonine-protein kinase N1 Homo sapiens (Human) EV
Q6P5Z2 PKN3 Serine/threonine-protein kinase N3 Homo sapiens (Human) SS
Q16513 PKN2 Serine/threonine-protein kinase N2 Homo sapiens (Human) EV
P24723 PRKCH Protein kinase C eta type Homo sapiens (Human) SS
Q02156 PRKCE Protein kinase C epsilon type Homo sapiens (Human) SS
Q04759 PRKCQ Protein kinase C theta type Homo sapiens (Human) PR
Q05655 PRKCD Protein kinase C delta type Homo sapiens (Human) SS
P17252 PRKCA Protein kinase C alpha type Homo sapiens (Human) EV
P05129 PRKCG Protein kinase C gamma type Homo sapiens (Human) SS
P05771 PRKCB Protein kinase C beta type Homo sapiens (Human) SS
P31751 AKT2 RAC-beta serine/threonine-protein kinase Homo sapiens (Human) EV SS
P31749 AKT1 RAC-alpha serine/threonine-protein kinase Homo sapiens (Human) EV
Q9Y243 AKT3 RAC-gamma serine/threonine-protein kinase Homo sapiens (Human) SS
Q96BR1 SGK3 Serine/threonine-protein kinase Sgk3 Homo sapiens (Human) SS
O00141 SGK1 Serine/threonine-protein kinase Sgk1 Homo sapiens (Human) PR
Q15208 STK38 Serine/threonine-protein kinase 38 Homo sapiens (Human) EV
Q9Y2H1 STK38L Serine/threonine-protein kinase 38-like Homo sapiens (Human) EV
Q6A1A2 PDPK2P Putative 3-phosphoinositide-dependent protein kinase 2 Homo sapiens (Human) PR
Q8QZV4 Stk32c Serine/threonine-protein kinase 32C Mus musculus (Mouse) PR
Q9Z1M4 Rps6kb2 Ribosomal protein S6 kinase beta-2 Mus musculus (Mouse) SS
Q8BSK8 Rps6kb1 Ribosomal protein S6 kinase beta-1 Mus musculus (Mouse) SS
Q9ERE3 Sgk3 Serine/threonine-protein kinase Sgk3 Mus musculus (Mouse) PR
P67999 Rps6kb1 Ribosomal protein S6 kinase beta-1 Rattus norvegicus (Rat) EV SS
Q9SUA3 D6PKL1 Serine/threonine-protein kinase D6PKL1 Arabidopsis thaliana (Mouse-ear cress) PR
O48963 PHOT1 Phototropin-1 Arabidopsis thaliana (Mouse-ear cress) PR
O64682 PID Protein kinase PINOID Arabidopsis thaliana (Mouse-ear cress) PR
Q9LUL2 WAG2 Serine/threonine-protein kinase WAG2 Arabidopsis thaliana (Mouse-ear cress) PR
Q5BKK4 sgk1 Serine/threonine-protein kinase Sgk1 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
10 20 30 40 50 60
MNSSPAGTPS PQPSRANGNI NLGPSANPNA QPTDFDFLKV IGKGNYGKVL LAKRKSDGAF
70 80 90 100 110 120
YAVKVLQKKS ILKKKEQSHI MAERSVLLKN VRHPFLVGLR YSFQTPEKLY FVLDYVNGGE
130 140 150 160 170 180
LFFHLQRERR FLEPRARFYA AEVASAIGYL HSLNIIYRDL KPENILLDCQ GHVVLTDFGL
190 200 210 220 230 240
CKEGVEPEDT TSTFCGTPEY LAPEVLRKEP YDRAVDWWCL GAVLYEMLHG LPPFYSQDVS
250 260 270 280 290 300
QMYENILHQP LQIPGGRTVA ACDLLQSLLH KDQRQRLGSK ADFLEIKNHV FFSPINWDDL
310 320 330 340 350 360
YHKRLTPPFN PNVTGPADLK HFDPEFTQEA VSKSIGCTPD TVASSSGASS AFLGFSYAPE
DDDILDC