Q9HBY8
Gene name |
SGK2 |
Protein name |
Serine/threonine-protein kinase Sgk2 |
Names |
EC 2.7.11.1 , Serum/glucocorticoid-regulated kinase 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10110 |
EC number |
2.7.11.-: Protein-serine/threonine kinases |
Protein Class |
|
Descriptions
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 |
|
References
- Huang X et al. (2003) "Crystal structure of an inactive Akt2 kinase domain", Structure (London, England : 1993), 11, 21-30
- Truebestein L et al. (2021) "Structure of autoinhibited Akt1 reveals mechanism of PIP(3)-mediated activation", Proceedings of the National Academy of Sciences of the United States of America, 118,
- Lučić I et al. (2018) "Conformational sampling of membranes by Akt controls its activation and inactivation", Proceedings of the National Academy of Sciences of the United States of America, 115, E3940-E3949
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 |
No associated diseases with Q9HBY8
5 regional properties for Q9HBY8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 35 - 292 | IPR000719 |
| domain | AGC-kinase, C-terminal | 293 - 367 | IPR000961 |
| active_site | Serine/threonine-protein kinase, active site | 155 - 167 | IPR008271 |
| binding_site | Protein kinase, ATP binding site | 41 - 73 | IPR017441 |
| domain | Protein kinase, C-terminal | 313 - 357 | IPR017892 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.- | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| 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 |