P80365
PR
Gene name |
HSD11B2 |
Protein name |
11-beta-hydroxysteroid dehydrogenase type 2 |
Names |
11-DH2, 11-beta-HSD2, 11-beta-hydroxysteroid dehydrogenase type II, 11-HSD type II, 11-beta-HSD type II, Corticosteroid 11-beta-dehydrogenase isozyme 2, NAD-dependent 11-beta-hydroxysteroid dehydrogenase, Short chain dehydrogenase/reductase family 9C member 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3291 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for P80365
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P80365-F1 | Predicted | AlphaFoldDB |
324 variants for P80365
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000024128 rs794726684 |
25 | R>* | Apparent mineralocorticoid excess [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000761441 rs1567529174 |
74 | R>missing | Apparent mineralocorticoid excess [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555518481 CA396277387 RCV000995564 RCV000517382 RCV001570971 |
89 | G>D | Apparent mineralocorticoid excess [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396277443 rs1356598056 RCV000505578 |
91 | D>A | Apparent mineralocorticoid excess [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
| VAR_015634 | 114 | L>del | AME; reduces enzyme activity by at least 95% [UniProt] | Yes | UniProt |
|
rs794726669 RCV000761442 RCV000012882 |
115 | E>missing | Apparent mineralocorticoid excess, mild Apparent mineralocorticoid excess [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002476043 CA8110617 RCV000518271 rs13306425 COSM1254438 VAR_052317 |
147 | R>H | oesophagus Apparent mineralocorticoid excess [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_015635 | 179 | L>R | AME; abolishes enzyme activity [UniProt] | Yes | UniProt |
| VAR_015636 | 180 | S>F | AME; reduces enzyme activity [UniProt] | Yes | UniProt |
|
VAR_015637 CA8110660 rs768507002 |
186 | R>C | AME [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
rs121917780 RCV000012874 VAR_006958 CA121879 |
208 | R>C | Apparent mineralocorticoid excess (ame) Variant assessed as Somatic; 0.0 impact. Apparent mineralocorticoid excess AME; reduces enzyme activity by at least 95% [Ensembl, NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000012877 CA121882 rs28934592 RCV002508774 VAR_015638 |
208 | R>H | Apparent mineralocorticoid excess (ame) Variant assessed as Somatic; 0.0 impact. Apparent mineralocorticoid excess AME; abolishes enzyme activity [Ensembl, NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_006959 RCV000012875 rs28934591 CA121880 |
213 | R>C | Apparent mineralocorticoid excess (ame) Apparent mineralocorticoid excess AME; reduces enzyme activity by 90% [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV000012883 VAR_066514 rs121917833 CA121888 RCV002512996 |
223 | D>N | Apparent mineralocorticoid excess (ame) Apparent mineralocorticoid excess AME; reduces enzyme activity to about 6% of wild type [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
VAR_015639 RCV000012881 rs121917782 CA121886 |
227 | P>L | Apparent mineralocorticoid excess, mild hypertension; decreases affinity for cortisol [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
VAR_015640 CA396280452 rs1309642469 RCV000985014 |
237 | A>V | Apparent mineralocorticoid excess AME; reduces enzyme activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
| VAR_015641 | 244 | D>N | AME; associated with R-250 [UniProt] | Yes | UniProt |
| VAR_015643 | 250 | L>PS | AME; abolishes enzyme activity [UniProt] | Yes | UniProt |
| VAR_015642 | 250 | L>R | AME; associated with N-244 [UniProt] | Yes | UniProt |
|
rs28934594 VAR_015644 RCV000012879 CA121885 |
279 | R>C | Apparent mineralocorticoid excess (ame) Apparent mineralocorticoid excess AME; decreases enzyme activity by 33% [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000012884 rs794726670 |
299 | Y>missing | Apparent mineralocorticoid excess [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002488090 RCV000992171 rs147758873 CA8110786 |
317 | D>N | Variant assessed as Somatic; 0.0001386 impact. Apparent mineralocorticoid excess [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000761443 rs1567530910 |
321 | V>APV | Apparent mineralocorticoid excess [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_015645 RCV001281140 CA396282760 rs1453036708 |
328 | A>V | Apparent mineralocorticoid excess (ame) Apparent mineralocorticoid excess AME; abolishes enzyme activity [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000012876 VAR_066515 CA121881 rs121917781 |
337 | R>C | Apparent mineralocorticoid excess (ame) Apparent mineralocorticoid excess AME; decreased half-life from 21 to 4 hours compared to wild-type, probably due to degradation via the proteasomal pathway [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs397509434 VAR_015647 RCV000012878 |
337 | R>H | Apparent mineralocorticoid excess AME; abolishes enzyme activity [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV001329093 rs28934593 |
337 | R>L | Apparent mineralocorticoid excess [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_015646 CA129702 RCV000024127 rs387907117 |
338 | Y>H | Apparent mineralocorticoid excess (ame) Apparent mineralocorticoid excess AME; abolishes enzyme activity; decreased half-life from 21 to 3 hours compared to wild-type, probably due to degradation via the proteasomal pathway [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs2040979235 RCV001281139 |
341 | G>missing | Apparent mineralocorticoid excess [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_085553 | 374 | R>del | AME; decreases enzyme activity [UniProt] | Yes | UniProt |
|
CA396273916 rs1414889631 |
2 | E>K | No |
ClinGen gnomAD |
|
|
CA396273943 rs1483639596 |
3 | R>L | No |
ClinGen TOPMed |
|
|
CA396273974 rs1302194388 |
5 | P>T | No |
ClinGen gnomAD |
|
|
rs1374094545 CA396273993 |
6 | W>* | No |
ClinGen gnomAD |
|
|
rs1208304663 CA396273982 |
6 | W>G | No |
ClinGen TOPMed |
|
|
CA396274011 rs1393238231 |
7 | P>Q | No |
ClinGen gnomAD |
|
|
rs1376398001 CA396274042 |
9 | G>D | No |
ClinGen gnomAD |
|
|
CA282319115 rs975967480 |
10 | G>S | No |
ClinGen TOPMed |
|
|
rs1346185799 CA396274125 |
14 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1346185799 CA396274124 |
14 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA282319140 rs983251408 |
15 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1178413996 CA396274157 |
16 | A>T | No |
ClinGen gnomAD |
|
|
rs556122396 CA282319142 |
18 | R>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA396274195 rs1300651369 |
18 | R>P | No |
ClinGen TOPMed |
|
|
CA396274224 rs1446814942 |
19 | A>V | No |
ClinGen TOPMed |
|
|
rs1370855005 CA396274257 |
22 | Q>E | No |
ClinGen TOPMed |
|
|
CA396274281 rs1438693342 |
22 | Q>H | No |
ClinGen gnomAD |
|
|
rs1396586155 CA396274434 |
29 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA396274502 rs1337711885 |
32 | R>G | No |
ClinGen gnomAD |
|
|
CA396274534 rs1202238989 |
33 | P>S | No |
ClinGen Ensembl |
|
|
rs1296517099 CA396274634 |
37 | A>P | No |
ClinGen gnomAD |
|
|
CA396274723 rs1597560301 |
40 | L>P | No |
ClinGen Ensembl |
|
|
CA8110556 rs765574993 |
42 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597560308 CA396274788 |
43 | A>V | No |
ClinGen Ensembl |
|
|
CA396274808 rs1324083488 |
44 | L>P | No |
ClinGen TOPMed |
|
|
CA282319169 rs895118361 |
45 | D>N | No |
ClinGen TOPMed |
|
|
CA396274821 rs895118361 |
45 | D>Y | No |
ClinGen TOPMed |
|
|
rs1305905886 CA396274841 |
46 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
CA396274846 rs1305905886 |
46 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1289870880 CA396274894 |
48 | C>S | No |
ClinGen TOPMed |
|
|
CA396274942 rs1369183592 |
50 | R>G | No |
ClinGen gnomAD |
|
|
CA396275024 rs1261753593 |
53 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA396275011 rs1293957368 |
53 | P>S | No |
ClinGen TOPMed |
|
|
rs1597560326 CA396275040 |
54 | P>Q | No |
ClinGen Ensembl |
|
|
rs1296807727 CA396275140 |
57 | A>S | No |
ClinGen gnomAD |
|
|
CA396275127 rs1296807727 |
57 | A>T | No |
ClinGen gnomAD |
|
|
CA396275143 rs1309751573 |
57 | A>V | No |
ClinGen gnomAD |
|
|
CA8110557 rs775832824 |
59 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396275169 rs775832824 |
59 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192200557 CA396275196 |
60 | V>M | No |
ClinGen TOPMed |
|
|
CA396275214 rs1264249559 |
61 | L>M | No |
ClinGen TOPMed |
|
|
CA8110558 rs761552080 |
64 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA396275331 rs1213880949 |
65 | G>V | No |
ClinGen gnomAD |
|
|
rs1254513298 CA396275377 |
66 | W>C | No |
ClinGen gnomAD |
|
|
CA396275389 rs1046652532 |
67 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA282319204 rs370549443 |
70 | S>F | No |
ClinGen Ensembl |
|
|
rs1334874034 CA396275485 |
71 | R>G | No |
ClinGen TOPMed |
|
|
rs1420046998 CA396275494 |
71 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1365349371 CA396275502 |
72 | L>Q | No |
ClinGen TOPMed |
|
|
CA396275573 rs1168255303 |
74 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA396275577 rs1168255303 |
74 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA396275613 rs1422927408 |
75 | P>L | No |
ClinGen gnomAD |
|
|
rs767338144 CA8110560 |
79 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767338144 CA8110559 |
79 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA282319224 rs921110870 |
80 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA396275904 rs1328115180 |
89 | G>C | No |
ClinGen gnomAD |
|
|
rs1356598056 CA396277440 |
91 | D>V | No |
ClinGen TOPMed |
|
|
rs1348344434 CA396277464 |
93 | G>S | No |
ClinGen gnomAD |
|
|
rs1313802568 CA396277551 |
96 | K>R | No |
ClinGen TOPMed |
|
|
rs758071954 CA8110587 |
97 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs777248299 CA8110588 |
98 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA8110591 rs781774610 |
99 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8110592 rs746372669 |
101 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1567530232 CA396277711 |
104 | S>C | No |
ClinGen Ensembl |
|
|
rs775724453 CA396277761 |
106 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775724453 CA8110594 |
106 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749262459 CA8110595 |
107 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA396277769 rs749262459 |
107 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA396277792 rs1272490770 |
108 | T>M | No |
ClinGen gnomAD |
|
|
CA396277802 rs1422713575 |
109 | V>A | No |
ClinGen TOPMed |
|
|
CA8110598 rs774388009 |
109 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA282321923 rs913489956 |
112 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs978078233 CA282321933 |
113 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs770686551 CA8110600 |
114 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA8110601 rs200837892 |
115 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200837892 CA396277877 |
115 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759459885 CA8110602 |
116 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396277907 rs1597562420 |
116 | L>S | No |
ClinGen Ensembl |
|
| TCGA novel | 116 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374227164 CA282321964 |
117 | N>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1265442327 CA396277968 |
118 | S>G | No |
ClinGen Ensembl |
|
|
CA8110604 rs148998536 |
120 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396278024 rs1490009337 |
121 | A>T | No |
ClinGen TOPMed |
|
|
rs904719287 CA282322006 |
122 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs763853094 CA8110606 |
123 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA8110605 rs762318430 |
123 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8110607 rs751137285 |
124 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8110608 rs546805920 |
125 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs781679176 CA8110609 |
125 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA396278090 rs1597562448 |
126 | T>P | No |
ClinGen Ensembl |
|
|
rs1567530272 CA396278157 |
130 | P>R | No |
ClinGen Ensembl |
|
|
rs781425510 CA8110610 |
131 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8110611 rs1402979063 |
131 | R>H | No |
ClinGen TOPMed |
|
|
CA282322021 rs781425510 |
131 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8110613 rs756695833 |
133 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8110614 rs780386115 |
136 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367611152 CA8110615 |
138 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396278285 rs1391674242 |
139 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 141 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750735465 CA396278364 |
142 | P>L | No |
ClinGen gnomAD |
|
|
rs750735465 CA282322055 |
142 | P>R | No |
ClinGen gnomAD |
|
|
rs1280051660 CA396278428 |
145 | I>M | No |
ClinGen gnomAD |
|
|
rs72650118 CA8110616 |
147 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs72650118 CA282322056 |
147 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA282322098 CA396278452 rs1139495 |
148 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8110619 rs1139495 |
148 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs569280594 CA8110621 |
152 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs536708177 CA282322127 |
154 | A>T | No |
ClinGen 1000Genomes |
|
|
CA8110623 rs775264177 |
156 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396278630 rs1477802189 |
159 | T>N | No |
ClinGen gnomAD |
|
|
rs145132374 CA8110627 |
160 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 163 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8110649 rs142435782 |
165 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1394390392 CA396278822 |
166 | N>S | No |
ClinGen gnomAD |
|
|
CA396278853 rs1336569280 |
168 | A>S | No |
ClinGen gnomAD |
|
|
CA282322370 rs544892891 |
169 | G>D | No |
ClinGen 1000Genomes |
|
|
CA8110651 rs138853656 |
171 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 172 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8110655 rs778006489 COSM972443 |
173 | V>A | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs563098276 CA8110654 |
173 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8110656 rs747223797 |
174 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA282322425 rs761667105 |
177 | A>T | No |
ClinGen Ensembl |
|
|
CA8110657 rs755994842 |
177 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1378182077 CA396279080 |
182 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs918770228 CA282322461 |
186 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA396279152 rs1360791183 |
187 | S>G | No |
ClinGen gnomAD |
|
|
CA396279172 rs774383256 |
188 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA8110661 rs774383256 |
188 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs747711207 CA8110662 |
189 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs1305636350 CA396279245 |
191 | V>L | No |
ClinGen TOPMed |
|
|
CA282322481 rs951605681 |
194 | F>Y | No |
ClinGen Ensembl |
|
|
CA8110668 rs560632514 |
196 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1378928 CA8110667 rs560632514 |
196 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA8110669 rs765709883 |
196 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8110671 rs764141451 |
198 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396279379 rs764141451 |
198 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396279515 rs1200098826 |
205 | P>S | No |
ClinGen gnomAD |
|
|
rs779034293 CA8110675 |
213 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396279663 rs28934591 |
213 | R>S | Apparent mineralocorticoid excess (ame) [Ensembl] | No |
ClinGen TOPMed |
|
rs1175274265 CA396279713 |
215 | V>M | No |
ClinGen gnomAD |
|
|
rs1373677424 CA396279753 |
217 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs944363459 CA282322564 |
221 | A>S | No |
ClinGen TOPMed |
|
|
rs1329450118 CA396279872 |
221 | A>V | No |
ClinGen gnomAD |
|
|
CA396280116 rs1418334204 |
224 | M>I | No |
ClinGen gnomAD |
|
|
rs1362856305 CA396280106 |
224 | M>R | No |
ClinGen gnomAD |
|
|
rs751507043 CA8110718 |
225 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA396280263 rs1567530603 |
231 | A>P | No |
ClinGen Ensembl |
|
|
rs868312024 CA282322862 |
233 | G>E | No |
ClinGen Ensembl |
|
|
CA396280360 rs1227445135 |
234 | T>S | No |
ClinGen gnomAD |
|
|
CA282322891 rs1020819233 |
239 | V>A | No |
ClinGen TOPMed |
|
|
CA8110725 rs768979343 |
239 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774789444 CA396280528 |
240 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8110726 rs774789444 |
240 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396280629 rs1336979864 |
243 | M>I | No |
ClinGen TOPMed |
|
|
rs1454287573 CA396280687 |
245 | T>I | No |
ClinGen TOPMed |
|
|
rs773349814 CA8110729 |
246 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs760799840 CA8110730 |
250 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1426446828 CA396280978 |
253 | W>C | No |
ClinGen gnomAD |
|
|
CA396281000 rs1416715864 |
254 | G>E | No |
ClinGen gnomAD |
|
|
CA396281035 rs1597563075 |
255 | V>F | No |
ClinGen Ensembl |
|
|
rs1466013464 CA396281095 |
257 | V>I | No |
ClinGen TOPMed |
|
|
rs1335605725 CA396281205 |
261 | Q>K | No |
ClinGen gnomAD |
|
|
CA396281233 rs1033239625 |
262 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1033239625 CA282322933 |
262 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs759849379 CA8110757 |
268 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1567530663 CA396281411 |
268 | E>K | No |
ClinGen Ensembl |
|
|
CA396281559 rs1197315006 |
269 | S>T | No |
ClinGen gnomAD |
|
|
rs113647714 CA282323151 |
273 | V>A | No |
ClinGen Ensembl |
|
|
rs140385822 CA8110760 |
273 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA282323184 rs1008771260 |
274 | G>R | No |
ClinGen TOPMed |
|
|
CA8110762 rs767540223 |
275 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396281766 rs1463686314 |
279 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 280 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1263624159 CA396281828 |
284 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8110763 rs750329377 |
285 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8110764 rs755689274 |
289 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396281907 rs1352435356 |
290 | E>G | No |
ClinGen TOPMed |
|
|
CA8110766 rs753289535 |
293 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA396281961 rs1338524811 |
293 | Q>R | No |
ClinGen gnomAD |
|
|
rs1201806169 CA396281974 |
294 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA396281994 rs1266286126 |
295 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs895642778 CA282323259 |
296 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1289702318 CA396282030 |
298 | D>G | No |
ClinGen gnomAD |
|
|
rs1041763732 CA282323263 |
298 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs974451846 CA282323278 |
301 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs368148949 CA8110771 |
303 | L>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8110773 rs771503556 |
304 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA8110776 COSM703859 rs745899701 |
307 | F>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA396282307 rs1157102897 |
309 | H>Q | No |
ClinGen TOPMed |
|
|
rs967686523 CA282323329 |
309 | H>Y | No |
ClinGen gnomAD |
|
|
rs775550503 CA396282332 |
310 | S>L | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8110778 rs775550503 |
310 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs564896195 CA8110781 |
312 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA8110782 rs564896195 |
312 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8110783 rs766239000 |
312 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432020173 CA396282462 |
315 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA396282439 rs1354878099 |
315 | M>T | No |
ClinGen gnomAD |
|
|
CA282323394 rs889138699 |
315 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs72650123 CA8110785 |
316 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753380214 CA8110784 |
316 | S>P | No |
ClinGen ExAC |
|
|
rs752264563 CA396282509 |
317 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 318 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8110788 rs758851857 |
318 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396282544 rs1256331018 |
319 | T>N | No |
ClinGen gnomAD |
|
|
CA8110789 rs368289229 |
322 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396282601 rs1404707913 |
322 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA396282633 rs140101035 |
323 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8110790 rs140101035 |
323 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757866803 CA8110791 |
324 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA396282701 rs1431549017 |
325 | I>M | No |
ClinGen TOPMed |
|
|
CA396282680 rs1274267641 |
325 | I>V | No |
ClinGen TOPMed |
|
|
CA282323436 rs972661378 |
326 | T>I | No |
ClinGen TOPMed |
|
|
rs1378377885 CA396282740 |
327 | D>E | No |
ClinGen gnomAD |
|
|
CA396282723 rs1160277550 |
327 | D>Y | No |
ClinGen gnomAD |
|
|
CA8110794 rs769729813 |
333 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs947889561 CA282323450 |
333 | R>W | No |
ClinGen gnomAD |
|
|
CA396282896 rs1425098339 |
334 | P>L | No |
ClinGen TOPMed |
|
|
CA282323462 rs879083099 |
334 | P>S | No |
ClinGen Ensembl |
|
|
CA8110795 rs375919297 |
335 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8110796 rs370615893 |
335 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA282323468 rs370615893 |
335 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396282945 rs768865429 |
336 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8110798 rs562756822 |
336 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768865429 CA8110797 |
336 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA282323483 rs28934593 |
337 | R>H | No |
ClinGen TOPMed |
|
|
rs121917781 CA396282974 |
337 | R>S | Apparent mineralocorticoid excess (ame) [Ensembl] | No |
ClinGen TOPMed |
|
CA396283968 rs1201342450 |
340 | P>L | No |
ClinGen gnomAD |
|
|
CA396283972 rs1457971757 |
341 | G>S | No |
ClinGen gnomAD |
|
|
CA396284030 rs1567530989 |
343 | G>S | No |
ClinGen Ensembl |
|
|
rs776530071 CA8110800 |
344 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA396284157 rs759131240 |
347 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759131240 CA8110802 |
347 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17855911 CA282328154 |
350 | I>T | No |
ClinGen Ensembl |
|
|
rs764653595 CA8110803 |
353 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA396284435 rs1467500007 |
356 | E>Q | No |
ClinGen Ensembl |
|
|
CA396284481 rs1175859951 |
357 | G>V | No |
ClinGen gnomAD |
|
|
COSM3717001 CA396284539 rs1373072453 |
359 | R>Q | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs373865007 CA8110806 |
359 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8110807 rs751992195 |
360 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1304090192 CA396284565 |
360 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8110808 rs757672682 |
361 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8110809 rs768176378 |
361 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750889664 CA8110810 |
362 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1262026356 CA396284582 |
362 | F>L | No |
ClinGen gnomAD |
|
|
CA396284686 rs1249341438 |
366 | F>L | No |
ClinGen gnomAD |
|
|
CA396284692 rs1480197458 |
366 | F>S | No |
ClinGen gnomAD |
|
|
CA396284688 rs1249341438 |
366 | F>V | No |
ClinGen gnomAD |
|
|
rs1479450534 CA396284785 |
371 | C>Y | No |
ClinGen gnomAD |
|
|
rs1198787173 CA396284810 |
372 | L>Q | No |
ClinGen gnomAD |
|
|
rs1041952668 CA282328209 |
372 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8110812 rs756275290 |
373 | P>R | No |
ClinGen ExAC gnomAD |
|
|
RCV000882891 rs45442297 CA8110813 |
374 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs749323350 CA8110814 |
375 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8110815 rs762518964 |
376 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA396284878 rs1412180947 |
377 | Q>* | No |
ClinGen TOPMed |
|
|
CA396284902 rs1416713545 |
377 | Q>H | No |
ClinGen TOPMed |
|
|
rs1167455066 CA396284923 |
378 | P>L | No |
ClinGen TOPMed |
|
|
CA396284940 rs1458706177 |
379 | G>D | No |
ClinGen gnomAD |
|
|
CA8110816 rs779061367 |
381 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA282328239 rs72650124 |
382 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs200789660 CA282328251 |
383 | T>A | No |
ClinGen Ensembl |
|
|
CA8110817 rs746858093 |
383 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs770686470 CA8110818 |
384 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597563655 CA396285124 |
384 | T>P | No |
ClinGen Ensembl |
|
|
rs776619955 CA8110819 |
385 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200569597 CA8110820 |
385 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8110821 rs769701488 |
386 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs45578842 CA8110824 |
388 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1489821140 CA396285193 |
388 | D>N | No |
ClinGen gnomAD |
|
|
CA8110825 rs145099420 |
389 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1478861866 CA396285293 |
389 | A>V | No |
ClinGen gnomAD |
|
|
CA396285296 rs1184898586 |
390 | A>T | No |
ClinGen gnomAD |
|
|
CA396285327 rs1419045110 |
391 | Q>* | No |
ClinGen gnomAD |
|
|
CA8110826 rs17853703 |
392 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA282328334 rs17853703 |
392 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1424674309 CA396285366 |
392 | D>Y | No |
ClinGen gnomAD |
|
|
CA8110828 rs45619232 |
395 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs552658636 CA8110829 |
396 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA8110830 rs766870207 |
396 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360556309 CA396285501 |
397 | P>S | No |
ClinGen gnomAD |
|
|
CA8110833 rs779149781 |
398 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs201045312 CA8110832 |
398 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396285553 rs1228542370 |
399 | P>A | No |
ClinGen gnomAD |
|
|
CA8110834 rs748368829 |
399 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA282328368 rs992069465 |
401 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA396285687 rs757105861 |
404 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 404 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8110835 rs757105861 |
404 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs745633134 CA396285727 |
405 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745633134 CA8110837 |
405 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8110836 rs780849837 |
405 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597563756 CA396285733 |
406 | R>G | No |
ClinGen Ensembl |
|
|
rs1241664202 CA396285746 |
406 | R>L | No |
ClinGen gnomAD |
|
|
CA396285758 rs1597563759 |
406 | R>W | No |
ClinGen Ensembl |
1 associated diseases with P80365
[MIM: 218030]: Apparent mineralocorticoid excess (AME)
An autosomal recessive form of low-renin hypertension. It is usually diagnosed within the first years of life and is characterized by polyuria and polydipsia, failure to thrive, hypernatremia, severe hypertension with low renin and aldosterone levels, profound hypokalemia with metabolic alkalosis, and most often nephrocalcinosis. {ECO:0000269|PubMed:10489390, ECO:0000269|PubMed:10523339, ECO:0000269|PubMed:11238516, ECO:0000269|PubMed:12788846, ECO:0000269|PubMed:17314322, ECO:0000269|PubMed:7593417, ECO:0000269|PubMed:7608290, ECO:0000269|PubMed:7670488, ECO:0000269|PubMed:8538347, ECO:0000269|PubMed:9398712, ECO:0000269|PubMed:9661590, ECO:0000269|PubMed:9683587, ECO:0000269|PubMed:9851783}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive form of low-renin hypertension. It is usually diagnosed within the first years of life and is characterized by polyuria and polydipsia, failure to thrive, hypernatremia, severe hypertension with low renin and aldosterone levels, profound hypokalemia with metabolic alkalosis, and most often nephrocalcinosis. {ECO:0000269|PubMed:10489390, ECO:0000269|PubMed:10523339, ECO:0000269|PubMed:11238516, ECO:0000269|PubMed:12788846, ECO:0000269|PubMed:17314322, ECO:0000269|PubMed:7593417, ECO:0000269|PubMed:7608290, ECO:0000269|PubMed:7670488, ECO:0000269|PubMed:8538347, ECO:0000269|PubMed:9398712, ECO:0000269|PubMed:9661590, ECO:0000269|PubMed:9683587, ECO:0000269|PubMed:9851783}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for P80365
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Short-chain dehydrogenase/reductase, conserved site | 219 - 247 | IPR020904 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| lipid droplet | An intracellular non-membrane-bounded organelle comprising a matrix of coalesced lipids surrounded by a phospholipid monolayer. May include associated proteins. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| 11-beta-hydroxysteroid dehydrogenase (NAD+) activity | Catalysis of the reaction: an 11-beta-hydroxysteroid + NAD+ = an 11-oxosteroid + NADH + H+. |
| NAD binding | Binding to nicotinamide adenine dinucleotide, a coenzyme involved in many redox and biosynthetic reactions; binding may be to either the oxidized form, NAD+, or the reduced form, NADH. |
| oxidoreductase activity | Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. |
| steroid binding | Binding to a steroid, any of a large group of substances that have in common a ring system based on 1,2-cyclopentanoperhydrophenanthrene. |
| steroid dehydrogenase activity | Catalysis of an oxidation-reduction (redox) reaction in which one substrate is a sterol derivative. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| cortisol metabolic process | The chemical reactions and pathways involving cortisol, the steroid hormone 11-beta-17,21-trihydroxypregn-4-ene-3,20-dione. Cortisol is synthesized from cholesterol in the adrenal gland and controls carbohydrate, fat and protein metabolism and has anti-inflammatory properties. |
| female pregnancy | The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth. |
| glucocorticoid metabolic process | The chemical reactions and pathways involving glucocorticoids, hormonal C21 corticosteroids synthesized from cholesterol. Glucocorticoids act primarily on carbohydrate and protein metabolism, and have anti-inflammatory effects. |
| regulation of blood volume by renal aldosterone | The process in which the hormone aldosterone decreases the rate of diuresis and natriuresis resulting in increased blood volume. |
| response to food | 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 a food stimulus; food is anything which, when taken into the body, serves to nourish or build up the tissues or to supply body heat. |
| response to glucocorticoid | 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 a glucocorticoid stimulus. Glucocorticoids are hormonal C21 corticosteroids synthesized from cholesterol with the ability to bind with the cortisol receptor and trigger similar effects. Glucocorticoids act primarily on carbohydrate and protein metabolism, and have anti-inflammatory effects. |
| response to hypoxia | 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 a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
| response to insulin | 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 an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. |
| response to xenobiotic stimulus | 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 a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
| steroid metabolic process | The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q02337 | BDH1 | D-beta-hydroxybutyrate dehydrogenase, mitochondrial | Bos taurus (Bovine) | PR |
| O75452 | RDH16 | Retinol dehydrogenase 16 | Homo sapiens (Human) | PR |
| Q02338 | BDH1 | D-beta-hydroxybutyrate dehydrogenase, mitochondrial | Homo sapiens (Human) | PR |
| Q8NEX9 | SDR9C7 | Short-chain dehydrogenase/reductase family 9C member 7 | Homo sapiens (Human) | PR |
| Q9R092 | Hsd17b6 | 17-beta-hydroxysteroid dehydrogenase type 6 | Mus musculus (Mouse) | PR |
| O54753 | Hsd17b6 | 17-beta-hydroxysteroid dehydrogenase type 6 | Rattus norvegicus (Rat) | PR |
| P50233 | Hsd11b2 | 11-beta-hydroxysteroid dehydrogenase type 2 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MERWPWPSGG | AWLLVAARAL | LQLLRSDLRL | GRPLLAALAL | LAALDWLCQR | LLPPPAALAV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LAAAGWIALS | RLARPQRLPV | ATRAVLITGC | DSGFGKETAK | KLDSMGFTVL | ATVLELNSPG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AIELRTCCSP | RLRLLQMDLT | KPGDISRVLE | FTKAHTTSTG | LWGLVNNAGH | NEVVADAELS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PVATFRSCME | VNFFGALELT | KGLLPLLRSS | RGRIVTVGSP | AGDMPYPCLG | AYGTSKAAVA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LLMDTFSCEL | LPWGVKVSII | QPGCFKTESV | RNVGQWEKRK | QLLLANLPQE | LLQAYGKDYI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EHLHGQFLHS | LRLAMSDLTP | VVDAITDALL | AARPRRRYYP | GQGLGLMYFI | HYYLPEGLRR |
| 370 | 380 | 390 | 400 | ||
| RFLQAFFISH | CLPRALQPGQ | PGTTPPQDAA | QDPNLSPGPS | PAVAR |