Descriptions

The histone-lysine N-methyltransferase EZH2 (EZH2) is a catalytic subunit of the polycomb repressive complex 2 (PRC2) and is involved in histone methylation and transcriptional repression. Autoinhibition of EZH2 is achieved through the C-terminus folding back into the active site, effectively blocking substrate engagement. This conformational state is inactive, preventing enzymatic activity and ensuring EZH2 only functions when properly complexed, preventing aberrant methylation activity. The inhibited activity of EZH2 could be alleviated by interactions with its binding partners EED and SUZ12, which could induce a conformational change in EZH2

Autoinhibitory domains (AIDs)

Target domain

647-732 (Active sites of SET domain)

Relief mechanism

Partner binding, Ligand binding

Assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

5 structures for Q92800

Entry ID Method Resolution Chain Position Source
7KSO EM 390 A A 1-747 PDB
7KSR EM 410 A A 1-747 PDB
7KTP EM 480 A A 1-747 PDB
7TD5 X-ray 299 A A/F 1-747 PDB
AF-Q92800-F1 Predicted AlphaFoldDB

436 variants for Q92800

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV001255619
rs2053293877
RCV003294165
678 A>G EZH1-neurodevelopmental syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
rs746093812 3 I>M No ExAC
TOPMed
gnomAD
rs2053881433 4 P>A No Ensembl
rs1597855392 5 N>I No Ensembl
rs1413076086 6 P>H No TOPMed
gnomAD
rs376554057 7 P>A No ESP
ExAC
TOPMed
gnomAD
rs867508196 9 S>F No TOPMed
gnomAD
TCGA novel 12 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1389999641 12 I>V No gnomAD
TCGA novel 14 Y>G Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM706273 21 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs778710525 23 Y>H No ExAC
gnomAD
rs2053880202 24 M>T No Ensembl
COSM979608 25 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3819665
rs1693554854
27 R>* Variant assessed as Somatic; HIGH impact. breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
TOPMed
rs754966338 27 R>Q No ExAC
TCGA novel 28 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs753285574 29 L>I No ExAC
TOPMed
gnomAD
rs760277636 31 R>Q No ExAC
gnomAD
rs765876793 31 R>W No ExAC
TOPMed
gnomAD
rs767244181 33 Q>* No ExAC
gnomAD
COSM706274 33 Q>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2053879425 35 N>D No Ensembl
rs1194330891 36 M>I No gnomAD
rs2053879320 36 M>V No TOPMed
rs969050561 40 A>T No TOPMed
gnomAD
rs1209219306 41 L>V No TOPMed
gnomAD
rs755595172 42 Y>H No ExAC
gnomAD
rs2053850227 43 V>L No TOPMed
gnomAD
rs2053850171 44 A>V No TOPMed
rs1267102173 48 K>E No gnomAD
rs749985288 49 V>F No ExAC
gnomAD
rs749985288 49 V>I No ExAC
gnomAD
rs1349278047 50 Q>R No gnomAD
rs138789077 51 E>K No ESP
ExAC
TOPMed
gnomAD
rs138789077 51 E>Q No ESP
ExAC
TOPMed
gnomAD
rs1597853439 52 K>E No Ensembl
rs761588489 52 K>R No ExAC
TOPMed
gnomAD
TCGA novel
rs2053849579
53 T>N Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs267604889 54 Q>* No Ensembl
rs1386478282 57 N>H No TOPMed
gnomAD
rs145586889 57 N>S No ESP
ExAC
TOPMed
gnomAD
COSM4832954
rs867021719
58 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs1439142197 60 W>* No Ensembl
TCGA novel 63 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs917590262 64 R>C No TOPMed
gnomAD
rs770961875 64 R>H No ExAC
TOPMed
gnomAD
rs199830078 68 V>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs199830078 68 V>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs1284876132 69 Q>R No TOPMed
gnomAD
rs1197942975 70 S>A No gnomAD
rs1197942975 70 S>P No gnomAD
rs2053847916 71 M>I No Ensembl
rs1291958592 71 M>R No gnomAD
rs140377472 71 M>V No ESP
ExAC
TOPMed
gnomAD
rs199753838 73 P>T No 1000Genomes
gnomAD
rs773976800 74 V>M No ExAC
TOPMed
gnomAD
rs768459667 75 S>G No ExAC
TOPMed
gnomAD
rs530196145 75 S>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs200504064 75 S>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs530196145 75 S>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs2053847380 76 G>R No Ensembl
rs745361319 78 P>L No ExAC
TOPMed
gnomAD
TCGA novel 78 P>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs146736585 78 P>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1319202364 79 F>C No gnomAD
rs780768939 80 L>P No ExAC
gnomAD
rs756796549 81 K>T No ExAC
gnomAD
rs769663372 83 C>R No ExAC
gnomAD
rs1567998201 85 I>T No Ensembl
rs1335187211 85 I>V No gnomAD
rs780531216 88 I>F No ExAC
gnomAD
rs868175843 89 F>C No Ensembl
rs1396708479 90 P>L No TOPMed
gnomAD
rs1451105979 90 P>S No TOPMed
rs1015659917 91 G>E No Ensembl
rs372139294 92 F>S No ESP
ExAC
TOPMed
gnomAD
rs777539005 95 Q>H No ExAC
gnomAD
rs1482022257 96 H>N No gnomAD
rs534076480 96 H>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs765698931 97 M>I No ExAC
TOPMed
gnomAD
rs768571484 97 M>K No gnomAD
rs753051260 97 M>L No ExAC
TOPMed
gnomAD
rs768571484 97 M>T No gnomAD
rs369111500 100 R>G No ESP
ExAC
TOPMed
gnomAD
rs150134802 101 S>L No ESP
TOPMed
gnomAD
rs754390812 103 N>K No ExAC
gnomAD
rs2053775416 104 T>I No Ensembl
rs1300525501 106 A>E No gnomAD
TCGA novel 109 P>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1000322448 109 P>S No TOPMed
gnomAD
rs1158866506 111 M>R No TOPMed
rs766839992 111 M>V No ExAC
gnomAD
TCGA novel 114 W>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2053774861 116 P>S No gnomAD
rs2143812737 117 L>P No Ensembl
rs1284834316 119 Q>* No gnomAD
rs773344466 120 N>I No ExAC
gnomAD
rs1470814709
COSM1578670
122 M>I meninges [Cosmic] No cosmic curated
gnomAD
rs780604960 123 V>I No ExAC
gnomAD
rs756635466 127 T>M No ExAC
TOPMed
gnomAD
TCGA novel 129 L>C Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2053743404 129 L>V No Ensembl
rs2053743331 129 L>W No Ensembl
rs2053743058 139 V>A No TOPMed
rs2053743124 139 V>M No Ensembl
COSM979606 142 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1252172630 145 T>N No gnomAD
TCGA novel 146 F>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 146 F>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs761988205 147 I>V No ExAC
rs748670427 152 N>S No TOPMed
gnomAD
rs944543032 158 V>I No Ensembl
rs759344526
COSM979605
162 E>* Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs763144680 164 M>I No ExAC
gnomAD
rs2053683338 166 P>S No Ensembl
rs766116813 169 V>I No ExAC
TOPMed
gnomAD
rs1472973980 172 S>N No gnomAD
rs906561674 174 A>T No TOPMed
gnomAD
COSM4916638 178 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1015592884 180 V>I No TOPMed
gnomAD
rs1597843195 181 D>G No Ensembl
rs541410310 181 D>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs1369771439 185 Q>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs2053682254 192 E>K No Ensembl
rs773788984 194 H>D No ExAC
gnomAD
rs773788984 194 H>Y No ExAC
gnomAD
rs150955298 195 N>S No ESP
TOPMed
gnomAD
rs1465203821 196 D>G No gnomAD
rs933531876 197 T>A No Ensembl
rs1378626218 197 T>I No TOPMed
gnomAD
rs768293257 198 S>A No ExAC
TOPMed
gnomAD
rs1380880034 199 D>G No TOPMed
gnomAD
rs748900681 199 D>N No ExAC
gnomAD
rs2053681530 203 D>E No Ensembl
rs1048976029 203 D>N No TOPMed
gnomAD
rs2143795687 205 S>N No Ensembl
rs2053681461 206 K>E No Ensembl
rs892174481 208 D>N No TOPMed
rs1052201410 208 D>V No Ensembl
rs770171359 210 P>S No ExAC
gnomAD
rs1200145415 211 V>L No TOPMed
gnomAD
rs924951980 212 T>A No Ensembl
COSM6081288 214 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs746283926 214 K>Q No ExAC
gnomAD
rs781642151 217 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs773742282 217 R>L No TOPMed
gnomAD
rs773742282 217 R>Q No TOPMed
gnomAD
rs1339732674 219 A>P No gnomAD
rs1296856855 220 I>V No TOPMed
gnomAD
rs757829145 221 E>Q No ExAC
gnomAD
rs1225419026 223 N>K No TOPMed
gnomAD
rs769480255 225 K>T No ExAC
TOPMed
gnomAD
rs746226793 226 S>R No ExAC
TOPMed
gnomAD
rs2053659986 226 S>T No Ensembl
rs777039568 228 K>M No ExAC
gnomAD
rs777039568 228 K>R No ExAC
gnomAD
rs1482782029 230 Q>P No TOPMed
rs1482782029 230 Q>R No TOPMed
rs1597841742 234 D>V No Ensembl
rs1597841738 235 M>I No Ensembl
rs2053659650 236 I>T No TOPMed
rs1350309722 237 F>V No gnomAD
rs1597841699 243 M>V No Ensembl
rs1419961479 249 V>I No TOPMed
rs1163780709 254 K>* No TOPMed
TCGA novel 255 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1366545814 255 E>Q No TOPMed
gnomAD
rs2053659096 256 R>K No TOPMed
rs751414770 258 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs751414770 258 R>G No ExAC
gnomAD
rs777571053 258 R>Q No ExAC
gnomAD
rs537354614 261 T>I No gnomAD
rs1490375435 263 M>V No TOPMed
rs1555648569 265 D>H No Ensembl
rs1235417794 266 P>S No gnomAD
rs201328092 267 N>I No ExAC
TOPMed
gnomAD
rs201328092 267 N>S No ExAC
TOPMed
gnomAD
rs184297654 268 A>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1434480858 269 L>F No gnomAD
rs1160632888 269 L>R No TOPMed
rs1405243290 270 P>L No TOPMed
rs766058759 271 P>T No ExAC
TOPMed
gnomAD
rs933828283 272 Q>E No Ensembl
rs2143788352 274 T>P No Ensembl
rs1367464176 275 P>R No TOPMed
rs1401708007 277 I>V No gnomAD
rs1307567740 278 D>G No TOPMed
rs867221826 278 D>N No Ensembl
rs2053648071 279 G>D No Ensembl
rs2053647897 281 N>D No Ensembl
rs772397566 281 N>I No ExAC
TOPMed
gnomAD
rs772397566 281 N>S No ExAC
TOPMed
gnomAD
rs762383115 282 A>T No ExAC
gnomAD
TCGA novel 285 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1217556849 287 R>Q No gnomAD
COSM1195434
rs2053647589
287 R>W lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
TOPMed
rs1277427428 288 E>K No TOPMed
gnomAD
rs2053647003 300 R>W No Ensembl
rs780395800 301 R>C No ExAC
TOPMed
gnomAD
rs780395800 301 R>G No ExAC
TOPMed
gnomAD
rs768296055 301 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs770125478 306 D>N No ExAC
gnomAD
rs923918969 311 P>A No TOPMed
gnomAD
rs923918969 311 P>S No TOPMed
gnomAD
TCGA novel 313 H>M Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1224911337 313 H>P No TOPMed
gnomAD
COSM5590846 313 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1220002873 321 R>C No TOPMed
gnomAD
rs2143786003 321 R>H No Ensembl
COSM70667 322 K>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2143785979 323 N>I No Ensembl
COSM979604 325 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM4066640
rs1597840052
325 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs1055400007 326 I>S No Ensembl
rs1273862752 328 I>T No gnomAD
COSM300766 329 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs746107510 332 P>R No ExAC
gnomAD
COSM417508 335 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM979603 339 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1308909144 342 E>V No TOPMed
gnomAD
rs2053527809 346 E>D No Ensembl
rs765391947 349 M>I No ExAC
gnomAD
rs2053527653 349 M>V No gnomAD
rs1278569083 353 P>R No Ensembl
rs1017280875 354 R>C No TOPMed
rs1287970047 354 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs2053527331 355 S>C No gnomAD
rs776879514 356 K>R No ExAC
TOPMed
gnomAD
rs1346546310 357 C>F No gnomAD
rs987962156 358 S>A No TOPMed
gnomAD
TCGA novel 359 G>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1454055017 360 R>C No gnomAD
rs1396223464 361 R>H No TOPMed
gnomAD
rs747924624 362 R>G No ExAC
gnomAD
rs774145217 362 R>Q No ExAC
TOPMed
gnomAD
rs747924624 362 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1271888733 363 R>K No TOPMed
gnomAD
rs1205739115 365 H>N No gnomAD
COSM3517752 366 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2053526498 367 I>T No TOPMed
rs768509416 367 I>V No ExAC
rs2053526344 369 S>G No TOPMed
COSM239760
rs1254416020
371 S>F prostate [Cosmic] No cosmic curated
gnomAD
rs2053526210 372 C>Y No TOPMed
rs1222450711 373 S>C No Ensembl
rs2053526016 374 N>D No TOPMed
rs779379403 374 N>S No ExAC
rs2053525872 375 A>S No TOPMed
rs755626306 379 A>S No ExAC
TOPMed
gnomAD
COSM1470990 383 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1162687116 383 T>I No TOPMed
TCGA novel 385 E>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2053525409 385 E>D No Ensembl
COSM3932609 385 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs757033020 391 D>E No ExAC
gnomAD
rs1405415826 397 A>P No TOPMed
TCGA novel 397 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 402 E>G Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2053503190 403 A>S No TOPMed
COSM3517751 405 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs779458965 406 R>C No ExAC
TOPMed
gnomAD
RCV001028098
rs1597832055
406 R>H No ClinVar
Ensembl
dbSNP
COSM1493875 415 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs531032842 417 P>A No 1000Genomes
ExAC
gnomAD
rs915978630 418 A>S No Ensembl
rs1475668758 419 P>L No gnomAD
rs766476524 419 P>S No ExAC
gnomAD
rs2053502153 420 P>R No TOPMed
rs1259830470 420 P>S No gnomAD
rs750620982 423 C>S No ExAC
gnomAD
COSM3378203
rs139326526
424 V>I pancreas [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1481352061 425 V>A No gnomAD
rs1481352061 425 V>E No gnomAD
rs2053501682 425 V>M No Ensembl
rs374952991
COSM1734428
429 S>L pancreas [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs374952991 429 S>W No ESP
ExAC
TOPMed
gnomAD
rs1450434474 431 P>T No Ensembl
rs1758652458 432 V>M No TOPMed
gnomAD
rs2053500950 434 W>* No TOPMed
rs1237409185 436 G>R No gnomAD
rs2053500623 440 S>C No Ensembl
COSM175634 443 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM4772566
rs2053500378
443 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
rs1335538743 444 V>D No gnomAD
rs1393619685 445 F>L No gnomAD
rs1330190644 445 F>L No TOPMed
gnomAD
rs770590331 446 H>R No ExAC
TOPMed
gnomAD
rs2053499896 447 G>S No gnomAD
rs1420314373 451 N>D No gnomAD
rs1420314373 451 N>H No gnomAD
rs2053499578 452 N>S No Ensembl
TCGA novel 454 C>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs377297295 458 R>K No ESP
ExAC
gnomAD
TCGA novel 460 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs755471626 461 G>E No ExAC
TOPMed
gnomAD
rs2053499081 463 K>R No Ensembl
TCGA novel 465 C>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs372323124 466 K>N No ESP
ExAC
TOPMed
gnomAD
rs751756992 468 V>D No ExAC
gnomAD
rs757460665 468 V>I No ExAC
gnomAD
rs867755265 472 A>V No Ensembl
rs1567986718 474 K>R No Ensembl
rs1421355777 476 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1345682259 478 I>T No gnomAD
rs754701931 479 L>M No ExAC
TOPMed
gnomAD
rs1597828379 480 K>N No Ensembl
TCGA novel 484 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 487 M>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM4399728 489 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1352413655 491 Q>E No TOPMed
rs766358599 491 Q>P No ExAC
gnomAD
TCGA novel 494 K>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 495 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1567986094 501 A>S No gnomAD
rs2053417662 502 A>S No TOPMed
TCGA novel 506 K>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1326758482 507 I>M No gnomAD
rs763625751 514 S>A No ExAC
TOPMed
gnomAD
rs762544916 514 S>C No ExAC
TOPMed
gnomAD
rs763625751 514 S>P No ExAC
TOPMed
gnomAD
rs762544916 514 S>Y No ExAC
TOPMed
gnomAD
rs759893146 520 N>K No ExAC
gnomAD
rs777114649 522 Q>K No ExAC
TOPMed
gnomAD
rs771273602 523 P>S No ExAC
TOPMed
gnomAD
rs771273602 523 P>T No ExAC
TOPMed
gnomAD
rs1288124928 525 D>H No gnomAD
rs78868021 526 H>P No Ensembl
rs1231964303 527 P>R No gnomAD
rs1597825774 528 D>A No Ensembl
rs772252090 529 R>C No ExAC
gnomAD
rs201655400
COSM187130
529 R>H Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs769056328 530 P>A No ExAC
TOPMed
gnomAD
rs745590031 530 P>H No ExAC
TOPMed
gnomAD
rs769056328 530 P>S No ExAC
TOPMed
gnomAD
rs769056328 530 P>T No ExAC
TOPMed
gnomAD
rs781046699 533 S>C No ExAC
gnomAD
rs1597825721 534 T>P No Ensembl
rs746989137 539 M>I No ExAC
TOPMed
gnomAD
rs757105069 539 M>L No ExAC
gnomAD
rs1231363629 544 C>Y No gnomAD
TCGA novel 545 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1209877146 552 P>A No TOPMed
gnomAD
COSM3189285
rs777686988
557 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs905112048 557 R>H No gnomAD
COSM3517750 559 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs747602257 562 R>C No ExAC
gnomAD
COSM6147034 565 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs112755289 566 Q>R No Ensembl
rs754534718 569 T>A No ExAC
gnomAD
rs2143717314 570 K>N No Ensembl
rs753501930 575 Y>H No ExAC
gnomAD
COSM1325064 575 Y>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3517749 577 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM979599 579 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1597823337 587 L>P No Ensembl
rs1319563348 594 H>P No gnomAD
rs2053348380 594 H>Y No TOPMed
rs950048437
COSM706278
595 W>* lung Variant assessed as Somatic; HIGH impact. [Cosmic, NCI-TCGA] No cosmic curated
TOPMed
NCI-TCGA Cosmic
rs2053348146 595 W>C No Ensembl
rs917276552 596 D>H No TOPMed
gnomAD
rs917276552 596 D>N No TOPMed
gnomAD
COSM1383433 598 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1233121758 599 V>L No gnomAD
rs1315493653 600 V>I No TOPMed
gnomAD
rs1390188269 602 C>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
TCGA novel 603 K>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs750875720 604 N>S No ExAC
gnomAD
rs768077916 605 C>Y No ExAC
gnomAD
rs1399584136 606 S>N No TOPMed
TCGA novel 608 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs748173627 609 R>H No gnomAD
rs1474779637 611 L>I No gnomAD
TCGA novel 615 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1287411309 624 G>R No gnomAD
COSM1383432 625 W>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1371312646 629 I>V No TOPMed
rs757206193 632 S>P No TOPMed
gnomAD
TCGA novel 632 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1468755074 633 V>M No TOPMed
gnomAD
TCGA novel 634 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM4847816 635 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1316478374
COSM280912
637 E>K Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1159977413 639 I>V No TOPMed
gnomAD
COSM3370737 642 Y>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2053324997 643 C>G No TOPMed
rs1013373536 644 G>A No TOPMed
gnomAD
rs771829365 644 G>R No ExAC
gnomAD
rs376492983 654 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
rs774028217 655 R>C No ExAC
gnomAD
COSM979598 655 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM436648 655 R>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 656 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2053313351 657 K>T No TOPMed
gnomAD
rs1165600748 661 K>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1201520847 663 M>I No gnomAD
rs1423816665 663 M>R No gnomAD
rs1423816665 663 M>T No gnomAD
rs1684131251 663 M>V No Ensembl
rs2143709127 664 S>C No Ensembl
rs2053312795 666 F>L No TOPMed
gnomAD
rs2053312732 669 N>D No TOPMed
rs2053312661 671 N>K No TOPMed
rs1246184458 682 G>A No TOPMed
gnomAD
COSM269124 685 I>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1177177
rs1458266017
686 R>* Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
COSM349331 686 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 690 H>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM1521500
rs775259824
COSM6147035
692 V>L lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs2053293182 694 P>L No Ensembl
rs2053293002 696 C>R No TOPMed
gnomAD
rs2053274971 700 V>A No gnomAD
rs2053274739 707 H>Q No TOPMed
rs760268061 707 H>Y No ExAC
gnomAD
rs2053274654 708 R>Q No TOPMed
rs1181566122 714 K>N No gnomAD
rs2143701528 715 R>G No Ensembl
rs946695802 715 R>T No TOPMed
gnomAD
rs1426226188 717 I>V No gnomAD
COSM4066636 719 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1260794915
COSM74564
721 E>K ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
TCGA novel 730 S>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs865941092 732 A>S No Ensembl
rs868468000 735 L>F No TOPMed
gnomAD
rs868468000 735 L>I No TOPMed
gnomAD
rs1460480684 738 V>M No gnomAD
rs2053264701 740 I>T No Ensembl
rs866623552 741 E>* No gnomAD
rs866623552 741 E>K No gnomAD
rs902644962 743 E>* No TOPMed
gnomAD
rs866128457 743 E>D No Ensembl
rs902644962 743 E>Q No TOPMed
gnomAD
rs760086887 745 D>E No ExAC
gnomAD
rs138757221 745 D>N No ESP
ExAC
TOPMed
gnomAD
rs532006849 746 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1405057211 747 L>P No gnomAD

No associated diseases with Q92800

9 regional properties for Q92800

Type Name Position InterPro Accession
domain SANT/Myb domain 135 - 263 IPR001005-1
domain SANT/Myb domain 430 - 478 IPR001005-2
domain SET domain 613 - 734 IPR001214
domain CXC domain 504 - 606 IPR026489
domain Tesmin/TSO1-like CXC domain 556 - 593 IPR033467
domain Polycomb repressive complex 2 subunit EZH1/EZH2, tri-helical domain 159 - 262 IPR041343
domain Pre-SET CXC domain 560 - 591 IPR041355
domain EZH1, SET domain 608 - 743 IPR044438
domain EZH1/2, MCSS domain 270 - 322 IPR048358

Functions

Description
EC Number 2.1.1.356 Methyltransferases
Subcellular Localization
  • Nucleus
  • Colocalizes with trimethylated 'Lys-27' of histone H3
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
chromosome, telomeric region The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres).
ESC/E(Z) complex A multimeric protein complex that can methylate lysine-27 and lysine-9 residues of histone H3. In Drosophila the core subunits of the complex include ESC, E(Z), CAF1 (NURF-55) and SU(Z)12. In mammals the core subunits of the complex include EED, EZH2, SUZ12 and RBBP4.
heterochromatin A compact and highly condensed form of chromatin that is refractory to transcription.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

6 GO annotations of molecular function

Name Definition
chromatin binding Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
histone H3K27 methyltransferase activity Catalysis of the reaction
histone H3K27 trimethyltransferase activity Catalysis of the reaction
molecular condensate scaffold activity Binding and bringing together two or more macromolecules in contact, permitting those molecules to organize as a molecular condensate.
nucleosome binding Binding to a nucleosome, a complex comprised of DNA wound around a multisubunit core and associated proteins, which forms the primary packing unit of DNA into higher order structures.
transcription corepressor activity A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators.

8 GO annotations of biological process

Name Definition
anatomical structure morphogenesis The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form.
chromatin remodeling A dynamic process of chromatin reorganization resulting in changes to chromatin structure. These changes allow DNA metabolic processes such as transcriptional regulation, DNA recombination, DNA repair, and DNA replication.
heterochromatin formation An epigenetic gene silencing mechanism in which chromatin is compacted into heterochromatin, resulting in a chromatin conformation refractory to transcription. This process starts with heterochromatin nucleation, its spreading, and ends with heterochromatin boundary formation.
hippocampus development The progression of the hippocampus over time from its initial formation until its mature state.
methylation The process in which a methyl group is covalently attached to a molecule.
negative regulation of transcription by RNA polymerase II Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
subtelomeric heterochromatin formation The compaction of chromatin into heterochromatin at the subtelomeric region.

8 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A7E2Z2 EZH1 Histone-lysine N-methyltransferase EZH1 Bos taurus (Bovine) SS
P42124 E(z) Histone-lysine N-methyltransferase E Drosophila melanogaster (Fruit fly) SS
Q15910 EZH2 Histone-lysine N-methyltransferase EZH2 Homo sapiens (Human) EV
Q61188 Ezh2 Histone-lysine N-methyltransferase EZH2 Mus musculus (Mouse) SS
P70351 Ezh1 Histone-lysine N-methyltransferase EZH1 Mus musculus (Mouse) SS
O65312 MEA Histone-lysine N-methyltransferase MEDEA Arabidopsis thaliana (Mouse-ear cress) PR
Q28D84 ezh2 Histone-lysine N-methyltransferase EZH2 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) SS
Q08BS4 ezh2 Histone-lysine N-methyltransferase EZH2 Danio rerio (Zebrafish) (Brachydanio rerio) SS
10 20 30 40 50 60
MEIPNPPTSK CITYWKRKVK SEYMRLRQLK RLQANMGAKA LYVANFAKVQ EKTQILNEEW
70 80 90 100 110 120
KKLRVQPVQS MKPVSGHPFL KKCTIESIFP GFASQHMLMR SLNTVALVPI MYSWSPLQQN
130 140 150 160 170 180
FMVEDETVLC NIPYMGDEVK EEDETFIEEL INNYDGKVHG EEEMIPGSVL ISDAVFLELV
190 200 210 220 230 240
DALNQYSDEE EEGHNDTSDG KQDDSKEDLP VTRKRKRHAI EGNKKSSKKQ FPNDMIFSAI
250 260 270 280 290 300
ASMFPENGVP DDMKERYREL TEMSDPNALP PQCTPNIDGP NAKSVQREQS LHSFHTLFCR
310 320 330 340 350 360
RCFKYDCFLH PFHATPNVYK RKNKEIKIEP EPCGTDCFLL LEGAKEYAML HNPRSKCSGR
370 380 390 400 410 420
RRRRHHIVSA SCSNASASAV AETKEGDSDR DTGNDWASSS SEANSRCQTP TKQKASPAPP
430 440 450 460 470 480
QLCVVEAPSE PVEWTGAEES LFRVFHGTYF NNFCSIARLL GTKTCKQVFQ FAVKESLILK
490 500 510 520 530 540
LPTDELMNPS QKKKRKHRLW AAHCRKIQLK KDNSSTQVYN YQPCDHPDRP CDSTCPCIMT
550 560 570 580 590 600
QNFCEKFCQC NPDCQNRFPG CRCKTQCNTK QCPCYLAVRE CDPDLCLTCG ASEHWDCKVV
610 620 630 640 650 660
SCKNCSIQRG LKKHLLLAPS DVAGWGTFIK ESVQKNEFIS EYCGELISQD EADRRGKVYD
670 680 690 700 710 720
KYMSSFLFNL NNDFVVDATR KGNKIRFANH SVNPNCYAKV VMVNGDHRIG IFAKRAIQAG
730 740
EELFFDYRYS QADALKYVGI ERETDVL