Q6GMV2
PR
Gene name |
SMYD5 (RAI15) |
Protein name |
Histone-lysine N-trimethyltransferase SMYD5 |
Names |
Protein NN8-4AG, Retinoic acid-induced protein 15, SET and MYND domain-containing protein 5, [histone H4]-lysine20 N-trimethyltransferase SMYD5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10322 |
EC number |
2.1.1.372: Methyltransferases |
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 Q6GMV2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6GMV2-F1 | Predicted | AlphaFoldDB |
313 variants for Q6GMV2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA1710464 rs777237749 |
2 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1710465 rs746575983 |
2 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs776964396 CA1710467 |
4 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1710470 rs769997865 |
5 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1710469 rs769997865 |
5 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760094298 CA1710468 |
5 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA347243122 rs764458711 |
7 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1710471 rs763235222 |
7 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA49832997 rs906796784 |
8 | V>M | No |
ClinGen TOPMed |
|
|
rs751853646 CA1710474 |
9 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA347243146 rs1487807319 |
9 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs767636363 CA1710477 |
10 | S>F | No |
ClinGen ExAC |
|
|
COSM1532587 CA1710479 rs754998509 |
11 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1558549998 CA347243193 |
11 | F>S | No |
ClinGen Ensembl |
|
|
rs1206883150 CA347243216 |
12 | C>F | No |
ClinGen gnomAD |
|
|
CA1710483 rs777356218 |
15 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA49833044 rs1026360850 |
16 | A>E | No |
ClinGen TOPMed |
|
|
CA347243282 rs1026360850 |
16 | A>V | No |
ClinGen TOPMed |
|
|
CA347243301 rs1488045286 |
18 | R>S | No |
ClinGen TOPMed |
|
|
CA347243315 rs1476915629 |
19 | A>P | No |
ClinGen gnomAD |
|
|
CA347243313 rs1476915629 |
19 | A>T | No |
ClinGen gnomAD |
|
|
rs920570909 CA49833057 |
21 | V>G | No |
ClinGen Ensembl |
|
|
CA1710487 rs780768780 |
21 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA1710489 rs568134234 |
23 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs775974054 CA1710490 |
24 | E>K | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs1387188413 CA347243418 |
26 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
CA347243476 rs769169206 |
29 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs769169206 CA1710492 |
29 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA1710494 rs762105046 |
31 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359498610 CA347243538 |
32 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs754381864 CA1710528 |
34 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1710529 rs559072928 |
34 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1710530 rs559072928 |
34 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347244803 rs1415816524 |
41 | L>F | No |
ClinGen TOPMed |
|
|
COSM1022750 rs1429604796 CA347244816 |
43 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA1710533 rs778016033 |
43 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs186495859 CA347244825 CA49835428 |
44 | K>N | No |
ClinGen 1000Genomes TOPMed |
|
|
CA347244827 CA1710534 rs747204284 |
45 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1250073817 CA347244833 |
46 | E>* | No |
ClinGen TOPMed |
|
|
rs1178721487 CA347244843 |
47 | T>N | No |
ClinGen gnomAD |
|
|
CA1710538 rs768626058 |
50 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs762875553 CA1710537 |
50 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA49835444 rs762875553 |
50 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA49835458 rs1026721037 |
52 | R>Q | Variant assessed as Somatic; 4.638e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1710539 COSM1226924 rs373347931 |
52 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1263939716 CA347244879 |
53 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 56 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs904469093 CA49835462 |
57 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1344836530 CA347244904 |
58 | Q>E | No |
ClinGen gnomAD |
|
|
rs761625156 CA1710540 |
61 | W>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 62 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 62 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1308892917 CA347244945 |
63 | A>V | No |
ClinGen TOPMed |
|
|
CA1710542 rs750034066 |
66 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138461928 CA1710543 COSM1532585 |
66 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA347244962 rs138461928 |
66 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347244967 rs1481586457 |
67 | Y>C | No |
ClinGen gnomAD |
|
|
CA1710545 rs531020819 |
67 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764820120 CA49835472 |
68 | R>* | No |
ClinGen TOPMed |
|
|
CA347244972 rs1487080861 |
68 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1383105176 CA347245101 |
71 | D>A | No |
ClinGen gnomAD |
|
|
CA1710585 rs774932638 |
72 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1574340347 CA347245137 |
76 | A>V | No |
ClinGen Ensembl |
|
|
CA49836014 rs377202184 |
77 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA347245145 rs1215738896 |
78 | E>Q | No |
ClinGen gnomAD |
|
|
rs1024528920 CA49836025 |
79 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs752089598 CA1710588 |
80 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347245185 rs1574340358 |
83 | N>S | No |
ClinGen Ensembl |
|
|
CA49836037 rs906623808 |
84 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA347245194 rs757547290 |
85 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA1710589 rs757547290 |
85 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs368928880 CA1710591 |
89 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368928880 CA1710592 |
89 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1474960011 CA347245231 |
91 | P>A | No |
ClinGen gnomAD |
|
|
CA347245237 rs1216392551 |
92 | G>S | No |
ClinGen TOPMed |
|
|
CA1710593 rs780149418 |
93 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA347245250 rs1468124452 |
94 | V>L | No |
ClinGen gnomAD |
|
|
rs749374042 CA1710594 |
96 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA347245289 rs1487967921 |
100 | L>Q | No |
ClinGen gnomAD |
|
|
rs755109048 CA1710595 |
103 | V>M | No |
ClinGen ExAC gnomAD |
|
|
COSM271533 CA1710596 rs376603112 |
104 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1315779962 COSM285229 CA347245315 |
104 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA347245311 rs376603112 |
104 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1382926880 CA347245317 |
105 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 105 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA49836067 rs369055779 |
106 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 108 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs540787715 CA1710597 |
111 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347245372 rs1380186557 |
112 | P>R | No |
ClinGen TOPMed |
|
|
COSM1669036 rs1025683682 CA49836073 |
113 | H>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA347245389 rs1344202398 |
115 | Q>K | No |
ClinGen gnomAD |
|
|
CA1710613 rs750826999 |
117 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1221706477 CA347245436 |
119 | C>* | No |
ClinGen gnomAD |
|
|
rs1269481548 CA347245442 |
120 | S>T | No |
ClinGen gnomAD |
|
|
CA347245451 rs1453205710 |
121 | A>T | No |
ClinGen gnomAD |
|
|
CA347245488 rs1362644237 |
123 | C>F | No |
ClinGen gnomAD |
|
|
CA1710614 rs760927097 |
123 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA347245498 rs1159927621 |
124 | R>Q | No |
ClinGen gnomAD |
|
|
CA347245496 COSM195851 rs1470315017 |
124 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA347245513 rs1574340627 |
125 | L>W | No |
ClinGen Ensembl |
|
|
rs1383850728 CA347245528 |
126 | A>G | No |
ClinGen gnomAD |
|
|
rs1574340630 CA347245524 |
126 | A>P | No |
ClinGen Ensembl |
|
|
CA347245534 rs1167025443 |
127 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs766462014 CA1710615 |
127 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs754948317 CA1710617 |
132 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 134 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781106745 CA1710621 |
139 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs769658721 CA347245739 |
141 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA347245741 rs1244545626 COSM1226927 |
142 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs779504329 CA49836355 |
143 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779504329 CA1710624 |
143 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA49836363 rs201766809 |
144 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs201766809 CA347245771 |
144 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA347245784 rs1284079454 |
145 | L>V | No |
ClinGen TOPMed |
|
|
rs768138578 CA1710626 |
146 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA49836370 rs539085474 |
149 | N>S | No |
ClinGen gnomAD |
|
|
CA347245854 rs1289738998 |
150 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 150 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs115495075 CA1710628 RCV000911469 |
154 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA347245922 rs1443586455 |
155 | W>R | No |
ClinGen gnomAD |
|
|
CA347246014 rs1174374871 |
157 | S>G | No |
ClinGen gnomAD |
|
|
CA1710643 rs750375527 |
157 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs755804786 CA1710644 |
158 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1404135829 CA347246074 |
161 | P>S | No |
ClinGen gnomAD |
|
|
rs1262253378 CA347246120 |
164 | T>I | No |
ClinGen TOPMed |
|
|
rs778372554 CA1710649 |
165 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771600318 CA1710651 |
167 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747606301 CA1710650 |
167 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1710652 rs773527114 |
169 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs199565933 CA1710653 |
170 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA49836720 rs199565933 |
170 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1710654 rs771187729 |
171 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA347246212 rs1262786173 |
171 | A>V | No |
ClinGen gnomAD |
|
|
CA1710655 rs777120861 |
172 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA1710657 rs759804844 |
174 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759804844 CA1710656 |
174 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263035945 CA347246255 |
175 | A>T | No |
ClinGen gnomAD |
|
|
rs1574340908 CA347246284 |
177 | V>G | No |
ClinGen Ensembl |
|
|
CA347246306 rs1370517892 |
179 | Q>E | No |
ClinGen TOPMed |
|
|
CA1710660 rs764280608 |
179 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA49837034 rs1047810061 |
180 | A>S | No |
ClinGen TOPMed |
|
|
CA1710683 rs753802725 |
180 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1244266955 CA347247076 |
182 | D>N | No |
ClinGen gnomAD |
|
|
CA1710686 rs140784196 |
185 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140784196 CA347247123 |
185 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758113648 CA1710687 |
185 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347247131 rs1480347938 |
186 | W>R | No |
ClinGen gnomAD |
|
|
CA347247174 CA347247172 rs1310187008 |
188 | R>S | No |
ClinGen TOPMed |
|
|
rs777117610 CA1710688 |
189 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1710690 rs566438849 |
190 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1405941287 CA347247209 |
191 | S>F | No |
ClinGen gnomAD |
|
|
rs756745342 CA1710691 |
191 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA347247226 rs1574341257 |
192 | Q>H | No |
ClinGen Ensembl |
|
|
CA347247215 rs1352301468 |
192 | Q>K | No |
ClinGen gnomAD |
|
|
CA1710697 rs768971544 |
194 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746437130 CA1710696 |
194 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1710693 rs746387244 |
194 | C>G | No |
ClinGen ExAC |
|
|
CA49837065 rs746387244 |
194 | C>R | No |
ClinGen ExAC |
|
|
rs746437130 CA1710695 |
194 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1710698 rs768971544 |
194 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746437130 CA1710694 |
194 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1710701 rs61736525 |
195 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1710699 rs761911135 |
195 | N>T | No |
ClinGen ExAC |
|
|
rs75917342 CA1710702 |
197 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA1710703 rs765012873 |
198 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1710704 rs200903595 |
199 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347247352 rs1307374772 |
202 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1205344678 CA347247360 |
203 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 207 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1710705 rs149599785 |
209 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140745382 CA1710706 |
210 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751206693 CA1710707 |
210 | G>V | No |
ClinGen ExAC |
|
|
CA347247474 rs1417326327 |
212 | K>T | No |
ClinGen gnomAD |
|
|
rs1427811324 CA347247493 |
213 | F>L | No |
ClinGen gnomAD |
|
|
CA347247573 rs1401216986 |
215 | G>C | No |
ClinGen gnomAD |
|
|
rs1371943617 CA347247578 |
215 | G>D | No |
ClinGen TOPMed |
|
|
rs1300551619 CA347247587 |
216 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA347247598 rs1382353272 |
217 | L>V | No |
ClinGen gnomAD |
|
|
CA347247617 rs1343770608 |
218 | E>G | No |
ClinGen gnomAD |
|
|
rs940853051 CA49837406 |
219 | L>F | No |
ClinGen Ensembl |
|
|
CA347247639 rs1438043012 |
220 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA347247641 rs1438043012 |
220 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs116053390 CA1710726 COSM3407969 |
221 | R>Q | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs554531603 CA1710725 |
221 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA347247718 rs1487839656 COSM1409366 |
227 | A>S | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1487839656 CA347247716 |
227 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1710730 rs754305532 |
228 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA347247730 rs1265221959 |
228 | L>P | No |
ClinGen gnomAD |
|
|
CA1710731 rs755311219 |
229 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347247768 rs1416020901 |
231 | E>A | No |
ClinGen gnomAD |
|
|
rs748398772 CA1710733 |
232 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs758590737 CA1710734 |
233 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236579998 CA347247786 |
233 | V>L | No |
ClinGen Ensembl |
|
|
CA1710735 rs373674723 |
234 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347247817 rs1332050296 |
235 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA1710757 rs757273582 |
236 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs1028980365 CA49837635 |
238 | T>A | No |
ClinGen TOPMed |
|
|
CA49837638 rs151207637 |
239 | P>Q | No |
ClinGen ESP |
|
|
rs1285148980 CA347247909 |
239 | P>S | No |
ClinGen TOPMed |
|
|
rs749214782 CA1710760 |
240 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA347247939 rs1574341892 |
241 | G>E | No |
ClinGen Ensembl |
|
|
rs890159443 COSM1022751 CA49837647 |
243 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA1710763 rs774364470 |
243 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423571105 CA347247990 |
245 | L>R | No |
ClinGen gnomAD |
|
|
CA347248005 rs1370729171 |
246 | F>S | No |
ClinGen gnomAD |
|
|
CA347248020 rs1474692540 |
247 | A>D | No |
ClinGen gnomAD |
|
|
rs1558553003 CA347248033 |
248 | L>R | No |
ClinGen Ensembl |
|
|
rs772941717 CA1710765 |
249 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 251 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347248070 rs1558553008 |
252 | N>D | No |
ClinGen Ensembl |
|
|
rs760460690 CA49837656 |
256 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 257 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202244571 CA49837660 |
257 | G>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1401231025 CA347248147 |
257 | G>V | No |
ClinGen TOPMed |
|
|
CA49837827 rs911633515 |
265 | V>F | No |
ClinGen Ensembl |
|
|
CA1710797 rs775805795 |
266 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1172811573 CA347248483 |
267 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs764441764 CA1710800 |
268 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs751966644 CA1710801 |
269 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1052077825 CA49837839 |
269 | D>N | No |
ClinGen Ensembl |
|
|
rs913827540 CA49837846 |
271 | L>Q | No |
ClinGen gnomAD |
|
|
rs913827540 CA347248580 |
271 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 276 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1710804 rs767591949 |
276 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA1710805 rs189896673 |
278 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs61755313 CA1710806 |
278 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1710810 rs777688574 |
283 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1710811 rs140748262 |
285 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770791984 CA1710812 |
288 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs923771308 CA49837875 |
290 | K>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 291 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA49837877 rs1002028483 |
292 | I>V | No |
ClinGen gnomAD |
|
|
CA49838056 rs773182666 |
295 | A>V | No |
ClinGen Ensembl |
|
|
CA1710837 rs200366462 |
298 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA49838060 rs199578713 |
299 | F>Y | No |
ClinGen 1000Genomes |
|
|
rs1392790956 CA892832712 |
302 | C>* | No |
ClinGen TOPMed |
|
|
rs1380539446 CA347249543 |
302 | C>R | No |
ClinGen gnomAD |
|
|
rs1230472861 CA347249561 |
304 | G>E | No |
ClinGen gnomAD |
|
|
CA347249571 rs1175090276 |
306 | G>R | No |
ClinGen TOPMed |
|
|
rs774780316 CA1710838 |
307 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs772684042 CA1710862 |
314 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA347249641 rs1260970428 |
314 | C>Y | No |
ClinGen gnomAD |
|
|
rs910609305 CA49838377 |
315 | N>S | No |
ClinGen Ensembl |
|
|
rs747359238 CA1710864 |
317 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1171639944 CA347249671 |
318 | C>S | No |
ClinGen gnomAD |
|
|
CA347249675 rs1416537757 |
319 | V>M | No |
ClinGen gnomAD |
|
|
CA1710865 rs771428122 |
320 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1710866 rs368092715 |
321 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 323 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs954362556 CA49838391 |
324 | T>I | No |
ClinGen TOPMed |
|
|
rs765406963 CA1710870 |
325 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775682819 CA1710871 |
325 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA49838395 rs923523647 |
327 | P>L | No |
ClinGen Ensembl |
|
|
rs761637990 CA1710872 |
330 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA49838401 rs575560142 |
333 | L>V | No |
ClinGen Ensembl |
|
|
rs1017369366 CA49838404 |
334 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs760457937 CA1710875 |
335 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA1710877 rs753484130 |
341 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA49838413 rs1042661360 |
341 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs754664736 CA1710878 |
342 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA1710895 rs753681980 |
346 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1710897 rs143814696 |
348 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1710898 rs143814696 |
348 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377134667 CA1710900 |
349 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs976200442 CA49838612 |
349 | I>T | No |
ClinGen TOPMed |
|
|
rs377134667 CA1710899 |
349 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222303171 CA347249892 |
350 | S>R | No |
ClinGen TOPMed |
|
|
rs752105607 CA1710901 |
351 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs757882947 CA1710902 |
352 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs141935624 CA1710904 |
354 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141935624 CA1710903 |
354 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1710905 rs562039812 |
355 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1710907 rs749527360 |
357 | R>Q | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1710906 rs780261788 |
357 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA1710908 rs768775330 |
358 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1442396486 CA347249946 |
359 | R>G | No |
ClinGen gnomAD |
|
|
CA49838622 rs963050488 |
359 | R>H | No |
ClinGen TOPMed |
|
|
CA1710909 rs774332794 |
361 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs139106271 CA1710910 |
361 | R>H | Variant assessed as Somatic; 4.626e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA347249967 rs1169981912 |
362 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA347249966 rs1169981912 |
362 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs991007092 CA49838632 |
363 | S>G | No |
ClinGen gnomAD |
|
|
CA1710912 rs776581130 |
363 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs991007092 CA347249970 |
363 | S>R | No |
ClinGen gnomAD |
|
|
CA1710913 rs569292261 |
364 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1172894 rs764955963 CA1710914 |
364 | R>H | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1710915 rs775197546 |
366 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA347250027 rs1340560783 |
370 | E>K | No |
ClinGen gnomAD |
|
|
rs1340560783 CA347250028 |
370 | E>Q | No |
ClinGen gnomAD |
|
|
rs776502624 CA1710929 |
371 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA347250044 rs1281100997 |
372 | Y>H | No |
ClinGen TOPMed |
|
|
rs769599060 CA1710932 |
374 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA49838694 rs904417618 |
375 | V>I | No |
ClinGen TOPMed |
|
|
CA347250072 rs1282857084 |
376 | C>Y | No |
ClinGen gnomAD |
|
|
rs1411717325 CA347250080 |
377 | S>F | No |
ClinGen TOPMed |
|
|
CA49838699 rs888371605 |
378 | C>* | No |
ClinGen Ensembl |
|
| TCGA novel | 381 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347250115 rs1286918625 |
383 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs552822324 CA1710935 |
384 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774147506 CA1710936 |
389 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774147506 CA49838704 |
389 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1710940 rs767188458 |
393 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1710941 rs750932791 |
396 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1710946 rs756649321 |
399 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA49838720 rs1045421235 |
400 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1483992694 CA347250240 |
401 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 402 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1710948 rs766753741 |
404 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 406 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347250299 rs1375146093 |
409 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1710952 rs748391189 |
413 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1710954 rs777868848 |
415 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs745798112 CA1710955 |
419 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q6GMV2
Functions
| Description | ||
|---|---|---|
| EC Number | 2.1.1.372 | Methyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| histone methyltransferase activity (H4-K20 specific) | Catalysis of the reaction: S-adenosyl-L-methionine + histone H4 L-lysine (position 20) = S-adenosyl-L-homocysteine + histone H4 N6-methyl-L-lysine (position 20). This reaction is the addition of a methyl group onto lysine at position 20 of the histone H4 protein. |
| metal ion binding | Binding to a metal ion. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| histone H4-K20 trimethylation | The modification of histone H4 by addition of three methyl groups to lysine at position 20 of the histone. |
| negative regulation of gene expression, epigenetic | An epigenetic process that silences gene expression at specific genomic regions through chromatin remodelling either by modifying higher order chromatin fiber structure, nucleosomal histones, or the DNA. |
| negative regulation of transposition | Any process that decreases the frequency, rate or extent of transposition. Transposition results in the movement of discrete segments of DNA between nonhomologous sites. |
| regulation of stem cell differentiation | Any process that modulates the frequency, rate or extent of stem cell differentiation. |
| regulation of stem cell division | Any process that modulates the frequency, rate or extent of stem cell division. |
13 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q0P585 | SMYD2 | N-lysine methyltransferase SMYD2 | Bos taurus (Bovine) | SS |
| E1C5V0 | SMYD2 | N-lysine methyltransferase SMYD2 | Gallus gallus (Chicken) | SS |
| Q5ZIZ2 | SMYD5 | Histone-lysine N-trimethyltransferase SMYD5 | Gallus gallus (Chicken) | PR |
| Q9NRG4 | SMYD2 | N-lysine methyltransferase SMYD2 | Homo sapiens (Human) | SS |
| Q9H7B4 | SMYD3 | Histone-lysine N-methyltransferase SMYD3 | Homo sapiens (Human) | EV |
| Q8R5A0 | Smyd2 | N-lysine methyltransferase SMYD2 | Mus musculus (Mouse) | EV |
| Q9CWR2 | Smyd3 | Histone-lysine N-methyltransferase SMYD3 | Mus musculus (Mouse) | SS |
| Q3TYX3 | Smyd5 | Histone-lysine N-trimethyltransferase SMYD5 | Mus musculus (Mouse) | PR |
| C3RZA1 | SMYD2 | N-lysine methyltransferase SMYD2 | Sus scrofa (Pig) | SS |
| Q7M6Z3 | Smyd2 | N-lysine methyltransferase SMYD2 | Rattus norvegicus (Rat) | SS |
| P34318 | set-3 | SET domain-containing protein 3 | Caenorhabditis elegans | PR |
| Q5RGL7 | smyd2b | N-lysine methyltransferase SMYD2-B | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q5BJI7 | smyd2a | N-lysine methyltransferase SMYD2-A | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAASMCDVFS | FCVGVAGRAR | VSVEVRFVSS | AKGKGLFATQ | LIRKGETIFV | ERPLVAAQFL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| WNALYRYRAC | DHCLRALEKA | EENAQRLTGK | PGQVLPHPEL | CTVRKDLHQN | CPHCQVMYCS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AECRLAATEQ | YHQVLCPGPS | QDDPLHPLNK | LQEAWRSIHY | PPETASIMLM | ARMVATVKQA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KDKDRWIRLF | SQFCNKTANE | EEEIVHKLLG | DKFKGQLELL | RRLFTEALYE | EAVSQWFTPD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GFRSLFALVG | TNGQGIGTSS | LSQWVHACDT | LELKPQDREQ | LDAFIDQLYK | DIEAATGEFL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NCEGSGLFVL | QSCCNHSCVP | NAETSFPENN | FLLHVTALED | IKPGEEICIS | YLDCCQRERS |
| 370 | 380 | 390 | 400 | 410 | |
| RHSRHKILRE | NYLFVCSCPK | CLAEADEPNV | TSEEEEEEEE | EEEGEPEDAE | LGDEMTDV |