Descriptions

SmyD3 belongs to a new family of chromatin regulators, which is characterized by the presence of SET and MYND domains. The SET domain is an evolutionarily conserved domain largely responsible for histone lysine methylation, while the zinc-finger MYND domain is a protein-protein interaction module that mediates specific protein interaction via a proline-rich sequence. The C-terminal autoinhibitory domain (CTD) prevents substrate binding to SmyD3 by partially blocking the substrate-binding cleft. Upon binding to cofactors such as Hsp90, the CTD’s hinge motion leads to an open conformation, which opens the substrate-binding cleft in the SET domain, allowing the substrate to enter the protein’s active site.

Autoinhibitory domains (AIDs)

Target domain

182-245 (core SET domain)

Relief mechanism

Partner binding

Assay

Structural analysis, Deletion assay, Mutagenesis experiment

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

35 structures for Q9H7B4

Entry ID Method Resolution Chain Position Source
3MEK X-ray 210 A A 1-428 PDB
3OXF X-ray 282 A A/B 1-428 PDB
3OXG X-ray 341 A A 1-428 PDB
3OXL X-ray 360 A A 1-428 PDB
3PDN X-ray 170 A A 1-428 PDB
3QWP X-ray 153 A A 1-428 PDB
3RU0 X-ray 185 A A/B 2-428 PDB
5CCL X-ray 150 A A 1-428 PDB
5CCM X-ray 230 A A 1-428 PDB
5EX0 X-ray 270 A A 1-428 PDB
5EX3 X-ray 241 A A 1-428 PDB
5HI7 X-ray 215 A A 1-428 PDB
5HQ8 X-ray 172 A A/B 1-428 PDB
5V37 X-ray 142 A A 1-428 PDB
5XXD X-ray 231 A A 3-425 PDB
5XXG X-ray 214 A A 3-425 PDB
5XXJ X-ray 169 A A 3-425 PDB
5YJO X-ray 213 A A 3-425 PDB
6IJL X-ray 235 A A 1-428 PDB
6O9O X-ray 159 A A 1-428 PDB
6P6G X-ray 159 A A 1-428 PDB
6P6K X-ray 155 A A 1-428 PDB
6P7Z X-ray 119 A A 1-428 PDB
6PAF X-ray 124 A A 1-428 PDB
6YUH X-ray 193 A A 3-427 PDB
6ZRB X-ray 155 A A 1-428 PDB
7BJ1 X-ray 161 A A 1-428 PDB
7O2A X-ray 157 A A 1-428 PDB
7O2B X-ray 203 A A 1-428 PDB
7O2C X-ray 152 A A 1-428 PDB
7QLB X-ray 180 A A 1-428 PDB
7QNR X-ray 157 A A 1-428 PDB
7QNU X-ray 164 A A 1-428 PDB
8OWO X-ray 180 A A 1-428 PDB
AF-Q9H7B4-F1 Predicted AlphaFoldDB

350 variants for Q9H7B4

Variant ID(s) Position Change Description Diseaes Association Provenance
CA1489417
rs564201478
3 P>L No ClinGen
1000Genomes
ExAC
gnomAD
CA345682808
rs1173555543
8 K>N No ClinGen
gnomAD
CA41264326
rs375817241
9 F>L No ClinGen
ESP
TOPMed
rs1415684791
CA345682797
10 A>S No ClinGen
TOPMed
gnomAD
CA1489415
rs769846381
11 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs7520453
CA345682776
13 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs7520453
CA1489414
13 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1250245592
CA345682775
14 R>G No ClinGen
gnomAD
rs1189638141
CA345682769
14 R>S No ClinGen
gnomAD
CA345682763
rs1460995688
15 G>V No ClinGen
gnomAD
CA345682758
rs1212597775
16 N>S No ClinGen
gnomAD
CA345682754
rs1425917384
17 G>R No ClinGen
gnomAD
CA41264323
rs921753733
20 A>T No ClinGen
TOPMed
CA1489412
rs755429858
20 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1213885568
CA345682722
22 T>I No ClinGen
gnomAD
CA1489411
rs751814335
23 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1053726418
CA345682704
26 P>A No ClinGen
TOPMed
gnomAD
CA345682701
rs1300709771
26 P>L No ClinGen
gnomAD
CA41264321
rs1053726418
26 P>S No ClinGen
TOPMed
gnomAD
rs1053726418
CA345682705
26 P>T No ClinGen
TOPMed
gnomAD
rs758083478
CA1489409
29 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA345682680
rs1327639808
30 L>F No ClinGen
TOPMed
gnomAD
CA345682674
rs1392584196
31 F>V No ClinGen
gnomAD
CA345682665
rs1444398793
32 R>H No ClinGen
gnomAD
rs749974413
CA1489408
33 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1258460062
CA345682618
39 T>R No ClinGen
TOPMed
CA345682614
rs1232331112
40 V>M No ClinGen
gnomAD
rs1436295668
CA345682605
41 C>F No ClinGen
TOPMed
rs951420728
CA345682596
42 K>N No ClinGen
TOPMed
CA345682568
rs1481998131
47 V>I No ClinGen
gnomAD
rs908318300
CA41264312
48 V>I No ClinGen
TOPMed
gnomAD
rs1310375558
CA345682549
50 D>N No ClinGen
gnomAD
rs1047226031
CA345682540
51 R>C No ClinGen
TOPMed
gnomAD
rs1047226031
CA345682541
51 R>G No ClinGen
TOPMed
gnomAD
rs535565285
CA1489407
51 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA41264311
rs1047226031
51 R>S No ClinGen
TOPMed
gnomAD
CA41264310
rs920723170
53 L>F No ClinGen
Ensembl
CA345682522
rs1173838879
54 L>I No ClinGen
TOPMed
CA41264309
rs958944111
55 G>R No ClinGen
TOPMed
CA345682100
rs1457193098
56 K>R No ClinGen
TOPMed
CA1489381
rs371404366
57 E>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1206400285
CA345682087
58 K>* No ClinGen
gnomAD
CA1489380
rs146113064
59 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs913052633
CA41247089
59 L>V No ClinGen
TOPMed
gnomAD
CA345682076
rs1222390766
60 M>L No ClinGen
gnomAD
rs755583124
CA41247088
61 R>* No ClinGen
TOPMed
rs773483378
CA1489379
61 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs765320268
CA1489378
63 S>A No ClinGen
ExAC
CA41247087
rs1007512650
63 S>F No ClinGen
gnomAD
rs377664877
CA1489377
64 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1489376
rs138004389
66 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1489375
rs769227482
66 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA1489373
rs142323814
67 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746219350
CA1489371
68 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs537240797
CA1489370
69 K>R No ClinGen
1000Genomes
ExAC
gnomAD
rs756790322
CA1489369
70 Y>F No ClinGen
ExAC
gnomAD
rs1247136438
CA345682010
71 C>R No ClinGen
gnomAD
CA41247086
rs748856811
72 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA1489368
rs748856811
72 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs1202715678
CA345681982
75 C>R No ClinGen
gnomAD
CA1489350
rs200355534
79 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs575283307
CA1489348
80 W>G No ClinGen
1000Genomes
ExAC
gnomAD
rs1368868627
CA345682453
82 D>Y No ClinGen
gnomAD
rs992809841
CA41244930
84 K>R No ClinGen
TOPMed
rs1431606369
CA345682426
85 R>L No ClinGen
gnomAD
rs1431606369
CA345682427
85 R>Q No ClinGen
gnomAD
CA345682429
rs1306095883
85 R>W No ClinGen
gnomAD
CA345682423
rs1466763332
86 E>* No ClinGen
TOPMed
gnomAD
rs1471577909
CA345682415
87 C>G No ClinGen
gnomAD
rs1369843382
CA345682407
88 K>Q No ClinGen
gnomAD
CA1489344
rs751377672
89 C>Y No ClinGen
ExAC
gnomAD
CA345682394
rs1558408527
90 L>I No ClinGen
Ensembl
rs779762410
CA1489343
90 L>R No ClinGen
ExAC
gnomAD
CA1489342
rs148874023
92 S>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148874023
CA345682377
92 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1489341
rs754072764
94 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA41244929
rs999674703
94 K>T No ClinGen
TOPMed
gnomAD
CA1489340
rs201729065
95 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA345682336
rs1257689530
98 P>L No ClinGen
TOPMed
gnomAD
CA1489339
rs749442954
98 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs768165961
CA1489337
100 D>G No ClinGen
ExAC
gnomAD
CA1489338
rs752754685
100 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA1489336
rs545303768
101 S>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA345682317
rs771269963
102 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA1489334
rs771269963
102 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA1489332
rs772756510
103 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA1489331
rs143920876
103 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146150980
CA41244928
104 L>F No ClinGen
ESP
TOPMed
rs553309758
CA1489330
106 G>R No ClinGen
1000Genomes
ExAC
gnomAD
CA1489329
rs780632453
109 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA345682279
rs1392687888
109 V>F No ClinGen
TOPMed
gnomAD
CA345682281
rs1392687888
109 V>I No ClinGen
TOPMed
gnomAD
rs746988583
CA1489327
111 K>R No ClinGen
ExAC
gnomAD
rs757092220
CA1489304
115 G>R No ClinGen
ExAC
gnomAD
CA41244399
rs760578746
116 A>T No ClinGen
Ensembl
rs367777514
CA1489303
116 A>V No ClinGen
ESP
ExAC
gnomAD
rs1301277108
CA345682217
117 P>T No ClinGen
TOPMed
CA345682202
rs1162540624
119 E>A No ClinGen
gnomAD
rs1471779073
CA345682195
120 S>T No ClinGen
gnomAD
CA1489301
rs781556479
121 E>D No ClinGen
ExAC
gnomAD
CA345682178
rs1227395363
122 K>N No ClinGen
gnomAD
CA345682180
rs1572388866
122 K>R No ClinGen
Ensembl
CA345682174
rs1362854398
123 L>F No ClinGen
gnomAD
CA345682176
rs1362854398
123 L>I No ClinGen
gnomAD
rs755124699
CA1489300
123 L>R No ClinGen
ExAC
gnomAD
CA1489299
rs751593309
124 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA345682159
rs1225878202
125 S>L No ClinGen
TOPMed
CA1489297
rs1276776803
128 D>Y No ClinGen
TOPMed
CA41244398
rs534227319
131 S>* No ClinGen
1000Genomes
CA1489296
rs574670110
132 N>D No ClinGen
ExAC
gnomAD
CA41244397
rs574670110
132 N>H No ClinGen
ExAC
gnomAD
CA345681954
rs1405691170
132 N>K No ClinGen
TOPMed
CA1489283
rs770911084
132 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs781572915
CA345681950
133 I>N No ClinGen
ExAC
TOPMed
gnomAD
CA1489280
rs781572915
133 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA1489281
rs749038059
133 I>V No ClinGen
ExAC
gnomAD
rs1456264799
CA734121315
134 N>K* No ClinGen
TOPMed
CA345681927
rs1169643864
136 L>R No ClinGen
gnomAD
rs778688212
CA41244015
137 T>N No ClinGen
gnomAD
rs755188670
CA1489279
138 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs747083559
CA1489277
139 D>A No ClinGen
ExAC
gnomAD
CA345681908
rs1482052811
139 D>E No ClinGen
TOPMed
gnomAD
rs1204975935
CA345681871
145 R>G No ClinGen
gnomAD
rs756702699
CA41244013
148 V>I No ClinGen
TOPMed
gnomAD
rs1287191758
CA345681844
149 M>K No ClinGen
TOPMed
gnomAD
rs758379078
CA1489274
149 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA345681843
rs1287191758
149 M>T No ClinGen
TOPMed
gnomAD
rs758379078
CA41244012
149 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA41244011
rs990755928
150 T>A No ClinGen
Ensembl
CA345681828
rs1352877929
151 F>C No ClinGen
gnomAD
rs757629294
CA1489271
153 H>R No ClinGen
ExAC
gnomAD
rs763764600
CA1489269
154 F>L No ClinGen
ExAC
gnomAD
CA345681802
rs1558403692
155 M>K No ClinGen
Ensembl
rs144514515
CA1489267
155 M>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144514515
CA1489268
155 M>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144514515
CA345681803
155 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1411282278
CA345681788
157 E>Q No ClinGen
gnomAD
CA1489266
rs767090799
160 Q>K No ClinGen
ExAC
gnomAD
rs1471536724
CA345681755
161 D>G No ClinGen
gnomAD
rs1456376983
CA345681751
162 A>S No ClinGen
TOPMed
CA345681750
rs1456376983
162 A>T No ClinGen
TOPMed
rs1253892559
CA345681747
162 A>V No ClinGen
gnomAD
rs758959992
CA1489265
163 S>C No ClinGen
ExAC
gnomAD
CA41244010
rs11544847
165 L>P No ClinGen
TOPMed
gnomAD
rs774448401
CA1489264
167 P>R No ClinGen
ExAC
gnomAD
rs770927460
CA1489263
168 A>V No ClinGen
ExAC
gnomAD
rs1266870508
CA345681686
172 F>S No ClinGen
gnomAD
CA1489262
rs762875181
175 F>S No ClinGen
ExAC
gnomAD
rs1412222041
CA345681658
176 A>E No ClinGen
TOPMed
rs1572718060
CA345681552
181 N>H No ClinGen
Ensembl
rs765025635
CA1489221
183 F>L No ClinGen
ExAC
rs1396227595
CA345681537
183 F>L No ClinGen
gnomAD
CA345681531
rs1326248982
184 T>A No ClinGen
TOPMed
gnomAD
CA1489220
rs761671865
185 I>N No ClinGen
ExAC
TOPMed
gnomAD
rs761671865
CA345681523
185 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1160764175
CA345681519
186 C>R No ClinGen
gnomAD
rs767802052
CA1489218
186 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA1489217
rs181459217
188 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs368907626
CA1489215
189 E>K No ClinGen
ESP
ExAC
rs1572717966
CA345681489
190 M>T No ClinGen
Ensembl
rs1054051754
CA345681480
191 Q>P No ClinGen
TOPMed
gnomAD
rs1054051754
CA41212872
191 Q>R No ClinGen
TOPMed
gnomAD
rs1253868183
CA345681465
193 V>A No ClinGen
gnomAD
CA345681460
rs1286479947
194 G>A No ClinGen
gnomAD
CA345681461
rs1286479947
194 G>D No ClinGen
gnomAD
rs773777069
CA1489213
194 G>S No ClinGen
ExAC
gnomAD
rs1225356720
CA345681458
195 V>I No ClinGen
gnomAD
CA41212871
rs750470206
196 G>V No ClinGen
Ensembl
CA345681446
rs1405652169
197 L>V No ClinGen
TOPMed
CA41212870
rs936074901
199 P>A No ClinGen
TOPMed
gnomAD
CA345681433
rs936074901
199 P>S No ClinGen
TOPMed
gnomAD
rs1430823709
CA345681406
201 I>F No ClinGen
gnomAD
rs1437168377
CA345681397
202 S>F No ClinGen
gnomAD
rs769898823
CA1489187
202 S>T No ClinGen
ExAC
gnomAD
CA345681390
rs1376405322
203 L>F No ClinGen
gnomAD
CA1489186
rs748643391
204 L>P No ClinGen
ExAC
gnomAD
CA1489185
rs777190405
205 N>S No ClinGen
ExAC
gnomAD
rs769203532
CA1489184
209 D>N No ClinGen
ExAC
gnomAD
rs1472496555
CA345681341
210 P>L No ClinGen
gnomAD
rs1187387007
CA345681346
210 P>T No ClinGen
gnomAD
rs1572712701
CA345681339
211 N>D No ClinGen
Ensembl
CA1489183
rs369541466
211 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1486622535
CA345681333
212 C>S No ClinGen
gnomAD
rs758081490
CA1489181
213 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1305622870
CA345681310
215 V>E No ClinGen
gnomAD
CA345681296
rs1214851067
217 N>S No ClinGen
TOPMed
gnomAD
CA41212648
rs11544848
219 P>A No ClinGen
gnomAD
rs41308150
CA1489179
220 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA345681271
rs1308905446
221 L>F No ClinGen
TOPMed
CA345681254
rs777672375
224 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA1489175
rs755914433
224 R>Q No ClinGen
ExAC
gnomAD
CA1489173
rs566281194
227 R>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs566281194
CA1489172
227 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1489171
rs549272016
227 R>Q No ClinGen
1000Genomes
ExAC
rs147009044
CA1489168
230 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA345681210
rs1264372876
231 V>G No ClinGen
TOPMed
CA345681214
rs1476109987
231 V>M No ClinGen
gnomAD
CA41212646
rs371218690
232 G>A No ClinGen
Ensembl
rs1258137878
CA345681209
232 G>R No ClinGen
gnomAD
rs1429337492
CA345681199
233 E>G No ClinGen
TOPMed
CA1489166
rs769217941
234 E>* No ClinGen
ExAC
gnomAD
rs769217941
CA41212645
234 E>K No ClinGen
ExAC
gnomAD
CA1489143
rs143716511
237 I>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs143716511
CA1489144
237 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs748774049
CA1489142
238 C>R No ClinGen
ExAC
TOPMed
gnomAD
CA1489141
rs148947059
238 C>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs748154181
CA1489139
242 M>I No ClinGen
ExAC
CA1489140
rs769267565
242 M>T No ClinGen
ExAC
gnomAD
rs1572676572
CA345681102
246 S>N No ClinGen
Ensembl
rs1367184255
CA345681079
249 R>C No ClinGen
TOPMed
rs781096043
CA1489138
249 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA345681078
rs781096043
249 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA41211137
rs987211168
250 R>Q No ClinGen
TOPMed
gnomAD
rs145023938
CA1489137
250 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1489136
rs746753364
252 Q>* No ClinGen
ExAC
CA345681053
rs1444350287
254 R>G No ClinGen
gnomAD
rs757450128
CA1489134
255 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA1489133
rs754089601
257 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA1489132
rs764309201
258 C>G No ClinGen
ExAC
TOPMed
gnomAD
rs756254559
CA1489131
258 C>Y No ClinGen
ExAC
gnomAD
CA41211136
rs966881550
259 F>L No ClinGen
Ensembl
rs952048801
CA41211134
264 F>C No ClinGen
TOPMed
CA1489129
rs768007152
264 F>L No ClinGen
ExAC
gnomAD
rs150058397
CA1489128
265 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs61762672
CA1489127
265 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs762638036
CA1489125
267 Q>K No ClinGen
ExAC
gnomAD
CA345680946
rs1362806611
269 Q>E No ClinGen
gnomAD
rs769353259
CA1489123
270 D>E No ClinGen
ExAC
gnomAD
CA1489124
rs533568761
270 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1373338617
CA345680932
271 K>E No ClinGen
TOPMed
gnomAD
rs1373338617
CA345680933
271 K>Q No ClinGen
TOPMed
gnomAD
CA345680899
rs1248897622
272 D>G No ClinGen
gnomAD
rs528447805
CA1489104
273 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA345680872
rs1420220889
274 D>V No ClinGen
gnomAD
CA345680857
rs1481089698
275 M>K No ClinGen
gnomAD
rs776156757
CA1489102
278 G>D No ClinGen
ExAC
gnomAD
rs768027957
CA1489101
280 E>K No ClinGen
ExAC
gnomAD
CA345680791
rs1198985796
281 Q>K No ClinGen
Ensembl
CA345680785
rs1572540278
281 Q>R No ClinGen
Ensembl
CA1489100
rs143466763
282 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1295032064
CA345680762
283 W>R No ClinGen
gnomAD
CA1489099
rs565702852
285 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1326631387
CA345680690
288 E>K No ClinGen
gnomAD
CA1489097
rs745597165
293 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA345680610
rs1459405982
294 E>G No ClinGen
gnomAD
rs778143087
CA1489096
295 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA1489095
rs770099302
296 L>R No ClinGen
ExAC
gnomAD
CA1489094
rs373496834
297 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373496834
CA1489093
297 K>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1489092
rs755011903
298 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA1489069
rs746995439
304 Q>* No ClinGen
ExAC
gnomAD
rs1369622915
CA345680307
305 V>A No ClinGen
TOPMed
rs1047652872
CA345680309
305 V>F No ClinGen
TOPMed
rs1047652872
CA41204538
305 V>I No ClinGen
TOPMed
CA1489067
rs758855044
308 M>T No ClinGen
ExAC
gnomAD
rs930261608
CA41204537
308 M>V No ClinGen
TOPMed
gnomAD
rs201082329
CA41204536
311 A>T No ClinGen
1000Genomes
CA345680267
rs1320812485
311 A>V No ClinGen
gnomAD
rs1375170733
CA345680262
312 I>T No ClinGen
gnomAD
rs1241937474
CA345680265
312 I>V No ClinGen
TOPMed
CA1489065
rs779288807
314 S>N No ClinGen
ExAC
gnomAD
rs779288807
CA345680249
314 S>T No ClinGen
ExAC
gnomAD
rs1436747255
CA345680234
316 N>S No ClinGen
gnomAD
CA41204535
rs974747669
317 S>A No ClinGen
Ensembl
rs763591857
CA1489062
319 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs150127545
CA1489061
319 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs763591857
CA1489063
319 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA1489058
rs759589293
322 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs770911040
CA1489056
323 I>T No ClinGen
ExAC
gnomAD
CA1489057
rs774428401
323 I>V No ClinGen
ExAC
gnomAD
CA345680181
rs1349858464
325 I>V No ClinGen
gnomAD
CA345680171
rs1300439665
326 Y>C No ClinGen
gnomAD
rs762602003
CA1489055
327 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA1489052
rs747136156
331 L>P No ClinGen
ExAC
gnomAD
CA345680136
rs1166928311
332 D>N No ClinGen
TOPMed
CA345680120
rs150759474
333 C>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1489049
rs746439301
334 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs757653353
CA1489047
335 M>I No ClinGen
ExAC
gnomAD
CA345680113
rs1418703402
335 M>L No ClinGen
TOPMed
gnomAD
CA1489048
rs779378760
335 M>T No ClinGen
ExAC
gnomAD
CA345680111
rs1418703402
335 M>V No ClinGen
TOPMed
gnomAD
rs749545404
CA1489046
337 A>T No ClinGen
ExAC
gnomAD
rs1193151779
CA345680095
337 A>V No ClinGen
gnomAD
rs777509852
CA1489045
338 C>Y No ClinGen
ExAC
gnomAD
rs145115256
CA1489043
342 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1417058216
CA345680057
343 L>R No ClinGen
gnomAD
CA345680052
rs1336136860
344 L>* No ClinGen
TOPMed
rs767206544
CA1489042
346 E>* No ClinGen
ExAC
gnomAD
CA1489040
rs751559171
347 A>G No ClinGen
ExAC
gnomAD
CA1489041
rs754524993
347 A>T No ClinGen
ExAC
gnomAD
CA345680009
rs1203321904
350 Y>C No ClinGen
gnomAD
CA345680005
rs1435733310
351 G>S No ClinGen
gnomAD
CA345679990
rs1218705109
353 R>Q No ClinGen
TOPMed
gnomAD
rs150710804
CA1489039
353 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs772834603
CA1489037
354 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA345679989
rs1205641676
354 T>P No ClinGen
TOPMed
CA345679987
rs1205641676
354 T>S No ClinGen
TOPMed
rs765060951
CA1489036
355 M>T No ClinGen
ExAC
CA345679983
rs1235722186
355 M>V No ClinGen
gnomAD
rs760848607
CA1489035
356 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1279348499
CA345679966
357 P>L No ClinGen
TOPMed
gnomAD
rs1260623990
CA345679885
363 P>R No ClinGen
gnomAD
rs1488553220
CA345679886
363 P>S No ClinGen
gnomAD
CA345679882
rs1278236222
364 G>R No ClinGen
TOPMed
CA41192679
rs201329671
365 S>R No ClinGen
1000Genomes
TOPMed
rs770069752
CA1489008
366 H>R No ClinGen
ExAC
gnomAD
rs138010213
CA345679855
368 V>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs138010213
CA1489006
368 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1345998603
CA345679848
369 R>T No ClinGen
gnomAD
rs1361425040
CA345679837
371 V>I No ClinGen
gnomAD
CA41192678
rs529041742
372 Q>R No ClinGen
Ensembl
CA1489005
rs768378444
374 M>L No ClinGen
ExAC
gnomAD
rs1170061606
CA345679811
375 K>Q No ClinGen
TOPMed
gnomAD
CA1489004
rs746640710
375 K>T No ClinGen
ExAC
gnomAD
CA1489003
rs151331887
376 V>A No ClinGen
1000Genomes
ExAC
gnomAD
CA41192677
rs151331887
376 V>G No ClinGen
1000Genomes
ExAC
gnomAD
CA1489002
rs376454354
377 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1489001
rs750382283
377 G>V No ClinGen
ExAC
gnomAD
CA1489000
rs778849787
379 L>M No ClinGen
ExAC
gnomAD
rs778849787
CA345679788
379 L>V No ClinGen
ExAC
gnomAD
rs757046573
CA1488999
382 H>Y No ClinGen
ExAC
gnomAD
CA345679763
rs1260469748
383 Q>E No ClinGen
gnomAD
rs866883139
CA41192675
384 G>D No ClinGen
TOPMed
gnomAD
CA41192676
rs866883139
384 G>V No ClinGen
TOPMed
gnomAD
rs753589371
CA1488998
385 M>V No ClinGen
ExAC
gnomAD
CA41192673
rs994995027
389 A>T No ClinGen
TOPMed
gnomAD
CA41192672
rs899321147
390 M>I No ClinGen
TOPMed
gnomAD
CA1488997
rs767747986
390 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1484929551
CA345679691
393 L>P No ClinGen
gnomAD
rs762975145
CA1488974
396 A>D No ClinGen
ExAC
gnomAD
rs1400443682
CA345505069
399 I>M No ClinGen
gnomAD
CA345505045
rs1572234208
401 R>K No ClinGen
Ensembl
CA1488973
rs114883730
403 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1488972
rs765390535
404 H>Y No ClinGen
ExAC
gnomAD
rs1212824247
CA345505013
405 G>S No ClinGen
TOPMed
rs1256585246
CA345504991
407 E>Q No ClinGen
TOPMed
CA1488971
rs199766172
408 H>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA345504941
rs556817210
411 I>N No ClinGen
1000Genomes
ExAC
gnomAD
CA1488969
rs556817210
411 I>T No ClinGen
1000Genomes
ExAC
gnomAD
rs543248634
CA1488968
413 D>H No ClinGen
1000Genomes
ExAC
gnomAD
CA40566965
rs998508340
415 I>V No ClinGen
TOPMed
CA345504876
rs1331325646
417 L>R No ClinGen
gnomAD
CA345504857
rs1572234065
419 E>G No ClinGen
Ensembl
rs902948129
CA40566951
420 E>D No ClinGen
TOPMed
rs767335863
CA1488966
422 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs374803671
CA1488964
423 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146375964
CA345504796
424 N>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs146375964
CA1488961
424 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs558276345
CA1488962
424 N>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA40566891
rs938623740
425 I>L No ClinGen
TOPMed

No associated diseases with Q9H7B4

3 regional properties for Q9H7B4

Type Name Position InterPro Accession
domain SET domain 4 - 246 IPR001214
domain Zinc finger, MYND-type 49 - 87 IPR002893
domain SMYD3, SET domain 5 - 268 IPR044420

Functions

Description
EC Number 2.1.1.354 Methyltransferases
Subcellular Localization
  • Cytoplasm
  • Nucleus
  • Mainly cytoplasmic when cells are arrested at G0/G1
  • Accumulates in the nucleus at S phase and G2/M
PANTHER Family PTHR12197 HISTONE-LYSINE N-METHYLTRANSFERASE SMYD
PANTHER Subfamily PTHR12197:SF288 HISTONE-LYSINE N-METHYLTRANSFERASE SMYD3
PANTHER Protein Class chromatin/chromatin-binding, or -regulatory protein
histone modifying enzyme
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

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

5 GO annotations of molecular function

Name Definition
histone-lysine N-methyltransferase activity Catalysis of the reaction: S-adenosyl-L-methionine + histone L-lysine = S-adenosyl-L-homocysteine + histone N6-methyl-L-lysine. The methylation of peptidyl-lysine in histones forms N6-methyl-L-lysine, N6,N6-dimethyl-L-lysine and N6,N6,N6-trimethyl-L-lysine derivatives.
metal ion binding Binding to a metal ion.
RNA polymerase II cis-regulatory region sequence-specific DNA binding Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
RNA polymerase II complex binding Binding to an RNA polymerase II core enzyme, a multisubunit eukaryotic nuclear RNA polymerase typically composed of twelve subunits.
RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding Binding to an RNA polymerase II intronic DNA sequence that regulates the transcription of the transcript it is contained within.

8 GO annotations of biological process

Name Definition
cellular response to dexamethasone stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a dexamethasone stimulus.
establishment of protein localization The directed movement of a protein to a specific location.
histone lysine methylation The modification of a histone by addition of one or more methyl groups to a lysine residue.
myotube cell development The process aimed at the progression of a myotube cell over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. Myotubes are multinucleated cells that are formed when proliferating myoblasts exit the cell cycle, differentiate and fuse.
negative regulation of protein kinase activity Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase activity.
nucleosome assembly The aggregation, arrangement and bonding together of a nucleosome, the beadlike structural units of eukaryotic chromatin composed of histones and DNA.
positive regulation of peptidyl-serine phosphorylation Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-serine.
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.

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
Q6GMV2 SMYD5 Histone-lysine N-trimethyltransferase SMYD5 Homo sapiens (Human) PR
Q9NRG4 SMYD2 N-lysine methyltransferase SMYD2 Homo sapiens (Human) SS
Q3TYX3 Smyd5 Histone-lysine N-trimethyltransferase SMYD5 Mus musculus (Mouse) PR
Q8R5A0 Smyd2 N-lysine methyltransferase SMYD2 Mus musculus (Mouse) EV
Q9CWR2 Smyd3 Histone-lysine N-methyltransferase SMYD3 Mus musculus (Mouse) SS
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
MEPLKVEKFA TAKRGNGLRA VTPLRPGELL FRSDPLAYTV CKGSRGVVCD RCLLGKEKLM
70 80 90 100 110 120
RCSQCRVAKY CSAKCQKKAW PDHKRECKCL KSCKPRYPPD SVRLLGRVVF KLMDGAPSES
130 140 150 160 170 180
EKLYSFYDLE SNINKLTEDK KEGLRQLVMT FQHFMREEIQ DASQLPPAFD LFEAFAKVIC
190 200 210 220 230 240
NSFTICNAEM QEVGVGLYPS ISLLNHSCDP NCSIVFNGPH LLLRAVRDIE VGEELTICYL
250 260 270 280 290 300
DMLMTSEERR KQLRDQYCFE CDCFRCQTQD KDADMLTGDE QVWKEVQESL KKIEELKAHW
310 320 330 340 350 360
KWEQVLAMCQ AIISSNSERL PDINIYQLKV LDCAMDACIN LGLLEEALFY GTRTMEPYRI
370 380 390 400 410 420
FFPGSHPVRG VQVMKVGKLQ LHQGMFPQAM KNLRLAFDIM RVTHGREHSL IEDLILLLEE
CDANIRAS