Q9H7B4
Gene name |
SMYD3 (ZMYND1, ZNFN3A1) |
Protein name |
Histone-lysine N-methyltransferase SMYD3 |
Names |
SET and MYND domain-containing protein 3, Zinc finger MYND domain-containing protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64754 |
EC number |
2.1.1.354: Methyltransferases |
Protein Class |
HISTONE-LYSINE N-METHYLTRANSFERASE SMYD (PTHR12197) |

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
Functions
Description | ||
---|---|---|
EC Number | 2.1.1.354 | Methyltransferases |
Subcellular Localization |
|
|
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 |