Q99687
SS
Gene name |
MEIS3 (MRG2) |
Protein name |
Homeobox protein Meis3 |
Names |
Meis1-related protein 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:56917 |
EC number |
|
Protein Class |
|
Descriptions
MEIS2 is a homeodomain protein containing a conserved homothorax (Hth) domain that is present in all Meis and Prep family proteins and in the Drosophila Hth protein. The region (150?193 residues) of MEIS2 is autoinhibitory region which encompasses homology region 2 (hr2) of the Hth domain. The Hth domain interacts with Pbx proteins, thereby promoting cooperative binding of Meis?Pbx dimers to a composite DNA element, and this interaction facilitates binding of the Pbx partner to DNA.
Autoinhibitory domains (AIDs)
Target domain |
340-470 (C-terminal transcriptional activation domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q99687
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q99687-F1 | Predicted | AlphaFoldDB |
354 variants for Q99687
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1371035089 CA406613035 |
2 | A>V | No |
ClinGen TOPMed |
|
|
CA406613022 rs1419058165 |
3 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA406613007 rs1333482864 |
4 | R>S | No |
ClinGen TOPMed |
|
|
rs1232029618 CA406609827 |
5 | Y>C | No |
ClinGen gnomAD |
|
|
rs1599828058 CA406609778 |
7 | E>A | No |
ClinGen Ensembl |
|
|
CA9539523 rs200901098 |
9 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759458899 CA9539521 |
10 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA9539520 rs774035879 |
10 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9539519 rs770718549 |
11 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1387762426 CA406609629 |
16 | D>V | No |
ClinGen TOPMed |
|
|
rs61733746 CA9539517 |
17 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9539516 rs769551922 |
18 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA406609593 rs149363452 |
19 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406609591 rs149363452 |
19 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9539514 rs149363452 |
19 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9539512 rs747513727 |
21 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs780398345 CA9539511 |
22 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9539508 rs779174230 |
24 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1441755849 CA406609471 |
26 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA406609475 rs1208567790 |
26 | E>G | No |
ClinGen gnomAD |
|
|
rs757405872 CA9539507 |
28 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1220709271 CA406609435 |
29 | P>S | No |
ClinGen gnomAD |
|
|
CA406609440 rs1220709271 |
29 | P>T | No |
ClinGen gnomAD |
|
|
CA309207415 rs771923390 |
30 | A>T | No |
ClinGen TOPMed |
|
|
rs764183306 CA9539505 |
30 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759420761 CA9539504 |
33 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs906170659 CA309207408 |
33 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA406609385 rs906170659 |
33 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs906170659 CA309207407 |
33 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs376008844 CA9539503 |
34 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1310561737 CA406609371 |
34 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA406609372 rs1310561737 |
34 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1416469839 CA406609346 |
35 | Y>* | No |
ClinGen gnomAD |
|
|
CA9539501 rs762895539 |
35 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA9539500 rs773132046 |
36 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA406609316 rs1478277856 |
37 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1599827576 CA406609304 |
38 | H>P | No |
ClinGen Ensembl |
|
|
CA309207359 rs1048655583 |
38 | H>Y | No |
ClinGen Ensembl |
|
|
CA406609291 rs375326811 |
39 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1568429890 CA406609287 |
39 | R>Q | No |
ClinGen Ensembl |
|
|
rs375326811 CA309207354 |
39 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA406609266 rs1237963820 |
40 | P>L | No |
ClinGen gnomAD |
|
|
rs1568429878 CA406609273 |
40 | P>S | No |
ClinGen Ensembl |
|
|
CA406609253 rs1212183464 |
41 | P>L | No |
ClinGen gnomAD |
|
|
rs1408143825 CA406609235 |
42 | Q>H | No |
ClinGen TOPMed |
|
|
rs1315040457 CA406609211 |
44 | L>P | No |
ClinGen TOPMed |
|
|
CA406609194 rs1257197294 |
45 | P>L | No |
ClinGen gnomAD |
|
|
rs768256511 CA9539495 |
48 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs931160554 CA309207335 |
49 | D>N | No |
ClinGen Ensembl |
|
|
rs746482576 CA9539494 |
50 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406609119 rs896984246 |
50 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9539492 rs772452906 |
51 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406609115 rs1285257444 |
51 | D>N | No |
ClinGen gnomAD |
|
|
CA9539493 rs772452906 |
51 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140932924 CA9539491 RCV000881667 |
52 | G>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA406609075 rs1466530548 |
53 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA406609015 rs1474149130 |
55 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9539488 rs757491586 |
56 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA406608922 rs1568429702 |
59 | E>A | No |
ClinGen Ensembl |
|
|
rs1183459691 CA406608851 |
61 | Y>* | No |
ClinGen gnomAD |
|
|
rs1256741776 CA406608873 |
61 | Y>H | No |
ClinGen gnomAD |
|
|
CA9539485 rs145814660 |
62 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145814660 CA406608827 |
62 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406608838 rs1468550039 |
62 | G>R | No |
ClinGen gnomAD |
|
|
CA309207270 rs145814660 |
62 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1599826602 CA406608717 |
63 | H>P | No |
ClinGen Ensembl |
|
|
CA9539465 rs199683999 |
64 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199683999 CA9539466 |
64 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs995674433 CA309207018 |
65 | L>P | No |
ClinGen Ensembl |
|
|
CA406608640 rs1212996304 |
66 | F>Y | No |
ClinGen gnomAD |
|
|
rs1193411468 CA406608614 |
67 | P>L | No |
ClinGen TOPMed |
|
|
rs1599826535 CA406608623 |
67 | P>S | No |
ClinGen Ensembl |
|
|
CA406608599 rs140643747 |
68 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000201319 rs140643747 CA053537 |
68 | L>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9539461 rs140643747 |
68 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9539459 rs757180156 |
70 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1344388045 CA406608497 |
72 | V>A | No |
ClinGen TOPMed |
|
|
rs753571268 CA9539458 |
74 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309206910 rs899278171 |
76 | C>R | No |
ClinGen TOPMed |
|
|
rs1295550657 CA406608416 |
76 | C>Y | No |
ClinGen gnomAD |
|
|
CA406608373 rs1398170181 |
78 | L>P | No |
ClinGen gnomAD |
|
|
CA406608324 rs1298659840 |
80 | T>I | No |
ClinGen gnomAD |
|
|
CA9539456 rs760189238 |
81 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA9539454 rs766973006 |
83 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA9539452 rs372340229 |
84 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150969429 CA9539451 |
84 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406608236 rs150969429 |
84 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368317403 CA406608202 |
85 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9539448 rs770066174 |
86 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA9539449 rs773378344 |
86 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406608165 rs773378344 |
86 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748267087 CA9539446 |
87 | A>D | No |
ClinGen ExAC |
|
|
rs376771899 CA9539444 |
88 | G>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376771899 CA9539443 |
88 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406608028 rs1217033905 |
90 | G>A | No |
ClinGen gnomAD |
|
|
CA9539442 rs779064870 |
90 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs757194253 CA9539441 |
93 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs566084455 CA9539439 |
94 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs566084455 CA406607910 |
94 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753681519 CA9539440 |
94 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1302242061 CA406607889 |
95 | P>S | No |
ClinGen gnomAD |
|
|
CA406607851 rs1360714354 |
96 | G>R | No |
ClinGen gnomAD |
|
|
CA9539437 rs142557324 |
97 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9539436 rs767132793 |
98 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs925719065 CA309206735 |
99 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
rs751064675 CA9539434 |
99 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763306913 CA9539432 |
106 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147730599 CA9539430 |
107 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9539428 rs762219288 |
109 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9539426 rs371689659 |
110 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1568428958 CA406607379 |
113 | A>T | No |
ClinGen Ensembl |
|
|
rs145447715 CA309206627 |
115 | Q>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA406607349 rs145447715 |
115 | Q>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9539395 rs779646781 COSM3389174 |
117 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9539396 rs779646781 |
117 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201276434 CA9539394 |
117 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9539393 rs201276434 |
117 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1283741710 CA406607307 |
119 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA406607311 rs1358627124 |
119 | E>K | No |
ClinGen gnomAD |
|
|
rs757724729 CA9539391 |
122 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1311161357 CA406607287 |
122 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA9539389 rs764515630 |
124 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs528596986 CA9539390 |
124 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9539387 rs775902267 |
125 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs761092442 CA9539388 |
125 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA406607260 rs1296817253 |
127 | P>A | No |
ClinGen gnomAD |
|
|
CA406607258 rs1419640345 |
127 | P>L | No |
ClinGen gnomAD |
|
|
rs1296817253 CA406607261 |
127 | P>T | No |
ClinGen gnomAD |
|
|
rs374187995 CA309206309 |
128 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9539385 rs374187995 |
128 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1322997331 CA406607244 |
130 | D>N | No |
ClinGen TOPMed |
|
|
rs1160653181 CA406607235 |
131 | N>D | No |
ClinGen gnomAD |
|
|
rs1366439528 CA406607232 |
131 | N>S | No |
ClinGen TOPMed |
|
|
CA406606238 rs1170255599 |
133 | M>V | No |
ClinGen gnomAD |
|
|
CA406606210 rs1466147870 |
134 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1421781881 CA406606198 |
135 | Q>* | No |
ClinGen gnomAD |
|
|
rs776597328 CA9539363 |
136 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA406606187 rs1179997839 |
136 | A>T | No |
ClinGen gnomAD |
|
|
rs1238021390 CA406606171 |
137 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1185193205 CA406606155 |
138 | Q>R | No |
ClinGen gnomAD |
|
|
CA309204719 rs984438052 |
139 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs147207869 CA406606119 |
141 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147207869 CA9539359 |
141 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9539360 rs775298294 |
141 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867237976 CA309204685 |
142 | F>L | No |
ClinGen Ensembl |
|
|
CA9539358 rs745496665 |
145 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1382050739 CA406606080 |
146 | E>G | No |
ClinGen TOPMed |
|
|
CA406606088 rs1316358042 |
146 | E>K | No |
ClinGen TOPMed |
|
|
rs1454865042 CA406606072 |
147 | L>V | No |
ClinGen gnomAD |
|
|
CA309204669 rs868429781 |
148 | E>D | No |
ClinGen gnomAD |
|
|
rs983476995 CA309204647 |
149 | K>N | No |
ClinGen gnomAD |
|
|
CA9539357 rs778401871 |
149 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371334677 CA309204027 |
150 | V>I | No |
ClinGen Ensembl |
|
|
rs1209991584 CA406604788 |
152 | D>N | No |
ClinGen TOPMed |
|
|
CA406604771 rs1273797141 |
153 | L>M | No |
ClinGen gnomAD |
|
|
rs1328819625 CA406604731 |
155 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs145236300 CA9539289 |
155 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145236300 CA9539290 |
155 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA309203988 rs941617641 |
156 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9539288 rs746220665 |
157 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA406604705 rs1396826011 |
157 | F>L | No |
ClinGen gnomAD |
|
|
CA406604703 rs1396826011 |
157 | F>V | No |
ClinGen gnomAD |
|
|
rs139146218 CA9539287 |
160 | R>C | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA9539286 rs370819846 |
160 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9539285 rs370394843 |
161 | Y>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA406604632 rs1568426925 |
162 | I>V | No |
ClinGen Ensembl |
|
|
CA9539284 rs777662647 |
163 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs751587793 CA9539282 |
168 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1388883476 CA406604533 |
169 | M>R | No |
ClinGen TOPMed |
|
|
CA309203897 rs904163790 |
171 | I>V | No |
ClinGen TOPMed |
|
|
CA309203884 rs865804155 |
172 | D>N | No |
ClinGen gnomAD |
|
|
CA406604450 rs1321780102 |
176 | E>G | No |
ClinGen Ensembl |
|
|
rs534956649 COSM162451 CA9539280 |
176 | E>K | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA406604424 rs750236177 |
178 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761325193 CA9539278 |
178 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9539277 rs761325193 |
178 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9539279 rs750236177 |
178 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141460006 CA9539275 |
179 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141460006 CA9539276 |
179 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9539273 rs572224868 |
180 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9539272 rs148306407 |
181 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148306407 CA9539271 |
181 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1389432604 CA406604383 |
181 | G>V | No |
ClinGen gnomAD |
|
|
rs1368051918 CA406604339 |
184 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs145484492 CA9539269 |
187 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA406604290 rs1259108808 |
188 | D>E | No |
ClinGen TOPMed |
|
|
rs1599819794 CA406604275 |
191 | A>T | No |
ClinGen Ensembl |
|
|
rs1177253681 CA406604262 |
193 | C>R | No |
ClinGen TOPMed |
|
|
rs1431468555 CA406604246 |
195 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1599819722 CA406604242 |
195 | S>R | No |
ClinGen Ensembl |
|
|
CA406604249 rs1599819754 |
195 | S>R | No |
ClinGen Ensembl |
|
|
rs1431468555 CA406604245 |
195 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA406604230 rs1268295472 |
197 | P>L | No |
ClinGen gnomAD |
|
|
rs1480421254 CA406604233 |
197 | P>S | No |
ClinGen gnomAD |
|
|
CA406604229 rs769813189 |
198 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA9539266 rs769813189 |
198 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1366843965 CA406604221 |
199 | Q>E | No |
ClinGen TOPMed |
|
|
CA406604216 rs1599819655 |
199 | Q>H | No |
ClinGen Ensembl |
|
|
CA406603170 rs1384596306 |
200 | N>H | No |
ClinGen TOPMed |
|
|
rs745842107 CA9539242 |
202 | M>I | No |
ClinGen ExAC TOPMed |
|
|
CA309199512 rs200045130 |
202 | M>T | No |
ClinGen 1000Genomes gnomAD |
|
|
CA406603128 rs1475684874 |
202 | M>V | No |
ClinGen gnomAD |
|
|
CA406603086 rs1568422672 |
203 | W>L | No |
ClinGen Ensembl |
|
|
CA9539241 rs778888760 COSM998724 |
205 | R>* | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs375779090 CA9539240 |
205 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9539239 rs753667318 |
208 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1315471503 CA406602931 |
211 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1315471503 CA406602926 |
211 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs558778628 CA9539236 |
212 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1324637379 CA406602876 |
214 | H>P | No |
ClinGen gnomAD |
|
|
rs759012128 CA9539234 |
215 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs766894750 CA9539232 |
216 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA9539233 rs752051957 |
216 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9539231 rs763293610 |
218 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA406602826 rs1320760297 |
218 | P>S | No |
ClinGen TOPMed |
|
|
rs773556659 CA406602813 |
219 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398430707 CA406602816 |
219 | G>R | No |
ClinGen gnomAD |
|
|
CA9539230 rs773556659 |
219 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410663250 CA406602789 |
221 | S>C | No |
ClinGen gnomAD |
|
|
rs1421500611 CA406602778 |
222 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1421500611 CA406602780 |
222 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1421500611 CA406602779 |
222 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs146067115 CA9539229 |
224 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309199435 rs998741471 |
225 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs267605555 CA9539226 COSM140845 |
227 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA9539225 rs747099469 |
228 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs142732459 CA309199422 |
228 | Q>R | No |
ClinGen ESP TOPMed |
|
|
rs1232016620 CA406602711 |
229 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA406602709 rs1232016620 |
229 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9539224 rs138485773 |
230 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs191061024 CA9539204 |
238 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9539201 rs372548178 |
239 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748298649 CA9539202 |
239 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406602516 rs1313393195 |
241 | D>V | No |
ClinGen TOPMed |
|
|
rs1404482478 CA406602508 |
242 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9539200 rs145852963 |
242 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367920242 CA9539199 |
244 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9539198 rs202205840 |
245 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9539196 rs779567147 |
246 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs757817903 CA9539195 |
247 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA406602462 rs1243974950 |
248 | S>N | No |
ClinGen TOPMed |
|
|
CA9539194 rs750990615 |
249 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406602432 rs1198054951 |
253 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1198054951 CA406602430 |
253 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA309199236 rs956834594 |
254 | E>V | No |
ClinGen TOPMed |
|
|
CA9539193 rs765827343 |
255 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA406602408 rs1485070326 |
256 | L>S | No |
ClinGen gnomAD |
|
|
CA9539192 rs757764462 |
256 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1171028277 CA406602404 |
257 | D>N | No |
ClinGen TOPMed |
|
|
CA406602378 rs1037684054 |
260 | R>* | No |
ClinGen TOPMed |
|
|
rs374178373 CA9539191 COSM137697 |
260 | R>P | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA9539190 rs374178373 |
260 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406602365 rs200469376 |
261 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA309199217 rs200469376 |
261 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
COSM300973 CA9539188 rs752747235 |
261 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs754981542 COSM1637771 CA9539187 |
262 | R>* | NS [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs563242031 CA9539186 COSM258891 |
262 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA9539184 rs377027493 |
264 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1403376910 CA406602293 |
267 | G>E | No |
ClinGen gnomAD |
|
|
rs1432711582 CA406602297 |
267 | G>R | No |
ClinGen gnomAD |
|
|
CA309199187 rs888695548 |
270 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs776352220 CA9539182 |
271 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs746716534 CA9539181 |
272 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA9539180 rs746716534 |
272 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs771672817 CA9539178 |
276 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs745368670 CA9539177 |
277 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA9539176 rs779570800 |
277 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA9539175 rs778163193 |
278 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA9539173 rs778163193 |
278 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA9539172 rs753008990 |
278 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9539171 rs753008990 |
278 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs963687458 CA309199016 |
279 | A>T | No |
ClinGen TOPMed |
|
|
rs765170583 CA9539167 |
280 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9539168 rs751570283 |
280 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs751570283 CA406602136 |
280 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA406602071 rs761689859 |
283 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199742918 CA9539165 |
286 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406602011 rs199742918 |
286 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762463458 CA9539102 |
289 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1200616551 CA406599001 |
290 | P>A | No |
ClinGen gnomAD |
|
|
CA9539101 rs749978826 |
291 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA9539099 rs761363409 |
292 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs769085608 CA9539097 |
294 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA309197450 rs1023877933 |
297 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA406598919 rs1023877933 |
297 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9539096 rs761043957 |
298 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs775784538 CA9539095 |
298 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs746119298 CA9539093 |
299 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9539092 rs779178021 |
300 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs140216998 CA9539091 |
301 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751421728 CA9539087 |
303 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs754902674 CA9539088 |
303 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309197400 rs887470403 |
305 | T>S | No |
ClinGen Ensembl |
|
|
rs779953710 CA9539086 |
306 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1385396308 CA406598794 |
307 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1385396308 CA406598796 |
307 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA406598779 rs1468110857 |
308 | Q>R | No |
ClinGen gnomAD |
|
|
rs761235146 CA406598742 |
310 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs761235146 CA9539082 |
310 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs764939746 CA9539083 |
310 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs993624796 CA309197374 |
311 | N>S | No |
ClinGen Ensembl |
|
|
CA9539081 rs753289486 |
312 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA9539051 rs201978447 |
316 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406598529 rs1246912582 |
317 | R>W | No |
ClinGen TOPMed |
|
|
rs533360060 CA406598465 |
321 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs533360060 CA9539049 |
321 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA309197099 rs151160339 |
323 | P>L | No |
ClinGen ESP gnomAD |
|
|
CA309197088 rs946585508 |
324 | M>T | No |
ClinGen Ensembl |
|
|
rs748224833 CA9539048 |
324 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA406598384 rs1425166666 |
325 | I>S | No |
ClinGen gnomAD |
|
|
COSM1394895 CA406598371 rs1312686736 |
326 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA406598339 rs1303332492 |
327 | Q>R | No |
ClinGen gnomAD |
|
|
CA309197085 rs111317308 |
330 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9539047 rs111317308 |
330 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1599799531 CA406598081 |
333 | Q>K | No |
ClinGen Ensembl |
|
|
rs201788472 CA9539028 |
334 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA309196956 rs1010740542 |
337 | F>L | No |
ClinGen Ensembl |
|
|
rs570873571 CA9539027 |
337 | F>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9539026 rs770774384 |
341 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1412017774 CA406597892 |
341 | G>S | No |
ClinGen gnomAD |
|
|
CA406597885 rs770774384 |
341 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA9539025 rs141913873 |
344 | I>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs769374162 CA9539022 |
345 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406597839 rs1568419570 |
345 | G>R | No |
ClinGen Ensembl |
|
|
rs769374162 CA406597833 |
345 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406597827 rs1156943978 |
346 | G>C | No |
ClinGen gnomAD |
|
|
CA406597822 rs1472310470 |
346 | G>V | No |
ClinGen gnomAD |
|
|
rs1252401527 CA406597811 |
347 | Y>C | No |
ClinGen gnomAD |
|
|
rs62625017 CA309196895 |
349 | E>D | No |
ClinGen Ensembl |
|
|
rs1489852412 CA406597791 |
349 | E>Q | No |
ClinGen gnomAD |
|
|
rs780709640 CA9539020 |
349 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA406597771 rs1210276094 |
350 | T>M | No |
ClinGen gnomAD |
|
|
CA406597765 rs1258595696 |
351 | Q>* | No |
ClinGen gnomAD |
|
|
rs903322638 CA309196887 |
351 | Q>R | No |
ClinGen TOPMed |
|
|
rs752156570 CA406597730 |
353 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329274302 CA406597726 |
354 | V>M | No |
ClinGen gnomAD |
|
|
CA406597700 rs148464543 |
356 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9539015 rs148464543 |
356 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9539016 rs148464543 |
356 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1323296574 CA406597689 |
357 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA406597691 rs1323296574 |
357 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1344246147 CA406597695 |
357 | R>W | No |
ClinGen gnomAD |
|
|
CA406597671 rs1387725242 COSM1214905 |
359 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1379473071 CA406597653 |
360 | G>E | No |
ClinGen gnomAD |
|
|
CA406597668 rs1287371109 |
360 | G>R | No |
ClinGen gnomAD |
|
|
CA406597631 rs1048489196 |
364 | M>L | No |
ClinGen TOPMed |
|
|
CA309196575 rs1048489196 |
364 | M>V | No |
ClinGen TOPMed |
|
|
CA9538994 rs757676539 |
365 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA9538993 rs754149809 |
367 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1366126235 CA406597578 |
370 | G>E | No |
ClinGen gnomAD |
|
|
CA9538992 rs374572946 |
370 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs192952321 CA9538991 |
373 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs370671743 CA9538990 |
374 | Y>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1416069067 CA406597488 |
376 | L>W | No |
ClinGen gnomAD |
No associated diseases with Q99687
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| 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. |
| DNA-binding transcription activator activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| 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. |
| sequence-specific DNA binding | Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding. |
| sequence-specific double-stranded DNA binding | Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| animal organ morphogenesis | Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. |
| brain development | The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
| embryonic pattern specification | The process that results in the patterns of cell differentiation that will arise in an embryo. |
| eye development | The process whose specific outcome is the progression of the eye over time, from its formation to the mature structure. The eye is the organ of sight. |
| negative regulation of apoptotic signaling pathway | Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic signaling pathway. |
| positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
| positive regulation of protein kinase B signaling | Any process that activates or increases the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B. |
| 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. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P40424 | PBX1 | Pre-B-cell leukemia transcription factor 1 | Homo sapiens (Human) | PR |
| P40425 | PBX2 | Pre-B-cell leukemia transcription factor 2 | Homo sapiens (Human) | PR |
| Q8IUE1 | TGIF2LX | Homeobox protein TGIF2LX | Homo sapiens (Human) | PR |
| O14770 | MEIS2 | Homeobox protein Meis2 | Homo sapiens (Human) | EV |
| O00470 | MEIS1 | Homeobox protein Meis1 | Homo sapiens (Human) | SS |
| A8K0S8 | MEIS3P2 | Putative homeobox protein Meis3-like 2 | Homo sapiens (Human) | PR |
| A6NDR6 | MEIS3P1 | Putative homeobox protein Meis3-like 1 | Homo sapiens (Human) | PR |
| P97368 | Meis3 | Homeobox protein Meis3 | Mus musculus (Mouse) | PR |
| Q75LX9 | Os03g0673500 | Putative homeobox protein knotted-1-like 5 | Oryza sativa subsp japonica (Rice) | PR |
| Q75LX7 | OSH10 | Homeobox protein knotted-1-like 4 | Oryza sativa subsp japonica (Rice) | PR |
| Q1PFD1 | BLH11 | BEL1-like homeodomain protein 11 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SIW1 | BLH7 | BEL1-like homeodomain protein 7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MARRYDELPH | YPGIVDGPAA | LASFPETVPA | VPGPYGPHRP | PQPLPPGLDS | DGLKREKDEI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YGHPLFPLLA | LVFEKCELAT | CSPRDGAGAG | LGTPPGGDVC | SSDSFNEDIA | AFAKQVRSER |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PLFSSNPELD | NLMIQAIQVL | RFHLLELEKV | HDLCDNFCHR | YITCLKGKMP | IDLVIEDRDG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GCREDFEDYP | ASCPSLPDQN | NMWIRDHEDS | GSVHLGTPGP | SSGGLASQSG | DNSSDQGDGL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DTSVASPSSG | GEDEDLDQER | RRNKKRGIFP | KVATNIMRAW | LFQHLSHPYP | SEEQKKQLAQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DTGLTILQVN | NWFINARRRI | VQPMIDQSNR | TGQGAAFSPE | GQPIGGYTET | QPHVAVRPPG |
| 370 | |||||
| SVGMSLNLEG | EWHYL |