P41970
SS
Gene name |
ELK3 (NET, SAP2) |
Protein name |
ETS domain-containing protein Elk-3 |
Names |
ETS-related protein ERP, ETS-related protein NET, Serum response factor accessory protein 2, SAP-2, SRF accessory protein 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2004 |
EC number |
|
Protein Class |
|
Descriptions
ELK3 (NET) belongs to a subfamily of ETS domain transcription factors. Its characteristic property is the ability to form a ternary nucleoprotein complex with the serum response factor (SRF) over the serum response element (SRE) of the c-fos promoter. NET contains two inhibitory domains, the net inhibitory domain (NID) and the C-terminal binding protein (CtBP) inhibition domain (CID). The NID is an autonomous inhibitory domain that lies adjacent to the B box and inhibits both transactivation and specific DNA binding. The NID is predicted to adopt a helix-loop-helix (HLH) structure that inhibits DNA binding in cis. The CID is a CtBP binding motif, which interacts with the corepressor CtBP1 (E1A C-terminal binding protein). The CID inhibits transcription by recruiting CtBP, which acts as a corepressor through a mechanism that appears to involve recruitment of histone deacetylase (HDAC) and de-acetylation of chromatin.
Autoinhibitory domains (AIDs)
Target domain |
1-89 (Ets DNA-binding domain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for P41970
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P41970-F1 | Predicted | AlphaFoldDB |
318 variants for P41970
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1258585412 CA386088184 |
2 | E>Q | No |
ClinGen gnomAD |
|
|
rs771096270 CA6728830 |
4 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA241444314 rs373085274 |
5 | I>N | No |
ClinGen ESP |
|
|
rs370644588 CA6728832 |
5 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386088239 rs1295166133 |
6 | T>M | No |
ClinGen gnomAD |
|
|
CA386088257 rs1298881262 |
8 | W>R | No |
ClinGen TOPMed |
|
|
CA6728836 rs761763091 |
10 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA386088283 rs761763091 |
10 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1364859001 CA386088358 |
17 | D>N | No |
ClinGen gnomAD |
|
|
rs1162406674 CA386088374 |
18 | Q>E | No |
ClinGen TOPMed |
|
|
CA386088405 rs762463518 |
20 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6728839 rs762463518 |
20 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386088421 rs1365583985 |
21 | E>D | No |
ClinGen gnomAD |
|
|
rs146979376 CA6728841 |
22 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386088435 rs1304393699 |
23 | L>V | No |
ClinGen gnomAD |
|
|
rs753199489 CA6728844 |
26 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA6728845 rs756511475 |
28 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1245529683 CA386088528 |
30 | D>E | No |
ClinGen TOPMed |
|
|
rs376285118 CA386088519 |
30 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376285118 CA6728849 |
30 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386088573 rs1224172077 |
34 | K>R | No |
ClinGen TOPMed |
|
|
rs745990061 CA6728850 |
35 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1183260811 CA386088600 |
37 | K>E | No |
ClinGen gnomAD |
|
|
CA386088701 rs1442560886 |
46 | G>E | No |
ClinGen gnomAD |
|
|
rs1238236603 CA386088708 |
47 | L>F | No |
ClinGen TOPMed |
|
|
rs776745602 CA6728853 |
48 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA386088733 rs1388786729 |
48 | R>Q | No |
ClinGen TOPMed |
|
|
rs201254610 CA241444471 |
50 | N>S | No |
ClinGen 1000Genomes |
|
|
CA6728854 rs769732719 |
52 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6728886 rs780283462 |
70 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs920609616 CA241437038 |
77 | G>R | No |
ClinGen Ensembl |
|
|
CA241437052 rs571514720 |
78 | Q>E | No |
ClinGen Ensembl |
|
|
CA386096843 rs1338589938 |
81 | V>A | No |
ClinGen TOPMed |
|
|
CA386096857 rs1341725986 |
83 | K>R | No |
ClinGen gnomAD |
|
|
rs200029175 CA241437072 |
85 | V>G | No |
ClinGen 1000Genomes |
|
|
rs1347501519 CA386096870 |
85 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6728892 rs774087880 |
87 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs745554876 CA386096891 COSM3417299 |
88 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs745554876 CA6728893 |
88 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386096896 rs1262386529 |
89 | E>G | No |
ClinGen gnomAD |
|
|
CA6728895 rs374221949 |
90 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1442212922 CA386096918 |
92 | K>N | No |
ClinGen TOPMed |
|
|
CA6728897 rs763626966 |
95 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765550323 CA6728901 |
97 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6728899 rs375568901 |
97 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765550323 CA6728900 |
97 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6728904 rs751829052 |
98 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA6728903 rs766764247 |
98 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6728905 rs755054684 |
99 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA6728907 rs560926679 |
99 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1437351219 CA386096967 |
100 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs757182383 CA6728908 |
100 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6728911 rs745607623 |
102 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745607623 CA6728910 |
102 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778689224 CA6728909 |
102 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592686256 CA386096978 |
103 | E>K | No |
ClinGen Ensembl |
|
|
CA6728912 rs779718219 |
104 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1043041666 CA386097026 |
110 | S>C | No |
ClinGen TOPMed |
|
|
rs1043041666 CA241437233 |
110 | S>G | No |
ClinGen TOPMed |
|
|
rs368663242 CA241437246 |
110 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1289583576 CA386097033 |
111 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA386097031 rs371589438 |
111 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6728914 rs371589438 |
111 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762230733 CA6728916 |
112 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1063997 CA241437265 |
114 | A>V | No |
ClinGen gnomAD |
|
|
CA6728918 rs773841437 |
115 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140037312 CA6728919 |
116 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1565788928 CA386097079 |
118 | G>D | No |
ClinGen Ensembl |
|
|
CA6728921 rs751879824 |
119 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6728922 rs752654847 |
119 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6728924 rs546312459 |
120 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778883490 CA6728926 |
123 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386097119 rs1362555625 |
124 | H>R | No |
ClinGen TOPMed |
|
|
CA386097115 rs1378420265 |
124 | H>Y | No |
ClinGen gnomAD |
|
|
CA6728929 rs758236190 |
125 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758236190 CA6728928 |
125 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746668569 CA6728930 |
127 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA241437395 rs202181482 |
128 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6728931 rs202181482 COSM239695 |
128 | A>T | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1063998 CA6728932 |
128 | A>V | No |
ClinGen ExAC |
|
|
CA386097197 rs1200077719 |
130 | R>K | No |
ClinGen gnomAD |
|
|
rs747750273 CA6728934 |
132 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747750273 CA6728933 |
132 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763534472 CA6728936 |
133 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs771444556 CA6728937 |
134 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA386097249 rs1241142866 COSM944735 |
134 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA386097267 rs142263510 |
135 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759686205 CA6728939 |
136 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6728940 rs767724593 |
139 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs767724593 CA6728941 |
139 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA6728945 rs758289104 |
143 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA6728946 rs779828379 |
144 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780963033 CA6728949 |
147 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs780963033 CA386097439 |
147 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA6728950 rs747726707 |
150 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747726707 CA386097479 |
150 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1063999 CA241437508 |
152 | Q>E | No |
ClinGen Ensembl |
|
|
rs878882439 CA241437580 |
154 | P>S | No |
ClinGen gnomAD |
|
|
rs878882439 CA241437516 |
154 | P>T | No |
ClinGen gnomAD |
|
|
rs368919889 CA6728953 |
157 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6728954 rs148288682 |
160 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6728956 rs200954496 |
161 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386097639 rs1178860706 |
162 | K>N | No |
ClinGen gnomAD |
|
|
CA6728957 rs772322322 |
162 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6728958 rs1064000 |
163 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA241437650 rs1064000 |
163 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151238385 COSM147581 CA6728959 |
165 | K>E | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA241437659 rs945114536 |
167 | E>A | No |
ClinGen Ensembl |
|
|
rs1209460444 CA386097679 |
168 | E>D | No |
ClinGen TOPMed |
|
|
CA6728960 rs35332676 VAR_048946 |
169 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6728963 rs150843726 |
171 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386097755 rs751445876 |
174 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6728966 rs751445876 |
174 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6728965 rs751445876 |
174 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6728968 rs200537628 |
175 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755788844 CA386097771 |
175 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6728969 rs755788844 |
175 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6728967 rs200537628 |
175 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756818692 CA6728972 |
176 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386097855 rs1479506805 |
181 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs746333361 CA6728974 |
183 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1378493997 CA386097905 |
184 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs772506189 CA6728975 |
188 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs775675059 CA6728976 |
189 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs747231961 CA6728977 |
191 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592686477 CA386098016 |
192 | K>Q | No |
ClinGen Ensembl |
|
|
CA386098022 rs1375012530 |
192 | K>R | No |
ClinGen TOPMed |
|
|
rs761945544 CA6728980 |
194 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6728984 rs376350812 |
197 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386098093 rs376350812 |
197 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763900459 CA6728987 |
198 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376200305 CA6728986 |
198 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6728989 rs372732576 |
201 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA241437823 rs1047030338 |
202 | P>S | No |
ClinGen TOPMed |
|
|
CA6728991 rs750966796 |
203 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386098158 rs1381465028 |
203 | S>P | No |
ClinGen TOPMed |
|
|
RCV000952982 rs118124881 CA6728992 |
204 | T>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs754870931 CA241437830 |
205 | S>L | No |
ClinGen Ensembl |
|
|
rs1219900868 CA386098211 |
206 | E>A | No |
ClinGen gnomAD |
|
|
rs142890783 CA6728995 |
208 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386098230 rs781432909 |
209 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6728997 rs781432909 |
209 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769939759 CA386098234 |
210 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769939759 CA6728999 |
210 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386098238 rs1592686545 |
211 | S>A | No |
ClinGen Ensembl |
|
|
CA6729002 rs377210503 |
212 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200974748 CA6729003 |
213 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1187047757 CA386098259 |
215 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6729005 rs763953904 |
216 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6729009 rs764803238 |
218 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6729010 rs764803238 |
218 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764803238 CA6729008 |
218 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6729012 rs143859184 |
219 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6729011 rs143859184 |
219 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs532073265 CA6729014 |
220 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs544518972 CA241437973 |
221 | K>E | No |
ClinGen 1000Genomes TOPMed |
|
|
rs544518972 CA386098288 |
221 | K>Q | No |
ClinGen 1000Genomes TOPMed |
|
|
CA386098291 rs1458920836 |
221 | K>R | No |
ClinGen gnomAD |
|
|
rs377439921 CA6729015 |
222 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6729016 rs144847499 |
223 | S>A | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM1747309 CA6729017 rs777923922 |
224 | S>C | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
CA386098316 rs1363962912 |
225 | L>F | No |
ClinGen TOPMed |
|
|
RCV000880928 CA6729018 rs28444655 |
226 | M>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA386098322 rs1592686593 |
226 | M>T | No |
ClinGen Ensembl |
|
|
rs548883198 CA6729019 |
229 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6729020 rs142048091 |
229 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA241438012 rs896984854 |
229 | N>T | No |
ClinGen gnomAD |
|
|
CA386098344 rs1466448645 |
230 | A>T | No |
ClinGen gnomAD |
|
|
CA6729022 rs768600542 |
231 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6729023 rs768600542 |
231 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761537465 CA6729024 |
231 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6729025 rs764853503 |
232 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA6729027 rs762408389 |
235 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs752081794 CA6729029 |
236 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767873072 CA6729031 |
238 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs752949234 CA386098414 |
242 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183513560 CA386098415 |
242 | R>Q | No |
ClinGen gnomAD |
|
|
rs752949234 CA6729032 |
242 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367960332 CA6729035 COSM944736 |
244 | P>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA241438116 rs1054602 |
249 | N>K | No |
ClinGen Ensembl |
|
|
CA6729038 rs746944874 |
249 | N>T | No |
ClinGen ExAC |
|
|
rs768652083 CA6729039 |
250 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs769599214 CA6729043 |
252 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6729044 rs772789272 |
252 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA386098473 rs1360741596 |
253 | P>S | No |
ClinGen gnomAD |
|
|
rs1343870705 CA386098484 |
254 | S>F | No |
ClinGen TOPMed |
|
|
rs1341219780 CA386098495 |
256 | H>Y | No |
ClinGen gnomAD |
|
|
CA386098501 rs1223076454 |
257 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6729046 rs371714304 |
257 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs527694650 CA6729047 |
258 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1055721508 CA241438181 |
259 | L>F | No |
ClinGen TOPMed |
|
|
CA6729048 rs760050930 |
261 | L>R | No |
ClinGen ExAC |
|
|
rs768071525 CA6729049 |
262 | E>G | No |
ClinGen ExAC |
|
|
rs1565789360 CA386098531 |
262 | E>K | No |
ClinGen Ensembl |
|
|
CA6729050 rs753246308 |
263 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs753246308 CA386098539 |
263 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6729052 rs200446514 |
264 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6729053 rs200446514 |
264 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477869285 CA386098544 |
264 | A>V | No |
ClinGen gnomAD |
|
|
CA6729054 rs757483963 |
265 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs745999893 CA6729056 |
266 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs779142846 CA6729055 |
266 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1360578953 CA386098569 |
268 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6729059 rs748094393 |
269 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6729060 rs748094393 |
269 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151152137 CA6729062 |
270 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs151152137 CA6729061 |
270 | S>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3359982 rs199857700 CA241438331 |
271 | L>R | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA6729063 rs748842994 |
272 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1021239992 CA241438347 |
273 | P>S | No |
ClinGen Ensembl |
|
|
rs1209866331 CA386098604 |
274 | L>W | No |
ClinGen gnomAD |
|
|
rs1291971400 CA386098611 |
275 | N>S | No |
ClinGen gnomAD |
|
|
CA386098623 rs1220057242 |
277 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA386098630 rs1301668988 |
278 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA386098631 rs1301668988 |
278 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
rs778237728 CA6729066 |
279 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1288143093 CA386098634 |
279 | G>D | No |
ClinGen gnomAD |
|
|
rs1240594452 CA386098661 |
283 | K>R | No |
ClinGen gnomAD |
|
|
CA6729069 rs764402144 |
284 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs374738829 CA241438419 |
285 | P>L | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs556908477 CA6729070 |
286 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6729071 rs569056023 |
288 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1387524992 CA386098688 |
288 | P>R | No |
ClinGen TOPMed |
|
|
rs569056023 CA386098686 |
288 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs569056023 CA6729072 |
288 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6729074 rs750640429 |
289 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780131090 CA6729075 |
289 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs780131090 CA386098692 |
289 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA6729073 rs750640429 |
289 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287127931 CA386098718 |
293 | K>I | No |
ClinGen TOPMed |
|
|
CA241438484 rs954412819 |
294 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs866414172 CA241438487 |
294 | P>L | No |
ClinGen Ensembl |
|
|
rs954412819 CA241438485 |
294 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs756013341 CA6729077 |
296 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs749140506 CA6729079 |
301 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386098773 rs1444381941 |
302 | P>A | No |
ClinGen gnomAD |
|
|
CA386098777 rs1311322502 |
302 | P>L | No |
ClinGen gnomAD |
|
|
CA386098774 rs1444381941 |
302 | P>S | No |
ClinGen gnomAD |
|
|
CA6729081 rs536026245 |
303 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386098786 rs1323015564 |
304 | L>P | No |
ClinGen gnomAD |
|
|
rs771508790 CA6729083 |
305 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367693428 CA241438544 |
306 | L>I | No |
ClinGen Ensembl |
|
|
rs776863935 CA6729085 |
308 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6729086 rs769260115 |
309 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6729088 rs762306653 COSM1205195 |
310 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs762306653 CA386098815 |
310 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6729089 rs765672381 |
311 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA6729090 rs750695714 |
311 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs765672381 CA386098821 |
311 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA386098826 rs1463843968 |
312 | G>S | No |
ClinGen gnomAD |
|
|
rs1377372154 CA386098835 |
313 | S>F | No |
ClinGen gnomAD |
|
|
CA6729093 rs751599496 |
315 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751599496 CA6729094 |
315 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6729095 rs138659793 |
315 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386098871 rs1257004946 |
319 | P>A | No |
ClinGen gnomAD |
|
|
CA6729097 rs757095557 |
320 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386098876 rs1451771802 |
320 | A>T | No |
ClinGen TOPMed |
|
|
CA386098892 rs1426761756 |
322 | P>L | No |
ClinGen Ensembl |
|
|
rs778634088 CA6729098 |
323 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592686888 CA386098916 |
327 | T>P | No |
ClinGen Ensembl |
|
|
CA386098940 rs1186050365 |
330 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA386098957 rs375459689 |
333 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6729105 rs375459689 |
333 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386098960 rs1171672917 |
333 | A>V | No |
ClinGen gnomAD |
|
|
rs1258873868 CA386098966 |
334 | Q>L | No |
ClinGen TOPMed |
|
|
CA386098993 rs1230632406 |
336 | P>T | No |
ClinGen gnomAD |
|
|
rs1276931786 CA386098998 |
337 | N>D | No |
ClinGen gnomAD |
|
|
CA241448297 rs201593504 |
338 | G>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA241448302 rs1039875506 |
340 | L>P | No |
ClinGen TOPMed |
|
|
CA6729117 rs750272313 |
342 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6729118 rs758120639 COSM550345 |
343 | P>L | lung large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6729122 rs780808458 |
346 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA241448336 rs764069336 |
347 | L>F | No |
ClinGen Ensembl |
|
|
CA386099064 rs1420962288 |
348 | S>C | No |
ClinGen gnomAD |
|
|
rs1158667105 CA386099078 |
350 | I>T | No |
ClinGen gnomAD |
|
|
CA386099087 rs1471352165 |
351 | H>Q | No |
ClinGen gnomAD |
|
|
rs770367243 CA6729124 |
353 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386099107 rs1384645921 |
354 | S>C | No |
ClinGen gnomAD |
|
|
rs959302686 CA241448343 |
354 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs373673671 CA6729125 |
357 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1157258409 CA386099135 |
358 | P>S | No |
ClinGen gnomAD |
|
|
CA6729126 rs749729899 |
359 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1307686025 CA386099148 |
360 | A>G | No |
ClinGen gnomAD |
|
|
CA6729127 rs771171410 |
361 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386099168 rs1264873892 |
364 | P>T | No |
ClinGen gnomAD |
|
|
CA6729128 rs143649233 |
365 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6729129 rs759631190 |
367 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA386099194 rs1177830765 |
368 | Q>R | No |
ClinGen gnomAD |
|
|
CA386099198 rs1391570902 |
369 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs761757341 CA6729133 |
372 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1164610887 CA386099237 |
375 | Q>* | No |
ClinGen gnomAD |
|
|
CA386099242 rs1337537555 |
375 | Q>H | No |
ClinGen gnomAD |
|
|
CA386099268 rs1400748512 |
377 | P>L | No |
ClinGen gnomAD |
|
|
CA6729152 rs760780471 |
378 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs768697321 CA6729153 |
378 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6729154 rs768697321 |
378 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs766199561 CA6729156 |
380 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs759391172 CA6729158 |
381 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142850366 CA6729159 |
383 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1482212439 CA386099311 |
384 | M>I | No |
ClinGen gnomAD |
|
|
rs1257540346 CA386099329 |
387 | P>L | No |
ClinGen gnomAD |
|
|
CA6729161 rs541968932 |
388 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754403067 CA6729163 |
389 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777371931 CA6729162 |
389 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA241451817 rs1012054572 |
390 | S>C | No |
ClinGen Ensembl |
|
|
rs1429457584 CA386099351 |
391 | L>R | No |
ClinGen gnomAD |
|
|
rs1467969413 CA386099366 |
393 | R>S | No |
ClinGen gnomAD |
|
|
rs138930220 CA6729168 |
397 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142164746 CA6729169 |
398 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368507409 CA6729171 |
399 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs368507409 CA241451870 |
399 | L>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1386454605 CA386099396 |
399 | L>V | No |
ClinGen gnomAD |
|
|
rs1310235673 CA386099409 |
401 | S>F | No |
ClinGen gnomAD |
|
|
CA6729172 rs776505682 |
403 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1352291760 CA386099429 |
405 | Q>K | No |
ClinGen gnomAD |
|
|
CA6729173 rs762959909 |
406 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA386099454 rs1485965092 |
408 | S>C | No |
ClinGen gnomAD |
|
|
CA6729174 rs770830457 |
408 | S>S | No |
ClinGen ExAC gnomAD |
No associated diseases with P41970
4 regional properties for P41970
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Homeobox domain | 264 - 328 | IPR001356 |
| domain | Zinc finger, LIM-type | 51 - 112 | IPR001781-1 |
| domain | Zinc finger, LIM-type | 113 - 175 | IPR001781-2 |
| conserved_site | Homeobox, conserved site | 299 - 322 | IPR017970 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| 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. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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 | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
| 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. |
| DNA-binding transcription repressor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II. |
| purine-rich negative regulatory element binding | Binding to a 30-bp purine-rich negative regulatory element; the best characterized such element is found in the first intronic region of the rat cardiac alpha-myosin heavy chain gene, and contains two palindromic high-affinity Ets-binding sites (CTTCCCTGGAAG). The presence of this element restricts expression of the gene containing it to cardiac myocytes. |
| 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 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. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| angiogenesis | Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. |
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| negative regulation of transcription, DNA-templated | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| 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. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| wound healing | The series of events that restore integrity to a damaged tissue, following an injury. |
40 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A1A4L6 | ETS2 | Protein C-ets-2 | Bos taurus (Bovine) | SS |
| Q2KIC2 | ETV1 | ETS translocation variant 1 | Bos taurus (Bovine) | SS |
| P15062 | ETS1 | Transforming protein p68/c-ets-1 | Gallus gallus (Chicken) | SS |
| P10157 | ETS2 | Protein C-ets-2 | Gallus gallus (Chicken) | SS |
| Q90837 | ERG | Transcriptional regulator Erg | Gallus gallus (Chicken) | SS |
| A2T762 | ETV3 | ETS translocation variant 3 | Pan troglodytes (Chimpanzee) | PR |
| Q04688 | Ets97D | DNA-binding protein Ets97D | Drosophila melanogaster (Fruit fly) | PR |
| P15036 | ETS2 | Protein C-ets-2 | Homo sapiens (Human) | EV |
| Q06546 | GABPA | GA-binding protein alpha chain | Homo sapiens (Human) | SS |
| Q9Y603 | ETV7 | Transcription factor ETV7 | Homo sapiens (Human) | SS |
| P41212 | ETV6 | Transcription factor ETV6 | Homo sapiens (Human) | SS |
| P78545 | ELF3 | ETS-related transcription factor Elf-3 | Homo sapiens (Human) | SS |
| Q9UKW6 | ELF5 | ETS-related transcription factor Elf-5 | Homo sapiens (Human) | EV |
| P32519 | ELF1 | ETS-related transcription factor Elf-1 | Homo sapiens (Human) | PR |
| Q99607 | ELF4 | ETS-related transcription factor Elf-4 | Homo sapiens (Human) | PR |
| O95238 | SPDEF | SAM pointed domain-containing Ets transcription factor | Homo sapiens (Human) | PR |
| P50548 | ERF | ETS domain-containing transcription factor ERF | Homo sapiens (Human) | PR |
| P41162 | ETV3 | ETS translocation variant 3 | Homo sapiens (Human) | PR |
| P11308 | ERG | Transcriptional regulator ERG | Homo sapiens (Human) | EV |
| P43268 | ETV4 | ETS translocation variant 4 | Homo sapiens (Human) | EV |
| P41161 | ETV5 | ETS translocation variant 5 | Homo sapiens (Human) | SS |
| P50549 | ETV1 | ETS translocation variant 1 | Homo sapiens (Human) | EV |
| P28324 | ELK4 | ETS domain-containing protein Elk-4 | Homo sapiens (Human) | EV |
| P19419 | ELK1 | ETS domain-containing protein Elk-1 | Homo sapiens (Human) | EV |
| P14921 | ETS1 | Protein C-ets-1 | Homo sapiens (Human) | EV |
| Q00422 | Gabpa | GA-binding protein alpha chain | Mus musculus (Mouse) | EV |
| P28322 | Etv4 | ETS translocation variant 4 | Mus musculus (Mouse) | SS |
| P15037 | Ets2 | Protein C-ets-2 | Mus musculus (Mouse) | SS |
| P27577 | Ets1 | Protein C-ets-1 | Mus musculus (Mouse) | EV |
| P70459 | Erf | ETS domain-containing transcription factor ERF | Mus musculus (Mouse) | PR |
| Q9CXC9 | Etv5 | ETS translocation variant 5 | Mus musculus (Mouse) | SS |
| P41164 | Etv1 | ETS translocation variant 1 | Mus musculus (Mouse) | SS |
| P81270 | Erg | Transcriptional regulator ERG | Mus musculus (Mouse) | SS |
| P41158 | Elk4 | ETS domain-containing protein Elk-4 | Mus musculus (Mouse) | PR |
| P41969 | Elk1 | ETS domain-containing protein Elk-1 | Mus musculus (Mouse) | PR |
| P41971 | Elk3 | ETS domain-containing protein Elk-3 | Mus musculus (Mouse) | EV |
| P41156 | Ets1 | Protein C-ets-1 | Rattus norvegicus (Rat) | SS |
| A4GTP4 | Elk1 | ETS domain-containing protein Elk-1 | Rattus norvegicus (Rat) | PR |
| Q9PUQ1 | etv4 | ETS translocation variant 4 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| A3FEM2 | fev | Protein FEV | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MESAITLWQF | LLQLLLDQKH | EHLICWTSND | GEFKLLKAEE | VAKLWGLRKN | KTNMNYDKLS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RALRYYYDKN | IIKKVIGQKF | VYKFVSFPEI | LKMDPHAVEI | SRESLLLQDS | DCKASPEGRE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AHKHGLAALR | STSRNEYIHS | GLYSSFTINS | LQNPPDAFKA | IKTEKLEEPP | EDSPPVEEVR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TVIRFVTNKT | DKHVTRPVVS | LPSTSEAAAA | SAFLASSVSA | KISSLMLPNA | ASISSASPFS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SRSPSLSPNS | PLPSEHRSLF | LEAACHDSDS | LEPLNLSSGS | KTKSPSLPPK | AKKPKGLEIS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| APPLVLSGTD | IGSIALNSPA | LPSGSLTPAF | FTAQTPNGLL | LTPSPLLSSI | HFWSSLSPVA |
| 370 | 380 | 390 | 400 | ||
| PLSPARLQGP | STLFQFPTLL | NGHMPVPIPS | LDRAASPVLL | SSNSQKS |