Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

2 structures for Q14919

Entry ID Method Resolution Chain Position Source
1JFI X-ray 262 A A 1-77 PDB
AF-Q14919-F1 Predicted AlphaFoldDB

172 variants for Q14919

Variant ID(s) Position Change Description Diseaes Association Provenance
CA381376252
rs1230599132
2 P>L No ClinGen
gnomAD
TCGA novel 3 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1341197444
CA381376271
4 K>Q No ClinGen
TOPMed
gnomAD
CA381376279
rs1222897599
4 K>R No ClinGen
gnomAD
CA6112148
rs747634661
10 A>S No ClinGen
ExAC
gnomAD
TCGA novel 12 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 14 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 15 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1394777832
CA381378343
18 K>R No ClinGen
Ensembl
TCGA novel 20 I>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765527473
CA6112173
21 M>V No ClinGen
ExAC
gnomAD
CA381378418
rs1303832206
22 Q>* No ClinGen
TOPMed
CA6112174
rs775993555
23 T>M No ClinGen
ExAC
gnomAD
rs370030690
CA224016933
26 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1277141575
CA381378565
30 V>M No ClinGen
gnomAD
CA6112179
rs201738884
32 A>G No ClinGen
1000Genomes
ExAC
gnomAD
CA381378597
rs1442396393
32 A>T No ClinGen
gnomAD
CA6112178
rs201738884
32 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1591101379
CA381378633
34 V>G No ClinGen
Ensembl
rs753828914
CA6112180
35 P>L No ClinGen
ExAC
gnomAD
CA381378666
rs1172273425
37 I>V No ClinGen
TOPMed
TCGA novel 38 I>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1181745938
CA381378710
39 S>A No ClinGen
gnomAD
CA224017023
rs1003675475
40 R>Q No ClinGen
TOPMed
gnomAD
rs1435106278
CA381378793
40 R>W No ClinGen
gnomAD
rs895419376
CA381378826
41 A>E No ClinGen
TOPMed
gnomAD
rs539142750
CA6112199
41 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA224017026
rs895419376
41 A>V No ClinGen
TOPMed
gnomAD
CA381378880
rs1471754549
43 E>D No ClinGen
TOPMed
CA6112201
rs752391356
44 L>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 45 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6112203
rs777230237
46 L>I No ClinGen
ExAC
TOPMed
gnomAD
rs924507193
CA224017042
48 S>L No ClinGen
TOPMed
rs1457645937
CA381379007
49 L>P No ClinGen
TOPMed
CA381379110
rs1447630272
52 K>N No ClinGen
gnomAD
CA6112205
rs756973190
53 A>V No ClinGen
ExAC
gnomAD
rs745436509
CA6112207
55 Q>* No ClinGen
ExAC
gnomAD
rs1161100696
CA381379207
55 Q>H No ClinGen
TOPMed
gnomAD
rs1591101497
CA381379234
56 V>G No ClinGen
Ensembl
rs1245544184
CA381379384
61 N>K No ClinGen
TOPMed
rs780642209
CA6112209
65 M>V No ClinGen
ExAC
gnomAD
rs1385799799
CA381379518
66 T>I No ClinGen
gnomAD
CA6112210
rs143982811
67 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA381379555
rs1342638376
69 H>Y No ClinGen
TOPMed
gnomAD
CA381379808
rs1230992913
71 K>R No ClinGen
TOPMed
gnomAD
CA381379811
rs1230992913
71 K>T No ClinGen
TOPMed
gnomAD
TCGA novel 78 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA224017271
rs761980588
82 F>L No ClinGen
Ensembl
CA6112244
rs765897732
88 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA6112245
rs753337480
89 S>A No ClinGen
ExAC
gnomAD
CA381380356
rs1309140747
91 P>R No ClinGen
TOPMed
rs1432041576
CA381380351
91 P>S No ClinGen
gnomAD
rs140904739
CA224017287
93 M>V No ClinGen
ESP
gnomAD
CA6112248
rs779595242
95 G>R No ClinGen
ExAC
gnomAD
rs748470098
CA6112249
95 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs778071745
CA6112251
96 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA6112252
rs143062944
97 G>R No ClinGen
ESP
ExAC
gnomAD
CA381380625
rs1331053839
98 E>K No ClinGen
TOPMed
CA381380686
rs1462964506
100 N>D No ClinGen
TOPMed
CA6112256
rs768545872
102 M>I No ClinGen
ExAC
gnomAD
rs141033990
CA6112255
102 M>T No ClinGen
ESP
ExAC
gnomAD
CA6112254
rs543738162
102 M>V No ClinGen
1000Genomes
ExAC
gnomAD
CA381380784
rs774294429
103 D>H No ClinGen
ExAC
gnomAD
CA6112257
rs774294429
103 D>N No ClinGen
ExAC
gnomAD
rs761538985
CA6112258
104 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA6112260
rs371036532
106 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6112261
rs760351628
108 A>T No ClinGen
ExAC
gnomAD
rs150283691
CA6112262
109 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1438025090
CA381380901
109 R>P No ClinGen
TOPMed
CA381381168
rs1212848910
111 G>S No ClinGen
gnomAD
rs368472384
COSM1739748
CA6112284
112 R>Q NS [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6112283
rs759048752
112 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1254200181
CA381381282
115 G>C No ClinGen
gnomAD
TCGA novel 116 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763532913
CA6112287
117 G>S No ClinGen
ExAC
gnomAD
CA224017377
rs867126309
118 G>D No ClinGen
gnomAD
rs1159566380
CA381381382
118 G>S No ClinGen
TOPMed
CA224017379
rs969878412
119 R>G No ClinGen
TOPMed
rs1373398145
CA381381430
119 R>Q No ClinGen
gnomAD
CA381381412
COSM1204541
rs969878412
119 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
CA381381447
rs1591101908
120 K>E No ClinGen
Ensembl
rs1308282104
CA381381487
121 N>T No ClinGen
TOPMed
gnomAD
rs1351998924
CA381381506
122 G>S No ClinGen
gnomAD
CA381381561
rs1439528891
123 G>E No ClinGen
gnomAD
rs973368266
CA224017380
123 G>R No ClinGen
Ensembl
rs992162385
CA224017382
124 M>T No ClinGen
TOPMed
gnomAD
CA381381686
rs1367675675
126 T>M No ClinGen
gnomAD
CA381381682
rs1367675675
126 T>R No ClinGen
gnomAD
CA381381712
rs1278736552
127 K>R No ClinGen
gnomAD
rs528558933
CA6112290
128 S>R No ClinGen
1000Genomes
ExAC
gnomAD
CA381381759
rs1206254669
129 K>E No ClinGen
gnomAD
CA6112291
rs370429317
130 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA381381792
rs1482220567
130 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs750651508
CA6112292
131 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs950426651
CA224017386
134 S>C No ClinGen
TOPMed
TCGA novel
rs749407519
CA6112295
135 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
ExAC
gnomAD
rs1228881174
CA381382143
138 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA6112316
rs529754496
142 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA381382524
rs1437763431
143 E>K No ClinGen
TOPMed
CA224017481
rs781110835
144 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA6112317
rs781110835
144 S>Y No ClinGen
ExAC
TOPMed
gnomAD
CA381382667
rs769532800
146 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs745699388
CA6112318
146 D>N No ClinGen
ExAC
TOPMed
gnomAD
COSM358561
CA224017487
rs1018604621
147 T>A lung [Cosmic] No ClinGen
cosmic curated
Ensembl
CA381382704
rs1473613514
147 T>I No ClinGen
gnomAD
CA6112320
rs199540648
148 D>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA224017494
rs111381779
149 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6112321
rs111381779
149 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA224017497
rs777795705
151 G>R No ClinGen
Ensembl
CA6112322
rs138267909
152 E>K No ClinGen
ESP
ExAC
gnomAD
CA6112324
rs762216373
154 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs762216373
CA381382948
154 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA224017503
rs909423551
154 E>K No ClinGen
TOPMed
gnomAD
rs1591102205
CA381383056
157 Q>H No ClinGen
Ensembl
rs1292826685
CA381383075
158 P>H No ClinGen
gnomAD
rs773522319
CA381383071
158 P>S No ClinGen
ExAC
gnomAD
CA6112326
rs773522319
158 P>T No ClinGen
ExAC
gnomAD
rs535528544
CA6112327
159 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs923531664
CA224017524
160 P>L No ClinGen
TOPMed
rs1313682527
CA381383111
160 P>S No ClinGen
gnomAD
rs1348509305
CA381383124
161 Q>K No ClinGen
gnomAD
CA6112329
rs754063411
161 Q>R No ClinGen
ExAC
gnomAD
CA381383173
rs1470000923
162 A>T No ClinGen
TOPMed
CA381383246
rs1380517232
163 S>R No ClinGen
TOPMed
gnomAD
CA381383259
rs1256669222
164 H>D No ClinGen
gnomAD
rs755293005
CA6112330
165 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1486498200
CA381383300
165 P>S No ClinGen
gnomAD
rs1133928
CA224017536
166 S>F No ClinGen
gnomAD
rs1133928
CA381383329
166 S>Y No ClinGen
gnomAD
rs1338500918
CA381383338
167 A>T No ClinGen
TOPMed
gnomAD
rs10143
CA224017541
168 H>L No ClinGen
ExAC
TOPMed
gnomAD
rs10143
CA6112332
168 H>P No ClinGen
ExAC
TOPMed
gnomAD
rs924222620
CA224017545
169 F>C No ClinGen
TOPMed
rs1303469823
CA381383631
171 S>R No ClinGen
gnomAD
CA381383637
rs1443524049
172 P>A No ClinGen
TOPMed
CA6112356
rs756191355
173 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA381383666
rs756191355
173 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs751570365 174 T>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs753718615
CA6112358
175 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201871633
CA6112359
177 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778647605
CA6112360
178 P>L No ClinGen
ExAC
gnomAD
CA381383801
rs777331540
180 A>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs777331540
COSM930582
CA6112363
180 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs747500157
CA6112364
180 A>V No ClinGen
ExAC
gnomAD
rs1055612
CA224017737
181 S>F No ClinGen
Ensembl
CA381383900
rs1430597685
183 L>M No ClinGen
TOPMed
gnomAD
rs1430597685
CA381383902
183 L>V No ClinGen
TOPMed
gnomAD
CA6112366
rs200905448
184 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA381383917
rs1591102485
184 P>S No ClinGen
Ensembl
rs1469950476
CA381383950
185 L>F No ClinGen
TOPMed
gnomAD
rs568931883
CA6112368
186 P>L No ClinGen
1000Genomes
ExAC
gnomAD
CA381383997
rs1293575746
187 P>L No ClinGen
TOPMed
CA6112370
rs763060612
188 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA381384032
rs1315549961
189 P>H No ClinGen
TOPMed
CA6112373
rs368226803
190 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754813408
CA6112376
192 P>L No ClinGen
ExAC
gnomAD
CA6112378
rs752385950
193 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA224017762
COSM1561657
rs143922438
194 A>T large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
NCI-TCGA
CA6112380
rs777241976
196 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA6112381
rs144277926
198 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371695352
CA224017773
199 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA224017769
rs957107181
199 D>N No ClinGen
Ensembl
CA381384226
rs1249147380
199 D>V No ClinGen
gnomAD
rs1159505236
CA381384238
200 E>G No ClinGen
TOPMed
CA6112383
rs781734189
200 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs746162493
CA6112384
201 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1424674528
CA381384246
201 E>K No ClinGen
gnomAD
CA381384250
rs1424674528
201 E>Q No ClinGen
gnomAD
CA6112385
rs201827894
202 D>N No ClinGen
1000Genomes
ExAC
gnomAD
rs552975920
CA6112387
204 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA381384342
rs1345762640
205 S>P No ClinGen
gnomAD
CA381384367
rs1198595991
206 S>W No ClinGen
TOPMed

No associated diseases with Q14919

3 regional properties for Q14919

Type Name Position InterPro Accession
domain SWIB/MDM2 domain 306 - 383 IPR003121
domain SWIB domain 307 - 386 IPR019835
domain SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D 2, SWIB domain 307 - 386 IPR030090

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
negative cofactor 2 complex A heterodimeric protein complex that can stably associate with TATA-binding protein on promoters, thereby preventing the assembly of transcription factors TFIIA and TFIIB and leading to repression of RNA polymerase II transcription. The two subunits, NC2alpha (Drap1) and NC2beta (Dr1), dimerize through histone fold domains of the H2A/H2B type present in the amino termini.
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.
RNA polymerase II transcription regulator complex A transcription factor complex that acts at a regulatory region of a gene transcribed by RNA polymerase II.

8 GO annotations of molecular function

Name Definition
core promoter sequence-specific DNA binding Binding to a sequence of DNA that is part of a core promoter region. The core promoter is composed of the transcription start site and binding sites for the RNA polymerase and the basal transcription machinery. The transcribed region might be described as a gene, cistron, or operon.
identical protein binding Binding to an identical protein or proteins.
protein heterodimerization activity Binding to a nonidentical protein to form a heterodimer.
RNA polymerase II general transcription initiation factor activity A general transcription initiation factor activity that contributes to transcription start site selection and transcription initiation of genes transcribed by RNA polymerase II. The general transcription factors for RNA polymerase II include TFIIB, TFIID, TFIIE, TFIIF, TFIIH and TATA-binding protein (TBP). In most species, RNA polymerase II transcribes all messenger RNAs (mRNAs), most untranslated regulatory RNAs, the majority of the snoRNAs, four of the five snRNAs (U1, U2, U4, and U5), and other small noncoding RNAs. For some small RNAs there is variability between species as to whether it is transcribed by RNA polymerase II or RNA polymerase III. However there are also rare exceptions, such as Trypanosoma brucei, where RNA polymerase I transcribes certain mRNAs in addition to its normal role in rRNA transcription.
RNA polymerase II general transcription initiation factor binding Binding to a basal RNA polymerase II transcription factor, any of the factors involved in formation of the preinitiation complex (PIC) by RNA polymerase II and defined as a basal or general transcription factor.
TBP-class protein binding Binding to a member of the class of TATA-binding proteins (TBP), including any of the TBP-related factors (TRFs).
transcription coactivator activity A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator.
transcription corepressor activity A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators.

4 GO annotations of biological process

Name Definition
negative regulation of transcription by RNA polymerase II Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
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 DNA-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
transcription by RNA polymerase II The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs).

4 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P40096 BUR6 Negative cofactor 2 complex subunit alpha Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q2YDP3 DRAP1 Dr1-associated corepressor Bos taurus (Bovine) PR
Q9D6N5 Drap1 Dr1-associated corepressor Mus musculus (Mouse) PR
A0JPP1 Drap1 Dr1-associated corepressor Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MPSKKKKYNA RFPPARIKKI MQTDEEIGKV AAAVPVIISR ALELFLESLL KKACQVTQSR
70 80 90 100 110 120
NAKTMTTSHL KQCIELEQQF DFLKDLVASV PDMQGDGEDN HMDGDKGARR GRKPGSGGRK
130 140 150 160 170 180
NGGMGTKSKD KKLSGTDSEQ EDESEDTDTD GEEETSQPPP QASHPSAHFQ SPPTPFLPFA
190 200
STLPLPPAPP GPSAPDEEDE EDYDS