O14595
Gene name |
CTDSP2 (NIF2, OS4, SCP2) |
Protein name |
Carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 |
Names |
Nuclear LIM interactor-interacting factor 2, NLI-interacting factor 2, Protein OS-4, Small C-terminal domain phosphatase 2, Small CTD phosphatase 2, SCP2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10106 |
EC number |
3.1.3.16: Phosphoric monoester hydrolases |
Protein Class |
|
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 O14595
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2Q5E | X-ray | 251 A | A/B/C/D/E/F/G/H | 87-271 | PDB |
| AF-O14595-F1 | Predicted | AlphaFoldDB |
234 variants for O14595
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1592246047 CA385514340 |
2 | E>A | No |
ClinGen Ensembl |
|
|
rs1592246043 CA385514320 |
3 | H>P | No |
ClinGen Ensembl |
|
|
CA237829732 rs74554628 |
3 | H>Q | No |
ClinGen gnomAD |
|
|
CA385514296 rs1399403046 |
4 | G>D | No |
ClinGen TOPMed |
|
|
CA6660685 rs760623765 |
4 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs778207480 CA385514239 |
7 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237829715 rs112054763 |
7 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs778207480 CA6660683 |
7 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439051985 CA385514222 |
8 | T>A | No |
ClinGen gnomAD |
|
|
rs1365203165 CA385514212 |
8 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1232162568 CA385514188 |
10 | A>V | No |
ClinGen TOPMed |
|
|
rs745667327 CA385514183 |
11 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs745667327 CA6660682 COSM1363457 |
11 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs796887934 CA237829711 |
11 | R>W | No |
ClinGen Ensembl |
|
|
rs778748540 CA6660681 |
12 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs778748540 CA237829696 |
12 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA385514163 rs1420994238 |
13 | E>K | No |
ClinGen gnomAD |
|
|
rs1380452451 CA385514150 |
13 | E>V | No |
ClinGen gnomAD |
|
|
rs1452227615 CA385514113 |
15 | A>S | No |
ClinGen gnomAD |
|
|
rs1269862643 CA385514094 |
16 | L>P | No |
ClinGen gnomAD |
|
|
CA385514083 rs1264306882 |
17 | V>L | No |
ClinGen TOPMed |
|
|
CA385514045 rs1485793872 |
19 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA385514039 rs1485793872 |
19 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1240867431 CA385514026 |
20 | K>E | No |
ClinGen gnomAD |
|
|
CA6660654 rs758948371 |
22 | G>D | No |
ClinGen ExAC |
|
|
CA6660653 rs746413808 |
23 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA385508827 rs1161415481 |
26 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 26 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385508824 rs1421892768 |
26 | K>R | No |
ClinGen gnomAD |
|
|
CA385508818 rs1389694042 |
27 | S>A | No |
ClinGen TOPMed |
|
|
rs779294412 CA6660652 |
27 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs556842470 CA6660650 |
29 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs141458856 CA6660651 |
29 | P>S | No |
ClinGen 1000Genomes ExAC |
|
|
rs902879976 CA237822309 |
32 | P>S | No |
ClinGen TOPMed |
|
|
rs764230836 COSM3417044 CA6660649 |
33 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
| TCGA novel | 34 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6660648 rs756395154 |
35 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6660647 rs752762135 |
35 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752762135 CA385508771 |
35 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1425629986 CA385508760 |
37 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 43 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385508705 rs1195422665 |
44 | C>R | No |
ClinGen gnomAD |
|
|
CA385508688 rs1479804428 |
46 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs767635273 CA6660646 |
46 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767635273 CA385508687 |
46 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385508685 rs1200318721 |
47 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs759439752 CA6660645 |
47 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385508673 rs1242585123 |
48 | Q>R | No |
ClinGen gnomAD |
|
|
CA385508664 rs1376235665 |
49 | H>L | No |
ClinGen TOPMed |
|
|
CA385508665 rs1376235665 |
49 | H>P | No |
ClinGen TOPMed |
|
|
CA385508666 rs1376235665 |
49 | H>R | No |
ClinGen TOPMed |
|
|
CA6660644 rs368927568 |
51 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs112213098 CA237822299 |
52 | Q>K | No |
ClinGen Ensembl |
|
|
CA6660642 rs373703024 |
52 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6660643 rs373703024 |
52 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237822295 rs920674389 |
54 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs920674389 CA385508638 |
54 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA385508637 rs1397705018 |
54 | S>N | No |
ClinGen gnomAD |
|
|
CA6660640 rs375513599 |
55 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769313778 CA6660639 |
57 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA6660638 rs538213727 |
57 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1161964288 CA385508612 |
58 | E>A | No |
ClinGen gnomAD |
|
|
rs567679377 CA6660636 |
60 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1181206830 CA385508598 |
61 | A>T | No |
ClinGen gnomAD |
|
|
CA385508593 rs1437999525 |
61 | A>V | No |
ClinGen gnomAD |
|
|
CA385508560 rs1179567892 |
66 | A>T | No |
ClinGen gnomAD |
|
|
rs779305456 CA6660634 |
68 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA385508538 rs1595189641 |
69 | I>T | No |
ClinGen Ensembl |
|
|
CA6660633 rs771264162 |
69 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1358414978 CA385508517 |
71 | K>T | No |
ClinGen gnomAD |
|
|
rs1595188561 CA385508382 |
72 | S>L | No |
ClinGen Ensembl |
|
|
CA385508386 rs1203719482 |
72 | S>P | No |
ClinGen TOPMed |
|
|
CA385508369 rs1595188553 |
74 | L>Q | No |
ClinGen Ensembl |
|
|
CA385508351 rs1595188546 |
76 | Q>K | No |
ClinGen Ensembl |
|
|
CA385508336 rs1378053190 |
77 | C>G | No |
ClinGen gnomAD |
|
|
CA385508337 rs1378053190 |
77 | C>R | No |
ClinGen gnomAD |
|
|
CA6660608 rs371679234 |
77 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6660607 rs780227197 |
78 | L>V | No |
ClinGen ExAC gnomAD |
|
|
COSM3936082 CA385508313 rs1264660085 |
79 | Q>* | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs886186516 CA237821650 |
80 | Y>H | No |
ClinGen gnomAD |
|
|
CA385507390 rs1346122762 |
82 | F>S | No |
ClinGen gnomAD |
|
|
CA385507399 rs1220654481 |
82 | F>V | No |
ClinGen gnomAD |
|
|
CA6660604 rs200585191 |
83 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367623826 CA6660605 |
83 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765716568 CA6660578 |
85 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs776949485 COSM468731 CA6660576 |
94 | V>M | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA237821357 rs200210037 |
95 | T>A | No |
ClinGen 1000Genomes gnomAD |
|
|
rs201788317 CA237821355 |
95 | T>I | No |
ClinGen 1000Genomes |
|
|
rs75591888 COSM4147354 CA6660575 |
97 | E>K | thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs74343811 COSM4147353 CA237821344 |
98 | D>N | thyroid [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1025948959 CA237821339 |
99 | Q>E | No |
ClinGen gnomAD |
|
|
rs1025948959 CA237821341 |
99 | Q>K | No |
ClinGen gnomAD |
|
|
rs747149135 CA6660574 |
101 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237821334 rs747149135 |
101 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237821332 rs747149135 |
101 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1595188173 CA385506745 |
102 | I>M | No |
ClinGen Ensembl |
|
|
rs111346934 CA237821320 |
104 | V>M | No |
ClinGen Ensembl |
|
|
CA237821317 rs1056200123 |
105 | V>A | No |
ClinGen Ensembl |
|
|
CA385506683 rs1405443663 |
105 | V>F | No |
ClinGen gnomAD |
|
|
CA6660572 rs76940645 |
106 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385506607 rs1441212674 |
107 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 107 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA237821306 rs796375970 |
108 | L>I | No |
ClinGen Ensembl |
|
|
CA385506556 rs1191005064 |
109 | D>E | No |
ClinGen gnomAD |
|
|
rs779193643 CA6660569 |
109 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs1595188149 CA385506561 |
109 | D>V | No |
ClinGen Ensembl |
|
|
CA6660568 rs757239164 |
111 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs757239164 CA237821284 |
111 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs749282099 CA6660567 |
114 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1223017872 CA385506414 |
115 | S>T | No |
ClinGen gnomAD |
|
|
CA237821277 rs113533986 |
117 | F>I | No |
ClinGen Ensembl |
|
| TCGA novel | 118 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs568891111 CA385506143 |
120 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs568891111 COSM1177735 CA6660545 |
120 | I>V | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA385506106 rs1595187741 |
121 | N>S | No |
ClinGen Ensembl |
|
|
CA385505984 rs1595187734 |
125 | F>C | No |
ClinGen Ensembl |
|
|
rs1595187731 CA385505970 |
126 | I>L | No |
ClinGen Ensembl |
|
|
CA385505968 TCGA novel rs1595187731 |
126 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA6660544 rs769684225 |
128 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs769684225 CA385505914 |
128 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1565844419 CA385505898 |
129 | I>L | No |
ClinGen Ensembl |
|
|
rs1565844419 CA385505894 |
129 | I>V | No |
ClinGen Ensembl |
|
|
CA385505866 rs1595187716 |
130 | E>K | No |
ClinGen Ensembl |
|
|
rs1595187707 CA385505836 |
131 | I>F | No |
ClinGen Ensembl |
|
|
rs1595187707 CA385505845 |
131 | I>L | No |
ClinGen Ensembl |
|
|
rs747959366 CA385505819 |
131 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6660542 rs780894928 |
132 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs930251925 CA237821061 |
132 | E>K | No |
ClinGen gnomAD |
|
|
rs376623825 CA6660541 |
133 | G>E | No |
ClinGen ESP ExAC |
|
|
CA385505743 rs1177629887 |
134 | T>I | No |
ClinGen gnomAD |
|
|
rs1477745119 CA385505706 |
136 | H>Q | No |
ClinGen gnomAD |
|
|
CA6660469 rs764200649 |
138 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1441506759 CA385504674 |
139 | Y>C | No |
ClinGen gnomAD |
|
|
rs113443562 CA237820206 |
142 | K>M | No |
ClinGen Ensembl |
|
|
rs767288967 CA6660466 |
145 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs113598599 CA237820191 |
146 | V>M | No |
ClinGen Ensembl |
|
|
CA6660464 rs774272222 |
148 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385504462 rs1322349412 |
152 | R>C | No |
ClinGen TOPMed |
|
|
CA385504457 COSM1202573 rs1270875191 |
152 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1270875191 CA385504449 |
152 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA385504446 rs1338941692 |
153 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA385504444 rs1338941692 |
153 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6660461 rs772806247 |
155 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762703799 CA6660462 |
155 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs769447012 CA6660460 |
158 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs375402815 CA237820164 |
159 | C>Y | No |
ClinGen Ensembl |
|
|
CA385504019 rs1595185768 |
171 | D>A | No |
ClinGen Ensembl |
|
|
rs761403823 CA385504026 |
171 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761403823 CA6660440 |
171 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1595185756 CA385503989 |
173 | V>M | No |
ClinGen Ensembl |
|
|
CA385503964 rs1354850326 |
175 | D>H | No |
ClinGen TOPMed |
|
|
CA6660437 rs376232288 |
179 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1363453 rs772434435 CA6660438 |
179 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1298658118 CA385503865 |
180 | C>F | No |
ClinGen gnomAD |
|
|
rs1595185710 CA385503812 |
182 | V>G | No |
ClinGen Ensembl |
|
|
CA6660435 rs373350059 |
184 | R>Q | No |
ClinGen ESP ExAC |
|
|
CA6660436 rs779108955 |
184 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 185 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1424840470 CA385503769 |
185 | A>T | No |
ClinGen gnomAD |
|
|
rs762714721 CA237820079 |
186 | R>C | No |
ClinGen Ensembl |
|
|
rs1161842983 CA385503681 |
189 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1029081352 CA237820078 |
192 | C>R | No |
ClinGen Ensembl |
|
|
CA6660432 rs563483951 |
192 | C>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA237820063 rs904567774 |
193 | V>L | No |
ClinGen gnomAD |
|
|
CA385503562 COSM1238616 rs904567774 |
193 | V>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1049782028 CA237820056 |
195 | H>Y | No |
ClinGen TOPMed |
|
|
CA6660429 rs754828681 |
196 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs781385318 CA6660430 |
196 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237820042 rs369938855 |
200 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs113792624 CA237820038 |
201 | K>N | No |
ClinGen Ensembl |
|
| TCGA novel | 201 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385503331 rs1595185625 |
202 | D>N | No |
ClinGen Ensembl |
|
|
rs796106620 CA237820021 |
203 | L>I | No |
ClinGen Ensembl |
|
|
CA237820022 rs796106620 |
203 | L>V | No |
ClinGen Ensembl |
|
|
rs758269345 CA6660426 |
205 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA237820011 rs796989809 |
205 | R>H | No |
ClinGen gnomAD |
|
|
CA385503152 rs1218267542 |
209 | D>N | No |
ClinGen gnomAD |
|
|
CA385502946 rs1218523648 |
215 | I>V | No |
ClinGen gnomAD |
|
|
rs868709875 CA385502819 |
219 | S>* | No |
ClinGen gnomAD |
|
|
rs868709875 CA237819981 |
219 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 219 | S>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6660421 rs763692586 |
221 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385502766 rs1401716612 |
222 | S>A | No |
ClinGen TOPMed |
|
|
rs12822897 CA385502717 |
223 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 223 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs77410204 CA385502697 |
224 | I>L | No |
ClinGen Ensembl |
|
|
rs77410204 CA237819975 |
224 | I>V | No |
ClinGen Ensembl |
|
|
rs774936151 CA6660419 |
225 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477521980 CA385502611 |
226 | H>Y | No |
ClinGen gnomAD |
|
|
CA237819962 rs796175724 |
227 | P>T | No |
ClinGen Ensembl |
|
|
CA237819959 rs932834632 |
228 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6660390 rs780330143 |
231 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 235 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745830190 CA6660388 |
235 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA385502102 rs1446623816 |
237 | F>L | No |
ClinGen gnomAD |
|
|
CA385502099 rs1430900253 |
238 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 239 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6660386 rs757131070 |
239 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 240 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1595185266 CA385502051 |
240 | M>I | No |
ClinGen Ensembl |
|
|
rs753366533 CA6660385 |
240 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385502040 rs1595185264 |
241 | A>P | No |
ClinGen Ensembl |
|
|
rs755782534 CA6660383 |
246 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA385501959 rs1595185247 |
247 | N>H | No |
ClinGen Ensembl |
|
|
rs370807961 CA385501908 |
250 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs370807961 CA237819783 |
250 | P>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA237819775 rs375864907 |
251 | I>T | No |
ClinGen ESP TOPMed |
|
|
CA6660381 rs199880488 |
251 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200753070 CA385501866 |
254 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763413608 CA6660380 |
254 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA237819770 rs796243823 |
255 | L>M | No |
ClinGen Ensembl |
|
|
CA6660378 rs765514458 |
256 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385501853 CA6660376 rs181892334 |
257 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385501843 rs1316086382 |
258 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 259 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1277304878 CA385501841 |
259 | E>Q | No |
ClinGen TOPMed |
|
|
rs797007497 CA237819765 |
260 | D>G | No |
ClinGen Ensembl |
|
|
rs797007497 CA237819761 |
260 | D>V | No |
ClinGen Ensembl |
|
|
CA385501818 rs1050127790 |
261 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA237819752 rs1050127790 |
261 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1050127790 CA385501820 |
261 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1595185156 CA385501798 |
262 | Y>C | No |
ClinGen Ensembl |
|
|
CA385501787 rs1595185145 |
263 | T>P | No |
ClinGen Ensembl |
|
|
CA6660373 rs775671388 |
263 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6660372 rs772302721 |
264 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA385501750 rs1270679448 |
265 | L>V | No |
ClinGen TOPMed |
|
|
CA385501733 rs1301400288 |
266 | G>E | No |
ClinGen gnomAD |
|
|
rs1490408042 CA385501735 |
266 | G>W | No |
ClinGen TOPMed |
|
|
rs796238448 CA237819738 |
268 | L>Q | No |
ClinGen Ensembl |
|
|
rs1184178569 CA385501676 |
269 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1184178569 CA385501679 |
269 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs745742336 CA6660371 |
269 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1595185102 CA385501656 |
270 | A>G | No |
ClinGen Ensembl |
|
|
rs779001515 CA6660370 |
272 | P>Y | No |
ClinGen ExAC gnomAD |
No associated diseases with O14595
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.3.16 | Phosphoric monoester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| metal ion binding | Binding to a metal ion. |
| myosin phosphatase activity | Catalysis of the reaction: phosphomyosin + H2O = myosin + phosphate. |
| phosphoprotein phosphatase activity | Catalysis of the reaction: a phosphoprotein + H2O = a protein + phosphate. Together with protein kinases, these enzymes control the state of phosphorylation of cellular proteins and thereby provide an important mechanism for regulating cellular activity. |
| RNA polymerase II CTD heptapeptide repeat phosphatase activity | Catalysis of the reaction: phospho-(DNA-directed RNA polymerase II) + H2O = (DNA-directed RNA polymerase II) + phosphate. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of G1/S transition of mitotic cell cycle | Any signalling pathway that decreases or inhibits the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the mitotic cell cycle. |
| negative regulation of protein phosphorylation | Any process that stops, prevents or reduces the rate of addition of phosphate groups to amino acids within a protein. |
| protein dephosphorylation | The process of removing one or more phosphoric residues from a protein. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9PTJ6 | NFI1 | CTD small phosphatase-like protein | Gallus gallus (Chicken) | PR |
| P58465 | Ctdspl | CTD small phosphatase-like protein | Mus musculus (Mouse) | PR |
| Q8BX07 | Ctdsp2 | Carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEHGSIITQA | RREDALVLTK | QGLVSKSSPK | KPRGRNIFKA | LFCCFRAQHV | GQSSSSTELA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AYKEEANTIA | KSDLLQCLQY | QFYQIPGTCL | LPEVTEEDQG | RICVVIDLDE | TLVHSSFKPI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NNADFIVPIE | IEGTTHQVYV | LKRPYVDEFL | RRMGELFECV | LFTASLAKYA | DPVTDLLDRC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GVFRARLFRE | SCVFHQGCYV | KDLSRLGRDL | RKTLILDNSP | ASYIFHPENA | VPVQSWFDDM |
| 250 | 260 | 270 | |||
| ADTELLNLIP | IFEELSGAED | VYTSLGQLRA | P |