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 O00584

Entry ID Method Resolution Chain Position Source
3T0O X-ray 159 A A 25-256 PDB
AF-O00584-F1 Predicted AlphaFoldDB

257 variants for O00584

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV000377846
rs886061241
1 M>missing Cystic leukoencephalopathy without megalencephaly [ClinVar] Yes ClinVar
dbSNP
RCV001095751
CA151911997
rs911168436
CA366408504
8 G>R Cystic leukoencephalopathy without megalencephaly [ClinVar] Yes ClinGen
TOPMed
gnomAD
ClinVar
dbSNP
rs1583242286
RCV000000444
17 A>missing Cystic leukoencephalopathy without megalencephaly [ClinVar] Yes ClinVar
dbSNP
RCV001196499
rs372273901
CA4095183
RCV001876274
44 P>L Cystic leukoencephalopathy without megalencephaly [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001154608
CA4095108
RCV000960534
rs115956642
72 S>G Cystic leukoencephalopathy without megalencephaly [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000315978
CA10623422
rs886061240
75 C>Y Cystic leukoencephalopathy without megalencephaly [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
rs1434250650
RCV001254880
78 S>* Cystic leukoencephalopathy without megalencephaly [ClinVar] Yes ClinVar
dbSNP
CA4095054
RCV000277212
rs780445402
109 R>S Cystic leukoencephalopathy without megalencephaly [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000331283
CA4095016
COSM207725
rs117003826
127 A>V large_intestine Cystic leukoencephalopathy without megalencephaly [Cosmic, ClinVar] Yes ClinGen
cosmic curated
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA114257
VAR_063596
rs121918137
RCV000000440
184 C>R Cystic leukoencephalopathy without megalencephaly LCWM; the loss of a disulfide bond may affect protein folding and stability; the protein is retained in the endoplasmic reticulum and the mitochondria while lysosomal localization is disrupted [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV001151596
rs759190975
CA4094867
188 S>I Cystic leukoencephalopathy without megalencephaly [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001344128
rs137968522
RCV002547003
CA4094836
204 T>A Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000439457
RCV000309087
CA4094831
rs41269593
215 E>K Cystic leukoencephalopathy without megalencephaly [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA4094825
RCV000362169
rs202105909
218 E>K Cystic leukoencephalopathy without megalencephaly [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSM1582968
CA4094806
RCV000888819
RCV001157007
rs146590748
236 R>Q Cystic leukoencephalopathy without megalencephaly meninges [ClinVar, Cosmic] Yes ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000305139
rs11159
RCV001515723
VAR_013004
CA4094807
236 R>W Cystic leukoencephalopathy without megalencephaly [ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs763295910
RCV000501289
238 L>missing Cystic leukoencephalopathy without megalencephaly [ClinVar] Yes ClinVar
dbSNP
CA4094803
rs140357917
RCV000400857
RCV000892106
247 F>L Cystic leukoencephalopathy without megalencephaly [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs759625896
RCV001004878
CA4094800
250 P>S Cystic leukoencephalopathy without megalencephaly [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1175946131
CA366408537
2 R>G No ClinGen
TOPMed
gnomAD
rs1175946131
CA366408536
2 R>S No ClinGen
TOPMed
gnomAD
CA366408527
rs1481833205
3 P>L No ClinGen
gnomAD
CA4095208
rs748455635
3 P>S No ClinGen
ExAC
rs1233809644
CA366408526
4 A>T No ClinGen
gnomAD
rs1460580760
CA366408518
5 A>D No ClinGen
gnomAD
rs778738197
CA366408519
5 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs778738197
CA4095207
5 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs1224852048
CA366408512
6 L>P No ClinGen
gnomAD
rs1396968925
CA366408499
9 A>T No ClinGen
TOPMed
CA366408496
rs1309064255
9 A>V No ClinGen
TOPMed
CA366408485
rs1330045184
11 L>P No ClinGen
Ensembl
CA366408476
rs1452254618
13 C>R No ClinGen
gnomAD
rs1404148222
CA366408467
14 L>F No ClinGen
gnomAD
CA366408460
rs1466640652
15 C>Y No ClinGen
gnomAD
rs1157636131
CA366408451
16 L>R No ClinGen
gnomAD
rs1381369582
CA366408447
17 A>V No ClinGen
gnomAD
CA366408433
rs1183333234
19 L>P No ClinGen
gnomAD
TCGA novel 19 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1311705015
CA366408427
20 C>S No ClinGen
TOPMed
CA151911979
rs62436422
21 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs62436422
CA366408423
21 L>V No ClinGen
gnomAD
CA366408417
rs1240909002
22 G>C No ClinGen
gnomAD
rs767378195
CA4095201
23 G>A No ClinGen
ExAC
gnomAD
rs767378195
CA366408410
23 G>D No ClinGen
ExAC
gnomAD
CA366408408
rs1483293081
24 A>T No ClinGen
gnomAD
rs761630857
CA4095200
24 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1484231577
CA366408397
25 D>E No ClinGen
TOPMed
rs1318633889
CA366408391
26 K>R No ClinGen
gnomAD
CA366408384
rs1219282301
27 R>H No ClinGen
Ensembl
CA366408386
rs1183952977
27 R>S No ClinGen
TOPMed
rs371907141
CA4095196
28 L>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs903854377
CA151911921
29 R>C No ClinGen
TOPMed
gnomAD
rs768898749
CA366408345
31 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs779460565
CA4095188
31 N>S No ClinGen
ExAC
gnomAD
CA4095185
rs375297629
32 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs542520182
CA4095186
32 H>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA151908216
TCGA novel
rs928399690
34 W>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
Ensembl
rs1268218510 36 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 37 L>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4095184
rs755657092
39 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs1164177909
CA366408291
39 M>L No ClinGen
gnomAD
rs1372179117
CA366408282
40 V>A No ClinGen
gnomAD
CA151908187
rs867764276
43 W>L No ClinGen
Ensembl
TCGA novel 45 E>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774446299
CA151908170
46 T>A No ClinGen
Ensembl
CA366408232
rs1478525897
47 V>G No ClinGen
gnomAD
rs1467494028
CA366408237
47 V>I No ClinGen
TOPMed
gnomAD
rs1467494028
CA366408235
47 V>L No ClinGen
TOPMed
gnomAD
CA366408231
rs919595149
48 C>G No ClinGen
TOPMed
gnomAD
CA151908164
rs919595149
48 C>R No ClinGen
TOPMed
gnomAD
CA366408230
rs919595149
48 C>S No ClinGen
TOPMed
gnomAD
rs781133215
CA366408225
48 C>W No ClinGen
ExAC
TOPMed
gnomAD
rs757238716
CA4095181
COSM1642948
49 E>K stomach [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs750669368
CA4095156
52 Q>* No ClinGen
ExAC
gnomAD
rs761924699
CA366408070
54 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA4095154
rs761924699
54 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1258289810
CA366408014
58 P>L No ClinGen
TOPMed
rs1424507603
CA366408010
59 P>A No ClinGen
TOPMed
rs561514741
CA4095153
59 P>L No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 62 W>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs993184078
CA151904151
63 T>K No ClinGen
TOPMed
gnomAD
rs993184078
CA366407959
63 T>R No ClinGen
TOPMed
gnomAD
rs763394312
CA4095151
65 H>R No ClinGen
ExAC
gnomAD
rs1242789738
CA366407929
COSM3410784
68 W>* central_nervous_system [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1278713421
CA366407906
69 P>L No ClinGen
gnomAD
CA4095109
rs754155291
70 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs760285467
CA4095106
74 G>E No ClinGen
ExAC
gnomAD
rs760285467
CA151902266
74 G>V No ClinGen
ExAC
gnomAD
rs1253547373
CA366407864
76 N>D No ClinGen
TOPMed
rs1178939961
CA366407861
76 N>S No ClinGen
gnomAD
TCGA novel 77 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1434250650
CA366407844
78 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs771496431
CA4095104
79 W>L No ClinGen
ExAC
gnomAD
CA366407817
rs1441873284
82 N>S No ClinGen
TOPMed
gnomAD
CA4095103
rs761320310
83 L>* No ClinGen
ExAC
CA366407812
rs1239628395
83 L>I No ClinGen
TOPMed
gnomAD
rs1239628395
CA366407813
83 L>V No ClinGen
TOPMed
gnomAD
rs1198825632
CA366407807
84 E>K No ClinGen
gnomAD
TCGA novel 85 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4095100
rs749214203
85 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA4095101
rs768664056
85 E>K No ClinGen
ExAC
gnomAD
rs768664056
CA4095102
85 E>Q No ClinGen
ExAC
gnomAD
CA4095099
rs780031338
86 I>V No ClinGen
ExAC
gnomAD
rs769621975
CA4095098
87 K>* No ClinGen
ExAC
gnomAD
CA366407788
rs769621975
87 K>E No ClinGen
ExAC
gnomAD
CA366407094
rs1387040789
88 D>Y No ClinGen
gnomAD
TCGA novel 89 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751250162
CA4095065
92 E>G No ClinGen
ExAC
gnomAD
rs987564260
CA151898075
93 M>T No ClinGen
TOPMed
TCGA novel 94 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1249286606
CA366407044
95 A>V No ClinGen
TOPMed
CA366407038
rs1280410103
96 Y>C No ClinGen
gnomAD
CA4095064
rs763751033
96 Y>H No ClinGen
ExAC
gnomAD
CA4095062
rs367656044
97 W>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4095063
rs762498853
97 W>R No ClinGen
ExAC
gnomAD
CA4095061
rs772187999
99 D>E No ClinGen
ExAC
gnomAD
CA4095059
rs529169150
100 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201959434
CA4095058
103 S>L No ClinGen
1000Genomes
ExAC
gnomAD
CA366406973
rs1326095554
106 N>H No ClinGen
TOPMed
gnomAD
rs993877408
CA366406971
106 N>I No ClinGen
TOPMed
gnomAD
CA151898039
rs993877408
106 N>S No ClinGen
TOPMed
gnomAD
CA4095056
rs774543357
107 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4095055
rs149426644
107 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA366406962
rs1199281718
108 S>C No ClinGen
gnomAD
CA4095053
rs780445402
109 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA4095052
rs374162593
109 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs931339513
CA151894654
111 W>* No ClinGen
TOPMed
CA366406912
rs1362425214
113 H>P No ClinGen
TOPMed
CA366406900
rs1421687402
115 W>R No ClinGen
TOPMed
CA4095026
rs754432508
116 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA4095024
rs763195467
118 H>P No ClinGen
ExAC
TOPMed
gnomAD
rs1285213280
CA366406866
119 G>R No ClinGen
gnomAD
CA4095020
rs763299296
122 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs769927092
CA4095018
123 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA366406770
rs1562497492
126 D>G No ClinGen
Ensembl
CA151894596
rs117003826
127 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA366406729
COSM1672970
rs1286334837
129 N>K haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
TOPMed
rs1299915529
CA366406719
130 S>Y No ClinGen
gnomAD
rs781239107 133 K>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs778325234
CA4095013
133 K>T No ClinGen
ExAC
gnomAD
TCGA novel 134 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA366406279
rs1418731772
135 F>C No ClinGen
gnomAD
CA4095010
rs747895403
137 R>G No ClinGen
ExAC
gnomAD
rs1476861062
CA366406255
137 R>K No ClinGen
gnomAD
CA151894537
rs1031105313
138 S>N No ClinGen
Ensembl
rs1208036022
CA366406234
139 L>P No ClinGen
TOPMed
CA366406237
rs1426418231
139 L>V No ClinGen
gnomAD
CA4095009
rs778373009
140 E>K No ClinGen
ExAC
gnomAD
rs200217470
CA4095008
141 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs779517174
CA4095006
141 L>R No ClinGen
ExAC
gnomAD
rs200217470
CA4095007
141 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs756083307
CA4095005
142 Y>H No ClinGen
ExAC
gnomAD
CA151894514
rs977121991
145 L>R No ClinGen
TOPMed
rs968384342
CA151894507
146 D>Y No ClinGen
TOPMed
gnomAD
TCGA novel 147 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200521055
CA151894500
149 S>I No ClinGen
1000Genomes
CA4094904
rs771231451
150 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs771231451
CA4094903
150 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1281450125
CA366409787
151 L>F No ClinGen
gnomAD
CA4094901
rs564700188
152 L>P No ClinGen
1000Genomes
ExAC
gnomAD
CA366409778
rs564700188
152 L>R No ClinGen
1000Genomes
ExAC
gnomAD
CA366409752
rs1240582231
156 I>R No ClinGen
gnomAD
rs758461719
CA4094900
158 P>A No ClinGen
ExAC
gnomAD
rs1394189622
CA366409731
159 S>F No ClinGen
gnomAD
rs199674368
CA366409719
161 N>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs199674368
COSM3697668
CA4094897
161 N>S large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA366409702
rs1190588643
163 Y>* No ClinGen
TOPMed
rs1418823672
CA366409700
164 Q>K No ClinGen
gnomAD
CA366409524
rs1244167002
165 V>F No ClinGen
TOPMed
gnomAD
rs1244167002
CA366409527
165 V>I No ClinGen
TOPMed
gnomAD
CA366409500
rs1233095538
167 D>E No ClinGen
TOPMed
gnomAD
rs756845295
CA4094874
167 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA151950134
rs867548038
168 F>C No ClinGen
Ensembl
CA366409497
rs1447243603
168 F>L No ClinGen
gnomAD
rs1211284477
CA366409485
169 K>E No ClinGen
gnomAD
rs1298997016
CA366409480
169 K>I No ClinGen
TOPMed
rs1273796776
CA366409470
170 D>G No ClinGen
gnomAD
CA366409474
rs1336225419
170 D>H No ClinGen
TOPMed
gnomAD
TCGA novel 170 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA366409458
rs1217929196
171 A>G No ClinGen
gnomAD
CA366409452
rs1359654764
172 L>F No ClinGen
gnomAD
TCGA novel 172 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs937734336
COSM1075930
CA151950123
173 A>T Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA366409432
rs1330770810
174 R>T No ClinGen
gnomAD
rs1562493291
CA366409420
175 V>A No ClinGen
Ensembl
rs1315470043
CA366409425
175 V>I No ClinGen
TOPMed
CA4094872
rs763663043
177 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1395310183
CA366409391
178 V>A No ClinGen
gnomAD
CA366409395
rs1239284254
178 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA366409375
rs1468475059
180 P>S No ClinGen
TOPMed
CA366409328
rs930821082
184 C>* No ClinGen
gnomAD
CA151950083
rs930821082
184 C>W No ClinGen
gnomAD
rs752566896
CA4094870
185 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs752566896
CA366409326
185 L>I No ClinGen
ExAC
TOPMed
gnomAD
rs1434152025
CA366409304
187 P>R No ClinGen
TOPMed
CA4094868
rs759190975
188 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA366409285
rs1245786090
189 Q>R No ClinGen
gnomAD
rs774496285
CA4094841
193 V>I No ClinGen
ExAC
gnomAD
rs764236556
CA151949056
194 Q>H No ClinGen
ExAC
gnomAD
CA366408940
rs1360372731
196 I>T No ClinGen
TOPMed
CA4094839
rs762901010
197 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA151949046
rs926185419
198 Q>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA366408921
rs1175562744
199 I>T No ClinGen
TOPMed
gnomAD
CA151949039
rs974396478
200 E>D No ClinGen
TOPMed
gnomAD
rs776087270
CA4094837
201 L>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 203 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 204 T>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA366408870
rs1583212057
207 D>A No ClinGen
Ensembl
CA4094835
rs746342225
207 D>Y No ClinGen
ExAC
gnomAD
rs373290604
CA151949025
208 Q>R No ClinGen
ESP
TOPMed
CA366408821
rs777199814
214 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA4094834
rs777199814
214 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs41269593
CA4094832
215 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4094829
rs200901770
216 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4094830
rs200901770
216 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4094826
rs753772218
217 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA366408801
rs202105909
218 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4094824
rs755838611
218 E>V No ClinGen
ExAC
gnomAD
CA366408795
rs1354145190
219 Q>E No ClinGen
gnomAD
CA366408783
rs751838276
220 P>L No ClinGen
ExAC
gnomAD
CA4094823
rs751838276
220 P>Q No ClinGen
ExAC
gnomAD
rs35716361
CA4094821
221 S>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA366408781
rs1583211964
221 S>P No ClinGen
Ensembl
CA4094820
rs35716361
RCV000884362
221 S>Y No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs765400725
CA4094819
222 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs149106779
CA366408769
223 K>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149106779
CA4094817
223 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149106779
CA366408770
223 K>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4094816
rs145013301
227 W>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA366408736
rs1415604749
228 L>M No ClinGen
TOPMed
gnomAD
TCGA novel 228 L>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1244702124
CA366408719
230 N>K No ClinGen
TOPMed
CA366408710
rs1583211909
232 A>P No ClinGen
Ensembl
CA151948909
rs1047556452
233 A>G No ClinGen
TOPMed
gnomAD
rs149922066
CA4094814
233 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV000956442
rs149922066
CA4094813
233 A>T No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA4094810
rs754474033
234 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs199823417
CA4094809
235 S>R No ClinGen
1000Genomes
ExAC
gnomAD
CA366408682
rs1340354301
237 G>A No ClinGen
gnomAD
CA4094805
rs767307679
237 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA366408675
rs1583211839
239 R>G No ClinGen
Ensembl
CA151948846
rs539299924
242 E>G No ClinGen
Ensembl
TCGA novel 244 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 244 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA366408630
rs1363644149
245 P>L No ClinGen
gnomAD
CA366408616
rs1296660279
247 F>C No ClinGen
TOPMed
CA151948803
rs765446788
248 Y>S No ClinGen
Ensembl
CA366408602
rs1391650191
249 P>L No ClinGen
gnomAD
rs754430788
CA366408599
250 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA4094799
rs754430788
250 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs934916857
CA151948764
251 P>S No ClinGen
gnomAD
rs1430007208
CA366408572
254 T>S No ClinGen
gnomAD
CA4094798
rs766947293
255 K>R No ClinGen
ExAC
gnomAD
rs1455677556
CA366408563
256 H>N No ClinGen
gnomAD
rs773490411
CA4094796
256 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1230977284
CA366408549
257 H>C No ClinGen
TOPMed
rs1230977284
CA366408550
257 H>W No ClinGen
TOPMed

No associated diseases with O00584

6 regional properties for O00584

Type Name Position InterPro Accession
conserved_site ATP-dependent RNA helicase DEAD-box, conserved site 270 - 278 IPR000629
domain Helicase, C-terminal 336 - 498 IPR001650
domain DEAD/DEAH box helicase domain 135 - 313 IPR011545
domain Helicase superfamily 1/2, ATP-binding domain 130 - 340 IPR014001
domain RNA helicase, DEAD-box type, Q motif 111 - 139 IPR014014
domain DDX52/Rok1, DEAD-box helicase domain 122 - 328 IPR044764

Functions

Description
EC Number 4.6.1.19 Phosphorus-oxygen lyases
Subcellular Localization
  • Secreted
  • Lysosome lumen
  • Endoplasmic reticulum lumen
  • Mitochondrion intermembrane space
  • Full-length RNASET2 is found in the endoplasmic reticulum while smaller RNASET2 proteolytic products are found in the lysosome fraction
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

8 GO annotations of cellular component

Name Definition
azurophil granule lumen The volume enclosed by the membrane of an azurophil granule, a primary lysosomal granule found in neutrophil granulocytes that contains a wide range of hydrolytic enzymes and is released into the extracellular fluid.
endoplasmic reticulum lumen The volume enclosed by the membranes of the endoplasmic reticulum.
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
extracellular region The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
extracellular space That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
lysosomal lumen The volume enclosed within the lysosomal membrane.
lysosome A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions.
mitochondrial intermembrane space The region between the inner and outer lipid bilayers of the mitochondrial envelope.

4 GO annotations of molecular function

Name Definition
endoribonuclease activity Catalysis of the hydrolysis of ester linkages within ribonucleic acid by creating internal breaks.
ribonuclease activity Catalysis of the hydrolysis of phosphodiester bonds in chains of RNA.
ribonuclease T2 activity Catalysis of the two-stage endonucleolytic cleavage to nucleoside 3'-phosphates and 3'-phosphooligonucleotides with 2',3'-cyclic phosphate intermediates.
RNA binding Binding to an RNA molecule or a portion thereof.

2 GO annotations of biological process

Name Definition
innate immune response Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
RNA catabolic process The chemical reactions and pathways resulting in the breakdown of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MRPAALRGAL LGCLCLALLC LGGADKRLRD NHEWKKLIMV QHWPETVCEK IQNDCRDPPD
70 80 90 100 110 120
YWTIHGLWPD KSEGCNRSWP FNLEEIKDLL PEMRAYWPDV IHSFPNRSRF WKHEWEKHGT
130 140 150 160 170 180
CAAQVDALNS QKKYFGRSLE LYRELDLNSV LLKLGIKPSI NYYQVADFKD ALARVYGVIP
190 200 210 220 230 240
KIQCLPPSQD EEVQTIGQIE LCLTKQDQQL QNCTEPGEQP SPKQEVWLAN GAAESRGLRV
250
CEDGPVFYPP PKKTKH