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

1 structures for Q96NT0

Entry ID Method Resolution Chain Position Source
AF-Q96NT0-F1 Predicted AlphaFoldDB

182 variants for Q96NT0

Variant ID(s) Position Change Description Diseaes Association Provenance
VAR_075752
RCV000210765
RCV000208588
CA352168
rs869025583
11 D>Y CCDC115-CDG Congenital disorders of glycosylation type II CDG2O [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
TOPMed
dbSNP
RCV000208585
RCV001570443
RCV000210795
CA351426
VAR_075753
rs751325113
31 L>S CCDC115-CDG Congenital disorders of glycosylation type II CDG2O [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
ExAC
TOPMed
dbSNP
gnomAD
rs752919660
RCV000514149
1 M>V No ClinVar
dbSNP
rs767209846
CA1871407
2 A>E No ClinGen
ExAC
gnomAD
rs1247164424
CA348488155
3 A>T No ClinGen
gnomAD
CA55520823
rs966809969
4 L>F No ClinGen
TOPMed
gnomAD
CA1871405
rs759432544
4 L>P No ClinGen
ExAC
gnomAD
CA348488113
rs766377161
5 D>A No ClinGen
ExAC
gnomAD
rs751429407
CA1871404
5 D>H No ClinGen
ExAC
gnomAD
CA1871403
rs766377161
5 D>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA348488102
rs763011464
6 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA1871401
rs374624586
7 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA348488082
COSM336164
rs1384694356
7 R>L lung [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA348488083
rs1384694356
COSM397162
7 R>P lung [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA348488073
rs1427199474
8 A>G No ClinGen
TOPMed
CA348488061
rs769438903
9 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA1871400
rs769438903
9 E>V No ClinGen
ExAC
TOPMed
gnomAD
CA348488034
rs869025583
11 D>H No ClinGen
TOPMed
CA1871398
rs776405320
12 S>L No ClinGen
ExAC
gnomAD
CA348487977
rs1478332727
16 Q>* No ClinGen
gnomAD
rs746287541
CA1871396
16 Q>H No ClinGen
ExAC
gnomAD
CA55520765
rs976330400
16 Q>R No ClinGen
Ensembl
rs201206111
CA1871394
19 G>E No ClinGen
ExAC
gnomAD
CA1871391
rs756251999
24 L>P No ClinGen
ExAC
gnomAD
rs1404268290
CA348487823
25 E>K No ClinGen
TOPMed
CA348487786
rs1271656812
26 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs748303723
CA1871390
27 K>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 27 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1871389
rs781526342
28 R>* No ClinGen
ExAC
gnomAD
CA348487743
rs1573828602
29 T>K No ClinGen
Ensembl
rs150332171
CA1871387
31 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA348487681
rs1466551163
33 A>P No ClinGen
gnomAD
CA1871385
rs750387342
35 V>M No ClinGen
ExAC
gnomAD
CA1871383
rs761461065
36 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs764828737
CA1871384
36 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs757177047
CA1871366
38 G>D No ClinGen
ExAC
gnomAD
rs757177047
CA348487553
38 G>V No ClinGen
ExAC
gnomAD
CA348487536
rs1441684745
39 W>C No ClinGen
gnomAD
TCGA novel 39 W>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753340310
CA1871365
40 L>F No ClinGen
ExAC
gnomAD
CA348487508
rs1288188319
42 L>F No ClinGen
TOPMed
rs775073648
CA1871362
43 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs775073648
CA348487497
43 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs775073648
CA1871363
43 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1279004969
CA348487473
44 K>N No ClinGen
gnomAD
rs766713863
CA1871361
45 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1871358
rs151154806
46 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs151154806
CA1871359
46 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs748620732
CA348487449
46 R>L No ClinGen
ExAC
gnomAD
CA1871357
rs748620732
46 R>P No ClinGen
ExAC
gnomAD
CA1871360
rs151154806
46 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs776711440
CA1871356
47 Y>N No ClinGen
ExAC
gnomAD
CA348487405
rs1341606858
49 M>I No ClinGen
gnomAD
rs576449724
CA1871354
49 M>K No ClinGen
ExAC
TOPMed
gnomAD
rs1281955724
CA348487414
49 M>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs780475360
CA1871353
50 G>C No ClinGen
ExAC
gnomAD
rs771965486
CA1871352
51 A>T No ClinGen
ExAC
gnomAD
CA348487346
rs1159526997
53 S>L No ClinGen
gnomAD
rs1266096197
CA348487326
55 G>E No ClinGen
TOPMed
CA348487332
rs1218167117
55 G>R No ClinGen
TOPMed
rs914098043
CA55520479
56 P>H No ClinGen
gnomAD
rs914098043
CA55520478
56 P>L No ClinGen
gnomAD
rs914098043
CA348487315
56 P>R No ClinGen
gnomAD
rs1179518664
CA348487317
56 P>S No ClinGen
TOPMed
gnomAD
rs1179518664
CA348487319
56 P>T No ClinGen
TOPMed
gnomAD
CA348487285
rs1487215977
59 Y>H No ClinGen
gnomAD
rs1158374036
CA348487265
60 A>T No ClinGen
TOPMed
CA1871346
rs755635296
60 A>V No ClinGen
ExAC
gnomAD
rs865959683
CA55520449
61 S>C No ClinGen
TOPMed
CA55520425
rs865959683
61 S>F No ClinGen
TOPMed
CA348487219
rs1287058157
63 M>L No ClinGen
gnomAD
rs1227246917
CA348487206
63 M>R No ClinGen
gnomAD
CA348487197
rs750733183
64 E>* No ClinGen
ExAC
gnomAD
rs750733183
CA1871342
64 E>K No ClinGen
ExAC
gnomAD
CA1871343
rs750733183
64 E>Q No ClinGen
ExAC
gnomAD
CA55520410
rs910788027
65 P>T No ClinGen
TOPMed
rs1295713813
CA348487151
67 V>I No ClinGen
gnomAD
CA55520405
rs985824030
69 L>F No ClinGen
Ensembl
rs375016127
CA1871341
71 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs556226856
CA348487070
72 S>G No ClinGen
1000Genomes
gnomAD
CA55520398
rs556226856
72 S>R No ClinGen
1000Genomes
gnomAD
CA1871303
rs756622601
73 E>* No ClinGen
ExAC
gnomAD
rs756622601
CA1871302
73 E>Q No ClinGen
ExAC
gnomAD
rs753324332
CA1871301
75 Q>* No ClinGen
ExAC
gnomAD
CA55520103
rs900139948
76 E>K No ClinGen
TOPMed
gnomAD
rs767693253
CA1871299
77 G>* No ClinGen
ExAC
gnomAD
rs767693253
CA348486888
77 G>R No ClinGen
ExAC
gnomAD
rs1463302180
CA348486868
78 L>V No ClinGen
TOPMed
gnomAD
rs1175115970
CA348486828
80 K>M No ClinGen
gnomAD
CA348486790
rs1558824052
82 K>E No ClinGen
Ensembl
CA348486783
rs1458922873
82 K>R No ClinGen
TOPMed
CA348486732
rs1176223874
85 R>K No ClinGen
gnomAD
CA348486708
rs1438596735
86 A>S No ClinGen
gnomAD
CA348486656
rs1251835017
90 A>T No ClinGen
gnomAD
rs766470497
CA1871295
93 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs369013898
CA55520014
94 V>M No ClinGen
ESP
CA348486530
rs1183700794
96 P>L No ClinGen
TOPMed
TCGA novel 98 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 98 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1350318989
CA348486470
100 G>R No ClinGen
gnomAD
CA1871280
rs756608136
101 L>V No ClinGen
ExAC
gnomAD
rs537888072
CA1871278
102 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1871277
rs537888072
102 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs149024810
CA1871279
102 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1871275
rs201563607
104 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1290112347
CA348486328
104 R>H No ClinGen
TOPMed
gnomAD
rs764934750
CA55519508
105 K>T No ClinGen
Ensembl
CA348486276
rs1477919871
106 G>D No ClinGen
TOPMed
CA1871274
rs369536260
106 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1871272
rs773550144
107 P>H No ClinGen
ExAC
gnomAD
rs146642670
CA55519482
108 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs146642670
CA1871271
108 T>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA348486214
rs1426913550
109 K>N No ClinGen
TOPMed
rs1193406868
CA348486217
109 K>R No ClinGen
gnomAD
rs1366861462
CA348486205
110 T>N No ClinGen
TOPMed
gnomAD
rs761643164
CA348486195
111 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs761643164
CA1871270
111 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1208119028
CA348486159
113 P>A No ClinGen
gnomAD
rs199817813
CA1871269
113 P>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 117 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771683316
CA1871266
121 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA1871264
rs368444053
122 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs368444053
CA348485922
122 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs770254912
CA1871262
125 W>* No ClinGen
ExAC
gnomAD
CA348485821
rs1191278801
128 I>F No ClinGen
TOPMed
gnomAD
rs1234689786
CA348485779
130 V>G No ClinGen
TOPMed
rs776504160
CA55519409
131 P>S No ClinGen
TOPMed
rs752107581
CA1871258
133 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs1558823073
CA348485718
133 S>N No ClinGen
Ensembl
rs1170400086
COSM1006489
CA348485692
135 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs141848427
CA1871257
135 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1871256
rs147226112
136 Q>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1432847228
CA348485632
137 A>V No ClinGen
gnomAD
rs752987968
CA1871254
140 S>R No ClinGen
ExAC
gnomAD
CA348485509
rs771007243
142 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs771007243
CA1871252
142 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs762047473
CA1871253
COSM1006488
142 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA348485497
rs1451493908
143 D>G No ClinGen
TOPMed
rs1284345073 145 L>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1871215
rs574461175
147 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA348484476
rs1418691405
148 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1043988997
CA55518151
149 A>E No ClinGen
TOPMed
CA1871213
rs756325067
149 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs752490144
CA55518147
151 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs556764590
CA55518145
151 I>T No ClinGen
gnomAD
rs752490144
CA1871212
151 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA1871211
rs767228003
154 L>F No ClinGen
ExAC
gnomAD
CA348484334
rs1418314912
155 Q>H No ClinGen
gnomAD
rs1371551675
CA348484342
155 Q>P No ClinGen
TOPMed
CA1871210
rs372325329
157 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765974155
CA1871208
157 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA348484292
rs765974155
157 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA1871209
rs765974155
157 R>P No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 159 D>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348484262
rs1192470250
159 D>H No ClinGen
gnomAD
CA348484206
rs1469301256
160 W>* No ClinGen
gnomAD
CA55518088
rs1028451832
160 W>R No ClinGen
Ensembl
COSM3787851
rs1275658715
CA348484198
161 G>S pancreas [Cosmic] No ClinGen
cosmic curated
gnomAD
CA1871207
rs762600469
161 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA348484181
rs772966334
162 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1871206
rs772966334
162 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs764901188
CA1871205
164 Q>E No ClinGen
ExAC
gnomAD
rs1254184186
CA348484127
165 L>F No ClinGen
TOPMed
CA348484105
rs1465308778
166 R>Q No ClinGen
TOPMed
gnomAD
rs368677023
CA1871204
166 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA55517989
rs934048566
167 G>* No ClinGen
TOPMed
rs1462276996
CA348484068
168 L>F No ClinGen
Ensembl
rs772385622
CA55517974
168 L>H No ClinGen
ExAC
TOPMed
gnomAD
CA1871202
rs772385622
168 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs1573822535
CA348484056
169 Q>E No ClinGen
Ensembl
CA1871199
rs546945492
170 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA1871200
rs546945492
170 E>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 173 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348483939
rs1376832060
174 Q>E No ClinGen
TOPMed
gnomAD
rs375063387
CA1871197
174 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA348483924
rs1170894329
175 L>V No ClinGen
gnomAD
rs1004157116
CA348483885
177 P>A No ClinGen
TOPMed
rs1004157116
CA55517946
177 P>S No ClinGen
TOPMed
rs1004157116
CA348483890
177 P>T No ClinGen
TOPMed
rs1392950988
CA348483858
178 G>E No ClinGen
gnomAD
CA1871195
rs148689294
180 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA1871194
rs140831651
180 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD

1 associated diseases with Q96NT0

[MIM: 616828]: Congenital disorder of glycosylation 2O (CDG2O)

A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2O is characterized by hepatosplenomegaly, liver failure, hypotonia, and psychomotor disability. {ECO:0000269|PubMed:26833332}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2O is characterized by hepatosplenomegaly, liver failure, hypotonia, and psychomotor disability. {ECO:0000269|PubMed:26833332}. Note=The disease is caused by variants affecting the gene represented in this entry.

12 regional properties for Q96NT0

Type Name Position InterPro Accession
domain RNA recognition motif domain 2 - 75 IPR000504-1
domain RNA recognition motif domain 81 - 156 IPR000504-2
domain K Homology domain 194 - 265 IPR004087-1
domain K Homology domain 275 - 348 IPR004087-2
domain K Homology domain 404 - 475 IPR004087-3
domain K Homology domain 486 - 558 IPR004087-4
domain K Homology domain, type 1 198 - 262 IPR004088-1
domain K Homology domain, type 1 280 - 344 IPR004088-2
domain K Homology domain, type 1 409 - 471 IPR004088-3
domain K Homology domain, type 1 490 - 554 IPR004088-4
domain IGF2BP1, RNA recognition motif 1 1 - 77 IPR034837
domain IGF2BP1, RNA recognition motif 2 81 - 156 IPR034842

Functions

Description
EC Number
Subcellular Localization
  • Endosome
  • Lysosome
  • Endoplasmic reticulum-Golgi intermediate compartment
  • Cytoplasmic vesicle, COPI-coated vesicle
  • Endoplasmic reticulum
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

8 GO annotations of cellular component

Name Definition
COPI-coated vesicle A vesicle with a coat formed of the COPI coat complex proteins. COPI-coated vesicles are found associated with Golgi membranes at steady state, are involved in Golgi to endoplasmic reticulum (retrograde) vesicle transport, and possibly also in intra-Golgi transport.
endoplasmic reticulum The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum-Golgi intermediate compartment A complex system of membrane-bounded compartments located between endoplasmic reticulum (ER) and the Golgi complex, with a distinctive membrane protein composition; involved in ER-to-Golgi and Golgi-to-ER transport.
endosome A vacuole to which materials ingested by endocytosis are delivered.
extrinsic component of endoplasmic reticulum membrane The component of the endoplasmic reticulum membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region.
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.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
vacuolar proton-transporting V-type ATPase complex A proton-transporting two-sector ATPase complex found in the vacuolar membrane, where it acts as a proton pump to mediate acidification of the vacuolar lumen.

1 GO annotations of molecular function

Name Definition
unfolded protein binding Binding to an unfolded protein.

5 GO annotations of biological process

Name Definition
cellular iron ion homeostasis Any process involved in the maintenance of an internal steady state of iron ions at the level of a cell.
cellular response to increased oxygen levels Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting an increase in the level of oxygen.
lysosomal lumen acidification Any process that reduces the pH of the lysosomal lumen, measured by the concentration of the hydrogen ion.
lysosomal protein catabolic process Any cellular protein catabolic process that takes place in a lysosome.
vacuolar proton-transporting V-type ATPase complex assembly The aggregation, arrangement and bonding together of a vacuolar proton-transporting V-type ATPase complex, proton-transporting two-sector ATPase complex that couples ATP hydrolysis to the transport of protons across the vacuolar membrane.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q8VE99 Ccdc115 Coiled-coil domain-containing protein 115 Mus musculus (Mouse) PR
10 20 30 40 50 60
MAALDLRAEL DSLVLQLLGD LEELEGKRTV LNARVEEGWL SLAKARYAMG AKSVGPLQYA
70 80 90 100 110 120
SHMEPQVCLH ASEAQEGLQK FKVVRAGVHA PEEVGPREAG LRRRKGPTKT PEPESSEAPQ
130 140 150 160 170
DPLNWFGILV PHSLRQAQAS FRDGLQLAAD IASLQNRIDW GRSQLRGLQE KLKQLEPGAA