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 Q969E2

Entry ID Method Resolution Chain Position Source
AF-Q969E2-F1 Predicted AlphaFoldDB

203 variants for Q969E2

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1298844179
CA403174587
2 S>A No ClinGen
TOPMed
CA304121385
rs548989217
2 S>L No ClinGen
TOPMed
gnomAD
CA403175265
rs1568770643
4 K>N No ClinGen
Ensembl
CA403175282
rs1217877888
7 N>D No ClinGen
TOPMed
rs1599250838
CA403175285
7 N>T No ClinGen
Ensembl
rs977863701
CA304123100
8 F>S No ClinGen
gnomAD
rs763858621
CA9054793
9 P>L Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs548869200
CA9054795
10 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs530017670
CA9054794
10 P>T No ClinGen
1000Genomes
ExAC
gnomAD
CA9054796
rs765307164
12 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs931695419
CA403175323
13 K>N No ClinGen
TOPMed
rs1297632863
CA403175320
13 K>R No ClinGen
gnomAD
TCGA novel 16 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9054799
rs766663344
19 P>R No ClinGen
ExAC
gnomAD
rs1271857120
CA403175389
23 Q>E No ClinGen
TOPMed
gnomAD
rs1050190598
CA304123143
24 N>S No ClinGen
Ensembl
CA9054804
rs765259029
27 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs745345583
CA9054807
31 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs778586587
CA9054806
CA403175446
31 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA9054808
rs771455488
34 Q>H No ClinGen
ExAC
gnomAD
CA403175486
rs1458801524
37 V>E No ClinGen
gnomAD
rs776347897
CA9054812
40 I>V No ClinGen
ExAC
gnomAD
rs772989300
CA9054815
42 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9054814
rs375366278
42 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9054816
rs763139221
43 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA304123196
rs369681119
44 W>S No ClinGen
ESP
CA9054817
rs766351928
45 M>K No ClinGen
ExAC
TOPMed
gnomAD
CA304123201
rs999804913
45 M>V No ClinGen
Ensembl
CA9054818
rs751871104
46 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA403175560
rs1204669712
47 Y>H No ClinGen
gnomAD
CA403175574
rs371988987
48 C>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs45562539
CA9054864
VAR_061783
49 A>T No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA403175582
rs1247158100
50 T>A No ClinGen
TOPMed
gnomAD
rs1247158100
CA403175580
50 T>P No ClinGen
TOPMed
gnomAD
CA304123703
rs11545061
51 L>I No ClinGen
Ensembl
rs780673007
CA9054865
52 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA304123709
rs756927324
52 G>V No ClinGen
Ensembl
CA403175598
rs1394869511
53 V>A No ClinGen
gnomAD
rs367794381
CA9054866
53 V>I No ClinGen
ESP
ExAC
gnomAD
rs367794381
CA403175595
53 V>L No ClinGen
ESP
ExAC
gnomAD
rs1002867593
CA304123710
54 N>S No ClinGen
TOPMed
gnomAD
CA403175608
rs755663940
55 L>F No ClinGen
ExAC
gnomAD
rs755663940
CA9054867
55 L>V No ClinGen
ExAC
gnomAD
rs549848699
CA9054868
56 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9054870
rs748994841
57 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA403175640
rs1035734291
60 A>G No ClinGen
TOPMed
gnomAD
CA403175638
rs1228023782
60 A>S No ClinGen
gnomAD
rs1035734291
CA304123722
60 A>V No ClinGen
TOPMed
gnomAD
CA304123739
rs924241882
61 W>* No ClinGen
Ensembl
CA9054871
rs770726554
62 W>R No ClinGen
ExAC
gnomAD
rs1211349538
CA403175663
63 I>M No ClinGen
gnomAD
CA9054873
rs199600249
64 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
CA9054872
rs779044597
64 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs775644869
CA9054875
65 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA403175675
rs1568771315
66 G>C No ClinGen
Ensembl
CA403175673
rs1568771315
66 G>S No ClinGen
Ensembl
CA304123792
rs918168874
66 G>V No ClinGen
TOPMed
rs747251785
CA9054876
67 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA403175684
rs1192100987
68 G>R No ClinGen
gnomAD
rs1599251674
CA403175689
69 T>A No ClinGen
Ensembl
CA9054879
rs762126623
69 T>I No ClinGen
ExAC
gnomAD
rs1164146885
CA403175694
70 N>H No ClinGen
gnomAD
CA9054880
rs373186759
72 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA403175733
rs752153362
75 F>L No ClinGen
ExAC
gnomAD
rs1381664759
CA403175727
75 F>L No ClinGen
gnomAD
CA403175729
rs1293714133
75 F>S No ClinGen
gnomAD
CA9054886
rs200748376
76 V>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA403175735
rs755820863
CA403175734
76 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs755820863
CA9054885
76 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA403175745
rs1333845145
77 W>C No ClinGen
gnomAD
TCGA novel 77 W>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA403175754
rs1367839065
79 L>F No ClinGen
gnomAD
rs745805661
CA9054891
81 F>L No ClinGen
ExAC
CA9054892
rs373420560
82 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9054893
rs373420560
82 T>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1599251775
CA403175783
84 C>Y No ClinGen
Ensembl
rs1372624687
CA403175790
85 G>D No ClinGen
TOPMed
rs376495954
CA9054895
85 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs748395027
CA403175798
86 Y>* No ClinGen
ExAC
gnomAD
CA9054896
rs776769700
86 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA9054898
rs202002554
87 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs763472911
CA9054900
89 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs763472911
CA403175816
89 W>S No ClinGen
ExAC
TOPMed
gnomAD
CA9054901
rs766830264
91 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA403176260
rs1404419141
91 R>W No ClinGen
TOPMed
gnomAD
rs1312496967
CA403176270
92 P>S No ClinGen
gnomAD
CA304123933
rs968550032
93 V>I No ClinGen
Ensembl
rs763647846
CA9054904
95 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA9054905
rs753503255
95 K>R No ClinGen
ExAC
gnomAD
CA403176317
rs1238211395
96 A>T No ClinGen
gnomAD
TCGA novel 97 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs542238969
CA9054907
98 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs750198903
CA9054908
98 R>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 102 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 108 F>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 119 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201790720 131 A>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs376157594
CA9054975
133 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA403176895
rs1461465903
133 G>V No ClinGen
TOPMed
CA403176906
rs1388213346
134 W>* No ClinGen
TOPMed
rs369144370
CA9054978
136 S>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA403176939
rs1252071956
137 A>G No ClinGen
TOPMed
CA9054980
rs748843955
138 I>T No ClinGen
ExAC
gnomAD
rs1433762075
CA403176945
138 I>V No ClinGen
TOPMed
gnomAD
rs1439180881
CA403176961
139 G>E No ClinGen
TOPMed
CA403176971
rs1399161733
140 F>V No ClinGen
gnomAD
CA403177010
rs1328778995
142 Q>R No ClinGen
TOPMed
gnomAD
CA403177083
rs1339392163
145 P>A No ClinGen
TOPMed
CA9054981
rs377345619
145 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA403177102
rs1304322924
146 G>R No ClinGen
gnomAD
TCGA novel 146 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA403177112
rs1370330657
146 G>V No ClinGen
gnomAD
CA9054984
rs750361804
147 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA403177130
rs1341215866
148 A>T No ClinGen
gnomAD
TCGA novel 148 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9054986
rs77329316
149 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1436056721
CA403177242
155 A>V No ClinGen
gnomAD
CA9054987
rs548969745
156 I>N No ClinGen
1000Genomes
ExAC
gnomAD
CA403177252
rs548969745
156 I>T No ClinGen
1000Genomes
ExAC
gnomAD
rs776519756
CA9054988
157 M>T No ClinGen
ExAC
gnomAD
CA403177264
rs1253160498
157 M>V No ClinGen
gnomAD
rs966252065
CA304133391
159 S>F No ClinGen
Ensembl
rs765222246
CA304133410
160 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs765222246
CA9054990
160 V>M No ClinGen
ExAC
TOPMed
gnomAD
COSM3736192
rs201575102
CA9054991
161 S>L skin [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA403177378
rs1463536946
163 A>V No ClinGen
gnomAD
CA304133439
rs539494798
CA9054995
164 M>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs751930790
CA9054994
164 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs566168878
CA9054993
164 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1226935339
CA403177426
165 M>I No ClinGen
gnomAD
CA9054996
rs781776069
165 M>V No ClinGen
ExAC
gnomAD
rs551729781
CA304133457
166 A>P No ClinGen
1000Genomes
gnomAD
rs551729781
CA304133449
166 A>T No ClinGen
1000Genomes
gnomAD
rs1013786462
CA304133466
166 A>V No ClinGen
TOPMed
gnomAD
TCGA novel 167 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA403177481
rs116369903
168 A>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs374167073
CA9054998
168 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9054999
rs116369903
168 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1341128116
CA403177530
170 M>T No ClinGen
TOPMed
gnomAD
CA304133490
rs937376020
170 M>V No ClinGen
TOPMed
gnomAD
CA9055027
rs748133360
172 V>M No ClinGen
ExAC
gnomAD
CA9055031
rs771117651
173 H>R No ClinGen
ExAC
gnomAD
CA9055030
rs762989468
173 H>Y No ClinGen
ExAC
gnomAD
CA9055032
rs774779763
174 R>G No ClinGen
ExAC
gnomAD
CA9055033
rs759765918
174 R>S No ClinGen
ExAC
gnomAD
rs768006549
CA9055034
175 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA9055035
rs775669069
177 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs201563493
CA304135108
177 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201563493
CA9055036
177 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA403178015
rs1397062609
178 G>R No ClinGen
gnomAD
CA403178026
rs1390724159
179 A>V No ClinGen
gnomAD
rs1479085076
CA403178029
180 G>D No ClinGen
TOPMed
CA9055038
rs754349839
180 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA403178035
rs1310817703
181 G>A No ClinGen
gnomAD
rs1310817703
CA403178034
181 G>E No ClinGen
gnomAD
CA9055040
rs201067147
181 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA403178040
rs1289454951
182 S>N No ClinGen
TOPMed
rs751222117
CA9055041
CA304135125
182 S>R No ClinGen
ExAC
gnomAD
rs754570833
CA9055042
183 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs781068998
CA9055043
184 Q>* No ClinGen
ExAC
gnomAD
rs1255038615
CA403178065
186 A>T No ClinGen
gnomAD
CA9055045
rs535516053
188 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1599259779
CA403178094
190 W>G No ClinGen
Ensembl
rs1431250418
CA403178102
191 N>D No ClinGen
gnomAD
rs200769074
CA9055048
192 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA403178114
rs1461476691
193 G>S No ClinGen
gnomAD
rs746114708
CA9055050
194 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA9055053
rs373669079
196 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9055052
rs772379340
196 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1011296764
CA304135196
197 N>D No ClinGen
Ensembl
rs75734024
CA9055054
199 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs999407056
CA304135220
200 S>L No ClinGen
gnomAD
TCGA novel 202 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762244270
CA9055057
203 A>P No ClinGen
ExAC
rs866240531
CA304135230
203 A>V No ClinGen
Ensembl
rs1398981554
CA403178225
204 Q>* No ClinGen
TOPMed
gnomAD
CA403178255
rs1479469316
206 N>D No ClinGen
TOPMed
rs1420034700
CA403178280
207 N>K No ClinGen
gnomAD
CA9055063
rs754449771
207 N>S No ClinGen
ExAC
gnomAD
rs754449771
CA9055062
207 N>T No ClinGen
ExAC
gnomAD
CA304135257
rs755926017
208 F>C No ClinGen
ExAC
TOPMed
gnomAD
rs752379488
CA9055064
208 F>I No ClinGen
ExAC
gnomAD
rs755926017
CA9055065
208 F>Y No ClinGen
ExAC
TOPMed
gnomAD
CA403178310
rs1461530470
210 G>D No ClinGen
gnomAD
rs1419893262
CA403178304
210 G>S No ClinGen
TOPMed
gnomAD
CA403178343
rs1389626781
213 L>M No ClinGen
TOPMed
gnomAD
TCGA novel 214 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749249246
CA9055067
215 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA9055068
rs757210763
217 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA9055070
rs745985394
218 T>S No ClinGen
ExAC
gnomAD
rs1336169352
CA403178418
219 V>M No ClinGen
gnomAD
CA9055072
rs775634101
220 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA9055071
rs772171627
220 P>S No ClinGen
ExAC
gnomAD
rs1243990187
CA403178430
221 S>T No ClinGen
gnomAD
CA403178441
rs1599259963
222 Y>S No ClinGen
Ensembl
CA9055073
rs747252952
223 P>L No ClinGen
ExAC
gnomAD
rs747252952
CA403178457
223 P>Q No ClinGen
ExAC
gnomAD
rs762334218
CA9055077
224 G>A No ClinGen
ExAC
rs762334218
CA403178468
224 G>V No ClinGen
ExAC
rs572977753
CA9055078
226 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs957316515
CA304135329
227 Q>R No ClinGen
TOPMed
gnomAD
CA403178521
rs1259328485
228 W>* No ClinGen
gnomAD
rs1475520047
CA403178529
229 P>L No ClinGen
gnomAD

No associated diseases with Q969E2

No regional properties for Q969E2

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q969E2

Functions

Description
EC Number
Subcellular Localization
  • Membrane; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
recycling endosome membrane The lipid bilayer surrounding a recycling endosome.
trans-Golgi network membrane The lipid bilayer surrounding any of the compartments that make up the trans-Golgi network.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name Definition
protein transport The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
O15126 SCAMP1 Secretory carrier-associated membrane protein 1 Homo sapiens (Human) PR
Q8K021 Scamp1 Secretory carrier-associated membrane protein 1 Mus musculus (Mouse) PR
Q9LR68 SCAMP2 Secretory carrier-associated membrane protein 2 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MSEKENNFPP LPKFIPVKPC FYQNFSDEIP VEHQVLVKRI YRLWMFYCAT LGVNLIACLA
70 80 90 100 110 120
WWIGGGSGTN FGLAFVWLLL FTPCGYVCWF RPVYKAFRAD SSFNFMAFFF IFGAQFVLTV
130 140 150 160 170 180
IQAIGFSGWG ACGWLSAIGF FQYSPGAAVV MLLPAIMFSV SAAMMAIAIM KVHRIYRGAG
190 200 210 220
GSFQKAQTEW NTGTWRNPPS REAQYNNFSG NSLPEYPTVP SYPGSGQWP