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 Q9Y2B0

Entry ID Method Resolution Chain Position Source
AF-Q9Y2B0-F1 Predicted AlphaFoldDB

139 variants for Q9Y2B0

Variant ID(s) Position Change Description Diseaes Association Provenance
rs756651654
CA385320292
3 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA6629145
rs756651654
3 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1382221513
CA385320245
5 G>D No ClinGen
TOPMed
rs1389825853
CA385320254
5 G>S No ClinGen
TOPMed
rs1565629073
CA385320214
6 W>C No ClinGen
Ensembl
CA6629142
rs758171309
6 W>R No ClinGen
ExAC
gnomAD
CA6629140
rs752507471
8 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA237662230
rs1003831638
12 G>R No ClinGen
Ensembl
rs776375448
CA6629134
16 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs776375448
CA385319992
16 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1213382824
CA385320012
16 G>R No ClinGen
gnomAD
CA385319980
rs1035096291
17 T>I No ClinGen
TOPMed
CA237662193
rs1035096291
17 T>S No ClinGen
TOPMed
CA385319967
rs1289892001
18 A>V No ClinGen
TOPMed
gnomAD
CA385319927
rs1269854179
19 W>S No ClinGen
TOPMed
CA6629133
rs769127255
21 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA6629132
rs760669679
23 S>C No ClinGen
ExAC
gnomAD
rs982573219
CA237662183
27 H>L No ClinGen
TOPMed
CA385319664
rs1199461839
30 A>P No ClinGen
TOPMed
rs1418889918
CA385319592
31 C>Y No ClinGen
TOPMed
rs752350174
CA6629118
32 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1383211207
CA385319544
33 A>V No ClinGen
gnomAD
CA6629117
rs764996007
36 D>A No ClinGen
ExAC
TOPMed
gnomAD
CA6629116
rs754753878
37 E>V No ClinGen
ExAC
gnomAD
CA385319456
rs199831088
38 L>V No ClinGen
1000Genomes
ExAC
gnomAD
CA6629114
rs766217104
39 E>V No ClinGen
ExAC
gnomAD
rs574865113
CA6629113
40 W>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs574865113
CA6629112
40 W>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA385319313
rs1357920143
41 E>D No ClinGen
gnomAD
rs372058833
CA6629111
42 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs527652986
CA237662062
43 A>G No ClinGen
Ensembl
rs11551983
CA237662059
44 Q>E No ClinGen
Ensembl
CA385319285
rs1247193114
44 Q>L No ClinGen
gnomAD
rs79111613
CA6629110
45 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385319141
rs776150200
49 K>N No ClinGen
TOPMed
CA385319153
rs774485842
49 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA6629109
rs774485842
49 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs1393328321
CA385319105
51 I>T No ClinGen
gnomAD
CA6629108
rs768928573
53 M>V No ClinGen
ExAC
gnomAD
rs1302610360
CA385319002
54 G>E No ClinGen
gnomAD
TCGA novel 55 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763289877
TCGA novel
CA6629107
56 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
ExAC
gnomAD
rs1363640423
CA385318855
61 D>E No ClinGen
gnomAD
rs1425104022
CA385318847
62 G>A No ClinGen
gnomAD
CA385318851
rs1165327609
62 G>S No ClinGen
TOPMed
gnomAD
rs145953285
CA6629076
71 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs867004102
CA237660500
72 A>V No ClinGen
Ensembl
CA385317913
rs1565627860
COSM3359844
73 R>C kidney [Cosmic] No ClinGen
cosmic curated
Ensembl
CA6629075
rs747273921
73 R>H No ClinGen
ExAC
gnomAD
TCGA novel 75 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1371859421
CA385317859
77 H>R No ClinGen
gnomAD
rs904207430
CA237660494
78 L>V No ClinGen
TOPMed
gnomAD
TCGA novel 83 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1202077598
CA385317762
85 I>L No ClinGen
TOPMed
gnomAD
rs1186306496
CA385317751
85 I>M No ClinGen
TOPMed
rs373723874
CA6629071
86 C>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385317748
rs373723874
86 C>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385317729
rs1478469149
87 D>E No ClinGen
TOPMed
CA6629070
rs566322032
87 D>G No ClinGen
1000Genomes
ExAC
gnomAD
rs751607040
CA6629069
88 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1337475818
CA385317703
90 K>E No ClinGen
gnomAD
rs1028399502
CA237660487
91 E>V No ClinGen
TOPMed
CA385317676
rs1592420722
92 Y>D No ClinGen
Ensembl
CA6629065
rs371411859
95 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs554025526
CA237660428
98 P>L No ClinGen
1000Genomes
TOPMed
CA6629064
rs190375156
100 T>A No ClinGen
1000Genomes
ExAC
gnomAD
CA385317554
rs1407851903
101 H>R No ClinGen
gnomAD
rs1450093837
CA385317556
101 H>Y No ClinGen
gnomAD
rs1004060889
CA237660422
102 R>C No ClinGen
TOPMed
gnomAD
rs886916815
COSM941630
CA237660420
102 R>H Variant assessed as Somatic; impact. endometrium breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
TCGA novel 106 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1250964493
CA385317492
106 V>I No ClinGen
gnomAD
rs777195609
CA6629062
107 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA6629061
rs766973735
107 R>H No ClinGen
ExAC
gnomAD
TCGA novel 108 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA385317448
rs1336911997
110 G>S No ClinGen
TOPMed
rs748749230
CA6629057
111 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs768166554
CA6629058
111 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1238292211
CA385317419
112 N>I No ClinGen
gnomAD
TCGA novel 113 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1181312860
CA385317375
116 S>T No ClinGen
gnomAD
CA6629056
rs775199791
117 E>D No ClinGen
ExAC
gnomAD
rs745649885
CA6629054
118 L>P No ClinGen
ExAC
TOPMed
rs769387294
CA6629055
118 L>V No ClinGen
ExAC
gnomAD
CA385317313
rs1248337852
121 Q>R No ClinGen
gnomAD
CA6629052
rs757073100
122 G>V No ClinGen
ExAC
gnomAD
CA6629051
rs201509620
123 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6629050
rs777702972
124 R>* No ClinGen
ExAC
gnomAD
CA385317280
rs141635081
124 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs141635081
CA6629049
124 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA385317263
rs76871886
125 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs765486073
CA6629047
126 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA6629046
rs755207888
127 S>L No ClinGen
ExAC
gnomAD
CA385317219
rs1433154907
129 I>V No ClinGen
TOPMed
rs773784477
CA385317188
131 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs773784477
CA6629042
131 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA385317160
rs1158264150
133 L>P No ClinGen
gnomAD
CA385317148
rs1468783813
134 K>R No ClinGen
gnomAD
CA6629040
rs762509546
136 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs370005370
CA6629019
140 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs776200395
CA6629018
144 Y>N No ClinGen
ExAC
gnomAD
rs1228593768
CA385316970
145 E>K No ClinGen
gnomAD
rs1322283488
CA385316943
146 D>E No ClinGen
gnomAD
CA385316938
rs1280795687
147 E>K No ClinGen
gnomAD
rs1467512279
CA385316922
148 L>F No ClinGen
TOPMed
rs1200649398
CA385316916
148 L>P No ClinGen
TOPMed
rs760451480
CA6629016
150 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1363961259
CA385316857
COSM256663
151 F>L large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA385316822
rs1270065364
153 S>F No ClinGen
gnomAD
CA237660236
rs1003924927
154 R>* No ClinGen
TOPMed
gnomAD
CA6629014
rs199561924
COSM310188
154 R>Q lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
CA385316773
rs1347278521
155 E>G No ClinGen
gnomAD
rs149635541
CA6629013
156 A>V No ClinGen
ESP
ExAC
gnomAD
CA385316754
rs1476043238
157 D>H No ClinGen
TOPMed
rs1404088144
CA385316729
158 N>D No ClinGen
gnomAD
rs186850220
CA6629012
158 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs369707938
CA6629011
159 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1425815449
CA385316704
159 V>I No ClinGen
gnomAD
rs1249642768
CA385316594
163 L>F No ClinGen
TOPMed
gnomAD
CA6629009
rs376827171
167 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385316482
rs1260785506
168 T>R No ClinGen
gnomAD
TCGA novel 169 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1233851460
CA385316362
170 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs113524609
CA237660012
172 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs113524609
CA6628993
172 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs1344943173
CA385316264
174 A>D No ClinGen
gnomAD
rs756386633
CA6628992
174 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA6628991
rs771717574
175 L>P No ClinGen
ExAC
gnomAD
TCGA novel 176 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6628990
rs567326995
177 I>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA385316202
rs1315159407
177 I>M No ClinGen
gnomAD
CA385316209
rs1357691703
177 I>T No ClinGen
gnomAD
rs567326995
CA237659996
177 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA237659995
rs904559266
178 S>L No ClinGen
TOPMed
gnomAD
rs774093448
CA6628989
178 S>P No ClinGen
ExAC
gnomAD
rs775749400
CA6628986
180 D>G No ClinGen
ExAC
gnomAD
CA6628987
rs144428833
180 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA385316110
rs770022738
181 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA237659975
rs1026841310
181 E>K No ClinGen
TOPMed
gnomAD

No associated diseases with Q9Y2B0

2 regional properties for Q9Y2B0

Type Name Position InterPro Accession
domain Saposin B type domain 24 - 175 IPR008139
domain Domain of unknown function DUF3456 27 - 171 IPR021852

Functions

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

1 GO annotations of cellular component

Name Definition
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).

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

3 GO annotations of biological process

Name Definition
negative regulation of gene expression Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of low-density lipoprotein receptor activity Any process that activates or increases the frequency, rate or extent of low-density lipoprotein receptor activity.
regulation of low-density lipoprotein particle clearance Any process that modulates the rate, frequency or extent of low-density lipoprotein particle clearance. Low-density lipoprotein particle clearance is the process in which a low-density lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q2L6L1 cnpy1 Protein canopy-1 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MKGWGWLALL LGALLGTAWA RRSQDLHCGA CRALVDELEW EIAQVDPKKT IQMGSFRINP
70 80 90 100 110 120
DGSQSVVEVP YARSEAHLTE LLEEICDRMK EYGEQIDPST HRKNYVRVVG RNGESSELDL
130 140 150 160 170 180
QGIRIDSDIS GTLKFACESI VEEYEDELIE FFSREADNVK DKLCSKRTDL CDHALHISHD
EL