Q9Y2B0
Gene name |
CNPY2 (MSAP, TMEM4, ZSIG9, UNQ1943/PRO4426) |
Protein name |
Protein canopy homolog 2 |
Names |
MIR-interacting saposin-like protein, Putative secreted protein Zsig9, Transmembrane protein 4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10330 |
EC number |
|
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
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
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 |