Q96PD7
PR
Gene name |
DGAT2 |
Protein name |
Diacylglycerol O-acyltransferase 2 |
Names |
Acyl-CoA retinol O-fatty-acyltransferase, ARAT, Retinol O-fatty-acyltransferase, Diglyceride acyltransferase 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84649 |
EC number |
2.3.1.20: Transferring groups other than amino-acyl groups |
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 Q96PD7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96PD7-F1 | Predicted | AlphaFoldDB |
320 variants for Q96PD7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA6191874 rs752118283 |
2 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6191875 rs757323849 |
2 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA381892900 rs750555276 |
3 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6191877 rs750555276 |
3 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300061060 CA381892940 |
9 | S>F | No |
ClinGen gnomAD |
|
|
rs1157219241 CA381892947 |
11 | V>I | No |
ClinGen TOPMed |
|
|
CA224702000 rs935210462 |
14 | G>S | No |
ClinGen Ensembl |
|
|
CA381892970 rs1590859844 |
15 | E>Q | No |
ClinGen Ensembl |
|
|
CA6191881 rs373978843 |
15 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1229239865 CA381892984 |
17 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1284182986 CA381892989 |
17 | Q>H | No |
ClinGen gnomAD |
|
|
rs1315589663 CA381892996 |
19 | E>K | No |
ClinGen gnomAD |
|
|
CA6191882 rs146363434 |
21 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381893018 rs1187367152 |
22 | R>W | No |
ClinGen TOPMed |
|
|
rs1488321499 CA381893034 |
24 | Q>R | No |
ClinGen gnomAD |
|
|
CA381893041 rs1235380059 |
25 | R>H | No |
ClinGen gnomAD |
|
|
rs1406140191 CA381893046 |
26 | S>A | No |
ClinGen gnomAD |
|
|
rs369031306 CA6191884 |
26 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746599241 CA224702029 |
27 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6191885 rs181017988 |
27 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770583397 CA6191887 |
29 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6191888 rs570824870 |
30 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372990813 CA381893075 |
31 | A>E | No |
ClinGen ESP TOPMed |
|
|
CA381893071 rs1361303949 |
31 | A>T | No |
ClinGen gnomAD |
|
|
CA224702058 rs372990813 |
31 | A>V | No |
ClinGen ESP TOPMed |
|
|
rs555522864 CA6191890 |
33 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6191891 rs200971330 |
34 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200551779 CA6191892 |
36 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381893118 rs1279299525 |
36 | G>R | No |
ClinGen gnomAD |
|
|
CA381893130 rs1590859943 |
37 | S>A | No |
ClinGen Ensembl |
|
|
rs1287359155 CA381893135 |
37 | S>C | No |
ClinGen gnomAD |
|
|
rs1353881606 CA381893146 |
38 | G>E | No |
ClinGen gnomAD |
|
|
rs1209448732 CA381893155 |
39 | R>T | No |
ClinGen gnomAD |
|
|
rs750549977 CA6191894 |
40 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745739855 CA6191910 |
42 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745739855 CA381895892 |
42 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224709908 rs1027558603 |
44 | S>F | No |
ClinGen Ensembl |
|
|
CA381895905 rs1385375364 |
45 | S>G | No |
ClinGen TOPMed |
|
|
rs762270771 CA381895910 |
45 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6191913 rs773641826 |
48 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766439898 CA6191915 |
49 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759855292 CA6191917 |
51 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1219162384 CA381895957 |
53 | L>V | No |
ClinGen TOPMed |
|
|
CA381896011 rs1332375893 |
59 | L>P | No |
ClinGen gnomAD |
|
|
CA6191920 rs150605059 |
60 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 61 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA224709939 rs907670016 |
61 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA381896074 rs1285872462 |
65 | E>* | No |
ClinGen TOPMed |
|
| TCGA novel | 66 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6191922 rs777749208 |
67 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA381896151 rs1467852498 |
69 | Q>* | No |
ClinGen gnomAD |
|
|
rs750728814 CA224709949 |
70 | V>L | No |
ClinGen Ensembl |
|
|
rs971511650 CA224709962 |
71 | I>T | No |
ClinGen Ensembl |
|
|
rs961293998 CA224709965 |
74 | L>V | No |
ClinGen TOPMed |
|
|
rs751517491 CA6191923 |
76 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs376527356 CA6191925 |
82 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376527356 CA381896332 |
82 | V>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 83 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381897653 rs1590872402 |
84 | G>A | No |
ClinGen Ensembl |
|
|
rs1394098831 CA381897675 |
86 | A>P | No |
ClinGen gnomAD |
|
|
CA381897685 rs1314564094 |
86 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs757162630 CA6191942 |
88 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs757162630 CA6191943 |
88 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs749905870 CA6191944 |
89 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs749905870 CA381897745 |
89 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA224713362 rs945517206 |
91 | L>R | No |
ClinGen gnomAD |
|
|
rs1279891040 CA381897801 |
92 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA381897796 rs1217342916 |
92 | M>T | No |
ClinGen gnomAD |
|
|
rs1482371390 CA381897819 |
93 | Y>C | No |
ClinGen gnomAD |
|
|
rs1183994098 CA381897845 |
94 | I>M | No |
ClinGen gnomAD |
|
|
rs755670852 CA6191947 |
95 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1418850491 CA381897898 |
97 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1410009187 CA381897903 |
98 | D>N | No |
ClinGen TOPMed |
|
|
CA6191949 rs367571298 |
99 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6191948 rs367571298 |
99 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381897932 rs1382633361 |
99 | C>Y | No |
ClinGen gnomAD |
|
|
CA381897946 rs1424432858 |
100 | W>G | No |
ClinGen TOPMed |
|
|
rs141761283 CA381897992 |
102 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381897998 rs1358254217 |
103 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1268757323 CA381898024 |
104 | V>A | No |
ClinGen TOPMed |
|
|
rs750081688 CA6191953 |
105 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6191954 rs777324584 |
106 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1240993010 CA381898116 |
109 | W>* | No |
ClinGen gnomAD |
|
|
CA381898123 rs1287275690 |
110 | L>R | No |
ClinGen TOPMed |
|
|
CA6191958 rs763665698 |
112 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6191959 rs545572066 |
114 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 116 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 116 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763898258 CA6191961 |
117 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6191960 rs763097741 |
117 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381898175 rs774044430 |
118 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6191962 rs774044430 |
118 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381898202 rs1351449335 |
120 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA381898203 rs1351449335 |
120 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1425567898 CA381898209 |
121 | G>D | No |
ClinGen gnomAD |
|
|
rs865966332 CA224713755 |
123 | R>K | No |
ClinGen Ensembl |
|
| TCGA novel | 123 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1002721982 CA224713756 |
127 | V>A | No |
ClinGen TOPMed |
|
|
CA6191990 rs765829063 |
128 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6191991 rs754562195 |
128 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764781874 CA6191992 |
130 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752457198 CA6191993 |
133 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6191994 rs147844574 |
134 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6191995 rs781699415 |
134 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381898297 rs1319120416 |
135 | Y>C | No |
ClinGen gnomAD |
|
|
rs1045848152 CA224713786 |
135 | Y>H | No |
ClinGen Ensembl |
|
|
rs150822096 CA381898308 |
136 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM226690 CA6191997 rs572486802 |
137 | R>* | skin Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA381898312 rs1323973590 |
137 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6191998 rs780650034 |
138 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413670862 CA381898324 |
139 | Y>C | No |
ClinGen TOPMed |
|
|
CA224713817 rs1001868374 |
142 | I>V | No |
ClinGen Ensembl |
|
|
CA381898722 rs772315881 |
145 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6192023 rs772315881 |
145 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs555508922 CA6192024 |
148 | H>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6192025 rs187207981 |
152 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6192027 rs776363348 |
153 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs769135846 CA6192029 |
156 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1463267340 CA381898800 |
157 | I>T | No |
ClinGen TOPMed |
|
|
CA6192030 rs775168390 |
158 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA6192032 rs763814859 |
159 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs762592268 CA6192031 |
159 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA224717551 rs966718703 |
160 | Y>D | No |
ClinGen Ensembl |
|
|
CA6192034 rs761117076 |
161 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs751315702 CA6192033 |
161 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1248099720 CA381898837 |
163 | H>L | No |
ClinGen gnomAD |
|
| TCGA novel | 163 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 164 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766772122 CA6192036 |
166 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1410441699 CA381898863 |
167 | G>C | No |
ClinGen TOPMed |
|
|
CA6192037 rs754242193 |
167 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA381898873 rs1565319993 |
169 | G>S | No |
ClinGen Ensembl |
|
|
CA224717606 rs912133159 |
171 | F>I | No |
ClinGen Ensembl |
|
|
CA6192038 rs755534774 |
173 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA381898901 rs755534774 |
173 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA6192040 rs752746208 |
180 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1449714867 CA381898980 |
184 | K>R | No |
ClinGen gnomAD |
|
|
rs777963404 CA6192042 |
185 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1474960185 CA381899000 |
187 | G>D | No |
ClinGen TOPMed |
|
|
rs770570893 CA6192044 |
189 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM932030 CA6192043 rs141474808 |
189 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6192045 rs559866051 |
193 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1355460856 CA381899039 |
194 | T>A | No |
ClinGen gnomAD |
|
|
rs745751373 CA6192046 |
195 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1257227970 CA381899052 |
196 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 197 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA224717690 rs369680804 |
197 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
rs901730923 CA224717692 |
199 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs532170566 CA6192047 |
200 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs545718921 CA6192048 |
200 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs545718921 CA381899074 |
200 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA224717711 rs145198493 |
201 | M>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA381899080 rs1248706889 |
201 | M>T | No |
ClinGen gnomAD |
|
|
rs200200192 CA6192049 |
201 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1170211862 CA381899088 |
202 | P>L | No |
ClinGen gnomAD |
|
|
rs768347995 CA6192050 |
203 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1590876286 CA381899118 |
207 | Y>D | No |
ClinGen Ensembl |
|
|
rs1385752148 CA381899135 |
209 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 209 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6192053 rs766607711 |
210 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1213122499 CA381899148 |
211 | G>A | No |
ClinGen TOPMed |
|
|
rs777087960 CA6192055 |
212 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777087960 CA6192054 |
212 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1232153253 CA381899166 |
213 | I>V | No |
ClinGen TOPMed |
|
|
CA381899175 rs1215917285 |
214 | C>F | No |
ClinGen gnomAD |
|
|
rs377638530 CA6192080 |
217 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6192081 rs376932526 |
218 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs528376420 CA224718317 |
218 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6192082 rs767660958 |
219 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs547458013 CA6192084 |
221 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs527280955 CA6192083 |
221 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs147620761 CA6192085 |
222 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_077236 CA358304 rs869025595 RCV000208755 |
223 | Y>H | found in patients with Charcot-Marie-Tooth disease; unknown pathological significance [UniProt] | No |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1590876783 CA381899237 |
224 | L>S | No |
ClinGen Ensembl |
|
|
rs1358039883 COSM932032 CA381899259 |
227 | K>N | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs747675475 CA6192087 |
228 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1401317695 CA381899272 |
229 | G>A | No |
ClinGen gnomAD |
|
|
CA6192089 rs777413541 |
230 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA6192090 rs777413541 |
230 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1307220915 CA381899287 |
232 | N>D | No |
ClinGen gnomAD |
|
|
CA381899291 rs993436055 |
232 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs763346691 CA6192093 |
232 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199710124 CA6192095 |
234 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381899300 rs1482482895 |
234 | I>V | No |
ClinGen gnomAD |
|
|
CA6192096 rs774777474 |
235 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA224718444 rs868299457 |
237 | V>M | No |
ClinGen gnomAD |
|
|
rs761947903 CA6192097 |
238 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA224718453 rs893767547 |
239 | G>R | No |
ClinGen Ensembl |
|
|
rs143084061 CA6192100 |
240 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs750601307 CA6192099 |
240 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6192101 rs766238005 |
241 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6192102 COSM690649 rs766238005 |
241 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA381899354 rs1406501195 |
243 | E>D | No |
ClinGen gnomAD |
|
|
rs1349102968 CA381899348 |
243 | E>K | No |
ClinGen TOPMed |
|
|
CA6192104 rs778985290 |
245 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224718494 rs985404193 |
246 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA381899385 rs1300860708 |
248 | M>I | No |
ClinGen gnomAD |
|
|
CA6192105 rs752648666 |
248 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs757863455 CA6192106 |
248 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151179593 CA6192107 |
250 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA224718530 rs151179593 |
250 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381899396 rs1385976805 |
251 | K>Q | No |
ClinGen TOPMed |
|
|
CA224718535 rs1009121332 |
252 | N>D | No |
ClinGen Ensembl |
|
|
rs201226780 CA224718552 |
253 | A>V | No |
ClinGen gnomAD |
|
|
CA6192110 rs770537432 |
254 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA381899425 rs1235037681 |
255 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA224718630 rs375899545 |
256 | L>P | No |
ClinGen ESP gnomAD |
|
|
rs775977809 CA6192113 |
257 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749638457 CA6192112 |
257 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381899444 rs1464901952 |
259 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs772143127 CA6192116 |
260 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590877021 CA381899462 |
262 | F>L | No |
ClinGen Ensembl |
|
|
rs773197936 CA6192117 |
266 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6192118 rs140088423 |
268 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6192119 rs766690472 |
268 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1407056575 CA381899506 |
269 | H>R | No |
ClinGen gnomAD |
|
|
CA381899529 rs1356644850 |
271 | A>T | No |
ClinGen gnomAD |
|
|
rs765038504 CA6192142 |
272 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA6192143 rs775114294 |
274 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA381899570 rs1446547706 |
277 | Y>* | No |
ClinGen gnomAD |
|
|
rs756689196 CA6192147 |
277 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6192146 rs751563514 |
277 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381899589 rs1345371380 |
280 | G>A | No |
ClinGen TOPMed |
|
|
rs1164253106 CA381899591 |
281 | E>K | No |
ClinGen gnomAD |
|
|
rs1359950186 CA381899606 |
282 | N>K | No |
ClinGen gnomAD |
|
|
rs767028207 CA6192148 |
283 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6192149 rs555630722 |
284 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6192151 rs150303834 |
285 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381899628 rs1301617949 |
286 | K>E | No |
ClinGen gnomAD |
|
|
CA224719607 rs966019351 |
288 | V>M | No |
ClinGen Ensembl |
|
|
CA224719609 rs976388037 |
289 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA381899654 rs1385550515 |
290 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA381899660 rs959980779 |
290 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6192152 COSM429865 rs139005829 |
291 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA224719643 rs758858201 |
292 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6192155 rs747527489 |
295 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6192156 rs771080849 |
297 | R>* | No |
ClinGen ExAC gnomAD |
|
|
COSM690648 rs140793537 CA381899703 |
297 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs140793537 CA6192157 |
297 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381899720 rs1161276016 |
300 | Q>E | No |
ClinGen TOPMed |
|
|
CA6192159 rs373962871 |
301 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381899728 rs373962871 |
301 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769882787 CA6192160 |
302 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs775837937 CA6192161 |
302 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA224719713 rs868203231 |
304 | Q>* | No |
ClinGen Ensembl |
|
|
rs1401354279 CA381899754 |
304 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs762649332 CA6192162 |
305 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA381899765 rs1443720597 |
306 | Y>S | No |
ClinGen TOPMed |
|
|
CA6192163 rs763953250 |
307 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761761542 CA6192165 |
310 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA381899797 rs1590877720 |
311 | P>S | No |
ClinGen Ensembl |
|
|
CA381899801 rs1454027968 |
312 | C>R | No |
ClinGen gnomAD |
|
|
CA381899804 rs1326863094 |
312 | C>Y | No |
ClinGen gnomAD |
|
|
CA381899810 rs1331245188 |
313 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs543443460 CA6192168 |
315 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1676307 rs34421064 CA6192170 |
317 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
VAR_033864 rs34421064 CA224719771 |
317 | R>G | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs879238086 CA224719781 |
317 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs145750206 CA6192171 |
318 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6192173 rs752069694 |
319 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1477845039 CA381899862 |
321 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6192176 rs201842357 COSM1357016 |
323 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs745920826 CA6192177 |
324 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1170611773 CA381899882 |
325 | W>G | No |
ClinGen gnomAD |
|
|
rs1170611773 CA381899881 |
325 | W>R | No |
ClinGen gnomAD |
|
|
rs200290361 CA6192178 |
326 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330358207 CA381899900 |
328 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 332 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1455530684 CA381899942 |
334 | I>V | No |
ClinGen TOPMed |
|
|
CA381899952 rs1335813351 |
335 | T>I | No |
ClinGen gnomAD |
|
|
rs768287325 CA6192181 |
336 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1490586880 CA381900000 |
341 | P>L | No |
ClinGen gnomAD |
|
|
rs1029608416 CA381900012 |
343 | T>I | No |
ClinGen gnomAD |
|
|
CA224721662 rs1029608416 |
343 | T>S | No |
ClinGen gnomAD |
|
|
rs138423103 CA6192200 |
345 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745775539 CA6192201 |
346 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6192202 rs772958795 |
348 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs772958795 CA381900037 |
348 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1007075989 CA224721667 |
349 | H>Y | No |
ClinGen Ensembl |
|
|
CA6192203 rs760720423 |
350 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381900053 rs1386528396 |
350 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA381900054 rs1386528396 |
350 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA381900061 rs1228995846 |
351 | T>I | No |
ClinGen TOPMed |
|
|
CA381900066 rs1287910763 |
352 | Q>R | No |
ClinGen gnomAD |
|
|
rs770321218 CA6192204 |
353 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 354 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6192206 rs768756525 |
355 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224721696 rs962925099 CA381900096 |
356 | D>E | No |
ClinGen gnomAD |
|
|
CA224721687 COSM1203426 rs537539523 |
356 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA381900112 rs1346518188 |
359 | H>Y | No |
ClinGen TOPMed |
|
|
rs752405049 CA6192208 |
360 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA224721733 rs973279966 |
360 | T>S | No |
ClinGen Ensembl |
|
|
CA6192209 VAR_033865 rs34113941 |
361 | M>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs377676292 CA6192210 |
363 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381900141 rs1405195762 |
363 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA381900138 rs377676292 |
363 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1590879099 CA381900150 |
364 | E>G | No |
ClinGen Ensembl |
|
|
CA381900148 rs1590879095 |
364 | E>K | No |
ClinGen Ensembl |
|
|
rs1463584824 CA381900154 |
365 | A>T | No |
ClinGen TOPMed |
|
|
rs756684772 CA6192213 |
367 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756684772 CA6192212 |
367 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256111801 CA381900177 |
369 | L>I | No |
ClinGen gnomAD |
|
|
rs371445822 COSM196236 CA6192215 |
371 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs144285130 CA6192216 |
373 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6192217 rs144285130 |
373 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1444713069 CA381900213 |
374 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 374 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381900212 rs1444713069 |
374 | K>Q | No |
ClinGen gnomAD |
|
|
CA6192218 rs758172784 |
374 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1455181597 CA381900233 |
377 | F>I | No |
ClinGen gnomAD |
|
|
CA6192221 rs770857243 |
378 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs745315498 CA381900256 |
380 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745315498 CA6192223 |
380 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381900266 rs1250324056 |
382 | T>A | No |
ClinGen TOPMed |
|
|
CA381900274 rs1590879175 |
383 | E>A | No |
ClinGen Ensembl |
|
|
CA6192226 rs762743938 |
385 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324920812 CA381900290 |
386 | E>Q | No |
ClinGen TOPMed |
|
|
CA381900299 rs1239995206 |
387 | V>L | No |
ClinGen gnomAD |
|
|
rs773585309 CA6192228 |
388 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1321840439 CA381900313 |
389 | N>S | No |
ClinGen gnomAD |
No associated diseases with Q96PD7
No regional properties for Q96PD7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q96PD7 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.1.20 | Transferring groups other than amino-acyl groups |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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 membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| integral component of endoplasmic reticulum membrane | The component of the endoplasmic reticulum 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. |
| 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. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| lipid droplet | An intracellular non-membrane-bounded organelle comprising a matrix of coalesced lipids surrounded by a phospholipid monolayer. May include associated proteins. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| perinuclear endoplasmic reticulum membrane | The membrane of the perinuclear endoplasmic reticulum, which is the portion of endoplasmic reticulum, the intracellular network of tubules and cisternae, that occurs near the nucleus. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| 2-acylglycerol O-acyltransferase activity | Catalysis of the reaction: acyl-CoA + 2-acylglycerol = CoA + diacylglycerol. |
| diacylglycerol O-acyltransferase activity | Catalysis of the reaction: acyl-CoA + 1,2-diacylglycerol = CoA + triacylglycerol. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| retinol O-fatty-acyltransferase activity | Catalysis of the reaction: acyl-CoA + retinol = CoA + retinyl ester. |
21 GO annotations of biological process
| Name | Definition |
|---|---|
| bile acid signaling pathway | The series of molecular signals initiated by bile acid binding to its receptor, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| cellular response to oleic acid | 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 an oleic acid stimulus. |
| cellular triglyceride homeostasis | Any process involved in the maintenance of an internal steady state of triglyceride within a cell or between a cell and its external environment. |
| cholesterol homeostasis | Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell. |
| diacylglycerol biosynthetic process | The chemical reactions and pathways resulting in the formation of diacylglycerol, a glyceride in which any two of the R groups (positions not specified) are acyl groups while the remaining R group can be either H or an alkyl group. |
| diacylglycerol metabolic process | The chemical reactions and pathways involving diacylglycerol, a glyceride in which any two of the R groups (positions not specified) are acyl groups while the remaining R group can be either H or an alkyl group. |
| fat pad development | The progression of a fat pad from its initial formation to its mature structure. A fat pad is an accumulation of adipose tissue. |
| fatty acid homeostasis | Any process involved in the maintenance of an internal steady state of fatty acid within an organism or cell. |
| glycerol metabolic process | The chemical reactions and pathways involving glycerol, 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids. |
| lipid metabolic process | The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. |
| lipid storage | The accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. |
| long-chain fatty-acyl-CoA metabolic process | The chemical reactions and pathways involving long-chain fatty-acyl-CoAs, any derivative of coenzyme A in which the sulfhydryl group is in a thioester linkage with a long-chain fatty-acyl group. Long-chain fatty-acyl-CoAs have chain lengths of C13 or more. |
| low-density lipoprotein particle clearance | The process in which a low-density lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. |
| monoacylglycerol biosynthetic process | The chemical reactions and pathways resulting in the formation of monoacylglycerol, any ester of glycerol in which any one of its hydroxyl groups has been acylated with a fatty acid, the other being non-esterified. |
| negative regulation of fatty acid oxidation | Any process that stops, prevents, or reduces the frequency, rate or extent of fatty acid oxidation. |
| positive regulation of gluconeogenesis | Any process that activates or increases the frequency, rate or extent of gluconeogenesis. |
| positive regulation of triglyceride biosynthetic process | Any process that increases the rate, frequency, or extent of triglyceride biosynthesis. Triglyceride biosynthesis is the collection of chemical reactions and pathways resulting in the formation of triglyceride, any triester of glycerol. |
| regulation of cholesterol metabolic process | Any process that modulates the rate, frequency, or extent of cholesterol metabolism, the chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. |
| regulation of lipoprotein metabolic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipoproteins, any conjugated, water-soluble protein in which the nonprotein group consists of a lipid or lipids. |
| regulation of plasma lipoprotein particle levels | Any process involved in the maintenance of internal levels of plasma lipoprotein particles within an organism. |
| triglyceride biosynthetic process | The chemical reactions and pathways resulting in the formation of a triglyceride, any triester of glycerol. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q28C88 | mogat1 | 2-acylglycerol O-acyltransferase 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKTLIAAYSG | VLRGERQAEA | DRSQRSHGGP | ALSREGSGRW | GTGSSILSAL | QDLFSVTWLN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RSKVEKQLQV | ISVLQWVLSF | LVLGVACSAI | LMYIFCTDCW | LIAVLYFTWL | VFDWNTPKKG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GRRSQWVRNW | AVWRYFRDYF | PIQLVKTHNL | LTTRNYIFGY | HPHGIMGLGA | FCNFSTEATE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VSKKFPGIRP | YLATLAGNFR | MPVLREYLMS | GGICPVSRDT | IDYLLSKNGS | GNAIIIVVGG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AAESLSSMPG | KNAVTLRNRK | GFVKLALRHG | ADLVPIYSFG | ENEVYKQVIF | EEGSWGRWVQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KKFQKYIGFA | PCIFHGRGLF | SSDTWGLVPY | SKPITTVVGE | PITIPKLEHP | TQQDIDLYHT |
| 370 | 380 | ||||
| MYMEALVKLF | DKHKTKFGLP | ETEVLEVN |