P41439
PR
Gene name |
FOLR3 |
Protein name |
Folate receptor gamma |
Names |
FR-gamma, Folate receptor 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2352 |
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 P41439
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P41439-F1 | Predicted | AlphaFoldDB |
259 variants for P41439
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA381739633 rs1488003191 |
3 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6168814 rs571452867 |
6 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 7 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA224394783 rs538735738 |
8 | M>R | No |
ClinGen 1000Genomes TOPMed |
|
|
rs761145244 CA6168815 |
9 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1228592393 CA381739695 |
12 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 13 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1167451558 CA381739705 |
14 | A>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 18 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381739737 rs752321934 |
19 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457681679 CA381739734 |
19 | A>T | No |
ClinGen gnomAD |
|
|
CA6168820 rs752321934 |
19 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA224394841 rs966631588 |
20 | G>R | No |
ClinGen Ensembl |
|
|
rs763523423 CA6168822 |
21 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs757326801 CA6168824 |
25 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1428041009 CA381739780 |
26 | S>N | No |
ClinGen TOPMed |
|
|
rs1287584454 CA381739790 |
27 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6168829 rs554883482 |
28 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1802609 CA6168828 |
28 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6168830 rs772181759 |
29 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772181759 CA381739794 |
29 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6168831 rs371010355 |
31 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1591223176 CA381739826 |
34 | L>F | No |
ClinGen Ensembl |
|
|
rs533820298 CA6168834 |
35 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381739846 rs1204797165 |
37 | C>Y | No |
ClinGen TOPMed |
|
|
rs1006933536 CA224394877 |
38 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA381739852 rs1006933536 |
38 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs576868891 CA6168837 |
40 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs576868891 CA381739867 |
40 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6168836 rs576868891 |
40 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6168838 rs762569708 |
41 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6168839 rs763651774 |
42 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751067605 CA6168840 |
43 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761434614 CA381739906 |
46 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs761434614 CA6168841 |
46 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA6168842 rs767525697 |
47 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381739913 rs767525697 |
47 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224394932 rs999511898 |
49 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6168844 rs746507277 |
50 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1224266770 CA381739941 |
51 | D>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 51 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1253715257 CA381739949 |
52 | E>G | No |
ClinGen TOPMed |
|
|
CA6168846 rs752960236 |
52 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381739947 rs752960236 |
52 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224394975 rs958334378 |
54 | Y>* | No |
ClinGen TOPMed |
|
|
rs1487966974 CA381739962 |
54 | Y>C | No |
ClinGen TOPMed |
|
|
rs758588856 CA6168847 |
55 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1223180148 CA381739976 |
56 | Q>H | No |
ClinGen TOPMed |
|
|
CA6168883 rs1555061421 |
60 | W>* | No |
ClinGen Ensembl |
|
|
CA381740924 rs1207479684 |
60 | W>C | No |
ClinGen TOPMed |
|
|
rs771706070 CA6168882 |
60 | W>R | No |
ClinGen ExAC gnomAD |
|
| rs759309921 | 62 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772891912 CA6168885 |
64 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA6168886 rs760639792 |
64 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs368001593 CA6168887 |
66 | C>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371900505 CA6168889 |
67 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371900505 CA6168888 |
67 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA381741049 rs1219474880 |
68 | A>T | No |
ClinGen TOPMed |
|
|
CA381741067 rs1355127160 |
69 | S>N | No |
ClinGen TOPMed |
|
|
rs368845102 CA224397271 |
70 | T>A | No |
ClinGen ESP |
|
|
CA381741076 rs1311307600 |
70 | T>N | No |
ClinGen TOPMed |
|
|
rs368845102 CA381741072 |
70 | T>P | No |
ClinGen ESP |
|
|
CA381741103 rs1208628137 |
72 | Q>R | No |
ClinGen gnomAD |
|
|
rs201489135 CA381741141 |
75 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381741134 rs1488861984 |
75 | H>Y | No |
ClinGen gnomAD |
|
|
rs750547541 CA6168894 |
76 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA6168895 rs756236653 |
77 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6168896 rs780361555 |
78 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA381741165 rs1370313284 |
79 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA381741162 rs1172218150 |
79 | S>P | No |
ClinGen gnomAD |
|
|
CA381741161 rs1172218150 |
79 | S>T | No |
ClinGen gnomAD |
|
|
CA224397288 rs372100955 |
80 | R>C | No |
ClinGen ESP TOPMed |
|
|
CA6168897 rs375384827 |
80 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1179758766 CA381741177 |
82 | Y>H | No |
ClinGen TOPMed |
|
| rs1565349257 | 83 | N>RARPCLK* | No | Ensembl | |
|
CA381741194 rs1385315780 |
84 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs938892813 CA224397435 |
86 | W>* | No |
ClinGen gnomAD |
|
|
rs938892813 CA381741214 |
86 | W>C | No |
ClinGen gnomAD |
|
|
rs200810395 CA6168900 |
87 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376248252 CA6168901 |
89 | C>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 90 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6168902 rs771902115 |
91 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773021435 CA6168903 |
92 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA381741267 rs1284134129 |
94 | P>T | No |
ClinGen gnomAD |
|
|
rs770479039 CA6168905 |
95 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6168909 rs61734430 |
98 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373128648 CA6168910 |
98 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6168911 rs373128648 |
98 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376028312 CA6168912 |
100 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381741313 rs1364331512 |
101 | I>V | No |
ClinGen gnomAD |
|
|
rs766540983 CA6168914 |
104 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA6168915 rs200388820 |
105 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000947361 rs71891516 |
106 | L>* | No |
ClinVar dbSNP |
|
|
rs1434932332 CA381741354 |
106 | L>R | No |
ClinGen gnomAD |
|
|
CA679927253 rs1393495851 |
107 | Y>F | No |
ClinGen TOPMed |
|
| VAR_081429 | 107 | Y>del | No | UniProt | |
|
CA6168917 rs188821779 RCV000883338 |
108 | E>D | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA224397531 rs779066064 |
108 | E>Q | No |
ClinGen Ensembl |
|
|
CA381741371 rs1394963138 |
109 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1399357241 CA381741368 |
109 | C>S | No |
ClinGen gnomAD |
|
|
CA6168918 rs779400298 |
114 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6168919 rs748474250 |
114 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA224397559 rs1027917748 |
115 | P>L | No |
ClinGen Ensembl |
|
|
CA224397548 rs369958367 |
115 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6168920 rs369958367 |
115 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381741413 rs1176183701 |
117 | I>V | No |
ClinGen TOPMed |
|
|
CA6168922 rs374628070 |
118 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6168921 rs777500270 |
118 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA224397567 rs1019534570 |
119 | Q>H | No |
ClinGen gnomAD |
|
|
CA381741442 rs1223745810 |
120 | V>D | No |
ClinGen gnomAD |
|
|
CA6168947 rs749285461 |
120 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768437360 CA6168948 |
121 | N>K | No |
ClinGen ExAC |
|
|
rs1263445015 CA381741454 |
122 | Q>* | No |
ClinGen gnomAD |
|
|
rs774245593 CA6168949 |
122 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 122 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760787092 CA6168950 |
125 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs771137386 CA6168951 |
125 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6168952 rs771137386 |
125 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1001587689 CA224397980 |
126 | K>R | No |
ClinGen TOPMed |
|
|
CA381741487 rs1413950195 |
127 | E>Q | No |
ClinGen gnomAD |
|
|
CA6168954 rs765420568 |
128 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs765420568 CA381741495 |
128 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753242964 CA6168955 |
128 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs763619960 CA6168956 |
129 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA381741509 rs1424434732 |
130 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 130 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6168957 rs551080007 |
132 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381741557 rs1398433924 |
133 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 134 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6168959 rs757580978 |
136 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757580978 CA381741587 |
136 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310494244 CA381741603 |
137 | E>K | No |
ClinGen gnomAD |
|
|
CA381741604 rs1310494244 |
137 | E>Q | No |
ClinGen gnomAD |
|
|
rs780854711 CA381741684 |
139 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780854711 CA6168961 |
139 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258415510 CA381741780 |
140 | E>G | No |
ClinGen TOPMed |
|
|
rs1422084123 CA381741743 |
140 | E>K | No |
ClinGen TOPMed |
|
|
CA6168964 rs374588118 |
141 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA381741821 rs374588118 |
141 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1237542321 CA381741843 |
141 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1454471858 CA381741886 |
142 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs768691691 CA6168966 |
142 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs1412289568 CA381741894 |
143 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1278386357 CA381741936 |
144 | E>K | No |
ClinGen TOPMed |
|
|
CA6168967 rs778739046 |
145 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747935016 CA224398152 |
146 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1338166307 CA381741989 |
146 | C>Y | No |
ClinGen TOPMed |
|
|
rs771770450 CA6168969 |
147 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771770450 CA6168970 |
147 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746149373 CA6168971 |
147 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs746149373 CA6168972 |
147 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6168974 rs368585597 |
148 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381742057 rs1450315025 |
148 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA224398190 rs1037736325 |
150 | Y>H | No |
ClinGen TOPMed |
|
|
rs764608483 CA6168975 |
152 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1300961937 CA381742189 |
152 | C>R | No |
ClinGen gnomAD |
|
|
CA381742194 rs764608483 |
152 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA381742279 rs1159690505 |
154 | S>R | No |
ClinGen gnomAD |
|
|
CA6168977 rs762168263 |
156 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1351318282 CA381742335 |
156 | W>* | No |
ClinGen gnomAD |
|
|
rs1311164528 CA381742321 |
156 | W>R | No |
ClinGen gnomAD |
|
|
rs767784018 CA6168978 |
157 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1313387200 CA381742461 |
160 | W>C | No |
ClinGen gnomAD |
|
|
CA224398240 rs932158447 |
162 | W>C | No |
ClinGen Ensembl |
|
|
rs746750952 CA6169008 |
165 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381742552 rs1461247999 |
165 | G>R | No |
ClinGen gnomAD |
|
|
CA381742568 rs1461247999 |
165 | G>W | No |
ClinGen gnomAD |
|
|
CA6169009 rs757145396 |
167 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA381743690 rs1219571103 |
168 | E>G | No |
ClinGen gnomAD |
|
|
CA6169010 rs780352805 |
168 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749482418 CA6169011 |
170 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6169014 rs372988226 |
172 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6169015 rs372988226 |
172 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381743817 rs375896474 |
173 | A>D | No |
ClinGen ESP ExAC gnomAD |
|
| rs1231432460 | 173 | A>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381743813 rs1399685670 |
173 | A>T | No |
ClinGen TOPMed |
|
|
rs375896474 CA6169017 |
173 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA381743887 rs1403407019 |
175 | C>F | No |
ClinGen gnomAD |
|
|
rs771300070 CA6169019 |
176 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs508114 CA6169018 |
176 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776253595 CA6169020 |
179 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA224398649 rs2229185 |
180 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2229185 CA6169021 |
180 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2229185 CA6169022 |
180 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752197295 CA6169023 |
181 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6169024 rs762546336 |
182 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA381744101 rs1285311190 |
182 | F>L | No |
ClinGen gnomAD |
|
|
CA381744156 rs1236814111 |
185 | P>A | No |
ClinGen gnomAD |
|
|
rs751542660 CA6169026 |
186 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781187377 CA6169029 |
187 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6169028 rs781187377 |
187 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755206107 CA6169030 |
188 | L>F | No |
ClinGen ExAC TOPMed |
|
|
CA224398701 rs755206107 |
188 | L>V | No |
ClinGen ExAC TOPMed |
|
|
CA224398738 rs1034524239 |
190 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA6169031 rs368700629 |
191 | G>D | No |
ClinGen ESP ExAC TOPMed |
|
|
CA224398739 rs751139536 |
191 | G>S | No |
ClinGen Ensembl |
|
|
CA381744327 rs1338796568 |
192 | L>F | No |
ClinGen TOPMed |
|
|
CA6169033 rs772144234 |
193 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224398761 rs992572383 |
194 | S>C | No |
ClinGen TOPMed |
|
|
rs1370147982 CA381744445 |
195 | H>R | No |
ClinGen gnomAD |
|
|
rs951065600 CA224398785 |
196 | S>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 199 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 200 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381744555 rs1475430571 |
201 | N>S | No |
ClinGen TOPMed |
|
|
rs1383536380 CA381744614 |
202 | Y>C | No |
ClinGen gnomAD |
|
|
CA381744625 rs1396129869 |
203 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 203 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200896195 CA6169038 |
204 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758672071 CA381744706 |
204 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758672071 CA6169039 |
204 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775238809 CA6169040 |
205 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381744746 rs1425820479 |
206 | S>N | No |
ClinGen gnomAD |
|
|
CA6169043 rs375347410 |
206 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6169044 rs761906150 |
207 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6169045 rs767401077 |
208 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6169046 rs199841936 |
208 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA224398911 rs199841936 |
208 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1282565475 CA381744889 |
210 | I>L | No |
ClinGen TOPMed |
|
|
rs184446689 CA6169047 |
210 | I>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6169049 rs752978331 |
211 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs778937070 CA6169048 |
211 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs758461461 CA6169050 |
212 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA381745056 rs1238485823 |
212 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1441324769 CA381745058 |
212 | M>T | No |
ClinGen gnomAD |
|
|
CA381745055 rs1238485823 |
212 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs376464557 CA6169051 |
213 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381745215 rs1314706423 |
216 | S>P | No |
ClinGen gnomAD |
|
|
CA381745257 rs1397870685 |
218 | Q>R | No |
ClinGen TOPMed |
|
|
CA6169054 rs781733735 |
220 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs770195150 CA6169056 |
221 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770195150 CA224398971 |
221 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555061805 CA6169058 |
222 | N>K | No |
ClinGen Ensembl |
|
|
CA6169057 rs373658257 |
222 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381745427 rs1378036054 |
224 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA381745446 rs1591226012 |
225 | V>G | No |
ClinGen Ensembl |
|
|
CA6169060 rs749003486 |
225 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 226 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs912972943 CA224398980 |
226 | A>T | No |
ClinGen gnomAD |
|
|
CA6169061 rs376715080 |
228 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6169063 rs369675505 |
229 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1202886613 CA381745603 |
230 | A>T | No |
ClinGen gnomAD |
|
|
rs1258650407 CA381745627 |
230 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6169064 rs373588555 |
231 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145575368 CA6169065 |
231 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6169069 rs372529845 |
233 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381745726 rs1479832401 |
234 | N>K | No |
ClinGen gnomAD |
|
|
rs1565350091 CA381745784 |
236 | G>E | No |
ClinGen Ensembl |
|
|
CA6169071 rs764135054 |
236 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs757358593 CA6169073 |
237 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6169072 rs769783918 |
237 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA381745815 rs757358593 |
237 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375597867 CA6169074 |
238 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1343660670 CA381745864 |
239 | S>Y | No |
ClinGen gnomAD |
|
|
rs370372415 CA6169076 |
240 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6169077 rs374758856 |
240 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1348882048 CA381745923 |
241 | G>A | No |
ClinGen TOPMed |
|
|
CA6169079 rs768376503 |
242 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 243 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381745983 rs1488688884 |
244 | D>G | No |
ClinGen gnomAD |
No associated diseases with P41439
1 regional properties for P41439
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | GPCR, rhodopsin-like, 7TM | 79 - 342 | IPR017452 |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchored component of external side of plasma membrane | The component of the plasma membrane consisting of the gene products that are tethered to the external side of the membrane only by a covalently attached anchor, such as a lipid group embedded in the membrane. Gene products with peptide sequences that are embedded in the membrane are excluded from this grouping. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| extrinsic component of membrane | The component of a membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| specific granule lumen | The volume enclosed by the membrane of a specific granule, a granule with a membranous, tubular internal structure, found primarily in mature neutrophil cells. Most are released into the extracellular fluid. Specific granules contain lactoferrin, lysozyme, vitamin B12 binding protein and elastase. |
| tertiary granule lumen | Any membrane-enclosed lumen that is part of a tertiary granule. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| folic acid binding | Binding to folic acid, pteroylglutamic acid. Folic acid is widely distributed as a member of the vitamin B complex and is essential for the synthesis of purine and pyrimidines. |
| signaling receptor activity | Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| folic acid transport | The directed movement of folic acid (pteroylglutamic acid) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Folic acid is widely distributed as a member of the vitamin B complex and is essential for the synthesis of purine and pyrimidines. |
| fusion of sperm to egg plasma membrane involved in single fertilization | The binding and fusion of a sperm, with the plasma membrane of the oocyte as part of the process of single fertilization. In sperm with flagella, binding occurs at the posterior (post-acrosomal) region of the sperm head. |
| sperm-egg recognition | The initial contact step made between the sperm plasma membrane and outer layer of the egg during fertilization. |
119 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q2YDN1 | GPR161 | G protein-coupled receptor 161 | Bos taurus (Bovine) | PR |
| Q0GBZ5 | HCRTR1 | Orexin/Hypocretin receptor type 1 | Bos taurus (Bovine) | PR |
| Q17QD8 | GPR37L1 | G-protein coupled receptor 37-like 1 | Bos taurus (Bovine) | PR |
| Q8SPN1 | PROKR2 | Prokineticin receptor 2 | Bos taurus (Bovine) | PR |
| P46626 | ADRB3 | Beta-3 adrenergic receptor | Bos taurus (Bovine) | PR |
| O46639 | TRHR | Thyrotropin-releasing hormone receptor | Bos taurus (Bovine) | PR |
| Q8SPN2 | PROKR1 | Prokineticin receptor 1 | Bos taurus (Bovine) | PR |
| B9VR26 | CMLKR1 | Chemerin-like receptor 1 | Bos taurus (Bovine) | PR |
| P18130 | ADRA1A | Alpha-1A adrenergic receptor | Bos taurus (Bovine) | PR |
| B4XF06 | GPR39 | G-protein coupled receptor 39 | Bos taurus (Bovine) | PR |
| O18913 | OPN1LW | Long-wave-sensitive opsin 1 | Felis catus (Cat) (Felis silvestris catus) | PR |
| P28683 | PRA1 | Green-sensitive opsin | Gallus gallus (Chicken) | PR |
| Q9N298 | HTR1A | 5-hydroxytryptamine receptor 1A | Pan troglodytes (Chimpanzee) | PR |
| P08099 | Rh2 | Opsin Rh2 | Drosophila melanogaster (Fruit fly) | PR |
| P06002 | ninaE | Opsin Rh1 | Drosophila melanogaster (Fruit fly) | PR |
| Q4LBB9 | Octbeta2R | Octopamine receptor beta-2R | Drosophila melanogaster (Fruit fly) | PR |
| Q8NFJ6 | PROKR2 | Prokineticin receptor 2 | Homo sapiens (Human) | PR |
| Q13585 | GPR50 | Melatonin-related receptor | Homo sapiens (Human) | PR |
| Q9BZJ6 | GPR63 | Probable G-protein coupled receptor 63 | Homo sapiens (Human) | PR |
| Q9H3N8 | HRH4 | Histamine H4 receptor | Homo sapiens (Human) | PR |
| P28336 | NMBR | Neuromedin-B receptor | Homo sapiens (Human) | PR |
| Q9Y5Y3 | GPR45 | Probable G-protein coupled receptor 45 | Homo sapiens (Human) | PR |
| P08913 | ADRA2A | Alpha-2A adrenergic receptor | Homo sapiens (Human) | PR |
| P41597 | CCR2 | C-C chemokine receptor type 2 | Homo sapiens (Human) | PR |
| P51681 | CCR5 | C-C chemokine receptor type 5 | Homo sapiens (Human) | PR |
| Q8TCW9 | PROKR1 | Prokineticin receptor 1 | Homo sapiens (Human) | PR |
| Q99788 | CMKLR1 | Chemerin-like receptor 1 | Homo sapiens (Human) | PR |
| P08908 | HTR1A | 5-hydroxytryptamine receptor 1A | Homo sapiens (Human) | PR |
| P30559 | OXTR | Oxytocin receptor | Homo sapiens (Human) | PR |
| P32239 | CCKBR | Gastrin/cholecystokinin type B receptor | Homo sapiens (Human) | PR |
| O60883 | GPR37L1 | G-protein coupled receptor 37-like 1 | Homo sapiens (Human) | PR |
| Q8TDU9 | RXFP4 | Relaxin-3 receptor 2 | Homo sapiens (Human) | PR |
| P04000 | OPN1LW | Long-wave-sensitive opsin 1 | Homo sapiens (Human) | PR |
| Q6U736 | OPN5 | Opsin-5 | Homo sapiens (Human) | PR |
| P34972 | CNR2 | Cannabinoid receptor 2 | Homo sapiens (Human) | PR |
| P24530 | EDNRB | Endothelin receptor type B | Homo sapiens (Human) | PR |
| P35348 | ADRA1A | Alpha-1A adrenergic receptor | Homo sapiens (Human) | PR |
| Q6W5P4 | NPSR1 | Neuropeptide S receptor | Homo sapiens (Human) | PR |
| O43613 | HCRTR1 | Orexin/Hypocretin receptor type 1 | Homo sapiens (Human) | PR |
| P61073 | CXCR4 | C-X-C chemokine receptor type 4 | Homo sapiens (Human) | PR |
| Q9BXC0 | HCAR1 | Hydroxycarboxylic acid receptor 1 | Homo sapiens (Human) | PR |
| P30556 | AGTR1 | Type-1 angiotensin II receptor | Homo sapiens (Human) | PR |
| Q15761 | NPY5R | Neuropeptide Y receptor type 5 | Homo sapiens (Human) | PR |
| Q8N6U8 | GPR161 | G-protein coupled receptor 161 | Homo sapiens (Human) | PR |
| Q6DWJ6 | GPR139 | Probable G-protein coupled receptor 139 | Homo sapiens (Human) | PR |
| P21462 | FPR1 | fMet-Leu-Phe receptor | Homo sapiens (Human) | PR |
| P35414 | APLNR | Apelin receptor | Homo sapiens (Human) | PR |
| P46091 | CMKLR2 | Chemerin-like receptor 2 | Homo sapiens (Human) | PR |
| P32745 | SSTR3 | Somatostatin receptor type 3 | Homo sapiens (Human) | PR |
| P19973 | Lsp1 | Lymphocyte-specific protein 1 | Mus musculus (Mouse) | PR |
| O54799 | Nmbr | Neuromedin-B receptor | Mus musculus (Mouse) | PR |
| Q64264 | Htr1a | 5-hydroxytryptamine receptor 1A | Mus musculus (Mouse) | PR |
| P51675 | Ccr1 | C-C chemokine receptor type 1 | Mus musculus (Mouse) | PR |
| Q5U431 | Gpr39 | G-protein coupled receptor 39 | Mus musculus (Mouse) | PR |
| Q99JG2 | Gpr37l1 | G-protein coupled receptor 37-like 1 | Mus musculus (Mouse) | PR |
| P97295 | Npy2r | Neuropeptide Y receptor type 2 | Mus musculus (Mouse) | PR |
| O08786 | Cckar | Cholecystokinin receptor type A | Mus musculus (Mouse) | PR |
| P56481 | Cckbr | Gastrin/cholecystokinin type B receptor | Mus musculus (Mouse) | PR |
| P30731 | Gpr83 | G-protein coupled receptor 83 | Mus musculus (Mouse) | PR |
| P97468 | Cmklr1 | Chemerin-like receptor 1 | Mus musculus (Mouse) | PR |
| P21761 | Trhr | Thyrotropin-releasing hormone receptor | Mus musculus (Mouse) | PR |
| Q5QD16 | Taar3 | Trace amine-associated receptor 3 | Mus musculus (Mouse) | PR |
| P97292 | Hrh2 | Histamine H2 receptor | Mus musculus (Mouse) | PR |
| Q9EQQ3 | Gpr63 | Probable G-protein coupled receptor 63 | Mus musculus (Mouse) | PR |
| Q924H0 | Npffr2 | Neuropeptide FF receptor 2 | Mus musculus (Mouse) | PR |
| P34971 | Adrb1 | Beta-1 adrenergic receptor | Mus musculus (Mouse) | PR |
| Q91ZY2 | Hrh4 | Histamine H4 receptor | Mus musculus (Mouse) | PR |
| O88416 | Gpr33 | Probable G-protein coupled receptor 33 | Mus musculus (Mouse) | PR |
| Q8K087 | Cmklr2 | Chemerin-like receptor 2 | Mus musculus (Mouse) | PR |
| P70658 | Cxcr4 | C-X-C chemokine receptor type 4 | Mus musculus (Mouse) | PR |
| Q9WV08 | Aplnr | Apelin receptor | Mus musculus (Mouse) | PR |
| P97718 | Adra1a | Alpha-1A adrenergic receptor | Mus musculus (Mouse) | PR |
| Q8BZP8 | Npsr1 | Neuropeptide S receptor | Mus musculus (Mouse) | PR |
| Q8K458 | Prokr2 | Prokineticin receptor 2 | Mus musculus (Mouse) | PR |
| P58308 | Hcrtr2 | Orexin receptor type 2 | Mus musculus (Mouse) | PR |
| Q7TQP3 | Gpr119 | Glucose-dependent insulinotropic receptor | Mus musculus (Mouse) | PR |
| Q8BGE9 | Rxfp3 | Relaxin-3 receptor 1 | Mus musculus (Mouse) | PR |
| Q6VZZ7 | Opn5 | Opsin-5 | Mus musculus (Mouse) | PR |
| Q8CIM5 | Gpr84 | G-protein coupled receptor 84 | Mus musculus (Mouse) | PR |
| P25962 | Adrb3 | Beta-3 adrenergic receptor | Mus musculus (Mouse) | PR |
| Q80UC8 | Gpr139 | Probable G-protein coupled receptor 139 | Mus musculus (Mouse) | PR |
| P0C5I1 | Gpr25 | Probable G-protein coupled receptor 25 | Mus musculus (Mouse) | PR |
| P47936 | Cnr2 | Cannabinoid receptor 2 | Mus musculus (Mouse) | PR |
| Q5QD13 | Taar6 | Trace amine-associated receptor 6 | Mus musculus (Mouse) | PR |
| P35846 | Folr1 | Folate receptor alpha | Mus musculus (Mouse) | PR |
| P58307 | Hcrtr1 | Orexin/Hypocretin receptor type 1 | Mus musculus (Mouse) | PR |
| Q8C131 | Hcar1 | Hydroxycarboxylic acid receptor 1 | Mus musculus (Mouse) | PR |
| Q9EQQ4 | Gpr45 | Probable G-protein coupled receptor 45 | Mus musculus (Mouse) | PR |
| B2RPY5 | Gpr161 | G-protein coupled receptor 161 | Mus musculus (Mouse) | PR |
| Q764M9 | CXCR4 | C-X-C chemokine receptor type 4 | Sus scrofa (Pig) | PR |
| Q9EQD2 | Npffr2 | Neuropeptide FF receptor 2 | Rattus norvegicus (Rat) | PR |
| O08565 | Cxcr4 | C-X-C chemokine receptor type 4 | Rattus norvegicus (Rat) | PR |
| Q01717 | Trhr | Thyrotropin-releasing hormone receptor | Rattus norvegicus (Rat) | PR |
| P30936 | Sstr3 | Somatostatin receptor type 3 | Rattus norvegicus (Rat) | PR |
| Q9JHG3 | Aplnr | Apelin receptor | Rattus norvegicus (Rat) | PR |
| P43140 | Adra1a | Alpha-1A adrenergic receptor | Rattus norvegicus (Rat) | PR |
| P19327 | Htr1a | 5-hydroxytryptamine receptor 1A | Rattus norvegicus (Rat) | PR |
| P56719 | Hcrtr2 | Orexin receptor type 2 | Rattus norvegicus (Rat) | PR |
| P28564 | Htr1b | 5-hydroxytryptamine receptor 1B | Rattus norvegicus (Rat) | PR |
| P56718 | Hcrtr1 | Orexin/Hypocretin receptor type 1 | Rattus norvegicus (Rat) | PR |
| P28647 | Adora3 | Adenosine receptor A3 | Rattus norvegicus (Rat) | PR |
| P25102 | Hrh2 | Histamine H2 receptor | Rattus norvegicus (Rat) | PR |
| P23944 | Adra1d | Alpha-1D adrenergic receptor | Rattus norvegicus (Rat) | PR |
| Q8R415 | Prokr2 | Prokineticin receptor 2 | Rattus norvegicus (Rat) | PR |
| Q5QD24 | Taar3 | Trace amine-associated receptor 3 | Rattus norvegicus (Rat) | PR |
| P0C0W8 | Gpr139 | Probable G-protein coupled receptor 139 | Rattus norvegicus (Rat) | PR |
| P35370 | Oprl1 | Nociceptin receptor | Rattus norvegicus (Rat) | PR |
| P46090 | Cmklr2 | Chemerin-like receptor 2 | Rattus norvegicus (Rat) | PR |
| O97664 | CMKLR2 | Chemerin-like receptor 2 | Macaca mulatta (Rhesus macaque) | PR |
| O97666 | APLNR | Apelin receptor | Macaca mulatta (Rhesus macaque) | PR |
| Q56H79 | NPSR1 | Neuropeptide S receptor | Macaca mulatta (Rhesus macaque) | PR |
| Q18904 | npr-8 | Probable G-protein coupled receptor npr-8 | Caenorhabditis elegans | PR |
| Q09388 | gar-2 | Muscarinic acetylcholine receptor gar-2 | Caenorhabditis elegans | PR |
| B3DM66 | gpr161 | G-protein coupled receptor 161 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q9W6A6 | opn1mw4 | Green-sensitive opsin-4 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q9W6A5 | opn1mw1 | Green-sensitive opsin-1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q8AYM7 | opn1mw3 | Green-sensitive opsin-3 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q8AYN0 | opn1lw2 | Red-sensitive opsin-2 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q90X46 | gpr161 | G-protein coupled receptor 161 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDMAWQMMQL | LLLALVTAAG | SAQPRSARAR | TDLLNVCMNA | KHHKTQPSPE | DELYGQCSPW |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KKNACCTAST | SQELHKDTSR | LYNFNWDHCG | KMEPTCKRHF | IQDSCLYECS | PNLGPWIRQV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NQSWRKERIL | NVPLCKEDCE | RWWEDCRTSY | TCKSNWHKGW | NWTSGINECP | AGALCSTFES |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YFPTPAALCE | GLWSHSFKVS | NYSRGSGRCI | QMWFDSAQGN | PNEEVAKFYA | AAMNAGAPSR |
| GIIDS |