P98066
Gene name |
TNFAIP6 (TSG6) |
Protein name |
Tumor necrosis factor-inducible gene 6 protein |
Names |
Hyaluronate-binding protein, TNF-stimulated gene 6 protein, TSG-6, Tumor necrosis factor alpha-induced protein 6, TNF alpha-induced protein 6 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7130 |
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
234 variants for P98066
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA1903375 rs144488091 |
2 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1903374 rs78598479 |
2 | I>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA348738551 rs1309741565 |
4 | L>F | No |
ClinGen gnomAD |
|
CA57618185 rs906774524 |
5 | I>T | No |
ClinGen Ensembl |
|
TCGA novel | 5 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA57618186 rs938308191 |
8 | F>L | No |
ClinGen Ensembl |
|
CA348738616 rs1227801594 |
9 | L>I | No |
ClinGen gnomAD |
|
CA1903378 rs762941271 COSM354227 |
10 | L>F | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs766282193 CA1903379 |
11 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA348738639 rs1377079307 |
12 | W>* | No |
ClinGen TOPMed |
|
COSM1613478 rs1482130755 CA348738645 |
13 | E>G | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA348738642 COSM1007334 rs1255173921 |
13 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA57618236 rs763386524 |
14 | D>G | No |
ClinGen Ensembl |
|
CA348738701 rs1178900449 |
21 | K>E | No |
ClinGen gnomAD |
|
CA348738726 rs1471980059 |
24 | I>T | No |
ClinGen gnomAD |
|
rs1252375732 CA348738723 |
24 | I>V | No |
ClinGen gnomAD |
|
CA348738736 rs1179380465 |
25 | F>L | No |
ClinGen gnomAD |
|
TCGA novel | 26 | H>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1300954433 CA348738742 |
26 | H>L | No |
ClinGen TOPMed |
|
CA348738743 rs1431045299 |
26 | H>Q | No |
ClinGen gnomAD |
|
rs774170435 CA1903380 |
28 | S>P | No |
ClinGen ExAC gnomAD |
|
rs767120411 CA1903382 |
29 | I>M | No |
ClinGen ExAC gnomAD |
|
CA1903381 rs759370266 |
29 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1903383 rs752372019 |
30 | W>* | No |
ClinGen ExAC gnomAD |
|
rs755566605 CA1903384 |
32 | E>* | No |
ClinGen ExAC gnomAD |
|
rs763712766 CA1903404 |
33 | R>* | No |
ClinGen ExAC gnomAD |
|
rs763712766 CA1903403 |
33 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA1903405 rs761269991 |
33 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761269991 CA348739887 |
33 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1298030316 CA348739897 |
34 | A>E | No |
ClinGen gnomAD |
|
CA348739904 rs1341413378 |
35 | A>D | No |
ClinGen TOPMed gnomAD |
|
CA348739907 rs1341413378 |
35 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA348739910 rs750979012 |
36 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750979012 CA57621576 |
36 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750979012 CA1903407 COSM1528281 |
36 | G>S | lung haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs758767494 CA1903408 |
39 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA348740009 rs1299889223 |
41 | E>K | No |
ClinGen TOPMed |
|
CA348740030 rs1308388959 |
42 | A>P | No |
ClinGen gnomAD |
|
rs566948911 CA1903410 |
43 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA57621590 rs201398199 |
44 | S>P | No |
ClinGen Ensembl |
|
rs148912042 CA57621592 |
45 | G>D | No |
ClinGen ESP TOPMed |
|
CA348740150 rs1426798974 |
47 | Y>* | No |
ClinGen TOPMed |
|
CA348740144 rs1486636427 |
47 | Y>C | No |
ClinGen TOPMed gnomAD |
|
CA57621598 rs375585000 |
48 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA348740163 rs1190964425 |
48 | K>R | No |
ClinGen gnomAD |
|
rs75961064 CA1903412 |
50 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs75961064 CA348740178 |
50 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1903414 rs557940940 |
51 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
COSM241955 CA57621606 rs577924895 |
52 | A>T | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes TOPMed gnomAD |
rs1264066329 CA348740208 |
52 | A>V | No |
ClinGen TOPMed |
|
CA57621611 rs1046624496 |
53 | E>D | No |
ClinGen Ensembl |
|
rs1206000077 CA348740229 |
54 | A>P | No |
ClinGen TOPMed |
|
CA348740237 rs1321610042 |
54 | A>V | No |
ClinGen TOPMed |
|
CA1903415 rs778767210 |
55 | K>R | No |
ClinGen ExAC gnomAD |
|
CA348740249 COSM1528280 rs1321415465 |
56 | A>E | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
rs372855249 CA348740247 |
56 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1903416 rs372855249 |
56 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM1007335 CA348740251 rs1321415465 |
56 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
TCGA novel | 63 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs760436617 CA1903419 |
63 | G>S | No |
ClinGen ExAC gnomAD |
|
CA348740325 rs1356961459 |
64 | H>R | No |
ClinGen gnomAD |
|
CA57621642 rs868652351 |
64 | H>Y | No |
ClinGen Ensembl |
|
rs138376471 CA57621650 |
65 | L>I | No |
ClinGen ESP TOPMed gnomAD |
|
rs138376471 CA57621657 |
65 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
rs768323812 CA1903421 |
66 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 66 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs776169770 CA1903422 |
67 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776169770 CA1903423 |
67 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1903426 rs763538732 |
68 | Y>* | No |
ClinGen ExAC gnomAD |
|
rs150253672 CA1903424 |
68 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1903425 rs750019197 |
68 | Y>S | No |
ClinGen ExAC gnomAD |
|
rs767039176 CA1903427 |
69 | K>Q | No |
ClinGen ExAC gnomAD |
|
CA1903428 rs373889474 COSM1528279 |
70 | Q>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
CA348740415 rs1473397404 |
70 | Q>R | No |
ClinGen gnomAD |
|
CA57621700 rs1002258799 |
73 | A>T | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 75 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1364961972 CA348740526 |
76 | K>T | No |
ClinGen TOPMed |
|
rs1573779649 CA348740550 |
77 | I>N | No |
ClinGen Ensembl |
|
CA57622908 rs965594926 |
85 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs1573780698 CA348741759 COSM1007336 |
86 | W>C | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
TCGA novel | 87 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs149442878 CA1903448 |
87 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs766949017 CA1903449 |
88 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1487580979 CA348741834 |
89 | K>R | No |
ClinGen TOPMed |
|
rs774746563 CA1903450 |
90 | G>A | No |
ClinGen ExAC gnomAD |
|
CA57622914 rs774746563 |
90 | G>D | No |
ClinGen ExAC gnomAD |
|
CA348741862 rs774746563 |
90 | G>V | No |
ClinGen ExAC gnomAD |
|
rs1323821290 CA348741984 |
95 | P>A | No |
ClinGen TOPMed |
|
rs759889961 CA1903451 |
95 | P>L | No |
ClinGen ExAC gnomAD |
|
CA1903453 rs753174763 |
96 | I>V | No |
ClinGen ExAC gnomAD |
|
CA348742048 rs1288176027 |
97 | V>L | No |
ClinGen TOPMed |
|
CA1903454 rs756279797 |
99 | P>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 101 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 101 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1573780739 CA348742188 |
102 | N>K | No |
ClinGen Ensembl |
|
CA1903455 rs764349918 |
103 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753884537 CA1903456 |
104 | G>A | No |
ClinGen ExAC gnomAD |
|
CA348742324 rs1280150420 |
107 | K>R | No |
ClinGen TOPMed |
|
CA1903457 rs757358858 |
108 | T>I | No |
ClinGen ExAC gnomAD |
|
CA348742352 rs1398274437 |
108 | T>S | No |
ClinGen TOPMed |
|
TCGA novel | 109 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs779908291 CA348742428 |
111 | I>N | No |
ClinGen ExAC gnomAD |
|
rs779908291 CA1903458 |
111 | I>T | No |
ClinGen ExAC gnomAD |
|
rs1277207727 CA348742468 |
112 | D>V | No |
ClinGen gnomAD |
|
rs1558898867 CA348742507 |
113 | Y>F | No |
ClinGen Ensembl |
|
CA348742497 rs1437120616 |
113 | Y>H | No |
ClinGen TOPMed |
|
rs373227124 COSM1399889 CA1903460 |
116 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
CA1903461 rs200351871 COSM1399890 |
116 | R>H | large_intestine Variant assessed as Somatic; 0.0002772 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs780835429 CA1903462 |
117 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1273287962 CA348742774 |
125 | A>T | No |
ClinGen gnomAD |
|
rs1378365946 CA348742779 |
125 | A>V | No |
ClinGen gnomAD |
|
CA348742789 rs1477613107 |
126 | Y>N | No |
ClinGen gnomAD |
|
CA348742869 rs1558898879 |
130 | P>L | No |
ClinGen Ensembl |
|
rs748020930 CA1903465 |
131 | H>D | No |
ClinGen ExAC gnomAD |
|
rs748020930 CA1903464 |
131 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs79800957 CA1903467 |
132 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1558900019 CA348743811 |
133 | K>E | No |
ClinGen Ensembl |
|
CA1903490 rs144393744 |
134 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs745433699 CA1903491 |
137 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1903493 COSM206342 rs564029423 |
138 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
CA348743930 rs1411232696 |
140 | T>I | No |
ClinGen TOPMed |
|
rs1208305017 CA348743919 |
140 | T>S | No |
ClinGen gnomAD |
|
rs1250068848 CA348743932 |
141 | D>N | No |
ClinGen gnomAD |
|
TCGA novel | 142 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA57624752 rs899943634 |
143 | K>Q | No |
ClinGen TOPMed gnomAD |
|
rs1046668 CA1903495 VAR_013005 |
144 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA348743996 rs1425468247 |
145 | I>S | No |
ClinGen gnomAD |
|
rs777047478 CA1903496 |
146 | F>Y | No |
ClinGen ExAC gnomAD |
|
rs149968670 CA1903497 |
147 | K>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1465096752 CA348744014 |
148 | S>P | No |
ClinGen TOPMed |
|
rs1249337236 CA348744015 |
148 | S>Y | No |
ClinGen TOPMed |
|
rs750435263 CA1903499 |
149 | P>S | No |
ClinGen ExAC |
|
CA1903501 rs140516340 |
150 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1903500 rs140516340 |
150 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA348744023 rs1160947174 |
150 | G>S | No |
ClinGen gnomAD |
|
TCGA novel | 150 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1320279312 CA348744057 |
155 | Y>H | No |
ClinGen gnomAD |
|
rs777710715 CA1903504 |
156 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA348744094 rs1339954648 |
157 | D>E | No |
ClinGen gnomAD |
|
rs1313995402 CA348744082 |
157 | D>N | No |
ClinGen gnomAD |
|
rs1436050926 CA348744148 |
161 | C>S | No |
ClinGen TOPMed |
|
CA1903506 rs200453016 |
163 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1330074240 CA348744183 |
163 | W>C | No |
ClinGen gnomAD |
|
TCGA novel | 165 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA348744228 rs1434394866 |
167 | L>F | No |
ClinGen TOPMed |
|
CA1903509 rs370598436 |
171 | Q>L | No |
ClinGen ESP ExAC gnomAD |
|
CA57624813 COSM1669300 rs981707651 |
172 | R>C | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA1903510 rs780367746 COSM1007338 |
172 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA348744310 rs1573783283 |
174 | H>Q | No |
ClinGen Ensembl |
|
TCGA novel | 176 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs747510114 CA348744330 |
176 | S>R | No |
ClinGen ExAC gnomAD |
|
rs1472041501 CA348744349 |
178 | L>* | No |
ClinGen TOPMed gnomAD |
|
CA348744350 rs1472041501 |
178 | L>S | No |
ClinGen TOPMed gnomAD |
|
rs958421084 CA57624845 |
179 | D>A | No |
ClinGen Ensembl |
|
CA348744368 rs1156453547 |
179 | D>E | No |
ClinGen gnomAD |
|
rs1449680419 CA348744375 |
180 | F>S | No |
ClinGen TOPMed |
|
rs1028157279 CA57624847 |
181 | D>Y | No |
ClinGen TOPMed gnomAD |
|
rs769208574 CA1903513 |
183 | E>K | No |
ClinGen ExAC gnomAD |
|
CA348744439 rs1186283138 |
184 | D>G | No |
ClinGen TOPMed |
|
CA1903514 rs776955823 |
184 | D>N | No |
ClinGen ExAC gnomAD |
|
CA1903515 rs762203306 |
185 | D>G | No |
ClinGen ExAC gnomAD |
|
CA1903516 rs769648795 |
186 | P>R | No |
ClinGen ExAC gnomAD |
|
CA1903517 rs563382038 |
187 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs375122098 CA57624858 |
188 | C>F | No |
ClinGen ESP |
|
TCGA novel | 188 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA348744537 rs1351383907 |
190 | A>P | No |
ClinGen gnomAD |
|
CA57624864 rs866337628 |
191 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs1305075536 CA348744569 |
192 | Y>C | No |
ClinGen gnomAD |
|
CA1903518 rs762880468 |
192 | Y>D | No |
ClinGen ExAC gnomAD |
|
rs766487949 CA1903519 |
194 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs1210482350 CA348744620 |
196 | Y>H | No |
ClinGen gnomAD |
|
CA348744674 rs1484636494 |
198 | S>G | No |
ClinGen gnomAD |
|
CA1903521 rs529021144 |
198 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs764178747 CA1903522 |
199 | Y>D | No |
ClinGen ExAC |
|
rs757108830 CA1903524 |
200 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs143338696 CA1903525 |
201 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1903526 rs140582548 |
203 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1903527 rs140582548 |
203 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA348744841 rs1177222226 |
204 | G>V | No |
ClinGen gnomAD |
|
TCGA novel | 207 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs749666169 CA1903555 |
209 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA348745790 rs1174607222 |
210 | C>Y | No |
ClinGen TOPMed |
|
CA1903556 rs771155983 |
212 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA348745831 rs1321757669 |
214 | L>F | No |
ClinGen gnomAD |
|
rs867593216 CA57626679 |
216 | D>Y | No |
ClinGen Ensembl |
|
CA1903557 rs774746995 |
217 | D>N | No |
ClinGen ExAC gnomAD |
|
rs75295519 CA1903578 |
225 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA348747767 rs1263829925 |
225 | M>V | No |
ClinGen Ensembl |
|
CA348747817 rs1398683081 |
226 | T>S | No |
ClinGen gnomAD |
|
CA1903580 rs769731044 |
228 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1903581 rs773044528 |
229 | F>V | No |
ClinGen ExAC gnomAD |
|
CA348748028 rs1286585291 |
231 | S>R | No |
ClinGen TOPMed |
|
rs762748545 CA1903583 |
233 | A>G | No |
ClinGen ExAC |
|
rs1386354888 CA348748116 |
235 | V>E | No |
ClinGen TOPMed |
|
CA348748125 rs1165881610 |
236 | T>A | No |
ClinGen TOPMed |
|
rs1443095164 CA348748157 |
238 | G>E | No |
ClinGen TOPMed |
|
CA348748190 rs1558903194 |
239 | G>D | No |
ClinGen Ensembl |
|
rs1043531162 CA57630914 |
240 | F>L | No |
ClinGen TOPMed gnomAD |
|
CA1903584 rs770715241 |
241 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA57630942 rs903730413 |
241 | Q>R | No |
ClinGen TOPMed |
|
CA1903585 rs774196085 |
247 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767208447 CA1903587 |
249 | P>H | No |
ClinGen ExAC gnomAD |
|
CA1903588 rs752224364 |
250 | V>A | No |
ClinGen ExAC TOPMed |
|
rs1337129553 CA348748423 |
251 | S>C | No |
ClinGen TOPMed gnomAD |
|
rs760138076 CA1903589 |
254 | S>N | No |
ClinGen ExAC gnomAD |
|
rs1480030108 CA348748478 |
255 | Q>E | No |
ClinGen Ensembl |
|
CA348748486 rs1183183577 |
255 | Q>H | No |
ClinGen gnomAD |
|
rs764614306 CA1903590 |
255 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs754315587 CA1903591 |
256 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759969484 | 258 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
rs1468470122 CA348748550 |
259 | T>I | No |
ClinGen gnomAD |
|
rs1363376468 CA348748542 |
259 | T>S | No |
ClinGen gnomAD |
|
rs757631554 CA1903593 |
260 | S>C | No |
ClinGen ExAC gnomAD |
|
rs757631554 CA348748555 |
260 | S>G | No |
ClinGen ExAC gnomAD |
|
rs149283868 CA1903595 |
261 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1903596 rs371407882 |
262 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs371407882 CA1903597 |
262 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA348748622 rs1327849249 |
264 | T>N | No |
ClinGen gnomAD |
|
rs1333603367 CA348748659 |
267 | K>R | No |
ClinGen TOPMed gnomAD |
|
CA348748654 rs1333603367 |
267 | K>T | No |
ClinGen TOPMed gnomAD |
|
CA1903600 rs768628817 |
268 | N>I | No |
ClinGen ExAC gnomAD |
|
rs777695934 CA1903601 |
269 | F>V | No |
ClinGen ExAC gnomAD |
|
CA348748728 rs1278745392 |
271 | A>G | No |
ClinGen TOPMed gnomAD |
|
rs1573788962 CA348748751 |
273 | R>K | No |
ClinGen Ensembl |
|
CA348748820 rs1366742553 |
275 | S>N | No |
ClinGen TOPMed |
|
rs1344419277 CA348748805 |
275 | S>R | No |
ClinGen gnomAD |
|
CA1903602 rs749216110 |
276 | H>P | No |
ClinGen ExAC gnomAD |
|
CA57631042 rs200515492 |
276 | H>Q | No |
ClinGen TOPMed gnomAD |
|
CA57631061 rs866744420 |
278 | L>K | No |
ClinGen TOPMed |
|
CA1903603 rs753076336 |
278 | L>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770909635 CA1903610 |
278 | L>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA348748894 rs866744420 |
278 | L>Q | No |
ClinGen TOPMed |
|
rs770909635 CA1903611 |
278 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA348748933 rs1453508269 |
278 | L>Y | No |
ClinGen gnomAD |
No associated diseases with P98066
1 regional properties for P98066
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Small GTP-binding protein domain | 12 - 139 | IPR005225 |
4 GO annotations of cellular component
Name | Definition |
---|---|
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. |
extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
ficolin-1-rich granule lumen | Any membrane-enclosed lumen that is part of a ficolin-1-rich granule. |
tertiary granule lumen | Any membrane-enclosed lumen that is part of a tertiary granule. |
4 GO annotations of molecular function
Name | Definition |
---|---|
calcium ion binding | Binding to a calcium ion (Ca2+). |
carboxylic ester hydrolase activity | Catalysis of the hydrolysis of a carboxylic ester bond. |
fibronectin binding | Binding to a fibronectin, a group of related adhesive glycoproteins of high molecular weight found on the surface of animal cells, connective tissue matrices, and in extracellular fluids. |
hyaluronic acid binding | Binding to hyaluronic acid, a polymer composed of repeating dimeric units of glucuronic acid and N-acetyl glucosamine. |
15 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. |
cell-cell signaling | Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions. |
fibronectin fibril organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a fibronectin fibril. |
hyaluronan metabolic process | The chemical reactions and pathways involving hyaluronan, the naturally occurring anionic form of hyaluronic acid, any member of a group of glycosaminoglycans, the repeat units of which consist of beta-1,4 linked D-glucuronyl-beta-(1,3)-N-acetyl-D-glucosamine. |
inflammatory response | The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
negative regulation of BMP signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of the BMP signaling pathway. |
negative regulation of inflammatory response | Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response. |
negative regulation of neutrophil chemotaxis | Any process that decreases the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. |
negative regulation of osteoblast differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of osteoblast differentiation. |
negative regulation of osteoclast differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of osteoclast differentiation. |
ovarian cumulus expansion | Increase in size of the cumulus surrounding the oocyte including change in morphology due to proliferation and dispersion of cumulus cells. |
ovulation | The release of a mature ovum/oocyte from an ovary. |
positive regulation of cell migration | Any process that activates or increases the frequency, rate or extent of cell migration. |
positive regulation of receptor clustering | Any process that activates or increases the frequency, rate or extent of receptor clustering. |
signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
23 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q6UC88 | LYVE1 | Lymphatic vessel endothelial hyaluronic acid receptor 1 | Bos taurus (Bovine) | PR |
Q9DER7 | TLL1 | Tolloid-like protein 1 | Gallus gallus (Chicken) | PR |
P25723 | tld | Dorsal-ventral patterning protein tolloid | Drosophila melanogaster (Fruit fly) | PR |
O43897 | TLL1 | Tolloid-like protein 1 | Homo sapiens (Human) | PR |
P13497 | BMP1 | Bone morphogenetic protein 1 | Homo sapiens (Human) | PR |
Q9Y6L7 | TLL2 | Tolloid-like protein 2 | Homo sapiens (Human) | PR |
Q9Y5Y7 | LYVE1 | Lymphatic vessel endothelial hyaluronic acid receptor 1 | Homo sapiens (Human) | PR |
P98063 | Bmp1 | Bone morphogenetic protein 1 | Mus musculus (Mouse) | PR |
Q9WVM6 | Tll2 | Tolloid-like protein 2 | Mus musculus (Mouse) | PR |
Q6HA09 | Astl | Astacin-like metalloendopeptidase | Mus musculus (Mouse) | PR |
Q62381 | Tll1 | Tolloid-like protein 1 | Mus musculus (Mouse) | PR |
O08859 | Tnfaip6 | Tumor necrosis factor-inducible gene 6 protein | Mus musculus (Mouse) | PR |
Q8BHC0 | Lyve1 | Lymphatic vessel endothelial hyaluronic acid receptor 1 | Mus musculus (Mouse) | PR |
P45442 | lag-2 | Protein lag-2 | Caenorhabditis elegans | EV |
Q9U3S9 | nas-6 | Zinc metalloproteinase nas-6 | Caenorhabditis elegans | PR |
P55112 | nas-4 | Zinc metalloproteinase nas-4 | Caenorhabditis elegans | PR |
P55113 | nas-7 | Zinc metalloproteinase nas-7 | Caenorhabditis elegans | PR |
Q18439 | nas-8 | Zinc metalloproteinase nas-8 | Caenorhabditis elegans | PR |
Q20176 | nas-39 | Zinc metalloproteinase nas-39 | Caenorhabditis elegans | PR |
Q20942 | nas-38 | Zinc metalloproteinase nas-38 | Caenorhabditis elegans | PR |
Q21252 | nas-3 | Zinc metalloproteinase nas-3 | Caenorhabditis elegans | PR |
P55115 | nas-15 | Zinc metalloproteinase nas-15 | Caenorhabditis elegans | PR |
O57460 | tll1 | Dorsal-ventral patterning tolloid-like protein 1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MIILIYLFLL | LWEDTQGWGF | KDGIFHNSIW | LERAAGVYHR | EARSGKYKLT | YAEAKAVCEF |
70 | 80 | 90 | 100 | 110 | 120 |
EGGHLATYKQ | LEAARKIGFH | VCAAGWMAKG | RVGYPIVKPG | PNCGFGKTGI | IDYGIRLNRS |
130 | 140 | 150 | 160 | 170 | 180 |
ERWDAYCYNP | HAKECGGVFT | DPKQIFKSPG | FPNEYEDNQI | CYWHIRLKYG | QRIHLSFLDF |
190 | 200 | 210 | 220 | 230 | 240 |
DLEDDPGCLA | DYVEIYDSYD | DVHGFVGRYC | GDELPDDIIS | TGNVMTLKFL | SDASVTAGGF |
250 | 260 | 270 | |||
QIKYVAMDPV | SKSSQGKNTS | TTSTGNKNFL | AGRFSHL |